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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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+ Genes 22

Genes:
ANKRD36C, FGFRL1, FOXG1, GOLGA2, HPR, HSF1, MYO5B, NBPF16, NOTCH2, NUB1, PLGLB1, PRAMEF1, RGPD8, SLC9B1P1, SOAT2, SPRR1A, SPRR1B, TRBV10-2, TRBV3-1, VAC14, VARS2, VCX3B,

+ Genes associated with diseases 5

Genes at Omim

FOXG1, MYO5B, NOTCH2, VAC14, VARS2,

FOXG1	Rett syndrome, congenital variant, 613454 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
VAC14	Striatonigral degeneration, childhood-onset, 617054 (3)
VARS2	Combined oxidative phosphorylation deficiency 20, 615917 (3)

Genes at Clinical Genomics Database

FOXG1, MYO5B, NOTCH2, VARS2,

FOXG1	Rett syndrome, congenital variant
MYO5B	Diarrhea 2, with microvillus atrophy
NOTCH2	Alagille syndrome 2
VARS2	Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 819
Number of Genes: 22

Export to: CSV

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Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	136	1	rs2275811 dbSNP Clinvar	985460	35.77	T	C	LowQual	0/1	10	None	None	None	0.29054	0.29050	0.13006				None None	None None None None	AGRN\|0.026450221\|71.13%
	View	136	X	rs200557971 dbSNP Clinvar	151290002	47.73	G	GT	LowQual	0/1	16	None	None	None							None None	None None None None	None
	View	136	X	rs757293823,rs756752481 dbSNP Clinvar	122772578	40.73	TAC	T	LowQual	0/1	16	None	None	None							None None	None None None None	THOC2\|0.835142025\|4.98%
	View	136	X	rs72026364 dbSNP Clinvar	50165595	39.73	AAC	A	LowQual	0/1	14	None	None	None							None None	None None None None	None
	View	136	X	rs781895533,rs368248747 dbSNP Clinvar	48378985	42.73	AAC	A	LowQual	0/1	8	None	None	None							None None	None None None None	PORCN\|0.57884181\|12.63%
	View	136	X	rs11363600 dbSNP Clinvar	70080911	46.73	CT	C	LowQual	0/1	26	None	None	None	0.40689	0.40690					None None	None None None None	TEX11\|0.015005078\|77.12%
	View	136	X	.	61711321	31.77	C	T	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	X	rs544098749,rs5902274 dbSNP Clinvar	41196895	41.9	CT	C	LowQual	0/1	7	None	None	None	0.67788	0.67790					None None	None None None None	DDX3X\|0.576936276\|12.73%
	View	136	X	rs772397322 dbSNP Clinvar	20194479	49.73	G	GA	LowQual	0/1	18	None	None	None							None None	None None None None	RPS6KA3\|0.840244926\|4.88%
VCX3B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	136	X	rs200112127 dbSNP Clinvar	8434256	34.77	A	G	LowQual	0/1	13	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	VCX3B\|0.000759636\|96.94%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	136	X	.	585121	32.73	C	CTT	LowQual	0/1	18	None	None	None							None None	None None None None	SHOX\|0.016751874\|76.05%
	View	136	X	rs3813940 dbSNP Clinvar	585090	33.77	G	T	LowQual	0/1	16	None	None	None	0.21985	0.21980					None None	None None None None	SHOX\|0.016751874\|76.05%
	View	136	22	rs2072853 dbSNP Clinvar	43533422	38.77	G	A	LowQual	0/1	14	None	None	None	0.12061	0.12060					None None	None None None None	MCAT\|0.057206946\|60.65%
