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

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Genes:
ADARB1, AIRE, BRWD1, CBR3, CBS, COL18A1, COL6A1, COL6A2, CRYAA, DIP2A, DNMT3L, DSCAM, FTCD, IFNAR1, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LTN1, MCM3AP, MX1, NRIP1, PCNT, RIPK4, RRP1B, RUNX1, S100B, SLC19A1, TMPRSS15, TMPRSS3, TPTE, TRPM2,

+ Genes associated with diseases 19

Genes at Omim

AIRE, CBS, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, MCM3AP, NRIP1, PCNT, RIPK4, RUNX1, TMPRSS15, TMPRSS3,

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)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3) ?Myosclerosis, congenital, 255600 (3)
CRYAA	Cataract 9, multiple types, 604219 (3)
FTCD	Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2	{Hepatitis B virus, susceptibility to}, 610424 (3) ?Immunodeficiency 45, 616669 (3)
ITGB2	Leukocyte adhesion deficiency, 116920 (3)
KCNE1	Jervell and Lange-Nielsen syndrome 2, 612347 (3) Long QT syndrome 5, 613695 (3)
KCNJ6	Keppen-Lubinsky syndrome, 614098 (3)
LIPI	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1	?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
RIPK4	CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RUNX1	Leukemia, acute myeloid, 601626 (3) Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
TMPRSS15	Enterokinase deficiency, 226200 (3)
TMPRSS3	Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

AIRE, CBS, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, NRIP1, PCNT, RIPK4, RUNX1, TMPRSS15, TMPRSS3,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
COL18A1	Knobloch syndrome 1
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
COL6A2	Ullrich congenital muscular dystrophy 1 Myosclerosis, congenital Bethlem myopathy 1 Epilepsy, progressive myoclonic, autosomal recessive
CRYAA	Cataract 9, multiple types
FTCD	Glutamate formiminotransferase deficiency
IFNAR2	Immunodeficiency 45
IL10RB	Inflammatory bowel disease 25, early onset, autosomal recessive
ITGB2	Leukocyte adhesion deficiency, type I
KCNE1	Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2
KCNJ6	Keppen-Lubinsky syndrome
LIPI	Hypertriglyceridemia, familial
NRIP1	Schizophrenia
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4	Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome
RUNX1	Platelet disorder, familial, with associated myeloid malignancy
TMPRSS15	Enterokinase deficiency
TMPRSS3	Deafness, autosomal recessive 10 Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 130
Number of Genes: 34

Export to: CSV

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ADARB1
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	15a02301_s1 genome	21	rs1051367 dbSNP Clinvar	46641968	644.95	G	A	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.49401	0.49400	0.49692				None None	None None None None	ADARB1\|0.037848146\|66.51%
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	15a02301_s1 genome	21	rs1055311 dbSNP Clinvar	45709568	492.7	C	T	PASS	0/1	88	SYNONYMOUS_CODING	LOW	None	0.11761	0.11760	0.20209				None None	None None None None	AIRE\|0.006628229\|83.92%
	View	15a02301_s1 genome	21	rs1800520 dbSNP Clinvar	45709906	1231.29	C	G	PASS	0/1	98	NON_SYNONYMOUS_CODING	MODERATE	None	0.22824	0.22820	0.15638	1.00	0.00		None None	None None None None	AIRE\|0.006628229\|83.92%
	View	15a02301_s1 genome	21	rs1800521 dbSNP Clinvar	45712977	1820.32	T	C	PASS	0/1	168	SYNONYMOUS_CODING	LOW	None	0.35623	0.35620	0.39350				None None	None None None None	AIRE\|0.006628229\|83.92%
	View	15a02301_s1 genome	21	rs1133779 dbSNP Clinvar	45717550	1292.41	T	C	PASS	0/1	119	SYNONYMOUS_CODING	LOW	None	0.53035	0.53040	0.49438				None None	None None None None	AIRE\|0.006628229\|83.92%
