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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC005609.1, AC010536.1, AC012123.1, AC017104.2, AC073343.1, AC096644.1, AGAP3, AGER, AL133373.1, ALG9, ALPK2, AOAH, AP001468.1, AP003062.1, AQP12B, ASB10, ATG9B, ATXN3, B3GNT6, C10orf113, C14orf23, C17orf100, C21orf49, CAPN11, CCDC129, CCHCR1, CD177, CD1A, CDCP2, CELA1, CENPBD1, CHGB, CHIA, CHRFAM7A, CLDN16, CLECL1, CNTNAP3B, COL26A1, COL6A5, COPZ2, CRIPAK, CSRP2, CTAGE15, DCAF7, DEFB126, DHRS4L2, DNAH14, EPDR1, FAM186A, FAM231B, FBXL21, FCN3, FOXD1, FSIP2, GAS2L1, GJB4, GLT6D1, GOLGA6L2, GOLGA6L6, GPATCH4, GPRIN1, GRIN3B, HCG27, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, HLA-DRB5, HSH2D, IGHJ6, IGLJ2, IGLV3-16, IGLV3-22, IGLV4-60, IL32, IQSEC1, ITIH5, KCNMB3, KIR2DS4, KRT18, KRT24, KRTAP10-1, KRTAP19-6, KRTAP29-1, LCA10, LEPREL2, LINC00955, MAML3, MDK, MDP1, MESP1, MICA, MMP28, MROH6, MS4A14, MUC19, MUC20, MUC4, MUC5AC, NCAM1, NLRC3, NOP16, OR10AC1P, OR10AD1, OR10J4, OR11G2, OR1B1, OR2B11, OR2D3, OR2T35, OR2T4, OR2T7, OR4L1, OR51F1, OR51I2, OR52B4, OR52N1, OR5G3, OR5K4, OR6C1, OR9K2, P2RX5, PABPC3, PABPN1L, PCDHB8, PDE4DIP, PKD1L2, PLIN1, PLIN4, PNLIPRP2, PRAMEF12, PRDM15, PRR21, PSORS1C1, PTCHD3, RIBC2, RP11-131H24.4, RP11-156E8.1, RP11-166B2.1, RP11-17M16.1, RP11-181C3.1, RP11-231C14.4, RP11-368I7.4, RP11-383H13.1, RP11-758M4.1, RYK, SAMD1, SARM1, SBK3, SCARF2, SCRN3, SIGLEC12, SIRPA, SIRPB1, SKA3, SLAIN1, SON, SRL, SRRM3, SRSF8, TAS2R8, TBP, TCEAL6, TCEB3CL, TGIF1, TMEM25, TNFRSF12A, TP53I11, TPSD1, TRAJ37, TRAV19, TUBB8P7, UBXN11, VCX3A, WNK1, ZAN, ZFPM1, ZFYVE19, ZNF516, ZNF527, ZNF852, hsa-mir-150,

+ Genes associated with diseases 19

Genes at Omim

ALG9, ASB10, ATXN3, CLDN16, FCN3, FSIP2, GJB4, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRB1, KRT18, PLIN1, SCARF2, SON, TBP, TGIF1, WNK1,

ALG9	Congenital disorder of glycosylation, type Il, 608776 (3) Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
CLDN16	Hypomagnesemia 3, renal, 248250 (3)
FCN3	Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
FSIP2	Spermatogenic failure 34, 618153 (3)
GJB4	Erythrokeratodermia variabilis et progressiva 2, 617524 (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-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
KRT18	{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) Cirrhosis, cryptogenic, 215600 (3)
PLIN1	Lipodystrophy, familial partial, type 4, 613877 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SON	ZTTK syndrome, 617140 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ALG9, ATXN3, CLDN16, FCN3, GJB4, HLA-A, HLA-B, PLIN1, SCARF2, TBP, TGIF1, WNK1,

ALG9	Congenital disorder of glycosylation, type Il
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
CLDN16	Hypomagnesemia 3, renal
FCN3	Immunodeficiency due to Ficolin 3 deficiency
GJB4	Erythrokeratodermia variabilis et progressiva Erythrokeratodermia variabilis with erythema gyratum repens
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
PLIN1	Lipodystrophy, familial partial, type 4
SCARF2	Van den Ende-Gupta syndrome
TBP	Spinocerebellar ataxia 17
TGIF1	Holoprosencephaly 4
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 263
Number of Genes: 183