	View	136	22	rs367879331 dbSNP Clinvar	46739096	47.73	C	CT	LowQual	0/1	27	None	None	None							None None	None None None None	TRMU\|0.046992702\|63.58%
	View	136	22	rs4822062 dbSNP Clinvar	42274287	46.77	G	A	LowQual	0/1	12	None	None	None	0.15296	0.15300					None None	None None None None	SREBF2\|0.23617464\|32.79%
	View	136	22	rs7291645 dbSNP Clinvar	30079213	40.77	T	C	LowQual	0/1	14	None	None	None	0.27476	0.27480					None None	None None None None	NF2\|0.952013978\|2.2%
	View	136	22	rs201890320 dbSNP Clinvar	24740311	30.73	TA	T	LowQual	0/1	11	None	None	None	0.12121	0.12120					None None	None None None None	SPECC1L\|0.089571216\|53.31%
	View	136	22	rs397897183 dbSNP Clinvar	24176480	30.73	C	CG	LowQual	0/1	11	None	None	None	0.14477	0.14480					None None	None None None None	SMARCB1\|0.716911662\|8.07%
	View	136	22	rs3890997 dbSNP Clinvar	22976973	37.77	C	T	LowQual	0/1	19	None	None	None							None None	None None None None	None
	View	136	22	rs71262853 dbSNP Clinvar	22976951	49.73	CGAT	C	LowQual	0/1	16	None	None	None							None None	None None None None	None
	View	136	22	rs548205655 dbSNP Clinvar	21649094	40.73	AC	A	LowQual	0/1	20	None	None	None	0.14796	0.14800					None None	None None None None	None
	View	136	22	rs79298798 dbSNP Clinvar	16953804	49.77	A	C	LowQual	0/1	12	None	None	None							None None	None None None None	None
	View	136	22	rs200619354 dbSNP Clinvar	16953751	49.77	A	G	LowQual	0/1	19	None	None	None							None None	None None None None	None
	View	136	22	rs9604723 dbSNP Clinvar	16101684	46.77	A	G	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	22	rs2079621 dbSNP Clinvar	17702580	37.77	T	C	LowQual	0/1	13	None	None	None	0.14137	0.14140					None None	None None None None	CECR1\|0.005555604\|85.15%
	View	136	21	rs746511168 dbSNP Clinvar	47974704	32.77	G	C	LowQual	0/1	13	None	None	None							None None	None None None None	DIP2A\|0.064095824\|58.86%
	View	136	21	rs2070650 dbSNP Clinvar	38092039	40.77	A	C	LowQual	0/1	16	None	None	None	0.54732	0.54730					None None	None None None None	SIM2\|0.46554785\|17.37%
	View	136	21	.	37767028	32.73	CTT	C	LowQual	0/1	9	None	None	None							None None	None None None None	CHAF1B\|0.088807597\|53.49%
	View	136	21	rs181412078 dbSNP Clinvar	15281830	31.77	G	C	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	21	rs4913693 dbSNP Clinvar	11058545	33.77	T	C	LowQual	0/1	15	None	None	None							None None	None None None None	None
	View	136	21	rs466487 dbSNP Clinvar	11049828	40.77	G	A	LowQual	0/1	25	None	None	None							None None	None None None None	None
	View	136	21	rs4913662 dbSNP Clinvar	10968882	45.77	G	C	LowQual	0/1	25	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	136	21	rs212112 dbSNP Clinvar	10959881	43.77	G	A	LowQual	0/1	21	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	136	21	rs2207393 dbSNP Clinvar	10951474	38.77	G	A	LowQual	0/1	24	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	136	21	rs878870712 dbSNP Clinvar	9927116	38.77	C	T	LowQual	0/1	15	None	None	None							None None	None None None None	None
	View	136	20	rs144424886 dbSNP Clinvar	36611550	49.73	TTG	T	LowQual	0/1	15	None	None	None							None None	None None None None	TTI1\|0.103468443\|50.52%
