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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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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:
ADAMTS1, ADAMTS5, AIRE, ATP5O, B3GALT5, BACE2, BACH1, BRWD1, C21orf128, C21orf33, C21orf62, C2CD2, CBR1, CBR3, CBS, CLDN14, CLDN8, COL18A1, COL6A1, CRYAA, DIP2A, DOPEY2, DSCAM, ERG, ETS2, EVA1C, FAM3B, FTCD, GRIK1, IGSF5, ITGB2, ITSN1, JAM2, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-6, KRTAP10-8, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-4, KRTAP15-1, KRTAP19-4, KRTAP24-1, KRTAP25-1, KRTAP27-1, LSS, MCM3AP, MRPL39, MX1, NDUFV3, OLIG2, PCBP3, PCNT, PDXK, PIGP, POTED, PRDM15, PRMT2, PWP2, RIPK4, RRP1, RRP1B, S100B, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SON, SUMO3, SYNJ1, TCP10L, TMPRSS15, TMPRSS3, TPTE, TRAPPC10, TRPM2, UMODL1, URB1, USP25, WDR4, ZBTB21,

+ Genes associated with diseases 20

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, CRYAA, FTCD, ITGB2, KCNJ6, LSS, MCM3AP, PCNT, PIGP, RIPK4, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14	Deafness, autosomal recessive 29, 614035 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CRYAA	Cataract 9, multiple types, 604219 (3)
FTCD	Glutamate formiminotransferase deficiency, 229100 (3)
ITGB2	Leukocyte adhesion deficiency, 116920 (3)
KCNJ6	Keppen-Lubinsky syndrome, 614098 (3)
LSS	Cataract 44, 616509 (3) Hypotrichosis 14, 618275 (3)
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PIGP	?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4	CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
SIK1	Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON	ZTTK syndrome, 617140 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15	Enterokinase deficiency, 226200 (3)
TMPRSS3	Deafness, autosomal recessive 8/10, 601072 (3)
WDR4	Galloway-Mowat syndrome 6, 618347 (3) Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, CRYAA, FTCD, ITGB2, KCNJ6, LSS, PCNT, RIPK4, SIK1, TMPRSS15, TMPRSS3,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14	Deafness, autosomal recessive 29
COL18A1	Knobloch syndrome 1
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
CRYAA	Cataract 9, multiple types
FTCD	Glutamate formiminotransferase deficiency
ITGB2	Leukocyte adhesion deficiency, type I
KCNJ6	Keppen-Lubinsky syndrome
LSS	Cataract 44
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4	Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome
SIK1	Epileptic encephalopathy, early infantile 30
TMPRSS15	Enterokinase deficiency
TMPRSS3	Deafness, autosomal recessive 10 Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 415
Number of Genes: 90

Export to: CSV

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ADAMTS1
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	tsvc_variants_ionxpress_028	21	rs428785 dbSNP Clinvar	28216595	126.862	C	G	PASS	0/1	51	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.68910	0.68910	0.18987	0.25	0.00		None None	None None None None	ADAMTS1\|0.304173311\|27.34%
	View	tsvc_variants_ionxpress_028	21	rs434857 dbSNP Clinvar	28217178	160.547	T	G	PASS	0/1	53	SYNONYMOUS_CODING	LOW	SILENT	0.68890	0.68890	0.17773				None None	None None None None	ADAMTS1\|0.304173311\|27.34%
	View	tsvc_variants_ionxpress_028	21	rs445784 dbSNP Clinvar	28216692	139.208	G	T	PASS	0/1	56	SYNONYMOUS_CODING	LOW	SILENT	0.67812	0.67810	0.16880				None None	None None None None	ADAMTS1\|0.304173311\|27.34%
ADAMTS5
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	tsvc_variants_ionxpress_028	21	rs226794 dbSNP Clinvar	28302355	591.463	A	G	PASS	1/1	80	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.80970	0.80970	0.08527	1.00	0.00		None None	None None None None	ADAMTS5\|0.324991256\|25.8%
AIRE
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	tsvc_variants_ionxpress_028	21	rs1133779 dbSNP Clinvar	45717550	920.779	T	C	PASS	1/1	127	SYNONYMOUS_CODING	LOW	SILENT	0.53035	0.53040	0.49438				None None	None None None None	AIRE\|0.006628229\|83.92%
	View	tsvc_variants_ionxpress_028	21	rs878081 dbSNP Clinvar	45708277	569.87	C	T	PASS	1/1	78	SYNONYMOUS_CODING	LOW	SILENT	0.13319	0.13320	0.18679				None None	None None None None	AIRE\|0.006628229\|83.92%
ATP5O
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	tsvc_variants_ionxpress_028	21	rs9980730 dbSNP Clinvar	35275955	887.227	G	A	PASS	1/1	123	None	None	None	0.99101	0.99100	0.02237				None None	None None None None	ATP5O\|0.055947808\|60.93%
B3GALT5
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	tsvc_variants_ionxpress_028	21	rs734413 dbSNP Clinvar	41032804	786.107	G	A	PASS	1/1	105	SYNONYMOUS_CODING	LOW	SILENT	0.62939	0.62940	0.33746				None None	None None None None	B3GALT5\|0.004441095\|86.45%
	View	tsvc_variants_ionxpress_028	21	rs3746887 dbSNP Clinvar	41032740	768.862	T	C	PASS	1/1	103	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.65336	0.65340	0.31493	1.00	0.00		None None	None None None None	B3GALT5\|0.004441095\|86.45%
BACE2
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	tsvc_variants_ionxpress_028	21	rs1046210 dbSNP Clinvar	42622786	99.4057	C	T	PASS	0/1	62	SYNONYMOUS_CODING	LOW	SILENT	0.41893	0.41890	0.30132				None None	None None None None	BACE2\|0.031049204\|68.94%
BACH1
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	tsvc_variants_ionxpress_028	21	rs388707 dbSNP Clinvar	30714776	91.8884	T	C	PASS	0/1	52	SYNONYMOUS_CODING	LOW	SILENT	0.56590	0.56590	0.49285				None None	None None None None	BACH1\|0.113830282\|48.51%
BRWD1
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	tsvc_variants_ionxpress_028	21	rs2056844 dbSNP Clinvar	40670460	824.497	G	C	PASS	1/1	114	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.47844	0.47840	0.45725	0.28	0.00		None None	None None None None	BRWD1\|0.163713366\|41.06%
C21orf128
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	tsvc_variants_ionxpress_028	21	rs220111 dbSNP Clinvar	43523941	140.832	C	A	PASS	0/1	88	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.30631	0.30630	0.30740	0.03	0.02		None None	None None None None	UMODL1\|0.002901681\|88.83%,UMODL1-AS1\|0.000431351\|98.79%