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Genes:
ABCC2, ABLIM1, ADAM12, ADAM8, ADAMTS14, ADIRF, ADRB1, AFAP1L2, AGAP7, AIFM2, AKR1C3, AKR1C4, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD30A, ANXA11, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ARMS2, ATE1, ATRNL1, BAG3, BAMBI, BEND7, BICC1, BMPR1A, BMS1, BTBD16, C10ORF68, C10orf107, C10orf118, C10orf120, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf95, CACNB2, CALHM1, CALHM3, CALY, CAMK2G, CCAR1, CCDC3, CCDC6, CCNY, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHST15, CNNM2, COL13A1, COL17A1, CPEB3, CPXM2, CTBP2, CUBN, CUL2, CUZD1, CWF19L1, CYP17A1, CYP26A1, CYP26C1, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNMBP, DNTT, DOCK1, DPYSL4, DUSP5, DYDC2, EBF3, EBLN1, ECHDC3, ECHS1, EGR2, EIF4EBP2, ENO4, EPC1, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM13C, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM24B, FAM35A, FAM45A, FANK1, FAS, FGFR2, FRA10AC1, FRMPD2, GBF1, GFRA1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GSTO1, GSTO2, GTPBP4, HABP2, HELLS, HIF1AN, HK1, HKDC1, HPS1, HPSE2, HSPA12A, IFIT1, IFIT1B, IFIT2, IFIT5, INA, INPP5F, IPMK, ITGA8, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KIAA1217, KIAA1279, KIAA1462, KIF20B, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPK, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LZTS2, MAP3K8, MASTL, MAT1A, MBL2, MCM10, MEIG1, MKI67, MLLT10, MMRN2, MMS19, MSRB2, MTG1, MTRNR2L5, MTRNR2L7, MYO3A, MYOF, MYPN, NCOA4, NDST2, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NOC3L, NODAL, NPY4R, NRAP, NRG3, NRP1, NT5C2, OBFC1, OGDHL, OLAH, OPN4, OPTN, OR13A1, PALD1, PANK1, PAOX, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PFKP, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPAPDC1A, PPP2R2D, PRF1, PRLHR, PSTK, PTCHD3, PTPRE, PWWP2B, R3HCC1L, RAB11FIP2, RBM20, RBP3, RET, RNLS, RPP38, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC23IP, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SLC18A2, SLC18A3, SLC29A3, SLC39A12, SLIT1, SMC3, SORBS1, SORCS3, SPAG6, SRGN, STAM, STAMBPL1, STK32C, SUPV3L1, SVIL, SYT15, TACC2, TAF3, TBC1D12, TCERG1L, TCTN3, TECTB, TET1, THNSL1, TLL2, TM9SF3, TMEM180, TMEM72, TNKS2, TRUB1, TSPAN14, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, VCL, VDAC2, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WDR96, ZDHHC6, ZFYVE27, ZMIZ1, ZNF239, ZNF33A, ZNF365, ZNF438, ZNF503, ZSWIM8, ZWINT,

