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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A2ML1, AC005609.1, AC008686.1, AC012123.1, AC017104.2, AC096644.1, AGAP3, AGAP6, AL133373.1, AL136115.1, ALG9, ANKRD36, ANKRD36C, AOAH, AP001468.1, AQP12B, ARHGEF28, ASB10, ATG9B, ATP2B3, B3GNT3, B3GNT6, BCL11A, BCR, C11orf40, C14orf23, C17orf100, C21orf49, CARD8, CASP9, CCDC144NL, CCNK, CD200R1L, CDC27, CDCP2, CDK12, CELA1, CEP89, CHTF18, CLEC1A, CLECL1, CNN2, COL26A1, COL6A5, COPZ2, CRIPAK, CSHL1, CTB-78H18.1, CTBP2, CYP2D6, CYP2D7P, CYP2F1, DCAF7, DEFB126, DHDH, DNAH7, DUX4L7, EPDR1, EPPK1, FAM104B, FAM136A, FLG, FOXD1, FOXD4, FOXO6, FRG1B, FRG2C, GAB2, GAS2L1, GCN1L1, GDPD4, GLTSCR1, GNRH2, GOLGA6L2, GOLGA6L6, GPATCH4, GRIN3B, H6PD, HCG27, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HLA-DRB5, HRCT1, HRNR, HS3ST6, HSH2D, HYDIN, IFNL4, IGHJ6, IGHV3-48, IGHV6-1, IGLV3-16, IGLV5-45, IL32, IQSEC1, ITIH5, KIAA1522, KIAA1683, KIR2DL1, KIR2DL4, KMT2E, KRT24, KRTAP10-1, KRTAP19-6, KRTAP2-4, KRTAP29-1, KRTAP4-7, LCA10, LEPREL2, LINC00955, MADCAM1, MAML3, MAPK7, MDK, MESP1, MICA, MMP28, MPND, MS4A14, MTPAP, MUC16, MUC19, MUC20, MUC4, MUC6, NCAM1, NCR3LG1, NLRC3, NOP16, OBP2A, OR10J4, OR11G2, OR13C2, OR13C5, OR2D3, OR2T12, OR2T35, OR2T4, OR2T7, OR4C5, OR4L1, OR4Q2, OR51F1, OR51I2, OR52A1, OR5K3, OR5K4, OR8U1, P2RX5, PABPC3, PCDHA4, PDE4DIP, PGPEP1L, PKD1L2, PNLIPRP2, PNPLA7, POLR1B, PRDM15, PRIM2, PRKRA, PRR14, PRR25, PRSS3, PRSS48, PSORS1C1, RAI1, RBMX, RIBC2, RP11-131H24.4, RP11-166B2.1, RP11-17M16.1, RP11-297N6.4, RP11-368I7.4, RP11-383H13.1, RP11-758M4.1, RYK, SARM1, SBK3, SCARF2, SCRN3, SHANK1, SIGLEC12, SIRPA, SIRPB1, SKA3, SLAIN1, SLC25A5, SLC41A3, SLC9B1, SON, SPATA4, SPZ1, SRA1, SRL, SRRM3, SRSF8, TAS2R43, TAS2R50, TCEAL6, TCP11, TGIF1, TIGD6, TMEM80, TP53I11, TPM2, TPSD1, TRAJ37, TRBV10-1, TRBV11-1, TRBV3-1, TRBV5-4, TRBV6-5, TRBV7-3, TSHZ1, TTC24, TTLL6, TVP23C, UBBP4, VCX, WNK1, ZFPM1, ZFYVE19, ZNF141, ZNF233, ZNF443, ZNF480, ZNF516, ZNF626, ZNF681, ZNF717, ZNF852,

+ Genes associated with diseases 27

Genes at Omim

A2ML1, ALG9, ASB10, ATP2B3, BCL11A, BCR, CCNK, CLEC1A, CYP2D6, FLG, H6PD, HLA-A, HLA-B, HLA-DQA1, HLA-DRB1, HYDIN, MTPAP, PRKRA, RAI1, RBMX, SCARF2, SON, TGIF1, TPM2, TSHZ1, WNK1, ZNF141,

A2ML1	{Otitis media, susceptibility to}, 166760 (3)
ALG9	Congenital disorder of glycosylation, type Il, 608776 (3) Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CCNK	?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CLEC1A	{Aspergillosis, susceptibility to}, 614079 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
FLG	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3) Ichthyosis vulgaris, 146700 (3)
H6PD	Cortisone reductase deficiency 1, 604931 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (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-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
PRKRA	Dystonia 16, 612067 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SON	ZTTK syndrome, 617140 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TPM2	Arthrogryposis multiplex congenita, distal, type 1, 108120 (3) Arthrogryposis, distal, type 2B, 601680 (3) CAP myopathy 2, 609285 (3) Nemaline myopathy 4, autosomal dominant, 609285 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ALG9, ATP2B3, BCL11A, BCR, CYP2D6, FLG, H6PD, HLA-A, HLA-B, MTPAP, PRKRA, RAI1, RBMX, SCARF2, TGIF1, TPM2, TSHZ1, WNK1, ZNF141, ZNF480,

