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

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SCORES

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CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ANAPC1, ARMS2, ARSD, C5orf20, CAPN8, CASP12, CDH15, CEP170, CLDN5, CLEC4F, CPN2, CYP2D7P, FLG2, FMO6P, FRG1B, FUT6, GAB4, GZMB, HPS4, IDO2, IFNA10, IFNA4, IGHV3OR16-13, KRTAP10-6, LCN10, LINC00955, LPL, MAP2K3, MOB3C, MUC19, MUC3A, NAT1, NPDC1, NPIPA2, OBSCN, OR10D3, OR10V1, OR10X1, OR1B1, OR2L8, OR2T29, OR2T5, OR4C3, OR4P4, OR4X1, OR51Q1, OR5AR1, OR6C74, OTOA, P4HA3, PCDHA4, PDE4DIP, PKD1L2, RARA, RHPN2, SLC35G6, SPERT, SYNE2, TAS2R46, TCP11L1, TRBV10-1, TTC4, UBE2NL, USP29, VWDE, ZACN, ZC3H3, ZNF117,

+ Genes associated with diseases 9

Genes at Omim

CASP12, CDH15, FLG2, FUT6, HPS4, LPL, OTOA, RARA, SYNE2,

CASP12	{Sepsis, susceptibility to} (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
FLG2	Peeling skin syndrome 6, 618084 (3)
FUT6	Fucosyltransferase 6 deficiency, 613852 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
LPL	Combined hyperlipidemia, familial, 144250 (3) Lipoprotein lipase deficiency, 238600 (3) [High density lipoprotein cholesterol level QTL 11] (3)
OTOA	Deafness, autosomal recessive 22, 607039 (3)
RARA	Leukemia, acute promyelocytic, 612376 (1)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)

Genes at Clinical Genomics Database

CDH15, FUT6, HPS4, LPL, NAT1, OTOA, SYNE2,

CDH15	Mental retardation, autosomal dominant 3
FUT6	Fucosyltransferase 6 deficiency
HPS4	Hermansky-Pudlak syndrome 4
LPL	Lipoprotein lipase deficiency Combined hyperlipidemia, familial Hyperlipoproteinemia, type I
NAT1	Acetylation, NAT1-related
OTOA	Deafness, autosomal recessive 22
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 70
Number of Genes: 68

Export to: CSV

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ANAPC1
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	ee	2	rs72936240 dbSNP Clinvar	112614429	34.77	G	A	VQSRTrancheSNP99.00to99.90	0/1	7	STOP_GAINED	HIGH	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
ARMS2
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	ee	10	rs2736911 dbSNP Clinvar	124214355	1371.77	C	T	PASS	0/1	165	STOP_GAINED	HIGH	None	0.11442	0.11440	0.12546				None None	None None None None	ARMS2\|0.000659964\|97.48%
ARSD
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	ee	X	rs111939179 dbSNP Clinvar	2833605	49.77	C	T	PASS	0/1	43	STOP_GAINED	HIGH	None							None None	None None None None	ARSD\|0.001611053\|92.29%
C5orf20
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	ee	5	rs12520799 dbSNP Clinvar	134782450	1683.77	T	A	PASS	0/1	172	STOP_GAINED	HIGH	None	0.64517	0.64520	0.40151				None None	None None None None	DCANP1\|0.000625841\|97.73%,TIFAB\|0.012847206\|78.59%
CAPN8
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	ee	1	rs34606532 dbSNP Clinvar	223722780	3450.77	G	A	PASS	1/1	120	STOP_GAINED	HIGH	None	0.44349	0.44350	0.45642				None None	None None None None	CAPN8\|0.042652474\|64.89%
CASP12
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	ee	11	rs497116 dbSNP Clinvar	104763117	2787.77	G	A	PASS	1/1	96	STOP_GAINED	HIGH	None	0.94848	0.94850					None None	None None None None	CASP12\|0.001761043\|91.65%
CDH15
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	ee	16	rs2270416 dbSNP Clinvar	89261482	760.77	C	A	PASS	0/1	91	STOP_GAINED	HIGH	None	0.07508	0.07508	0.03649				None None	None None None None	CDH15\|0.019027782\|74.65%
CEP170
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	ee	1	rs2728433 dbSNP Clinvar	243328887	193.77	G	T	VQSRTrancheSNP99.90to100.00	0/1	217	STOP_GAINED	HIGH	None							None None	None None None None	CEP170\|0.244807399\|32.03%
CLDN5
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	ee	22	rs885985 dbSNP Clinvar	19511925	2048.77	G	A	PASS	0/1	190	STOP_GAINED	HIGH	None	0.49681	0.49680					None None	None None None None	CLDN5\|0.101200006\|50.93%
CLEC4F
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	ee	2	rs782143511 dbSNP Clinvar	71044162	786.77	C	T	PASS	0/1	83	STOP_GAINED	HIGH	None							None None	None None None None	CLEC4F\|0.002139086\|90.63%