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

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+ Genes 2

Genes:
CNOT6L, DCAF8L2,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 121
Number of Genes: 2

Export to: CSV

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CNOT6L
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	combined sample_43.variant7	4	rs371841161 dbSNP Clinvar	78740203	76.54	G	GA...	PASS	3/3	20	None	None	None	0.54732	0.54730					None None	None None None None	CNOT6L\|0.809704188\|5.58%
DCAF8L2
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	combined sample_43.variant7	X	rs751414438 dbSNP Clinvar	27765399	807.82	AG...	AG...	PASS	3/3	14	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DCAF8L2\|0.000974393\|95.61%
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	combined sample_43.variant7	1	rs201290854 dbSNP Clinvar	203047880	77.01	CT...	CT...	PASS	3/3	14	None	None	None	0.93291	0.93290					None None	None None None None	None
	View	combined sample_43.variant7	1	rs528097252 dbSNP Clinvar	245025697	485.6	T	TA...	PASS	3/3	43	None	None	None	0.49301						None None	None None None None	HNRNPU\|0.730032252\|7.66%
	View	combined sample_43.variant7	3	.	157296325	110.82	CAT	C,...	PASS	3/3	2	None	None	None	0.15815						None None	None None None None	PQLC2L\|0.002169535\|90.52%
	View	combined sample_43.variant7	3	.	193272442	1001.43	CG...	CG...	PASS	3/3	18	None	None	None							None None	None None None None	ATP13A4\|0.189604914\|37.86%
	View	combined sample_43.variant7	4	rs770179690 dbSNP Clinvar	4288373	966.99	CTT	C,...	PASS	3/3	63	None	None	None							None None	None None None None	LYAR\|0.040453021\|65.63%
	View	combined sample_43.variant7	5	.	37813662	54.21	CTTT	CT...	PASS	3/3	9	None	None	None							None None	None None None None	GDNF\|0.991972405\|1.02%
	View	combined sample_43.variant7	6	.	32551794	202.06	TC...	TC...	PASS	3/3	59	None	None	None							None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
	View	combined sample_43.variant7	7	rs143376319,rs57908849 dbSNP Clinvar	1786938	497.82	C	CC...	PASS	3/3	20	None	None	None							None None	None None None None	ELFN1\|0.050148349\|62.62%
	View	combined sample_43.variant7	7	.	2409400	93.73	AT...	AT...	PASS	3/3	11	None	None	None							None None	None None None None	EIF3B\|0.173808173\|39.81%
	View	combined sample_43.variant7	7	.	125588526	321.6	GAAGA	G,...	PASS	3/3	1	None	None	None							None None	None None None None	None
	View	combined sample_43.variant7	8	.	121583719	390.73	GT...	GT...	PASS	3/3	5	None	None	None							None None	None None None None	SNTB1\|0.318903377\|26.2%
	View	combined sample_43.variant7	10	rs778997506 dbSNP Clinvar	31663975	86.34	TA...	TA...	PASS	3/3	13	None	None	None							None None	None None None None	ZEB1\|0.848008697\|4.69%
	View	combined sample_43.variant7	10	rs368691152,rs3028478 dbSNP Clinvar	32094576	1290.37	TC...	T,...	PASS	3/3	47	None	None	None							None None	None None None None	ARHGAP12\|0.284417118\|28.76%
	View	combined sample_43.variant7	10	rs71012215 dbSNP Clinvar	72328154	472.9	AT	AT...	PASS	3/3	18	None	None	None	0.57468	0.57470					None None	None None None None	PALD1\|0.038632473\|66.24%
	View	combined sample_43.variant7	10	rs149340711,rs769314931,rs536057010 dbSNP Clinvar	124189010	820.46	TT...	TT...	PASS	3/3	61	None	None	None	0.61122	0.61120					None None	None None None None	PLEKHA1\|0.447001935\|18.3%
	View	combined sample_43.variant7	12	.	9441105	465.68	CT...	CT...	PASS	3/3	44	None	None	None							None None	None None None None	None