Export to: CSV

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AC005609.1
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	fakhrieh_salemi gatk indel	5	rs11321479 dbSNP Clinvar	140242451	1649.73	GC	G	PASS	1/1	45	FRAME_SHIFT	HIGH	None	0.63079	0.63080					None None	None None None None	PCDHA1\|0.053770874\|61.55%,PCDHA2\|0.022057729\|73.14%,PCDHA3\|0.065561586\|58.47%,PCDHA4\|0.052208094\|62.01%,PCDHA5\|0.043866789\|64.55%,PCDHA6\|0.050872533\|62.4%,PCDHA7\|0.028518768\|70.18%,PCDHA8\|0.015875262\|76.54%,PCDHA9\|0.018630148\|74.91%,PCDHA10\|0.087661567\|53.69%
AC010536.1
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	fakhrieh_salemi gatk indel	16	rs34111279 dbSNP Clinvar	87729334	1323.73	C	CA	PASS	0/1	77	FRAME_SHIFT	HIGH	None							None None	None None None None	JPH3\|0.231218042\|33.27%
AC012123.1
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	fakhrieh_salemi gatk indel	18	rs200605696 dbSNP Clinvar	30352057	505.73	GC...	G	PASS	0/1	43	FRAME_SHIFT	HIGH	None							None None	None None None None	KLHL14\|0.473561671\|17.04%
	View	fakhrieh_salemi gatk indel	18	rs763090416 dbSNP Clinvar	30352047	1134.73	TC...	T	PASS	0/1	52	FRAME_SHIFT	HIGH	None							None None	None None None None	KLHL14\|0.473561671\|17.04%
AC017104.2
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	fakhrieh_salemi gatk indel	2	rs11295750,rs796987985 dbSNP Clinvar	232317402	337.73	CA	C	PASS	0/1	25	FRAME_SHIFT	HIGH	None	0.23582	0.23580					None None	None None None None	None
AC073343.1
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	fakhrieh_salemi gatk indel	7	rs58381208 dbSNP Clinvar	6713940	989.73	CAG	C	PASS	0/1	48	FRAME_SHIFT	HIGH	None							None None	None None None None	None
AC096644.1
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	fakhrieh_salemi gatk indel	1	rs10553491,rs67066512 dbSNP Clinvar	220603310	363.73	TGTGA	T	PASS	1/1	12	FRAME_SHIFT	HIGH	None							None None	None None None None	None
AGAP3
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	fakhrieh_salemi gatk indel	7	rs552859803 dbSNP Clinvar	150783908	649.73	C	CG	PASS	1/1	8	FRAME_SHIFT	HIGH	None	0.99880	0.99880					None None	None None None None	AGAP3\|0.094196358\|52.32%
	View	fakhrieh_salemi gatk indel	7	rs539642617 dbSNP Clinvar	150783900	649.73	C	CG	PASS	1/1	5	FRAME_SHIFT	HIGH	None	0.99880	0.99880	0.03750				None None	None None None None	AGAP3\|0.094196358\|52.32%
	View	fakhrieh_salemi gatk indel	7	rs766984834 dbSNP Clinvar	150783922	649.73	T	TGGGG	PASS	1/1	15	FRAME_SHIFT	HIGH	None							None None	None None None None	AGAP3\|0.094196358\|52.32%
AGER
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	fakhrieh_salemi gatk indel	6	rs367675326 dbSNP Clinvar	32152085	665.73	GC	G	PASS	0/1	44	FRAME_SHIFT	HIGH	None	0.00539	0.00539					None None	None None None None	AGER\|0.358118947\|23.58%
AL133373.1
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	fakhrieh_salemi gatk indel	14	rs34650717 dbSNP Clinvar	92040589	787.73	TC	T	PASS	1/1	22	FRAME_SHIFT	HIGH	None	0.49900	0.49900	0.48349				None None	None None None None	None
ALG9