	View	136	20	rs879097622 dbSNP Clinvar	35788405	47.73	CA	C	LowQual	0/1	14	None	None	None							None None	None None None None	MROH8\|0.030021625\|69.39%
	View	136	20	rs200990142 dbSNP Clinvar	35672436	41.73	GT	G	LowQual	0/1	17	None	None	None	0.41514	0.41510					None None	None None None None	RBL1\|0.381608841\|21.94%
	View	136	20	rs1003593091,rs34799722 dbSNP Clinvar	35632423	40.73	CT	C	LowQual	0/1	9	None	None	None							None None	None None None None	RBL1\|0.381608841\|21.94%
	View	136	20	rs10439606 dbSNP Clinvar	34068160	45.77	A	G	LowQual	0/1	12	None	None	None	0.20268	0.20270					None None	None None None None	CEP250\|0.102943293\|50.61%
	View	136	20	rs958423692 dbSNP Clinvar	29627955	39.77	C	G	LowQual	0/1	15	None	None	None							None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	136	20	rs75820728 dbSNP Clinvar	26078834	30.77	C	T	LowQual	0/1	17	None	None	None							None None	None None None None	None
	View	136	20	rs981719684 dbSNP Clinvar	17539689	45.73	G	GA	LowQual	0/1	16	None	None	None							None None	None None None None	BFSP1\|0.019258664\|74.54%
	View	136	20	rs35308216 dbSNP Clinvar	10629525	45.77	T	C	LowQual	0/1	10	None	None	None	0.15375	0.15380					None None	None None None None	JAG1\|0.990514193\|1.06%
	View	136	20	rs2250338 dbSNP Clinvar	3631881	43.77	G	C	LowQual	0/1	13	None	None	None	0.42113	0.42110					None None	None None None None	None
	View	136	20	rs3746801 dbSNP Clinvar	742237	41.77	G	A	LowQual	0/1	17	None	None	None	0.52995	0.53000					None None	None None None None	SLC52A3\|0.03235116\|68.43%
	View	136	20	rs11447695 dbSNP Clinvar	9461895	44.73	G	GT	LowQual	0/1	11	None	None	None							None None	None None None None	None
	View	136	20	rs2021349 dbSNP Clinvar	6181948	40.77	G	A	LowQual	0/1	14	None	None	None	0.75419	0.75420					None None	None None None None	None
	View	136	19	rs377171638 dbSNP Clinvar	54747201	47.77	C	T	LowQual	0/1	13	None	None	None							None None	None None None None	RPS9\|0.191676848\|37.63%
	View	136	19	rs3212822,rs397778124 dbSNP Clinvar	51325919	41.73	G	GT	LowQual	0/1	11	None	None	None	0.28974	0.28970					None None	None None None None	KLK1\|0.00235549\|90.04%
	View	136	19	rs12979984 dbSNP Clinvar	45849690	48.77	G	C	LowQual	0/1	12	None	None	None	0.19709	0.19710					None None	None None None None	KLC3\|0.027072338\|70.83%
	View	136	19	rs11882479 dbSNP Clinvar	45826366	46.77	G	A	LowQual	0/1	10	None	None	None	0.24461	0.24460					None None	None None None None	None
	View	136	19	rs2369006 dbSNP Clinvar	41120083	44.77	A	T	LowQual	0/1	10	None	None	None	0.37520	0.37520					None None	None None None None	LTBP4\|0.091127701\|53.01%
	View	136	19	rs934069958 dbSNP Clinvar	30314458	45.73	G	GA	LowQual	0/1	25	None	None	None							None None	None None None None	CCNE1\|0.559615887\|13.38%
	View	136	19	rs8101043 dbSNP Clinvar	15769827	39.77	C	G	LowQual	0/1	20	None	None	None	0.09085	0.09085					None None	None None None None	CYP4F3\|0.005772844\|84.88%
	View	136	19	rs919788 dbSNP Clinvar	15684093	37.77	G	A	LowQual	0/1	10	None	None	None	0.32508	0.32510					None None	None None None None	None
	View	136	19	.	11258043	33.73	C	CT	LowQual	0/1	21	None	None	None							None None	None None None None	SPC24\|0.019919442\|74.22%