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	15a02301_s1 genome	21	rs1041439 dbSNP Clinvar	40571246	3056.79	A	G	PASS	1/1	109	NON_SYNONYMOUS_CODING	MODERATE	None	0.85284	0.85280	0.05336	0.52	0.00		None None	None None None None	BRWD1\|0.163713366\|41.06%
	View	15a02301_s1 genome	21	rs2056844 dbSNP Clinvar	40670460	3281.68	G	C	PASS	1/1	121	NON_SYNONYMOUS_CODING	MODERATE	None	0.47844	0.47840	0.45725	0.28	0.76		None None	None None None None	BRWD1\|0.163713366\|41.06%
	View	15a02301_s1 genome	21	rs2836972 dbSNP Clinvar	40652142	1242.86	G	A	PASS	0/1	95	SYNONYMOUS_CODING	LOW	None	0.21506	0.21510	0.33308				None None	None None None None	BRWD1\|0.163713366\|41.06%
	View	15a02301_s1 genome	21	rs6517529 dbSNP Clinvar	40584598	2203.75	C	T	PASS	1/1	80	SYNONYMOUS_CODING	LOW	None	0.85164	0.85160	0.05362				None None	None None None None	BRWD1\|0.163713366\|41.06%
	View	15a02301_s1 genome	21	rs2183573 dbSNP Clinvar	40574305	3776.09	A	G	PASS	1/1	138	NON_SYNONYMOUS_CODING	MODERATE	None	0.61861	0.61860	0.40143	0.03	0.01		None None	None None None None	BRWD1\|0.163713366\|41.06%
CBR3
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	15a02301_s1 genome	21	rs881711 dbSNP Clinvar	37507745	1077.03	C	T	PASS	0/1	77	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.82029	0.82030	0.15339				None None	None None None None	CBR3\|0.052541759\|61.89%
	View	15a02301_s1 genome	21	rs1056892 dbSNP Clinvar	37518706	1681.3	G	A	PASS	0/1	105	NON_SYNONYMOUS_CODING	MODERATE	None	0.42712	0.42710	0.39874	0.07	0.35		None None	None None None None	CBR3\|0.052541759\|61.89%
CBS
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	15a02301_s1 genome	21	rs1801181 dbSNP Clinvar	44480616	2221.65	G	A	PASS	0/1	215	SYNONYMOUS_CODING	LOW	None	0.29553	0.29550	0.26269				None None	None None None None	CBS\|0.170288794\|40.28%
COL18A1
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	15a02301_s1 genome	21	rs28696990 dbSNP Clinvar	46924434	0.0	A	C	LowGQX	.	72	SYNONYMOUS_CODING	LOW	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924433	0.0	C	.	LowGQX	.	75	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924432	0.0	C	.	LowGQX	.	76	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924431	0.0	C	.	LowGQX	.	76	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924430	0.0	C	.	LowGQX	.	86	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	rs914230 dbSNP Clinvar	46875564	1254.27	T	C	PASS	0/1	122	SYNONYMOUS_CODING	LOW	None	0.98842	0.98840	0.03067				None None	None None None None	COL18A1\|0.045578537\|64.02%
	View	15a02301_s1 genome	21	.	46876060	4.88	A	C	LowGQX;LowQD;SB	0/1	10	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	COL18A1\|0.045578537\|64.02%
	View	15a02301_s1 genome	21	rs2236451 dbSNP Clinvar	46876083	33.59	A	G	SB	0/1	9	SYNONYMOUS_CODING	LOW	None	0.37560	0.37560	0.38293				None None	None None None None	COL18A1\|0.045578537\|64.02%
	View	15a02301_s1 genome	21	rs11702425 dbSNP Clinvar	46908355	1254.86	T	C	PASS	0/1	92	SYNONYMOUS_CODING	LOW	None	0.31989	0.31990	0.31287				None None	None None None None	COL18A1\|0.045578537\|64.02%
	View	15a02301_s1 genome	21	rs11544970 dbSNP Clinvar	46924383	1245.05	C	T	SB	0/1	163	SYNONYMOUS_CODING	LOW	None	0.02756	0.02756	0.01888				None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	rs11544971 dbSNP Clinvar	46924389	1158.85	C	T	SB	0/1	174	SYNONYMOUS_CODING	LOW	None	0.01118	0.01118	0.01375				None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	rs149296338,rs78227997 dbSNP Clinvar	46924425	12427.82	CG...	C	PASS	1/1	180	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924426	0.0	G	.	LowGQX	.	84	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924429	0.0	C	.	LowGQX	.	87	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924427	0.0	G	.	LowGQX	.	84	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46924428	0.0	C	.	LowGQX	.	86	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
