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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

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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:
ACIN1, ACTRT2, ARG2, C14orf180, CABLES1, CACNA1B, CC2D2A, CCDC33, CHRNA3, DLEC1, DMTF1, FAM230A, FBXL21, GOLGA6L2, GPR112, KCNJ12, KRTAP17-1, LRRC17, MAML3, MAP3K1, MST1, MUC4, NUCB2, NUTM2F, OR4X1, PIK3C2G, PLK5, PPIL4, PTPN18, RP11-166B2.1, RRP36, TMIE, TP53TG5, UGGT1, USP20, WDR81, ZNF283, ZNF284,

+ Genes associated with diseases 6

Genes at Omim

CACNA1B, CC2D2A, CHRNA3, MAP3K1, TMIE, WDR81,

CACNA1B	?Dystonia 23, 614860 (3)
CC2D2A	COACH syndrome, 216360 (3) Joubert syndrome 9, 612285 (3) Meckel syndrome 6, 612284 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
TMIE	Deafness, autosomal recessive 6, 600971 (3)
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)

Genes at Clinical Genomics Database

CACNA1B, CC2D2A, MAP3K1, TMIE, WDR81,

CACNA1B	Dystonia 23
CC2D2A	Joubert syndrome 9 Meckel syndrome 6 COACH syndrome
MAP3K1	46,XY sex reversal 6
TMIE	Deafness, autosomal recessive 6
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 41
Number of Genes: 38