	View	combined sample_43.variant7	12	rs34231653,rs386376908,rs386376909,rs56248724 dbSNP Clinvar	70214638	49.13	G	GA...	PASS	3/3	11	None	None	None	0.62280	0.62280					None None	None None None None	RAB3IP\|0.376741643\|22.28%
	View	combined sample_43.variant7	12	rs578157537,rs868804257 dbSNP Clinvar	104366864	1035.68	A	AT...	PASS	3/3	41	None	None	None	0.85903	0.85900					None None	None None None None	TDG\|0.358733871\|23.52%
	View	combined sample_43.variant7	12	.	123960444	116.34	AT...	AT...	PASS	3/3	4	None	None	None							None None	None None None None	RILPL1\|0.111552921\|48.92%
	View	combined sample_43.variant7	14	.	96922575	320.53	CA...	CA...	PASS	3/3	12	None	None	None							None None	None None None None	AK7\|0.025423977\|71.6%
	View	combined sample_43.variant7	15	.	41005075	123.66	CT	CT...	PASS	3/3	21	None	None	None							None None	None None None None	RAD51\|0.919979281\|2.99%
	View	combined sample_43.variant7	16	.	47005573	76.66	T	TA...	PASS	3/3	6	None	None	None	0.83427						None None	None None None None	DNAJA2\|0.433350278\|19.03%
	View	combined sample_43.variant7	17	rs552478770,rs59523807 dbSNP Clinvar	60654327	121.0	CT	CT...	PASS	3/3	6	None	None	None	0.34685	0.34680					None None	None None None None	TLK2\|0.587006511\|12.26%
	View	combined sample_43.variant7	17	rs565961332,rs67761124,rs398031601 dbSNP Clinvar	73214683	119.48	G	GT...	PASS	3/3	6	None	None	None	0.79992	0.79990					None None	None None None None	NUP85\|0.371302082\|22.64%
	View	combined sample_43.variant7	19	rs3051476 dbSNP Clinvar	1780972	696.41	T	TA...	PASS	3/3	14	None	None	None	0.36582						None None	None None None None	ONECUT3\|0.017168355\|75.74%
	View	combined sample_43.variant7	19	rs778166429 dbSNP Clinvar	33444773	343.98	CTTT	C,...	PASS	3/3	18	None	None	None							None None	None None None None	CEP89\|0.007695004\|82.86%
	View	combined sample_43.variant7	20	.	6019907	3147.1	TT...	TT...	PASS	3/3	163	None	None	None							None None	None None None None	CRLS1\|0.208198855\|35.79%
	View	combined sample_43.variant7	X	rs765743833,rs60152703 dbSNP Clinvar	46508505	451.64	A	AT...	PASS	3/3	9	None	None	None	0.47285	0.47280					None None	None None None None	SLC9A7\|0.345909347\|24.42%
	View	combined sample_43.variant7	1	.	203052311	215.0	CA...	CA...	PASS	3/3	4	None	None	None							None None	None None None None	MYOG\|0.988197167\|1.15%
	View	combined sample_43.variant7	X	rs201935330 dbSNP Clinvar	122622933	216.12	TACAC	TA...	PASS	3/3	11	None	None	None							None None	None None None None	GRIA3\|0.935818586\|2.64%
	View	combined sample_43.variant7	1	.	165621129	319.55	CA...	CA...	PASS	3/3	12	None	None	None							None None	None None None None	MGST3\|0.046405892\|63.77%
	View	combined sample_43.variant7	1	.	202565426	380.73	CA...	C,...	PASS	3/3	4	None	None	None							None None	None None None None	SYT2\|0.326014466\|25.75%
	View	combined sample_43.variant7	3	rs748924992 dbSNP Clinvar	119459682	32.68	TTG	TT...	PASS	3/3	7	None	None	None							None None	None None None None	MAATS1\|0.035013324\|67.47%
	View	combined sample_43.variant7	3	.	97727642	253.81	CA...	CA...	PASS	3/3	6	None	None	None							None None	None None None None	None
	View	combined sample_43.variant7	3	rs770031001 dbSNP Clinvar	119348345	1092.9	AT	AT...	PASS	3/3	74	None	None	None							None None	None None None None	PLA1A\|0.038413908\|66.33%
	View	combined sample_43.variant7	3	rs149985093,rs71133568 dbSNP Clinvar	121500479	459.6	TA...	TA...	PASS	3/3	34	None	None	None							None None	None None None None	IQCB1\|0.374314877\|22.44%
	View	combined sample_43.variant7	3	rs77001151,rs369017657 dbSNP Clinvar	187009803	307.14	C	G,...	PASS	3/3	12	None	None	None	0.23842	0.23840					None None	None None None None	MASP1\|0.188756952\|37.98%