	View	136	19	rs11666990 dbSNP Clinvar	11172299	42.77	G	A	LowQual	0/1	14	None	None	None	0.19030	0.19030					None None	None None None None	SMARCA4\|0.921265936\|2.95%
	View	136	19	rs34301809,rs397686848 dbSNP Clinvar	10478595	49.73	CA	C	LowQual	0/1	9	None	None	None	0.53055	0.53060					None None	None None None None	TYK2\|0.224281152\|33.93%
	View	136	19	rs780522047 dbSNP Clinvar	1611372	48.73	GA	G	LowQual	0/1	27	None	None	None							None None	None None None None	TCF3\|0.245655787\|31.96%
	View	136	19	rs3894776 dbSNP Clinvar	1457370	43.77	C	T	LowQual	0/1	12	None	None	None	0.57728	0.57730					None None	None None None None	APC2\|0.091060491\|53.03%
	View	136	19	rs72975521 dbSNP Clinvar	1093668	45.77	C	G	LowQual	0/1	13	None	None	None	0.28135	0.28130					None None	None None None None	POLR2E\|0.36056114\|23.41%
	View	136	19	rs6843 dbSNP Clinvar	1088285	36.77	T	C	LowQual	0/1	9	None	None	None	0.73722	0.73720					None None	None None None None	POLR2E\|0.36056114\|23.41%
	View	136	19	rs200141179 dbSNP Clinvar	230130	49.73	GATC	G	LowQual	0/1	16	None	None	None	0.42592	0.42590					None None	None None None None	None
	View	136	18	rs533924855,rs397940490 dbSNP Clinvar	63417460	42.79	T	TA	LowQual	0/1	11	None	None	None							None None	None None None None	None
	View	136	18	rs78972202 dbSNP Clinvar	43590960	37.77	A	G	LowQual	0/1	16	None	None	None	0.01597	0.01597					None None	None None None None	PSTPIP2\|0.170188293\|40.29%
	View	136	18	rs9950550 dbSNP Clinvar	43456075	42.77	C	T	LowQual	0/1	11	None	None	None	0.15016	0.15020					None None	None None None None	EPG5\|0.11400521\|48.49%
	View	136	18	.	43308968	31.77	G	A	LowQual	0/1	13	None	None	None							None None	None None None None	SLC14A1\|0.045415617\|64.08%
	View	136	18	rs1484877 dbSNP Clinvar	43303932	40.77	G	C	LowQual	0/1	13	None	None	None	0.69788	0.69790					None None	None None None None	None
	View	136	18	.	21123311	41.73	G	GA	LowQual	0/1	22	None	None	None							None None	None None None None	NPC1\|0.141724211\|44.18%
	View	136	18	rs376213367 dbSNP Clinvar	12337642	49.73	CCAG	C	LowQual	0/1	16	None	None	None							None None	None None None None	TUBB6\|0.061114418\|59.56%,AFG3L2\|0.258891122\|30.83%
	View	136	18	rs2071140 dbSNP Clinvar	11872516	49.77	T	C	LowQual	0/1	12	None	None	None	0.24461	0.24460					None None	None None None None	GNAL\|0.553411406\|13.57%
	View	136	18	.	12029107	39.25	G	GT	LowQual	0/1	7	None	None	None							None None	None None None None	IMPA2\|0.105612211\|50.11%
	View	136	18	.	109963	37.77	G	T	LowQual	0/1	8	None	None	None							None None	None None None None	None
	View	136	18	rs1036180249 dbSNP Clinvar	109940	37.77	A	G	LowQual	0/1	8	None	None	None							None None	None None None None	None
	View	136	18	rs891797959 dbSNP Clinvar	108545	31.77	G	A	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	18	.	108514	31.77	G	C	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	18	rs879214062 dbSNP Clinvar	108508	37.77	C	A	LowQual	0/1	6	None	None	None							None None	None None None None	None
	View	136	18	.	108496	31.77	C	T	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	17	rs4968843 dbSNP Clinvar	67144197	40.77	G	A	LowQual	0/1	10	None	None	None	0.72324	0.72320					None None	None None None None	ABCA10\|0.002179826\|90.49%