Export to: CSV

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ACIN1
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	pdb346 vep	14	rs781019754 dbSNP Clinvar	23549352	1219.73	TAGG	T	.	0/1	54	CODON_DELETION	MODERATE	None							None None	None None None None	ACIN1\|0.717450786\|8.04%
ACTRT2
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	pdb346 vep	1	rs4013154 dbSNP Clinvar	2938407	2139.73	CAGA	C	.	1/1	50	CODON_DELETION	MODERATE	None	0.11242	0.11240	0.12492				None None	None None None None	ACTRT2\|0.018444598\|74.99%
ARG2
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	pdb346 vep	14	rs35418251 dbSNP Clinvar	68108962	833.73	TACA	T	.	0/1	46	CODON_DELETION	MODERATE	None	0.00240	0.00240	0.00807				None None	None None None None	ARG2\|0.25607702\|31.03%
C14orf180
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	pdb346 vep	14	rs111285011,rs750841137,rs11278058,rs569942489 dbSNP Clinvar	105055118	236.73	TG...	T	.	0/1	14	CODON_DELETION	MODERATE	None	0.60144	0.60140	0.37790				None None	None None None None	TMEM179\|0.016981919\|75.87%,C14orf180\|0.001311006\|93.82%
CABLES1
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	pdb346 vep	18	rs139352344 dbSNP Clinvar	20716014	367.73	GG...	G	.	0/1	15	CODON_DELETION	MODERATE	None	0.22424	0.22420					None None	None None None None	CABLES1\|0.229324595\|33.42%
CACNA1B
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	pdb346 vep	9	rs145816559,rs370787788 dbSNP Clinvar	140918170	429.73	TG...	T	.	0/1	38	CODON_DELETION	MODERATE	None	0.39736	0.39740	0.24153				None None	None None None None	CACNA1B\|0.168604934\|40.5%
CC2D2A
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	pdb346 vep	4	rs386833764 dbSNP Clinvar	15513004	455.73	GGAA	G	.	0/1	41	CODON_DELETION	MODERATE	None	0.04333	0.04333	0.05495				None None	None None None None	CC2D2A\|0.011782601\|79.39%
CCDC33
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	pdb346 vep	15	rs10552820,rs35899977,rs397774110 dbSNP Clinvar	74536400	663.73	TAAG	T	.	0/1	47	CODON_DELETION	MODERATE	None	0.37700	0.37700	0.46150				None None	None None None None	CCDC33\|0.011870787\|79.31%
CHRNA3
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	pdb346 vep	15	rs66793222,rs143833222,rs60706203 dbSNP Clinvar	78913067	185.73	ACAG	A	.	0/1	9	CODON_DELETION	MODERATE	None							None None	None None None None	CHRNA3\|0.230381335\|33.33%
DLEC1
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	pdb346 vep	3	rs144512522,rs61108705 dbSNP Clinvar	38164070	616.73	CATG	C	.	0/1	33	CODON_DELETION	MODERATE	None	0.12081	0.12080	0.14367				None None	None None None None	DLEC1\|0.00947585\|81.3%,ACAA1\|0.152807913\|42.57%
DMTF1
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	pdb346 vep	7	rs148453627 dbSNP Clinvar	86795880	1581.73	TTGA	T	.	0/1	72	CODON_DELETION	MODERATE	None	0.00859	0.00859					None None	None None None None	DMTF1\|0.708314875\|8.26%
FAM230A
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	pdb346 vep	22	rs761653586 dbSNP Clinvar	20710186	136.73	TC...	T	.	0/1	33	CODON_DELETION	MODERATE	None							None None	None None None None	FAM230A\|0.000608157\|97.89%,USP41\|0.001419633\|93.25%
FBXL21
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	pdb346 vep	5	rs1160982,rs568134250 dbSNP Clinvar	135276201	1427.73	AGTT	A	.	1/1	33	CODON_DELETION	MODERATE	None	0.73423	0.73420	0.30509				None None	None None None None	LECT2\|0.064888014\|58.67%
GOLGA6L2
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	pdb346 vep	15	rs779250776 dbSNP Clinvar	23686088	70.73	TCTC	T	.	0/1	55	CODON_DELETION	MODERATE	None							None None	None None None None	GOLGA6L2\|0.000844228\|96.42%
GPR112
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	pdb346 vep	X	rs34255702,rs563570937 dbSNP Clinvar	135474444	3245.73	AGAT	A	.	1/1	74	CODON_DELETION	MODERATE	None	0.73722	0.73720	0.36492				None None	None None None None	ADGRG4\|0.00835627\|82.29%
KCNJ12
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	pdb346 vep	17	rs112163749 dbSNP Clinvar	21319650	856.73	CGAG	C	.	0/1	98	CODON_DELETION	MODERATE	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
KRTAP17-1
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	pdb346 vep	17	rs796334391,rs796251471 dbSNP Clinvar	39471752	288.73	TG...	T	.	0/1	18	CODON_DELETION	MODERATE	None	0.23243	0.23240	0.21027				None None	None None None None	KRTAP17-1\|0.012669369\|78.77%
LRRC17
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	pdb346 vep	7	rs3832497,rs531650613 dbSNP Clinvar	102574999	2747.73	TGAA	T	.	1/1	63	CODON_DELETION	MODERATE	None	0.63179	0.63180	0.25633				None None	None None None None	FBXL13\|0.013552601\|78.17%,LRRC17\|0.102449665\|50.7%
MAML3
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	pdb346 vep	4	rs5862430,rs758674725,rs397881377,rs3051167 dbSNP Clinvar	140651584	1357.73	TCTG	T	.	1/1	33	CODON_DELETION	MODERATE	None	0.99101	0.99100					None None	None None None None	MGST2\|0.034049931\|67.77%,MAML3\|0.444017284\|18.48%
MAP3K1