	View	combined sample_43.variant7	4	rs766089651,rs550431575 dbSNP Clinvar	15982229	115.39	AT...	AT...	PASS	3/3	13	None	None	None							None None	None None None None	PROM1\|0.156059694\|42.13%
	View	combined sample_43.variant7	4	.	187088665	919.21	CA...	C,...	PASS	3/3	29	None	None	None							None None	None None None None	FAM149A\|0.005566361\|85.14%
	View	combined sample_43.variant7	4	rs879010268 dbSNP Clinvar	160251417	239.47	ATG	AT...	PASS	3/3	8	None	None	None							None None	None None None None	RAPGEF2\|0.393196223\|21.19%
	View	combined sample_43.variant7	5	.	54468577	1315.26	CT...	CT...	PASS	3/3	48	None	None	None							None None	None None None None	CDC20B\|0.017878528\|75.36%
	View	combined sample_43.variant7	5	rs375484670,rs386404300 dbSNP Clinvar	82135830	597.21	C	CA...	PASS	3/3	18	None	None	None	0.97943	0.97940					None None	None None None None	None
	View	combined sample_43.variant7	5	.	131325276	96.27	CT...	CT...	PASS	3/3	13	None	None	None							None None	None None None None	ACSL6\|0.245327247\|31.99%
	View	combined sample_43.variant7	5	rs10689905 dbSNP Clinvar	153709521	92.79	C	CA...	PASS	3/3	2	None	None	None							None None	None None None None	GALNT10\|0.294160996\|28.11%
	View	combined sample_43.variant7	6	rs375022734 dbSNP Clinvar	20212200	762.56	AA...	AA...	PASS	3/3	21	None	None	None							None None	None None None None	MBOAT1\|0.14353671\|43.94%
	View	combined sample_43.variant7	6	.	44246607	2438.02	TAC	TA...	PASS	3/3	58	None	None	None							None None	None None None None	TMEM151B\|0.178433912\|39.22%,TCTE1\|0.063877506\|58.93%
	View	combined sample_43.variant7	6	.	49397962	1046.29	AA...	AA...	PASS	3/3	24	None	None	None							None None	None None None None	None
	View	combined sample_43.variant7	6	.	135356888	40.69	CA...	C,...	PASS	3/3	9	None	None	None							None None	None None None None	HBS1L\|0.447884316\|18.25%
	View	combined sample_43.variant7	6	rs377001028 dbSNP Clinvar	167752312	324.4	G	GT...	PASS	3/3	5	None	None	None	0.74401						None None	None None None None	TTLL2\|0.000565432\|98.1%
	View	combined sample_43.variant7	6	rs142999691 dbSNP Clinvar	167773025	38.25	CT	CT...	PASS	3/3	8	None	None	None							None None	None None None None	TCP10\|0.000628006\|97.7%
	View	combined sample_43.variant7	7	rs774935997,rs55964411 dbSNP Clinvar	150384048	405.78	A	AA...	PASS	3/3	23	None	None	None							None None	None None None None	GIMAP2\|0.001126364\|94.81%
	View	combined sample_43.variant7	8	rs562054942 dbSNP Clinvar	6420073	323.64	CTTT	CT...	PASS	3/3	6	None	None	None	0.73562	0.73560					None None	None None None None	MCPH1\|0.001260573\|94.1%,ANGPT2\|0.704905052\|8.36%
	View	combined sample_43.variant7	8	rs370954109 dbSNP Clinvar	23186222	36.0	A	AT...	PASS	3/3	3	None	None	None							None None	None None None None	LOXL2\|0.142997524\|43.99%
	View	combined sample_43.variant7	8	.	128429439	238.73	TA	TA...	PASS	3/3	11	None	None	None							None None	None None None None	POU5F1B\|0.00671609\|83.83%
	View	combined sample_43.variant7	8	.	146068972	140.75	CA...	CA...	PASS	3/3	2	None	None	None							None None	None None None None	ZNF7\|0.006820577\|83.67%,COMMD5\|0.015195338\|77.01%
	View	combined sample_43.variant7	9	rs557858289,rs56121779 dbSNP Clinvar	34650279	102.44	C	CA...	PASS	3/3	6	None	None	None	0.55811	0.55810					None None	None None None None	GALT\|0.258615009\|30.87%
	View	combined sample_43.variant7	9	.	123787697	724.52	T	TA...	PASS	3/3	16	None	None	None	0.81550						None None	None None None None	C5\|0.070590656\|57.35%
	View	combined sample_43.variant7	9	.	135281990	54.64	TAAAA	TA...	PASS	3/3	4	None	None	None							None None	None None None None	TTF1\|0.003088538\|88.52%