	View	15a02301_s1 genome	21	.	46929428	5.93	A	C	LowGQX;LowQD;SB	0/1	64	SYNONYMOUS_CODING	LOW	None							None None	None None None None	COL18A1\|0.045578537\|64.02%,SLC19A1\|0.006805855\|83.69%
COL6A1
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	15a02301_s1 genome	21	rs1980982 dbSNP Clinvar	47410931	2989.01	T	C	PASS	1/1	115	SYNONYMOUS_CODING	LOW	None	0.54493	0.54490	0.37606				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	15a02301_s1 genome	21	rs1053315 dbSNP Clinvar	47423507	2198.57	G	A	PASS	0/1	186	SYNONYMOUS_CODING	LOW	None	0.26817	0.26820	0.33726				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	15a02301_s1 genome	21	rs1053320 dbSNP Clinvar	47423636	1435.94	C	T	PASS	0/1	121	SYNONYMOUS_CODING	LOW	None	0.26418	0.26420	0.32713				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	15a02301_s1 genome	21	rs1053312 dbSNP Clinvar	47423389	1127.46	G	A	PASS	0/1	117	NON_SYNONYMOUS_CODING	MODERATE	None	0.27017	0.27020	0.33961	0.11	0.02		None None	None None None None	COL6A1\|0.085741402\|53.99%
COL6A2
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	15a02301_s1 genome	21	rs13046639 dbSNP Clinvar	47545826	1638.96	C	T	PASS	0/1	149	SYNONYMOUS_CODING	LOW	None	0.39397	0.39400	0.41258				None None	None None None None	COL6A2\|0.07894144\|55.42%
	View	15a02301_s1 genome	21	rs13052956 dbSNP Clinvar	47545823	1797.31	G	A	PASS	0/1	149	SYNONYMOUS_CODING	LOW	None	0.39417	0.39420	0.41273				None None	None None None None	COL6A2\|0.07894144\|55.42%
	View	15a02301_s1 genome	21	rs1042917 dbSNP Clinvar	47545768	1470.9	G	A	PASS	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.39397	0.39400	0.41296	0.10	0.99		None None	None None None None	COL6A2\|0.07894144\|55.42%
	View	15a02301_s1 genome	21	.	47545369	29.05	A	C	LowGQX;LowQD;SB	0/1	38	None	None	None				0.30	0.00		None None	None None None None	COL6A2\|0.07894144\|55.42%
	View	15a02301_s1 genome	21	rs2839114 dbSNP Clinvar	47545913	1711.31	G	A	PASS	0/1	138	SYNONYMOUS_CODING	LOW	None	0.32209	0.32210	0.29156				None None	None None None None	COL6A2\|0.07894144\|55.42%
	View	15a02301_s1 genome	21	rs2839110 dbSNP Clinvar	47538960	1757.86	G	A	PASS	0/1	145	NON_SYNONYMOUS_CODING	MODERATE	None	0.70527	0.70530	0.27077	0.91	0.00		None None	None None None None	COL6A2\|0.07894144\|55.42%
CRYAA
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	15a02301_s1 genome	21	rs872331 dbSNP Clinvar	44589215	821.06	C	T	PASS	0/1	62	SYNONYMOUS_CODING	LOW	None	0.50000	0.50000	0.35630				None None	None None None None	CRYAA\|0.039898534\|65.8%
DIP2A
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	15a02301_s1 genome	21	rs17302700 dbSNP Clinvar	47969793	407.7	C	T	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.03974	0.03974	0.06107				None None	None None None None	DIP2A\|0.064095824\|58.86%
	View	15a02301_s1 genome	21	rs1107065 dbSNP Clinvar	47974582	1784.02	A	G	PASS	0/1	153	SYNONYMOUS_CODING	LOW	None	0.33167	0.33170	0.35504				None None	None None None None	DIP2A\|0.064095824\|58.86%
DNMT3L
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	15a02301_s1 genome	21	rs7354779 dbSNP Clinvar	45670770	1314.08	T	C	PASS	0/1	118	NON_SYNONYMOUS_CODING	MODERATE	None	0.16514	0.16510	0.25496	0.00	0.43		None None	None None None None	DNMT3L\|0.006860897\|83.61%
DSCAM
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	15a02301_s1 genome	21	rs2297270 dbSNP Clinvar	41725630	912.42	G	C	PASS	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None	0.14257	0.14260	0.10516	0.92	0.00		None None	None None None None	DSCAM\|0.620706258\|11.07%
