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

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Genes:
ACO1, ADAMTS13, ADAMTSL1, ADAMTSL2, AK8, ALDH1B1, ANKRD18A, ANKRD18B, AQP3, AQP7, ARID3C, B4GALT1, BAG1, C9orf131, C9orf24, C9orf50, C9orf66, C9orf72, CA9, CAAP1, CBWD1, CCBL1, CCDC107, CCDC171, CCIN, CDC37L1, CER1, CLTA, CNTFR, CNTLN, CNTNAP3, COL5A1, DBH, DCAF12, DMRT1, DMRT2, DMRT3, DNAJA1, DOCK8, EQTN, ERMP1, EXOSC3, FAM154A, FAM205A, FAM214B, FBP1, FBXO10, FOCAD, FOXD4, FREM1, FRMPD1, GARNL3, GLDC, GLIS3, GNE, GOLGA2, GRHPR, HAUS6, HRCT1, HSD17B3, IFNA10, IFNA17, IFNA4, IFNA5, IFNB1, IFNE, IFNK, IFT74, IGFBPL1, IL33, INSL4, IZUMO3, JAK2, KANK1, KCNV2, KDM4C, KIAA0020, KIAA1161, KIAA1432, KIAA2026, KIF24, LCN2, LURAP1L, MAPKAP1, MEGF9, MELK, MSMP, MTAP, NFX1, NTMT1, ODF2, OR13C8, OR1L8, OR2S2, PAX5, PDCD1LG2, PKN3, POLR1E, PRSS3, PTPRD, RANBP6, RECK, RGP1, RLN1, RP11-145E5.5, RPL7A, RUSC2, SHB, SIGMAR1, SLC1A1, SLC24A2, SLC25A51, SMARCA2, SPATA31A1, SURF1, SURF6, SVEP1, TAF1L, TEK, TESK1, TLN1, TMEM261, TPD52L3, TRBV20OR9-2, TTC39B, TTLL11, TUSC1, UBAP2, UNC13B, VCP, VLDLR, WDR5, ZBTB34, ZBTB5, ZDHHC12, ZER1,

+ Genes associated with diseases 31

Genes at Omim

ADAMTS13, ADAMTSL2, AQP3, AQP7, B4GALT1, C9orf72, COL5A1, DBH, DOCK8, EXOSC3, FBP1, FREM1, GLDC, GLIS3, GNE, GRHPR, HSD17B3, IFT74, JAK2, KANK1, KCNV2, MTAP, PAX5, RUSC2, SIGMAR1, SLC1A1, SMARCA2, SURF1, TEK, VCP, VLDLR,

ADAMTS13	Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2	Geleophysic dysplasia 1, 231050 (3)
AQP3	[Blood group GIL], 607457 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
B4GALT1	Congenital disorder of glycosylation, type IId, 607091 (3)
C9orf72	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
DBH	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
EXOSC3	Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1	Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FREM1	Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3)
GLDC	Glycine encephalopathy, 605899 (3)
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GNE	Nonaka myopathy, 605820 (3) Sialuria, 269921 (3)
GRHPR	Hyperoxaluria, primary, type II, 260000 (3)
HSD17B3	Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
IFT74	?Bardet-Biedl syndrome 20, 617119 (3)
JAK2	Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNV2	Retinal cone dystrophy 3B, 610356 (3)
MTAP	Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
PAX5	{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
RUSC2	Mental retardation, autosomal recessive 61, 617773 (3)
SIGMAR1	?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
SLC1A1	Dicarboxylic aminoaciduria, 222730 (3) {?Schizophrenia susceptibility 18}, 615232 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
SURF1	Charcot-Marie-Tooth disease, type 4K, 616684 (3) Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) Charcot-Marie-Tooth disease, type 2Y, 616687 (3) Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)

Genes at Clinical Genomics Database

ADAMTS13, ADAMTSL2, AQP3, B4GALT1, COL5A1, DBH, DOCK8, EXOSC3, FBP1, FREM1, GLDC, GLIS3, GNE, GRHPR, HSD17B3, JAK2, KANK1, KCNV2, MTAP, PAX5, SIGMAR1, SLC1A1, SMARCA2, SURF1, TEK, VCP, VLDLR,