+ Genes associated with diseases 78

Genes at Omim

ABCC2, ADRB1, AKR1C4, ALOX5, ANK3, ANXA11, ARMC4, BAG3, BICC1, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CEP55, CHAT, CNNM2, COL13A1, COL17A1, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, DNA2, EBF3, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPSE2, ITGA8, KIAA1279, LGI1, LIPA, LIPN, MAP3K8, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PNLIP, PRF1, RBM20, RBP3, RET, SFTPA2, SFXN4, SGPL1, SLC18A2, SLC18A3, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZNF365,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ADRB1	[Resting heart rate], 607276 (3) {Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ALOX5	{Asthma, diminished response to antileukotriene treatment in}, 600807 (3) {Atherosclerosis, susceptibility to} (3)
ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BMS1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2	Brugada syndrome 4, 611876 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1	Cone-rod dystrophy 15, 613660 (3) Retinitis pigmentosa 65, 613660 (3)
CEP55	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CNNM2	Hypomagnesemia 6, renal, 613882 (3) Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1	17,20-lyase deficiency, isolated, 202110 (3) 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1	Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8	{Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCLRE1C	Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3) ?Seckel syndrome 8, 615807 (3)
EBF3	Hypotonia, ataxia, and delayed development syndrome, 617330 (3)
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2	Charcot-Marie-Tooth disease, type 1D, 607678 (3) Hypomyelinating neuropathy, congenital, 1, 605253 (3) Dejerine-Sottas disease, 145900 (3)
ERCC6	Cerebrooculofacioskeletal syndrome 1, 214150 (3) {Lung cancer, susceptibility to}, 211980 (3) {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3) Cockayne syndrome, type B, 133540 (3) De Sanctis-Cacchione syndrome, 278800 (3) Premature ovarian failure 11, 616946 (3) UV-sensitive syndrome 1, 600630 (3)
ERLIN1	Spastic paraplegia 62, 615681 (3)
FAS	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) Squamous cell carcinoma, burn scar-related, somatic (3) {Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
HABP2	{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1	Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3)
HPS1	Hermansky-Pudlak syndrome 1, 203300 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
KIAA1279	Goldberg-Shprintzen megacolon syndrome, 609460 (3)
LGI1	Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA	Cholesteryl ester storage disease, 278000 (3) Wolman disease, 278000 (3)
LIPN	Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8	Lung cancer, somatic, 211980 (3)
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2	{Chronic infections, due to MBL deficiency}, 614372 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYPN	Cardiomyopathy, dilated, 1KK, 615248 (3) Cardiomyopathy, familial restrictive, 4, 615248 (3) Cardiomyopathy, hypertrophic, 22, 615248 (3) Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2	FINCA syndrome, 618278 (3)
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL	Heterotaxy, visceral, 5, 270100 (3)
NT5C2	Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PDE6C	Cone dystrophy 4, 613093 (3)
PLAU	Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1	Nephrotic syndrome, type 3, 610725 (3)
PNLIP	?Pancreatic lipase deficiency, 614338 (3)
PRF1	Aplastic anemia, 609135 (3) Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) Lymphoma, non-Hodgkin, 605027 (3)
RBM20	Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3	?Retinitis pigmentosa 66, 615233 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
SFTPA2	Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4	Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1	Nephrotic syndrome, type 14, 617575 (3)
SLC18A2	?Parkinsonism-dystonia, infantile, 2, 618049 (3)
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3	Cornelia de Lange syndrome 3, 610759 (3)
TCTN3	Joubert syndrome 18, 614815 (3) Orofaciodigital syndrome IV, 258860 (3)
TUBB8	Oocyte maturation defect 2, 616780 (3)
VCL	Cardiomyopathy, dilated, 1W, 611407 (3) Cardiomyopathy, hypertrophic, 15, 613255 (3)
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZFYVE27	Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZNF365	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ADRB1, ALOX5, ARMC4, BAG3, BICC1, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CHAT, CNNM2, COL13A1, COL17A1, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, DNA2, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPSE2, IPMK, ITGA8, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PRF1, RBM20, RBP3, RET, SFTPA2, SFXN4, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27,

ABCC2	Dubin-Johnson syndrome
ADRB1	Beta-blocker response, association with
ALOX5	Asthma, diminished response to antileukotriene treatment in
ARMC4	Ciliary dyskinesia, primary, 23
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BICC1	Renal dysplasia, cystic, susceptibility to
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BMS1	Aplasia cutis congenita, nonsyndromic
CACNB2	Brugada syndrome 4
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CDHR1	Cone-rod dystrophy 15 Retinitis pigmentosa 65
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CNNM2	Hypomagnesemia 6 ,renal
COL13A1	Myasthenic syndrome, congenital, 19
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
CUBN	Megaloblastic anemia-1, Finnish type
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1	Focal facial dermal dysplasia 4
CYP2C8	Rhabdomyolysis, cerivastatin-induced
DCLRE1C	Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1	Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria
DNA2	Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6 Seckel syndrome 8
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2	Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
ERLIN1	Spastic paraplegia 62, autosomal recessive
FAS	Autoimmune lymphoproliferative syndrome, type IA
FGFR2	Lacrimoauriculodentodigital syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome
HABP2	Thyroid cancer, nonmedullary 5
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1	Hermansky-Pudlak syndrome 1
HPSE2	Ochoa syndrome Urofacial syndrome 1
IPMK	Small intestinal carcinoid, hereditary
ITGA8	Renal agenesis, bilateral
LGI1	Epilepsy, familial temporal lobe, 1
LIPA	Cholesterol ester storage disease Wolman disease
LIPN	Ichthyosis, congenital, autosomal recessive 8
MASTL	Thrombocytopenia 2
MAT1A	Methionine adenosyltransferase deficiency
MBL2	Mannose-binding protein deficiency
MYO3A	Deafness, autosomal recessive 30
MYPN	Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4
NEUROG3	Diarrhea 4, malabsorptive, congenital
NFKB2	Immunodeficiency, common variable, 10
NODAL	Heterotaxy, visceral, 5
NT5C2	Spastic paraplegia 45
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PDE6C	Cone dystrophy 4
PLAU	Quebec platelet disorder
PLCE1	Nephrotic syndrome, type 3
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset
RBM20	Cardiomyopathy, dilated, 1DD
RBP3	Retinitis pigmentosa 66
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
SFTPA2	Pulmonary fibrosis, idiopathic
SFXN4	Combined oxidative phosphorylation deficiency 18
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SMC3	Cornelia de Lange syndrome 3
TCTN3	Joubert syndrome 18 Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8	Oocyte maturation defect 2
VCL	Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W
WDR11	Hypogonadotropic hypogonadism Kallmann syndrome
ZFYVE27	Spastic paraplegia 33, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 1394
Number of Genes: 325