	View	15a02301_s1 genome	21	rs34336407 dbSNP Clinvar	41684090	870.89	C	T	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.07987	0.07987	0.07020				None None	None None None None	DSCAM\|0.620706258\|11.07%
	View	15a02301_s1 genome	21	rs200764944 dbSNP Clinvar	41414590	397.85	T	C	LowGQ;LowGQX	0/1	17	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040	0.00150				None None	None None None None	DSCAM\|0.620706258\|11.07%
FTCD
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	15a02301_s1 genome	21	rs1047179 dbSNP Clinvar	47558473	1567.66	G	C	PASS	0/1	141	SYNONYMOUS_CODING	LOW	None	0.48103	0.48100	0.47133				None None	None None None None	FTCD\|0.026135815\|71.26%
IFNAR1
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	15a02301_s1 genome	21	rs2257167 dbSNP Clinvar	34715699	758.94	G	C	PASS	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.22883	0.22880	0.14301	0.17	0.37		None None	None None None None	IFNAR1\|0.002595288\|89.49%
IFNAR2
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	15a02301_s1 genome	21	rs1051393 dbSNP Clinvar	34614255	689.08	T	G	PASS	0/1	91	NON_SYNONYMOUS_CODING	MODERATE	None	0.39177	0.39180	0.27326	0.36	0.00		None None	None None None None	IFNAR2\|0.001133002\|94.77%
	View	15a02301_s1 genome	21	rs1131668 dbSNP Clinvar	34634878	480.21	G	A	PASS	0/1	40	None	None	None	0.43530	0.43530		0.14	0.19		None None	None None None None	IFNAR2\|0.001133002\|94.77%
IL10RB
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	15a02301_s1 genome	21	rs2834167 dbSNP Clinvar	34640788	1131.83	A	G	PASS	0/1	97	NON_SYNONYMOUS_CODING	MODERATE	None	0.33946	0.33950	0.21452	0.05	0.08		None None	None None None None	IL10RB\|0.007758593\|82.81%
ITGB2
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	15a02301_s1 genome	21	rs235330 dbSNP Clinvar	46314907	2802.36	T	A	PASS	1/1	119	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000	0.00015	0.03	0.01		None None	None None None None	ITGB2\|0.063174571\|59.06%
	View	15a02301_s1 genome	21	rs235326 dbSNP Clinvar	46311813	1064.57	A	G	PASS	0/1	98	SYNONYMOUS_CODING	LOW	None	0.76298	0.76300	0.24985				None None	None None None None	ITGB2\|0.063174571\|59.06%
	View	15a02301_s1 genome	21	rs2230528 dbSNP Clinvar	46320313	1698.26	C	T	PASS	0/1	150	SYNONYMOUS_CODING	LOW	None	0.22304	0.22300	0.21621				None None	None None None None	ITGB2\|0.063174571\|59.06%
	View	15a02301_s1 genome	21	rs35903905 dbSNP Clinvar	46330229	950.4	C	T	PASS	0/1	90	SYNONYMOUS_CODING	LOW	None	0.02017	0.02017	0.01123				None None	None None None None	ITGB2\|0.063174571\|59.06%
KCNE1
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	15a02301_s1 genome	21	rs1805127 dbSNP Clinvar	35821821	1465.32	T	C	PASS	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	None	0.67392	0.67390	0.33808	0.44	0.00		None None	None None None None	KCNE1\|0.029341968\|69.68%
KCNJ6
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	15a02301_s1 genome	21	rs2070995 dbSNP Clinvar	39086965	771.94	T	C	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.82328	0.82330	0.16199				None None	None None None None	KCNJ6\|0.413743485\|19.94%
	View	15a02301_s1 genome	21	rs702859 dbSNP Clinvar	38997701	4018.29	G	A	PASS	1/1	157	SYNONYMOUS_CODING	LOW	None	0.77396	0.77400	0.27456				None None	None None None None	KCNJ6\|0.413743485\|19.94%
LIPI
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	15a02301_s1 genome	21	rs2822432 dbSNP Clinvar	15516948	478.91	C	T	PASS	0/1	52	NON_SYNONYMOUS_CODING	MODERATE	None	0.31729	0.31730	0.40396	0.05	0.96		None None	None None None None	LIPI\|0.027450364\|70.67%
	View	15a02301_s1 genome	21	rs7278737 dbSNP Clinvar	15481365	1342.94	G	T	PASS	0/1	141	NON_SYNONYMOUS_CODING	MODERATE	None	0.51897	0.51900	0.49892	1.00	0.00		None None	None None None None	LIPI\|0.027450364\|70.67%