ADAMTS13	Thrombotic thrombocytopenic purpura, familial Schulman-Upshaw syndrome
ADAMTSL2	Geleophysic dysplasia 1
AQP3	Blood group, GIL
B4GALT1	Congenital disorder of glycosylation, type IId
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
DBH	Dopamine beta-hydroxylase deficiency
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
EXOSC3	Pontocerebellar hypoplasia type 1B
FBP1	Fructose-1,6-bisphosphatase deficiency
FREM1	Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive
GLDC	Glycine encephalopathy
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism
GNE	Sialuria, French type Nonaka myopathy Inclusion body myopathy, autosomal recessive
GRHPR	Hyperoxaluria, primary, type II
HSD17B3	17-Beta hydroxysteroid dehydrogenase III deficiency
JAK2	Thrombocythemia 3
KANK1	Cerebral palsy, spastic quadriplegic, 2
KCNV2	Retinal cone dystrophy 3B
MTAP	Diaphyseal medullary stenosis with malignant fibrous histiocytoma
PAX5	Pre-B cell acute lymphoblastic leukemia
SIGMAR1	Amyotrophic lateral sclerosis 16, juvenile Frontotemporal lobar degeneration-motor neuron disease Spinal muscular atrophy, distal, autosomal recessive, 2
SLC1A1	Dicarboxylic aminoaciduria
SMARCA2	Nicolaides-Baraitser syndrome
SURF1	Charcot-Marie-Tooth disease type 4K Leigh syndrome
TEK	Venous malformations, multiple cutaneous and mucosal
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Charcot-Marie-Tooth disease type, axonal type, 2Y Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
VLDLR	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Genes at HGMD

Summary

Number of Variants: 3731
Number of Genes: 136

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ACO1
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	wes08-paw final	9	.	32424661	49.77	C	A	PASS	0/1	16	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW								None None	None None None None	ACO1\|0.412115925\|20.03%
ADAMTS13
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	wes08-paw final	9	rs867621989 dbSNP Clinvar	136302874	417.77	G	A	PASS	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.34	0.01		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
	View	wes08-paw final	9	.	136291358	1086.77	C	T	PASS	1/1	39	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ADAMTS13\|0.009367264\|81.4%
ADAMTSL1
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	wes08-paw final	9	.	18776842	851.77	A	C	PASS	1/1	24	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.64		None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	wes08-paw final	9	.	18887910	741.77	G	C	PASS	0/1	53	SYNONYMOUS_CODING	LOW								None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	wes08-paw final	9	.	18826263	261.73	GT	G	PASS	0/1	24	None	None	None							None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
	View	wes08-paw final	9	.	18889585	382.77	G	A	PASS	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE							None None	None None None None	ADAMTSL1\|0.674544897\|9.24%
ADAMTSL2
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	wes08-paw final	9	rs748947724 dbSNP Clinvar	136406032	120.77	C	T	PASS	0/1	9	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
	View	wes08-paw final	9	.	136406095	118.81	A	G	PASS	0/1	6	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ADAMTSL2\|0.0506365\|62.46%
AK8
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	wes08-paw final	9	.	135702420	756.73	A	AC	PASS	1/1	25	FRAME_SHIFT	HIGH								None None	None None None None	AK8\|0.035216111\|67.44%
ALDH1B1
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	wes08-paw final	9	.	38396068	2227.77	G	T	PASS	1/1	66	SYNONYMOUS_CODING	LOW								None None	None None None None	ALDH1B1\|0.096225216\|51.9%
	View	wes08-paw final	9	.	38396505	1709.77	G	A	PASS	1/1	55	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.07	0.01		None None	None None None None	ALDH1B1\|0.096225216\|51.9%
	View	wes08-paw final	9	.	38395943	1884.77	T	C	PASS	1/1	53	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ALDH1B1\|0.096225216\|51.9%
ANKRD18A
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	wes08-paw final	9	.	38595889	3133.77	T	C	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	0.43		None None	None None None None	ANKRD18A\|0.001240448\|94.24%
	View	wes08-paw final	9	.	38615701	561.77	C	T	PASS	0/1	43	SYNONYMOUS_CODING	LOW								None None	None None None None	ANKRD18A\|0.001240448\|94.24%
	View	wes08-paw final	9	.	38588605	268.77	T	C	PASS	1/1	12	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	0.00		None None	None None None None	ANKRD18A\|0.001240448\|94.24%
ANKRD18B
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