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	pdb346 vep	5	rs5868032,rs869174877,rs869264361,rs10552703,rs398064829 dbSNP Clinvar	56177848	1000.73	TCAA	T	.	0/1	54	CODON_DELETION	MODERATE	None							None None	None None None None	MAP3K1\|0.554683454\|13.53%
MST1
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	pdb346 vep	3	rs754122895 dbSNP Clinvar	49723321	338.73	AG...	A	.	0/1	167	CODON_DELETION	MODERATE	None							None None	None None None None	MST1\|0.051015484\|62.36%
MUC4
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	pdb346 vep	3	rs779342680 dbSNP Clinvar	195509579	2773.73	CG...	C	.	0/1	145	CODON_DELETION	MODERATE	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	pdb346 vep	3	.	195511238	1529.73	CG...	C	.	0/1	752	CODON_DELETION	MODERATE	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	pdb346 vep	3	rs762245803 dbSNP Clinvar	195511031	69.73	AT...	A	.	0/1	304	CODON_DELETION	MODERATE	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	pdb346 vep	3	rs779080648 dbSNP Clinvar	195506270	4741.73	GA...	G	.	1/1	108	CODON_DELETION	MODERATE	None			0.14819				None None	None None None None	MUC4\|0.005441696\|85.29%
NUCB2
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	pdb346 vep	11	rs3842269,rs535406012 dbSNP Clinvar	17352477	2556.73	TACA	T	.	1/1	58	CODON_DELETION	MODERATE	None	0.25359	0.25360	0.22995				None None	None None None None	NUCB2\|0.293597468\|28.15%
NUTM2F
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	pdb346 vep	9	rs150455117 dbSNP Clinvar	97080944	1086.73	GAGA	G	.	0/1	67	CODON_DELETION	MODERATE	None	0.75419	0.75420	0.29501				None None	None None None None	NUTM2F\|0.000786519\|96.75%
OR4X1
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	pdb346 vep	11	rs76884411,rs57294041 dbSNP Clinvar	48285981	3734.73	CCTT	C	.	1/1	86	CODON_DELETION	MODERATE	None	0.60403	0.60400	0.30860				None None	None None None None	OR4X1\|0.01331956\|78.29%
PIK3C2G
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	pdb346 vep	12	rs35277916,rs796435817 dbSNP Clinvar	18435398	487.73	GCCC	G	.	0/1	31	CODON_DELETION	MODERATE	None	0.30831	0.30830	0.34238				None None	None None None None	RERGL\|0.064599802\|58.71%,PIK3C2G\|0.036855769\|66.84%
PLK5
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	pdb346 vep	19	rs58035688,rs796379895 dbSNP Clinvar	1535193	694.73	GCCC	G	.	0/1	49	CODON_DELETION	MODERATE	None	0.45867	0.45870					None None	None None None None	PLK5\|0.003429971\|87.9%
PPIL4
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	pdb346 vep	6	rs535267469 dbSNP Clinvar	149833416	672.73	CT...	C	.	0/1	51	CODON_DELETION	MODERATE	None			0.00064				None None	None None None None	PPIL4\|0.371048194\|22.65%
PTPN18
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	pdb346 vep	2	rs112040677 dbSNP Clinvar	131129928	289.73	AG...	A	.	0/1	18	CODON_DELETION	MODERATE	None	0.34425	0.34420	0.28081				None None	None None None None	PTPN18\|0.008124446\|82.52%
RP11-166B2.1
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	pdb346 vep	16	rs765933829 dbSNP Clinvar	12021298	1379.73	GT...	G	.	0/1	121	CODON_DELETION	MODERATE	None							None None	None None None None	None
RRP36
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	pdb346 vep	6	rs200886831,rs753769770,rs551189349 dbSNP Clinvar	42989413	202.73	CG...	C	.	0/1	10	CODON_DELETION	MODERATE	None							None None	None None None None	RRP36\|0.058705123\|60.22%
TMIE
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	pdb346 vep	3	rs10578999,rs397817178 dbSNP Clinvar	46751073	1198.73	TAAG	T	.	1/1	28	CODON_DELETION	MODERATE	None		0.75320					None None	None None None None	TMIE\|0.142194222\|44.12%
TP53TG5
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	pdb346 vep	20	rs10546815,rs562359566 dbSNP Clinvar	44004155	439.73	CATT	C	.	0/1	36	CODON_DELETION	MODERATE	None	0.38658	0.38660	0.48961				None None	None None None None	SYS1\|0.552810093\|13.61%,TP53TG5\|0.004045663\|86.94%
UGGT1
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	pdb346 vep	2	.	128910410	632.73	ATGT	A	.	0/1	49	CODON_DELETION	MODERATE	None							None None	None None None None	UGGT1\|0.159062304\|41.71%
USP20
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	pdb346 vep	9	rs10602985,rs760862530,rs398096692 dbSNP Clinvar	132630664	1368.73	TGAC	T	.	1/1	32	CODON_DELETION	MODERATE	None	0.84864	0.84860	0.19048				None None	None None None None	USP20\|0.195223584\|37.23%
WDR81
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	pdb346 vep	17	rs35048651,rs577690948 dbSNP Clinvar	1631340	848.73	TGAG	T	.	0/1	42	CODON_DELETION	MODERATE	None	0.21186	0.21190	0.18584				None None	None None None None	WDR81\|0.133896381\|45.31%
ZNF283
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	pdb346 vep	19	rs79626467,rs71907168 dbSNP Clinvar	44351166	2179.73	GG...	G	.	1/1	50	CODON_DELETION	MODERATE	None	0.38778	0.38780	0.38758				None None	None None None None	ZNF283\|0.014136174\|77.77%
ZNF284
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	pdb346 vep	19	rs139900131,rs369411341 dbSNP Clinvar	44589999	1364.73	TCTC	T	.	0/1	61	CODON_DELETION	MODERATE	None	0.45088	0.45090	0.44731				None None	None None None None	ZNF284\|0.000961429\|95.72%