	View	15a02301_s1 genome	21	rs7283442 dbSNP Clinvar	15516976	1565.66	T	A	PASS	1/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		0.20	0.00		None None	None None None None	LIPI\|0.027450364\|70.67%
LTN1
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	15a02301_s1 genome	21	rs2254796 dbSNP Clinvar	30341891	454.19	A	G	PASS	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.71865	0.71870	0.35966	1.00	0.00		None None	None None None None	LTN1\|0.18396832\|38.5%
MCM3AP
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	15a02301_s1 genome	21	rs9975588 dbSNP Clinvar	47704896	1889.74	G	A	PASS	0/1	141	NON_SYNONYMOUS_CODING	MODERATE	None	0.24860	0.24860	0.33146	0.01	0.99		None None	None None None None	MCM3AP\|0.023766899\|72.31%
	View	15a02301_s1 genome	21	rs11702450 dbSNP Clinvar	47703649	1766.79	G	A	PASS	0/1	152	SYNONYMOUS_CODING	LOW	None	0.27057	0.27060	0.33292				None None	None None None None	MCM3AP\|0.023766899\|72.31%
MX1
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	15a02301_s1 genome	21	rs469304 dbSNP Clinvar	42824733	1466.4	G	A	PASS	0/1	157	SYNONYMOUS_CODING	LOW	None	0.26697	0.26700	0.43549				None None	None None None None	MX1\|0.014596703\|77.43%
	View	15a02301_s1 genome	21	rs467960 dbSNP Clinvar	42812891	1505.3	C	T	PASS	0/1	127	SYNONYMOUS_CODING	LOW	None	0.35483	0.35480	0.49908				None None	None None None None	MX1\|0.014596703\|77.43%
	View	15a02301_s1 genome	21	rs469390 dbSNP Clinvar	42817930	532.24	G	A	PASS	0/1	52	NON_SYNONYMOUS_CODING	MODERATE	None	0.46186	0.46190	0.45863	1.00	0.00		None None	None None None None	MX1\|0.014596703\|77.43%
	View	15a02301_s1 genome	21	rs2070229 dbSNP Clinvar	42821113	970.35	T	C	PASS	0/1	109	SYNONYMOUS_CODING	LOW	None	0.33766	0.33770	0.37198				None None	None None None None	MX1\|0.014596703\|77.43%
NRIP1
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	15a02301_s1 genome	21	rs2229741 dbSNP Clinvar	16340289	2459.87	C	T	PASS	0/1	180	SYNONYMOUS_CODING	LOW	None	0.59944	0.59940	0.47993				None None	None None None None	NRIP1\|0.321174489\|26.06%
PCNT
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	15a02301_s1 genome	21	rs8131546 dbSNP Clinvar	47783796	263.3	T	C	PASS	0/1	20	SYNONYMOUS_CODING	LOW	None	0.84705	0.84700	0.10513				None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2839223 dbSNP Clinvar	47777063	1789.23	G	A	PASS	0/1	151	NON_SYNONYMOUS_CODING	MODERATE	None	0.84864	0.84860	0.10618		0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs9983522 dbSNP Clinvar	47851796	3161.86	G	A	PASS	0/1	263	SYNONYMOUS_CODING	LOW	None	0.14657	0.14660	0.10249				None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs35147998 dbSNP Clinvar	47852085	576.64	G	A	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.03854	0.03854	0.06051		0.81		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2070426 dbSNP Clinvar	47850484	2284.04	G	C	PASS	1/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.48822	0.48820	0.48408		0.78		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2073376 dbSNP Clinvar	47851753	7207.94	A	G	PASS	1/1	259	NON_SYNONYMOUS_CODING	MODERATE	None	0.66993	0.66990	0.30817		0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs17371795 dbSNP Clinvar	47855876	1282.26	A	G	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.14697	0.14700	0.10272				None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs6518291 dbSNP Clinvar	47821588	825.1	A	G	PASS	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.33467	0.33470	0.31362		0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs6518289 dbSNP Clinvar	47787002	1385.8	T	C	PASS	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	None	0.83766	0.83770	0.11695		0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs7279204 dbSNP Clinvar	47808679	1879.49	C	T	PASS	0/1	175	NON_SYNONYMOUS_CODING	MODERATE	None	