Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

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

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
ABCA10, AC024592.12, ACADS, ACAT2, ACOT11, ADH4, ANKRD36, ANKRD36C, ANKRD6, APBA3, APOBEC3H, AQP7, ARFGAP3, ARL2, ARRB1, ASAH1, AXDND1, AZGP1, BRWD3, BTNL2, C10ORF68, C12orf55, C14orf178, C16orf71, C1orf204, C20orf96, C2orf80, C5AR1, C7orf25, C7orf63, CAMKK1, CAPN14, CAST, CD163L1, CD68, CDC27, CDH23, CDK11A, CDRT15, CEACAM18, CENPE, CENPU, CHAF1A, CHAT, CHN2, CILP, CNPPD1, CNTROB, COL5A3, CPZ, CR1, CROCC, CRTAM, CSMD2, CTC1, CYP20A1, CYP2D7P, DBNDD2, DCDC1, DDX42, DLL3, DNAH10, DNAH11, DNAH14, DNAH6, DNAH9, DNPEP, DSCAML1, DTHD1, ECT2L, EFCAB4A, EFS, EIF2A, ENPEP, EOGT, EPHA1, EXD3, FAM114A1, FAM129C, FASN, FER1L6, FHAD1, FOCAD, FRG1B, GALNTL5, GANC, GCKR, GPR156, GYPA, GYPE, HEG1, HERPUD1, HFM1, HHLA1, HLA-A, HLA-B, HLA-C, HLA-DRB1, HMGXB3, HNF4G, HOPX, HOXD1, IFI35, IGHD2-2, IGHV3-30, IGHV4-28, IGLV11-55, INO80D, IRAK3, IRF7, ITGA8, ITIH4, JUP, KIAA0922, KIAA1731, KIFC3, LAMC3, LCN8, LGALS8, LILRA1, LILRB3, LPCAT1, LRP1, LRP2, LRP8, LRRK2, LY75-CD302, MAP2K3, MCTP2, MDH1B, MGARP, MICA, MINK1, MIS18BP1, MKI67, MLXIPL, MMP9, MRGPRF, MROH2B, MSH3, MUC12, MUC13, MUC16, MUC19, MUC2, MUC3A, MUTYH, MYBPH, MYO3A, MYOM2, NAAA, NBPF1, NBPF3, NID1, NLE1, NLRC5, NME8, NOM1, NOTCH3, NRCAM, NUP62CL, ORM1, OTOGL, PCK1, PDE4DIP, PGLYRP3, PKHD1, PLA2G4D, PLXDC1, PM20D1, PNPLA1, POMGNT1, PPAP2C, PPCDC, PRAME, PRSS1, PTPRQ, R3HDM1, RBAK-RBAKDN, RHAG, RNF213, S100A7L2, SDC2, SEC14L6, SETD8, SETDB2, SLC12A1, SLC15A5, SLC24A1, SLU7, STAB1, TAF1B, TBC1D2, TMEM45B, TMPRSS11F, TNK1, TNNT1, TPCN2, TRAPPC8, TRBC2, TRIM10, TRIM69, TTN, TULP3, UBN2, USP6, UVSSA, VPS54, VSTM1, VWA3B, WDR27, WDR46, WDR59, WDR66, WDR78, WDR93, YIPF1, ZAN, ZBBX, ZBP1, ZDHHC11, ZDHHC13, ZFYVE26, ZKSCAN1, ZNF177, ZNF695, ZNF705G, ZSCAN5C,

+ Genes associated with diseases 57

Genes at Omim

ACADS, ACAT2, AQP7, ASAH1, BRWD3, BTNL2, CAST, CDH23, CENPE, CHAT, CILP, CR1, CTC1, DLL3, DNAH11, DNAH9, EOGT, GCKR, GYPA, HFM1, HLA-A, HLA-B, HLA-C, HLA-DRB1, IRAK3, IRF7, ITGA8, ITIH4, JUP, LAMC3, LRP1, LRP2, LRP8, LRRK2, MMP9, MSH3, MUTYH, MYO3A, NME8, NOTCH3, OTOGL, PCK1, PNPLA1, POMGNT1, PRSS1, PTPRQ, RHAG, RNF213, SLC12A1, SLC24A1, TNNT1, TPCN2, TTN, UVSSA, VWA3B, WDR66, ZFYVE26,

ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
ASAH1	Farber lipogranulomatosis, 228000 (3) Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3	Mental retardation, X-linked 93, 300659 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (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)
CENPE	?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
CR1	CR1 deficiency (1) {Malaria, severe, resistance to}, 611162 (3) [Blood group, Knops system], 607486 (3) {?SLE susceptibility} (1)
CTC1	Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DLL3	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH9	Ciliary dyskinesia, primary, 40, 618300 (3)
EOGT	Adams-Oliver syndrome 4, 615297 (3)
GCKR	[Fasting plasma glucose level QTL 5], 613463 (3)
GYPA	{Malaria, resistance to}, 611162 (3) [Blood group, MNSs system], 111300 (3)
HFM1	Premature ovarian failure 9, 615724 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{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) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
IRAK3	{Asthma susceptibility 5}, 611064 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
ITIH4	{Hypercholesterolemia, susceptibility to}, 143890 (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
LRP1	?Keratosis pilaris atrophicans, 604093 (3)
LRP2	Donnai-Barrow syndrome, 222448 (3)
LRP8	{Myocardial infarction, susceptibility to}, 608446 (3)
LRRK2	{Parkinson disease 8}, 607060 (3)
MMP9	Metaphyseal anadysplasia 2, 613073 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MUTYH	Adenomas, multiple colorectal, 608456 (3) Gastric cancer, somatic, 613659 (3) Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3) Lateral meningocele syndrome, 130720 (3) ?Myofibromatosis, infantile 2, 615293 (3)
OTOGL	Deafness, autosomal recessive 84B, 614944 (3)
PCK1	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) Retinitis pigmentosa 76, 617123 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
PTPRQ	Deafness, autosomal dominant 73, 617663 (3) Deafness, autosomal recessive 84A, 613391 (3)
RHAG	Anemia, hemolytic, Rh-null, regulator type, 268150 (3) Overhydrated hereditary stomatocytosis, 185000 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
SLC12A1	Bartter syndrome, type 1, 601678 (3)
SLC24A1	Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
TNNT1	Nemaline myopathy 5, Amish type, 605355 (3)
TPCN2	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
UVSSA	UV-sensitive syndrome 3, 614640 (3)
VWA3B	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
WDR66	Spermatogenic failure 33, 618152 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ACADS, ASAH1, BRWD3, CAST, CDH23, CENPE, CHAT, CR1, CTC1, DLL3, DNAH11, EOGT, GYPA, HFM1, HLA-A, HLA-B, IRF7, ITGA8, JUP, LAMC3, LRP1, LRP2, LRRK2, MMP9, MSH3, MUTYH, MYO3A, NME8, NOTCH3, OTOGL, PKHD1, PNPLA1, POMGNT1, PRSS1, PTPRQ, RHAG, RNF213, SLC12A1, SLC24A1, TNNT1, TPCN2, TTN, UVSSA, VWA3B, ZFYVE26,

ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of
ASAH1	Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy
BRWD3	Mental retardation, X-linked 93
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CENPE	Microcephaly 13, primary, autosomal recessive
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CR1	Blood group, Knops system
CTC1	Cerebroretinal microangiopathy with calcifications and cysts
DLL3	Spondylocostal dysostosis 1, autosomal recessive
DNAH11	Ciliary dyskinesia, primary, 7
EOGT	Adams-Oliver syndrome 4
GYPA	Blood group, MN locus Blood group, Erik
HFM1	Premature ovarian failure 9
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
IRF7	Immunodeficiency 39
ITGA8	Renal agenesis, bilateral
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
LAMC3	Cortical malformations, occipital
LRP1	Schizophrenia
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
LRRK2	Parkinson disease 8 Dementia, Lewy body
MMP9	Metaphyseal anadysplasia 2
MSH3	Endometrial carcinoma
MUTYH	Familial adenomatous polyposis, 2 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
MYO3A	Deafness, autosomal recessive 30
NME8	Ciliary dyskinesia, primary, 6
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
OTOGL	Deafness, autosomal recessive 84B
PKHD1	Polycystic kidney disease, autosomal recessive
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PRSS1	Pancreatitis, hereditary
PTPRQ	Deafness, autosomal recessive 84
RHAG	Overhydrated hereditary stomatocytosis Anemia, hemolytic, Rh-null, regulator type Anemia, hemolytic,Rh-Mod type RHAG blood group
RNF213	Moyamoya disease 2
SLC12A1	Bartter syndrome, antenatal, type 1
SLC24A1	Night blindness, congenital stationary, type 1D
TNNT1	Nemaline myopathy 5
TPCN2	Skin/hair/eye pigmentation, variation in, 10
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
UVSSA	UV-sensitive syndrome 3
VWA3B	Spinocerebellar ataxia, autosomal recessive 22
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 242
Number of Genes: 228

Export to: CSV

Page 1 of 3
next

Page 1 of 3
next

ABCA10
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	galaxy7-vcffilter__3466nr4	17	rs11657804 dbSNP Clinvar	67210992	68.9983	T	C	.	0/1	16	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.26158	0.26160	0.29885	0.30	0.12		None None	None None None None	ABCA10\|0.002179826\|90.49%
AC024592.12
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	galaxy7-vcffilter__3466nr4	19	rs778971 dbSNP Clinvar	5867748	2191.89	G	T	.	1/1	70	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.63878	0.63880	0.46529	0.09	0.65		None None	None None None None	FUT5\|0.001156471\|94.68%
ACADS
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	galaxy7-vcffilter__3466nr4	12	rs1799958 dbSNP Clinvar	121176083	1008.41	G	A	.	0/1	84	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.18231	0.18230	0.19683	0.01	0.44		None None	None None None None	ACADS\|0.070436549\|57.39%
ACAT2
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	galaxy7-vcffilter__3466nr4	6	rs25683 dbSNP Clinvar	160196343	502.253	A	G	.	0/1	47	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.36522	0.36520	0.45433	0.04	0.82		None None	None None None None	ACAT2\|0.090493467\|53.12%
ACOT11
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	galaxy7-vcffilter__3466nr4	1	rs1702003 dbSNP Clinvar	55060362	641.363	G	A	.	0/1	63	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.25539	0.25540	0.17154	0.95	0.00		None None	None None None None	ACOT11\|0.083532045\|54.52%
ADH4
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	galaxy7-vcffilter__3466nr4	4	rs1126673 dbSNP Clinvar	100045616	415.049	C	T	.	0/1	66	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.84724	0.84720	0.26992	1.00	0.00		None None	None None None None	ADH4\|0.01057839\|80.46%
ANKRD36
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	galaxy7-vcffilter__3466nr4	2	rs10194525 dbSNP Clinvar	97877478	346.909	G	A	.	0/1	103	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.02	0.61		None None	None None None None	ANKRD36\|0.001192347\|94.46%
ANKRD36C
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	galaxy7-vcffilter__3466nr4	2	.	96610921	1593.85	TTC	GTC	.	0/1	202	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE							None None	None None None None	ANKRD36C\|0.001406745\|93.3%
ANKRD6
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	galaxy7-vcffilter__3466nr4	6	rs61736690 dbSNP Clinvar	90337302	304.615	A	C	.	0/1	33	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.01617	0.01617	0.01426	1.00	0.00		None None	None None None None	ANKRD6\|0.151109383\|42.82%,LYRM2\|0.143823506\|43.9%
APBA3
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	galaxy7-vcffilter__3466nr4	19	rs983581481 dbSNP Clinvar	3754018	1187.32	T	C	.	0/1	101	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	APBA3\|0.009354531\|81.41%