ALG9	Congenital disorder of glycosylation, type Il
ATP2B3	Spinocerebellar ataxia, X-linked 1
BCL11A	Severe speech sound disorder
BCR	CML treatment, response to
CYP2D6	Drug metabolism, CYP2CD6-related
FLG	Icthyosis vulgaris
H6PD	Cortisone reductase deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
MTPAP	Spastic ataxia 4, autosomal recessive
PRKRA	Dystonia 16
RAI1	Smith-Magenis syndrome
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
SCARF2	Van den Ende-Gupta syndrome
TGIF1	Holoprosencephaly 4
TPM2	Nemaline myopathy 4 CAP myopathy Arthrogryposis, distal, type 1A Arthrogryposis, distal, type 2B
TSHZ1	Aural atresia, congenital
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA
ZNF141	Postaxial polydactyly type A, autosomal recessive
ZNF480	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 392
Number of Genes: 233

Export to: CSV

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FRG2C
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_47.variant11	3	rs144577984 dbSNP Clinvar	75714805	5238.6	TG	T	PASS	0/1	724	FRAME_SHIFT	HIGH	None							None None	None None None None	FRG2C\|0.000891988\|96.07%
GAB2
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_47.variant11	11	.	77937662	693.45	T	TG...	PASS	0/1	79	FRAME_SHIFT	HIGH	None							None None	None None None None	GAB2\|0.188194855\|38.04%
GAS2L1
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_47.variant11	22	rs34777709,rs397759036,rs397706110 dbSNP Clinvar	29707639	1767.47	G	GC	PASS	1/1	74	FRAME_SHIFT	HIGH	None	1.00000	1.00000	0.00832				None None	None None None None	GAS2L1\|0.022794635\|72.8%
GCN1L1
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_47.variant11	12	.	120616707	1511.14	T	TGG	PASS	0/1	86	FRAME_SHIFT	HIGH	None							None None	None None None None	GCN1L1\|0.277880107\|29.28%
GDPD4
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_47.variant11	11	rs34784710,rs76229203 dbSNP Clinvar	76954788	1579.77	T	TA	PASS	0/1	91	FRAME_SHIFT	HIGH	None	0.25399	0.25400	0.27081				None None	None None None None	GDPD4\|0.003348907\|88.01%
GLTSCR1
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_47.variant11	19	.	48197559	33.06	CA...	C	DRAGENHardINDEL	0/1	16	FRAME_SHIFT	HIGH	None							None None	None None None None	GLTSCR1\|0.038511368\|66.29%
GNRH2
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_47.variant11	20	rs67749149 dbSNP Clinvar	3026345	1145.11	AG...	AG...	PASS	0/1	168	FRAME_SHIFT	HIGH	None			0.08836				None None	None None None None	GNRH2\|0.0055782\|85.13%
GOLGA6L2
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_47.variant11	15	rs763821476 dbSNP Clinvar	23685604	43.74	TC	T	PASS	0/1	85	FRAME_SHIFT	HIGH	None							None None	None None None None	GOLGA6L2\|0.000844228\|96.42%
	View	combined sample_47.variant11	15	rs375981990 dbSNP Clinvar	23685541	1389.5	CT	C	PASS	1/1	67	FRAME_SHIFT	HIGH	None	1.00000	1.00000					None None	None None None None	GOLGA6L2\|0.000844228\|96.42%
	View	combined sample_47.variant11	15	rs756870099 dbSNP Clinvar	23685606	34.71	TC...	T	PASS	0/1	92	FRAME_SHIFT	HIGH	None							None None	None None None None	GOLGA6L2\|0.000844228\|96.42%
GOLGA6L6
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_47.variant11	15	rs756710564 dbSNP Clinvar	20740293	232.73	TGA	T	PASS	1/1	5	FRAME_SHIFT	HIGH	None							None None	None None None None	GOLGA6L6\|0.001311756\|93.81%
	View	combined sample_47.variant11	15	rs751112872 dbSNP Clinvar	20740290	322.73	T	TCC	PASS	1/1	7	FRAME_SHIFT	HIGH	None							None None	None None None None	GOLGA6L6\|0.001311756\|93.81%
GPATCH4