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

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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:
ACTRT2, ARHGAP39, AXDND1, C14orf180, C1orf170, CABLES1, CACNA1A, CACNA1B, CARD10, CBX8, CCDC33, CHRNA3, CLIC1, DACH1, DENND4B, EIF2AK3, FAM47A, FBXL21, GPR112, HDGFRP2, HLA-DQA1, HLA-DRB5, HYDIN, IGLV4-69, KCNJ12, KIAA2018, KIF1A, KRT1, LRRC17, MAML3, MAP3K1, MAP7D1, MUC19, MUC4, NINL, NUTM2F, OGFRL1, OR4X1, OTUD7A, PER3, PLK5, PLN, RAI1, RFPL1, SP8, SRSF8, TAF4, TMIE, TP53TG5, TSKS, TSPYL6, UBXN11, USP20, ZNF283, ZNF284, ZNF34,

+ Genes associated with diseases 13

Genes at Omim

CACNA1A, CACNA1B, CHRNA3, EIF2AK3, HLA-DQA1, HYDIN, KIF1A, KRT1, MAP3K1, PER3, PLN, RAI1, TMIE,

CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CACNA1B	?Dystonia 23, 614860 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KRT1	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PLN	Cardiomyopathy, dilated, 1P, 609909 (3) Cardiomyopathy, hypertrophic, 18, 613874 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
TMIE	Deafness, autosomal recessive 6, 600971 (3)

Genes at Clinical Genomics Database

CACNA1A, CACNA1B, EIF2AK3, KIF1A, KRT1, MAP3K1, PER3, PLN, RAI1, TMIE,

CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CACNA1B	Dystonia 23
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
MAP3K1	46,XY sex reversal 6
PER3	Advanced sleep phase syndrome, familial, 3
PLN	Cardiomyopathy, dilated, 1P Cardiomyopathy, familial hypertrophic, 18
RAI1	Smith-Magenis syndrome
TMIE	Deafness, autosomal recessive 6

Genes at HGMD

Summary

Number of Variants: 58
Number of Genes: 56

Export to: CSV

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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	child filtered_variants	1	rs4013154 dbSNP Clinvar	2938407	5441.12	CAGA	C	PASS	0/1	190	CODON_DELETION	MODERATE		0.11242	0.11240	0.12492				None None	None None None None	ACTRT2\|0.018444598\|74.99%
ARHGAP39
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	child filtered_variants	8	rs138155129 dbSNP Clinvar	145773341	7007.12	TCTG	T	PASS	0/1	231	CODON_DELETION	MODERATE		0.01777	0.01777	0.05398				None None	None None None None	ARHGAP39\|0.083072421\|54.56%
AXDND1
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	child filtered_variants	1	rs141228272 dbSNP Clinvar	179504025	3883.12	AAAG	A	PASS	0/1	104	CODON_DELETION	MODERATE								None None	None None None None	AXDND1\|0.018165173\|75.2%
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	child filtered_variants	14	rs111285011,rs750841137,rs11278058,rs569942489 dbSNP Clinvar	105055118	1168.12	TG...	T	PASS	0/1	52	CODON_DELETION	MODERATE		0.60144	0.60140	0.37790				None None	None None None None	TMEM179\|0.016981919\|75.87%,C14orf180\|0.001311006\|93.82%
C1orf170
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	child filtered_variants	1	rs748758211 dbSNP Clinvar	914414	5185.12	CGAA	C	PASS	0/1	143	CODON_DELETION	MODERATE								None None	None None None None	PERM1\|0.000651256\|97.53%
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	child filtered_variants	18	rs139352344 dbSNP Clinvar	20716014	1486.86	GG...	G	PASS	0/1	23	CODON_DELETION	MODERATE		0.22424	0.22420					None None	None None None None	CABLES1\|0.229324595\|33.42%
CACNA1A
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	child filtered_variants	19	rs16054 dbSNP Clinvar	13318672	2137.09	CC...	C,...	PASS	1/2	33	CODON_DELETION	MODERATE								None None	None None None None	CACNA1A\|0.210424701\|35.52%
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	child filtered_variants	9	rs145816559,rs370787788 dbSNP Clinvar	140918170	1479.12	TG...	T	PASS	0/1	62	CODON_DELETION	MODERATE		0.39736	0.39740	0.24153				None None	None None None None	CACNA1B\|0.168604934\|40.5%
CARD10
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	child filtered_variants	22	rs113275238,rs60611523 dbSNP Clinvar	37906308	4485.86	GC...	G	PASS	0/1	98	CODON_DELETION	MODERATE		0.01777	0.30970					None None	None None None None	CARD10\|0.081670514\|54.84%
CBX8
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	child filtered_variants	17	rs564277970 dbSNP Clinvar	77769120	3825.12	GA...	G	PASS	0/1	127	CODON_DELETION	MODERATE		0.00100	0.00100	0.00248				None None	None None None None	CBX8\|0.065575497\|58.47%