	View	136	17	rs3764869 dbSNP Clinvar	60744406	48.77	C	A	LowQual	0/1	11	None	None	None	0.04653	0.04653					None None	None None None None	MRC2\|0.148810988\|43.17%
	View	136	17	rs879845887 dbSNP Clinvar	60349879	47.77	G	A	LowQual	0/1	16	None	None	None							None None	None None None None	None
	View	136	17	rs34933904,rs397857608 dbSNP Clinvar	58288203	40.73	TA	T	LowQual	0/1	11	None	None	None							None None	None None None None	USP32\|0.442114666\|18.55%
	View	136	17	rs560595610 dbSNP Clinvar	58091946	31.77	G	C	LowQual	0/1	10	None	None	None		0.00040					None None	None None None None	None
	View	136	17	rs879822273 dbSNP Clinvar	58091945	31.77	T	C	LowQual	0/1	10	None	None	None							None None	None None None None	None
	View	136	17	.	53241799	45.87	C	CTT	LowQual	0/1	5	None	None	None							None None	None None None None	None
	View	136	17	rs12451302 dbSNP Clinvar	48751164	43.77	T	G	LowQual	0/1	13	None	None	None	0.59605	0.59600					None None	None None None None	ABCC3\|0.044769991\|64.26%
	View	136	17	rs536788076 dbSNP Clinvar	40856573	47.73	GA	G	LowQual	0/1	12	None	None	None							None None	None None None None	EZH1\|0.324570834\|25.83%
	View	136	17	.	39507147	49.87	CTT	C	LowQual	0/1	5	None	None	None							None None	None None None None	None
	View	136	17	rs6503601 dbSNP Clinvar	39280487	36.77	A	C	LowQual	0/1	17	None	None	None	0.66374	0.66370					None None	None None None None	None
	View	136	17	rs139141843,rs398119821 dbSNP Clinvar	38133914	47.73	G	GA	LowQual	0/1	16	None	None	None	0.31430	0.31430					None None	None None None None	GSDMA\|0.08984738\|53.26%
	View	136	17	rs13380815 dbSNP Clinvar	38027583	49.77	A	G	LowQual	0/1	10	None	None	None	0.33486	0.33490					None None	None None None None	ZPBP2\|0.077013181\|55.9%
	View	136	17	rs112940938 dbSNP Clinvar	22260656	49.77	G	C	LowQual	0/1	19	None	None	None							None None	None None None None	None
	View	136	17	rs75103825 dbSNP Clinvar	22260654	49.77	A	G	LowQual	0/1	19	None	None	None							None None	None None None None	None
	View	136	17	rs4319797 dbSNP Clinvar	22253231	47.77	C	T	LowQual	0/1	16	None	None	None							None None	None None None None	None
	View	136	17	rs2240578 dbSNP Clinvar	10219470	39.77	A	T	LowQual	0/1	15	None	None	None	0.57508	0.57510					None None	None None None None	MYH13\|0.061120248\|59.55%
	View	136	17	rs71359697 dbSNP Clinvar	8416098	43.77	C	T	LowQual	0/1	13	None	None	None	0.23482	0.23480					None None	None None None None	MYH10\|0.223015976\|34.06%
	View	136	17	rs76356992 dbSNP Clinvar	18406639	42.77	T	C	LowQual	0/1	16	None	None	None							None None	None None None None	None
	View	136	17	rs62076333 dbSNP Clinvar	18406248	43.77	C	T	LowQual	0/1	19	None	None	None							None None	None None None None	None
	View	136	17	.	7804822	31.73	G	GTTTT	LowQual	0/1	7	None	None	None							None None	None None None None	CHD3\|0.476648127\|16.92%

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FREQUENCIES

SCORES

+ Genes 22

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

VCX3B

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed