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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ADAL, ADCY7, AE000662.92, ANKRD52, APEH, ARVCF, ATXN10, BTN3A2, C12orf55, C16orf96, C19orf80, C1orf167, C6orf52, CACNA1E, CAPN1, CASP1, CEP164, COG7, CTD-3193O13.9, CWH43, CYP2S1, CYP3A4, DARS2, DEK, DISP2, DLG4, DNAH5, DYRK1A, EHD4, EPHA2, FAM161B, FANCI, FCHO1, FGFR3, FHOD1, FRYL, FSIP2, GARNL3, GOLGA4, HEATR5B, HIP1R, HOXC12, HSF4, HUWE1, JAK2, JAKMIP2, KCNC3, KLF2, KMT2A, KRT27, KRTAP2-1, LAMB4, LIFR, LMBRD2, LMOD1, LRP1, LRRC10B, LRRC37A, LRRTM3, MARCH6, MCM7, METTL17, MINK1, MUC16, MUC3A, NBAS, NCOR1, NIPBL, NISCH, NLGN2, NR4A1, NUP153, OR13C8, OR4N2, OR7D4, OXCT1, PDE1C, PDZD2, PDZD8, PHC2, PHLDB1, PLB1, PLIN4, PRDM9, PRKD2, PRPF4B, PTPN18, PTPRJ, QRICH2, RASEF, RBM24, RETSAT, RICTOR, RINT1, RNF168, SH3TC2, SKP2, SLC9A5, SLCO2A1, SLIT2, SOX10, SPRYD3, SPTA1, SPTBN1, ST3GAL4, SUB1, SUN1, SYCP2L, SYT14, TACC2, TANC2, TBC1D20, TENM1, TFAP2A, TGFBR3L, TMEM194A, TRAF3, TRIP13, TRPC1, TRPM6, TUB, UBR2, UHRF1BP1L, USP20, VPS13D, WDR5, YPEL4, ZBTB47, ZBTB8B, ZFHX2, ZNF585A, ZSWIM8,

+ Genes associated with diseases 40

Genes at Omim

ATXN10, CACNA1E, CAPN1, CEP164, COG7, DARS2, DEK, DNAH5, DYRK1A, EPHA2, FANCI, FGFR3, FSIP2, HSF4, HUWE1, JAK2, KCNC3, KMT2A, LIFR, LRP1, NBAS, NIPBL, OXCT1, PDE1C, PTPRJ, QRICH2, RNF168, SH3TC2, SLCO2A1, SOX10, SPTA1, SYT14, TBC1D20, TFAP2A, TRAF3, TRIP13, TRPM6, TUB, VPS13D, ZFHX2,

ATXN10	Spinocerebellar ataxia 10, 603516 (3)
CACNA1E	Epileptic encephalopathy, early infantile, 69, 618285 (3)
CAPN1	Spastic paraplegia 76, autosomal recessive, 616907 (3)
CEP164	Nephronophthisis 15, 614845 (3)
COG7	Congenital disorder of glycosylation, type IIe, 608779 (3)
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DEK	Leukemia, acute nonlymphocytic (2)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DYRK1A	Mental retardation, autosomal dominant 7, 614104 (3)
EPHA2	Cataract 6, multiple types, 116600 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FGFR3	Bladder cancer, somatic, 109800 (3) CATSHL syndrome, 610474 (3) Cervical cancer, somatic, 603956 (3) Hypochondroplasia, 146000 (3) Achondroplasia, 100800 (3) Colorectal cancer, somatic, 114500 (3) Crouzon syndrome with acanthosis nigricans, 612247 (3) LADD syndrome, 149730 (3) Muenke syndrome, 602849 (3) Nevus, epidermal, somatic, 162900 (3) SADDAN, 616482 (3) Spermatocytic seminoma, somatic, 273300 (3) Thanatophoric dysplasia, type I, 187600 (3) Thanatophoric dysplasia, type II, 187601 (3)
FSIP2	Spermatogenic failure 34, 618153 (3)
HSF4	Cataract 5, multiple types, 116800 (3)
HUWE1	Mental retardation, X-linked syndromic, Turner type, 300706 (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)
KCNC3	Spinocerebellar ataxia 13, 605259 (3)
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage (2) Wiedemann-Steiner syndrome, 605130 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LRP1	?Keratosis pilaris atrophicans, 604093 (3)
NBAS	Infantile liver failure syndrome 2, 616483 (3) Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NIPBL	Cornelia de Lange syndrome 1, 122470 (3)
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PDE1C	?Deafness, autosomal dominant 74, 618140 (3)
PTPRJ	Colon cancer, somatic, 114500 (3)
QRICH2	Spermatogenic failure 35, 618341 (3)
RNF168	RIDDLE syndrome, 611943 (3)
SH3TC2	Charcot-Marie-Tooth disease, type 4C, 601596 (3) Mononeuropathy of the median nerve, mild, 613353 (3)
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SOX10	PCWH syndrome, 609136 (3) Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) Waardenburg syndrome, type 4C, 613266 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)
SYT14	?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TBC1D20	Warburg micro syndrome 4, 615663 (3)
TFAP2A	Branchiooculofacial syndrome, 113620 (3)
TRAF3	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP13	Mosaic variegated aneuploidy syndrome 3, 617598 (3)
TRPM6	Hypomagnesemia 1, intestinal, 602014 (3)
TUB	?Retinal dystrophy and obesity, 616188 (3)
VPS13D	Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
ZFHX2	?Marsili syndrome, 147430 (3)

Genes at Clinical Genomics Database

ATXN10, CAPN1, CEP164, COG7, CYP3A4, DARS2, DNAH5, DYRK1A, EPHA2, FANCI, FGFR3, HSF4, HUWE1, JAK2, KCNC3, KMT2A, LIFR, LRP1, NBAS, NIPBL, OXCT1, RNF168, SH3TC2, SLCO2A1, SOX10, SPTA1, SYT14, TBC1D20, TENM1, TFAP2A, TRAF3, TRPM6, TUB,

ATXN10	Spinocerebellar ataxia 10
CAPN1	Spastic paraplegia 76, autosomal recessive
CEP164	Nephronophthisis 15
COG7	Congenital disorder of glycosylation, type IIe
CYP3A4	Drug metabolism, CYP3A4-related
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DYRK1A	Mental retardation, autosomal dominant 7
EPHA2	Cataract 6, multiple types
FANCI	Fanconi anemia, complementation group I
FGFR3	Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Crouzon syndrome with acanthosis nigricans Lacrimoauriculodentodigital syndrome (AD) Muenke syndrome
HSF4	Cataract 5, multiple types
HUWE1	Mental retardation, X-linked syndromic, Turner type
JAK2	Thrombocythemia 3
KCNC3	Spinocerebellar ataxia 13
KMT2A	Wiedemann-Steiner syndrome
LIFR	Stuve-Wiedemann syndrome
LRP1	Schizophrenia
NBAS	Infantile liver failure syndrome 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NIPBL	Cornelia de Lange syndrome 1
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
RNF168	RIDDLE syndrome
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Primary hypertrophic osteoarthropathy
SOX10	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
SYT14	Spinocerebellar ataxia, autosomal recessive 11
TBC1D20	Warburg micro syndrome 4
TENM1	Microphthalmia, isolated, with coloboma 9
TFAP2A	Branchiooculofacial sydrome
TRAF3	Herpes simplex encephalitis, susceptibility to, 3
TRPM6	Hypomagnesemia 1, intestinal
TUB	Retinal dystrophy and obesity

Genes at HGMD

Summary

Number of Variants: 141
Number of Genes: 132

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UBR2
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	h8m mutect2	6	.	42658826	0.0	TAAA	T,...	.	0/1/2/3/4	0	FRAME_SHIFT	HIGH								None None	None None None None	UBR2\|0.353289156\|23.87%
COG7
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	h8m mutect2	16	.	23445969	0.0	TAAA	T,...	.	0/1/2/3/4	0	FRAME_SHIFT	HIGH								None None	None None None None	COG7\|0.033337163\|68.01%
METTL17
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	h8m mutect2	14	.	21462202	0.0	TAAA	T,...	.	0/1/2/3/4	0	FRAME_SHIFT	HIGH								None None	None None None None	METTL17\|0.078186557\|55.63%
ZFHX2
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	h8m mutect2	14	.	24004269	0.0	TAA	T,...	.	0/1/2/3/4	0	FRAME_SHIFT	HIGH								None None	None None None None	ZFHX2\|0.093317405\|52.53%
C19orf80
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	h8m mutect2	19	.	11350352	0.0	TAA	T,...	.	0/1/2/3	0	FRAME_SHIFT	HIGH								None None	None None None None	DOCK6\|0.04890117\|62.98%,C19orf80\|0.002577141\|89.53%
LRRC10B
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	h8m mutect2	11	.	61276549	0.0	TA	T,...	.	0/1/2/3	0	FRAME_SHIFT	HIGH								None None	None None None None	LRRC10B\|0.059919935\|59.88%
DYRK1A
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	h8m mutect2	21	.	38878437	0.0	TA	T,...	.	0/1/2	0	FRAME_SHIFT	HIGH								None None	None None None None	DYRK1A\|0.889451325\|3.69%
OR4N2
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	h8m mutect2	14	.	20295665	0.0	TA	T,TAA	.	0/1/2	0	FRAME_SHIFT	HIGH								None None	None None None None	OR4N2\|0.024591283\|71.98%
PHLDB1
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	h8m mutect2	11	.	118498550	0.0	TA	T,TAA	.	0/1/2	0	FRAME_SHIFT	HIGH								None None	None None None None	PHLDB1\|0.221111525\|34.29%
RASEF
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	h8m mutect2	9	.	85677591	0.0	TA	T,TAA	.	0/1/2	0	FRAME_SHIFT	HIGH								None None	None None None None	RASEF\|0.039321415\|66%