	View	combined sample_43.variant7	10	rs796584400 dbSNP Clinvar	30638208	848.31	TAA	TA...	PASS	3/3	16	None	None	None							None None	None None None None	MTPAP\|0.015555627\|76.75%
	View	combined sample_43.variant7	10	rs879040611 dbSNP Clinvar	96201839	51.54	CTTT	CT...	PASS	3/3	24	None	None	None	0.25100	0.25100					None None	None None None None	TBC1D12\|0.099163411\|51.35%
	View	combined sample_43.variant7	11	rs776747236 dbSNP Clinvar	62040694	5257.61	TAC	TA...	PASS	3/3	256	None	None	None							None None	None None None None	None
	View	combined sample_43.variant7	14	.	94918935	52.73	AA...	AA...	PASS	3/3	2	None	None	None							None None	None None None None	SERPINA11\|0.011142715\|79.93%
	View	combined sample_43.variant7	16	rs768199486 dbSNP Clinvar	5055864	553.11	CAA	CA...	PASS	3/3	46	None	None	None							None None	None None None None	SEC14L5\|0.039278315\|66.01%
	View	combined sample_43.variant7	17	rs750394038,rs869030132 dbSNP Clinvar	7414386	381.34	CA...	CA...	PASS	3/3	12	None	None	None							None None	None None None None	POLR2A\|0.821167438\|5.28%
	View	combined sample_43.variant7	18	rs9304076 dbSNP Clinvar	28572141	89.38	AGGGG	AG...	PASS	3/3	16	None	None	None							None None	None None None None	DSC3\|0.270295411\|29.87%
	View	combined sample_43.variant7	19	.	8962434	1228.38	CT	CT...	PASS	3/3	29	None	None	None							None None	None None None None	MUC16\|0.001379523\|93.47%
	View	combined sample_43.variant7	19	rs146763898,rs60471698 dbSNP Clinvar	17006738	2657.34	A	AC...	PASS	3/3	46	None	None	None							None None	None None None None	CPAMD8\|0.002758584\|89.13%
	View	combined sample_43.variant7	19	.	35630165	185.11	CT...	CT...	PASS	3/3	32	None	None	None							None None	None None None None	LGI4\|0.025787281\|71.42%,FXYD1\|0.073189701\|56.75%
	View	combined sample_43.variant7	19	.	36002895	52.89	CTTT	CT...	PASS	3/3	6	None	None	None							None None	None None None None	DMKN\|0.003521347\|87.74%
	View	combined sample_43.variant7	19	rs74268449,rs398059756 dbSNP Clinvar	44931670	3001.98	TAAA	TA...	PASS	3/3	127	None	None	None	0.10982	0.10980					None None	None None None None	ZNF229\|0.00082353\|96.52%
	View	combined sample_43.variant7	19	rs146201441 dbSNP Clinvar	45515055	47.0	TG...	TG...	PASS	3/3	7	None	None	None							None None	None None None None	RELB\|0.185063371\|38.34%
	View	combined sample_43.variant7	22	rs564219857 dbSNP Clinvar	29240437	325.37	GGAA	GG...	PASS	3/3	5	None	None	None	0.33207	0.33210					None None	None None None None	None
	View	combined sample_43.variant7	22	rs768960142 dbSNP Clinvar	29313256	306.74	AA...	AA...	PASS	3/3	8	None	None	None							None None	None None None None	ZNRF3\|0.247803411\|31.75%
	View	combined sample_43.variant7	22	.	38687900	41.82	CT...	CT...	PASS	3/3	4	None	None	None							None None	None None None None	CSNK1E\|0.501579173\|15.76%
	View	combined sample_43.variant7	22	rs145880629 dbSNP Clinvar	41940440	1786.82	A	AC...	PASS	3/3	120	None	None	None							None None	None None None None	POLR3H\|0.335521518\|25.1%
	View	combined sample_43.variant7	X	rs72215031,rs58983071 dbSNP Clinvar	74589150	4292.93	AT...	AT...	PASS	3/3	87	None	None	None	0.01722	0.01722					None None	None None None None	ZDHHC15\|0.398844078\|20.85%
	View	combined sample_43.variant7	1	rs775657003,rs559389927 dbSNP Clinvar	156495521	132.92	CA...	CA...	PASS	3/3	36	None	None	None							None None	None None None None	IQGAP3\|0.099380714\|51.29%
	View	combined sample_43.variant7	1	.	236924732	272.02	CG...	C,...	PASS	3/3	12	None	None	None							None None	None None None None	ACTN2\|0.55570405\|13.49%