0.15216	0.15220	0.10749		0.88		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs3737438 dbSNP Clinvar	47811272	685.92	C	T	PASS	0/1	51	SYNONYMOUS_CODING	LOW	None	0.30152	0.30150	0.28794				None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs367977723 dbSNP Clinvar	47841996	1265.13	G	A	PASS	0/1	120	SYNONYMOUS_CODING	LOW	None							None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs59183158 dbSNP Clinvar	47754449	212.54	G	A	LowQD	0/1	222	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs58106867 dbSNP Clinvar	47754471	50.58	G	A	LowQD;SB	0/1	255	NON_SYNONYMOUS_CODING	MODERATE	None					0.07		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs559031201 dbSNP Clinvar	47754634	84.6	C	G	LowQD;SB	0/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020			0.00		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2249057 dbSNP Clinvar	47773103	1110.72	C	A	PASS	0/1	97	SYNONYMOUS_CODING	LOW	None	0.28954	0.28950	0.29825				None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2249060 dbSNP Clinvar	47773177	949.76	C	T	PASS	0/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	0.15935	0.15930	0.11764		0.20		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs4818842 dbSNP Clinvar	47858248	439.84	A	G	PASS	0/1	31	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.02276	0.02276	0.01722		0.48		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2839227 dbSNP Clinvar	47786524	530.15	A	G	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.31669	0.31670	0.25972		0.64		None None	None None None None	PCNT\|0.010255201\|80.67%
	View	15a02301_s1 genome	21	rs2839228 dbSNP Clinvar	47786817	2407.69	C	G	PASS	0/1	186	SYNONYMOUS_CODING	LOW	None	0.83886	0.83890	0.11825				None None	None None None None	PCNT\|0.010255201\|80.67%
RIPK4
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	15a02301_s1 genome	21	rs35537517 dbSNP Clinvar	43161252	2713.31	G	A	PASS	0/1	297	NON_SYNONYMOUS_CODING	MODERATE	None	0.00280	0.00280	0.00700	0.74	1.00		None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs7276592 dbSNP Clinvar	43161022	1617.38	C	T	PASS	0/1	146	SYNONYMOUS_CODING	LOW	None	0.44549	0.44550	0.38711				None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs147023104 dbSNP Clinvar	43187085	1162.39	C	T	PASS	0/1	102	SYNONYMOUS_CODING	LOW	None	0.00739	0.00739	0.01454				None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs3746891 dbSNP Clinvar	43161357	7022.36	T	C	PASS	1/1	224	NON_SYNONYMOUS_CODING	MODERATE	None	0.95687	0.95690	0.01984	0.40	0.00		None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs3746894 dbSNP Clinvar	43162150	1856.54	G	A	PASS	0/1	156	SYNONYMOUS_CODING	LOW	None	0.44010	0.44010	0.39549				None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs3746893 dbSNP Clinvar	43161877	1287.67	C	T	PASS	0/1	142	SYNONYMOUS_CODING	LOW	None	0.44010	0.44010	0.39882				None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs2838113 dbSNP Clinvar	43161805	1837.56	G	A	PASS	0/1	167	SYNONYMOUS_CODING	LOW	None	0.53095	0.53100	0.48562				None None	None None None None	RIPK4\|0.144673643\|43.77%
	View	15a02301_s1 genome	21	rs2277789 dbSNP Clinvar	43164232	1558.78	C	A	PASS	0/1	142	SYNONYMOUS_CODING	LOW	None	0.38419	0.38420	0.36291				None None	None None None None	RIPK4\|0.144673643\|43.77%
RRP1B
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	15a02301_s1 genome	21	rs7279959 dbSNP Clinvar	45107518	3837.83	A	G	PASS	1/1	126	SYNONYMOUS_CODING	LOW	None	0.96845	0.96850	0.00039				None None	None None None None	RRP1B\|0.00474795\|86.16%
RUNX1
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	15a02301_s1 genome	21	.	36164610	6.14	T	G	LowGQX;LowQD;SB	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.14		None None	None None None None	RUNX1\|0.998765461\|0.45%