Export to: CSV

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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	tsvc_variants_ionxpress_001	10	rs807022 dbSNP Clinvar	102770327	102.887	A	G	PASS	0/1	53	None	None	None	0.77616	0.77620					None None	None None None None	PDZD7\|0.166478765\|40.77%
SEMA4G
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	tsvc_variants_ionxpress_001	10	rs11591349 dbSNP Clinvar	102744331	105.648	A	T	PASS	0/1	40	None	None	None	0.25559	0.25560		0.10	0.12		None None	None None None None	MRPL43\|0.129764322\|45.91%,SEMA4G\|0.160774225\|41.43%
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	tsvc_variants_ionxpress_001	10	rs368424785 dbSNP Clinvar	102247753	106.441	A	G	PASS	0/1	33	None	None	None	0.00020	0.00020	0.00008				None None	None None None None	SEC31B\|0.238135717\|32.57%
SCD
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	tsvc_variants_ionxpress_001	10	rs2234970 dbSNP Clinvar	102116311	121.581	A	C	PASS	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.38898	0.38900	0.39959	1.00	0.00		None None	None None None None	SCD\|0.166983144\|40.66%
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	tsvc_variants_ionxpress_001	10	rs3818539 dbSNP Clinvar	97174164	191.654	A	G	PASS	0/1	81	None	None	None	0.19768	0.19770					None None	None None None None	SORBS1\|0.560625158\|13.33%
SORBS1
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	tsvc_variants_ionxpress_001	10	rs943542 dbSNP Clinvar	97192324	295.49	A	G	PASS	1/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.98083	0.98080	0.01984	1.00	0.00		None None	None None None None	SORBS1\|0.560625158\|13.33%
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	tsvc_variants_ionxpress_001	10	rs2278841 dbSNP Clinvar	102056970	97.3624	A	G	PASS	0/1	49	None	None	None	0.41534	0.41530	0.07604				None None	None None None None	PKD2L1\|0.163925898\|41.03%
TCTN3
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	tsvc_variants_ionxpress_001	10	rs10786229 dbSNP Clinvar	97447373	155.138	A	T	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.42472	0.42470	0.35176				None None	None None None None	TCTN3\|0.031987245\|68.63%
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	tsvc_variants_ionxpress_001	10	rs986266 dbSNP Clinvar	101980459	246.384	A	G	PASS	1/1	27	None	None	None	0.97684	0.97680	0.02471				None None	None None None None	CHUK\|0.906139111\|3.32%
ABLIM1
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	tsvc_variants_ionxpress_001	10	rs2247528 dbSNP Clinvar	116307504	388.509	A	G	PASS	0/1	132	SYNONYMOUS_CODING	LOW	None	0.78315	0.78310	0.20821				None None	None None None None	ABLIM1\|0.44358146\|18.51%
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	tsvc_variants_ionxpress_001	10	rs694883 dbSNP Clinvar	116075228	272.668	A	G	PASS	1/1	30	None	None	None	0.95527	0.95530					None None	None None None None	AFAP1L2\|0.092781823\|52.66%
	View	tsvc_variants_ionxpress_001	10	rs11597086 dbSNP Clinvar	101953705	33.1649	A	C	PASS	0/1	29	None	None	None	0.17193	0.17190	0.30624				None None	None None None None	CHUK\|0.906139111\|3.32%
	View	tsvc_variants_ionxpress_001	10	rs10883439 dbSNP Clinvar	101841153	173.724	A	G	PASS	1/1	19	None	None	None	0.89297	0.89300	0.09749				None None	None None None None	CPN1\|0.070299253\|57.42%