	View	combined sample_43.variant7	2	.	125505191	73.13	CT...	CT...	PASS	3/3	2	None	None	None							None None	None None None None	CNTNAP5\|0.354331407\|23.81%
	View	combined sample_43.variant7	2	rs571309687 dbSNP Clinvar	169104054	2204.67	C	CC...	PASS	3/3	47	None	None	None	0.42931	0.42930					None None	None None None None	STK39\|0.757526204\|6.91%
	View	combined sample_43.variant7	3	.	110830746	888.14	AT...	A,...	PASS	3/3	23	None	None	None							None None	None None None None	PVRL3\|0.348101522\|24.27%
	View	combined sample_43.variant7	3	.	151538304	596.94	CTT	CT...	PASS	3/3	17	None	None	None							None None	None None None None	AADAC\|0.00221398\|90.39%
	View	combined sample_43.variant7	4	rs375911533 dbSNP Clinvar	47034144	231.56	G	GA...	PASS	3/3	8	None	None	None							None None	None None None None	GABRB1\|0.572974725\|12.87%
	View	combined sample_43.variant7	4	.	77494534	142.73	CA...	CA...	PASS	3/3	4	None	None	None							None None	None None None None	SHROOM3\|0.017530473\|75.58%
	View	combined sample_43.variant7	5	rs772187512 dbSNP Clinvar	5232713	63.92	CTTTT	CT...	PASS	3/3	8	None	None	None							None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	combined sample_43.variant7	6	rs112090949,rs34998457 dbSNP Clinvar	11192829	117.41	C	CT...	PASS	3/3	5	None	None	None	0.00300	0.16350					None None	None None None None	NEDD9\|0.274702468\|29.54%
	View	combined sample_43.variant7	6	rs757906710,rs376735509 dbSNP Clinvar	42608124	286.22	GT...	GG...	PASS	3/3	27	None	None	None	0.73183	0.73180					None None	None None None None	UBR2\|0.353289156\|23.87%
	View	combined sample_43.variant7	6	.	123102885	66.15	CTTT	CT...	PASS	3/3	17	None	None	None							None None	None None None None	FABP7\|0.219483528\|34.44%
	View	combined sample_43.variant7	7	rs5886103,rs535986118 dbSNP Clinvar	98956159	30.28	CTT	CT...	PASS	3/3	12	None	None	None							None None	None None None None	ARPC1A\|0.420074509\|19.57%
	View	combined sample_43.variant7	7	.	103132303	137.98	TC...	T,...	PASS	3/3	4	None	None	None							None None	None None None None	RELN\|0.98955323\|1.1%
	View	combined sample_43.variant7	7	rs751273472 dbSNP Clinvar	111926896	154.81	CTTT	CT...	PASS	3/3	16	None	None	None							None None	None None None None	ZNF277\|0.262816122\|30.48%
	View	combined sample_43.variant7	7	rs59993749,rs1919521 dbSNP Clinvar	151668225	534.23	A	T,...	PASS	3/3	10	None	None	None	0.88019	0.88020					None None	None None None None	GALNTL5\|0.001268389\|94.06%
	View	combined sample_43.variant7	8	.	97156472	178.08	TA...	TA...	PASS	3/3	6	None	None	None							None None	None None None None	GDF6\|0.469958527\|17.17%
	View	combined sample_43.variant7	9	rs149743267,rs761717267,rs59489637 dbSNP Clinvar	19573483	228.68	AA...	A,...	PASS	3/3	22	None	None	None							None None	None None None None	SLC24A2\|0.390081282\|21.42%
	View	combined sample_43.variant7	9	rs72109422,rs59230883 dbSNP Clinvar	100689450	31.05	TA...	TA...	PASS	3/3	24	None	None	None							None None	None None None None	HEMGN\|0.02350641\|72.42%
	View	combined sample_43.variant7	9	rs531558479 dbSNP Clinvar	136404775	1248.66	AC...	AC...	PASS	3/3	11	None	None	None	0.01917	0.01917					None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
	View	combined sample_43.variant7	10	.	11791772	229.09	CT...	CT...	PASS	3/3	15	None	None	None							None None	None None None None	ECHDC3\|0.029496468\|69.61%
	View	combined sample_43.variant7	12	rs869026889 dbSNP Clinvar	461269	35.09	CA...	CA...	PASS	3/3	16	None	None	None							None None	None None None None	KDM5A\|0.438087268\|18.78%

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