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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC007956.1, AC018755.1, ANKDD1B, ANKRD36C, ARSD, C17orf107, C17orf77, C18orf56, C19orf10, C5orf38, C8orf49, CAPN8, CASP12, CCHCR1, CDC27, CDRT15, CEP170, CLDN5, CLEC7A, CNTN5, CPN2, CSAG1, DNAH11, DUX4, DUX4L2, EML3, FAM104B, FAM187B, FCRL6, FMO6P, FUT2, GAB4, GJE1, GOLGA6L6, GOLGA8S, GXYLT1, HAPLN3, HLA-B, HLA-DPB1, HLA-DRB1, HLA-DRB5, IDI2, IGKV3D-15, IGLV5-48, IGSF3, KMT2C, KRTAP10-6, KRTAP4-8, KRTAP5-1, LINC00955, MAGEB16, MAP2K3, MOB3C, MS4A12, MTCH2, MUC12, MUC3A, MUC6, NACA2, NBPF14, NBPF16, NBPF9, NCOR1, NOTCH2NL, NPDC1, NPIPB15, OR10V1, OR10X1, OR2J1, OR2L8, OR4C3, OR4C5, OR4D10, OR4P4, OR4X1, OR52N4, OR5AR1, P4HA3, PDE4DIP, PKD1L2, POMT1, PRAMEF1, PRIM2, RP11-1407O15.2, RP11-625H11.1, RP11-861L17.3, RP11-867G23.8, SLC22A10, SLC22A24, SLC25A5, SLC35G6, SLC6A18, SLC9B1, SLC9B1P1, SLFN13, SPATA8, SUSD1, TAS2R19, TAS2R31, TAS2R46, TEKT4, TPTE, TRBV10-1, TRBV3-1, TRGV11, UBE2NL, USP17L10, USP29, VWDE, ZNF117, ZNF678, ZNF717, ZNF80, ZNF804B,

+ Genes associated with diseases 10

Genes at Omim

CASP12, CLEC7A, DNAH11, FUT2, HLA-B, HLA-DPB1, HLA-DRB1, IGSF3, KMT2C, POMT1,

CASP12	{Sepsis, susceptibility to} (3)
CLEC7A	Candidiasis, familial, 4, autosomal recessive, 613108 (3) {Aspergillosis, susceptibility to}, 614079 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)

Genes at Clinical Genomics Database

CLEC7A, DNAH11, DUX4, HLA-B, IGSF3, POMT1,

CLEC7A	Candidiasis, familial, 4
DNAH11	Ciliary dyskinesia, primary, 7
DUX4	Facioscapulohumeral muscular dystrophy, type 2
HLA-B	Drug-induced toxicity, susceptibility to
IGSF3	Lacrimal duct defect
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1

Genes at HGMD

Summary

Number of Variants: 132
Number of Genes: 114

Export to: CSV

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AC007956.1
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	combined sample_70.variant31	14	rs2270424 dbSNP Clinvar	75159007	821.8	G	A	PASS	0/1	68	STOP_GAINED	HIGH	None	0.24461	0.24460					None None	None None None None	AREL1\|0.445762843\|18.38%
AC018755.1
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	combined sample_70.variant31	19	rs3794983 dbSNP Clinvar	52096053	2217.52	T	A	PASS	0/1	123	STOP_GAINED	HIGH	None	0.20727	0.20730					None None	None None None None	None
ANKDD1B
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_70.variant31	5	rs34358 dbSNP Clinvar	74965122	1272.26	G	A	PASS	1/1	113	STOP_GAINED	HIGH	None	0.50699	0.50700					None None	None None None None	ANKDD1B\|0.036539802\|66.95%
ANKRD36C
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_70.variant31	2	rs76474100 dbSNP Clinvar	96617111	2445.24	G	A	PASS	0/1	209	STOP_GAINED	HIGH	None	0.00040	0.00040					None None	None None None None	ANKRD36C\|0.001406745\|93.3%
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	combined sample_70.variant31	X	rs111939179 dbSNP Clinvar	2833605	328.6	C	T	PASS	0/1	84	STOP_GAINED	HIGH	None							None None	None None None None	ARSD\|0.001611053\|92.29%
C17orf107
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_70.variant31	17	rs35400274 dbSNP Clinvar	4803711	3354.48	G	A	PASS	0/1	289	STOP_GAINED	HIGH	None	0.22165	0.22160	0.20543				None None	None None None None	CHRNE\|0.06756335\|57.98%,C17orf107\|0.01484237\|77.26%
C17orf77
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_70.variant31	17	rs545652 dbSNP Clinvar	72588806	424.41	C	A	PASS	0/1	80	STOP_GAINED	HIGH	None	0.22364	0.22360	0.26557				None None	None None None None	C17orf77\|0.000167879\|99.83%
C18orf56
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_70.variant31	18	rs28602966 dbSNP Clinvar	658170	4218.59	G	T	PASS	0/1	505	STOP_GAINED	HIGH	None	0.01817	0.01817	0.02545				None None	None None None None	TYMSOS\|0.00080118\|96.64%,TYMS\|0.850689466\|4.62%
C19orf10
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_70.variant31	19	rs72620522 dbSNP Clinvar	4659924	1052.31	C	T	PASS	0/1	142	STOP_GAINED	HIGH	None	0.08127	0.08127	0.08704				None None	None None None None	MYDGF\|0.015950442\|76.5%
C5orf38
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_70.variant31	5	rs62333235 dbSNP Clinvar	2755485	2921.62	C	T	PASS	0/1	324	STOP_GAINED	HIGH	None	0.29673	0.29670					None None	None None None None	C5orf38\|0.009040618\|81.62%