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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

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Genes:
AATF, ABCA10, ABCA9, ABCC3, ACOX1, ALOX12, ATP2A3, AZI1, C17orf70, CCDC182, CCDC57, CLUH, CNTROB, DBF4B, DVL2, FADS6, FAM187A, GEMIN4, HGS, HOXB1, HSD17B1, IGF2BP1, ITGA3, KIF1C, KLHL10, KRTAP1-5, KRTAP4-3, LRRC37B, LUC7L3, MINK1, MYO18A, NEURL4, NFE2L1, NOG, NPB, OR1A1, RNASEK, RNF213, RPL19, SDF2, SDK2, SLFN13, SLFN5, SMCR8, SRCIN1, SREBF1, STRA13, TBC1D16, TLK2, TMEM95, TRIM37, UTP18, XAF1, XYLT2,

+ Genes associated with diseases 11

Genes at Omim

ACOX1, GEMIN4, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TLK2, TRIM37, XYLT2,

ACOX1	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
GEMIN4	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
HOXB1	Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA3	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
KIF1C	Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10	Spermatogenic failure 11, 615081 (3)
NOG	Brachydactyly, type B2, 611377 (3) Multiple synostoses syndrome 1, 186500 (3) Stapes ankylosis with broad thumbs and toes, 184460 (3) Symphalangism, proximal, 1A, 185800 (3) Tarsal-carpal coalition syndrome, 186570 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
TLK2	Mental retardation, autosomal dominant 57, 618050 (3)
TRIM37	Mulibrey nanism, 253250 (3)
XYLT2	{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3) Spondyloocular syndrome, 605822 (3)

Genes at Clinical Genomics Database

ACOX1, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TRIM37,

ACOX1	Peroxisomal acyl-CoA oxidase deficiency
HOXB1	Facial paresis, hereditary congenital, 3
ITGA3	Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
KIF1C	Spastic ataxia 2, autosomal recessive
KLHL10	Spermatogenic failure 11
NOG	Brachydactyly, type B2 Tarsal-carpal coalition syndrome Multiple synostosis syndrome 1 Symphalangism, proximal Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
RNF213	Moyamoya disease 2
TRIM37	Mulibrey nanism

Genes at HGMD

Summary

Number of Variants: 288
Number of Genes: 54

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	ex_013_mod	17	rs559815796 dbSNP Clinvar	7759957	3814.14	G	C	PASS	0/1	24	None	None	None	0.00020	0.00020					None None	None None None None	None
TRIM37
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	ex_013_mod	17	rs143642427 dbSNP Clinvar	57094676	629.51	G	C	PASS	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020	0.00031	0.15	0.00		None None	None None None None	TRIM37\|0.928220593\|2.79%
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	ex_013_mod	17	rs570297127 dbSNP Clinvar	79895125	1794.54	G	C	PASS	0/1	17	None	None	None	0.00020	0.00020					None None	None None None None	PYCR1\|0.14269475\|44.04%
NPB
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	ex_013_mod	17	rs558554720 dbSNP Clinvar	79860438	3385.7	C	A	PASS	0/1	17	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	NPB\|0.001966424\|91.08%,PCYT2\|0.058928096\|60.18%
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	ex_013_mod	17	rs560420689 dbSNP Clinvar	10258622	1608.92	G	A	PASS	0/1	15	None	None	None	0.00020	0.00020					None None	None None None None	MYH13\|0.061120248\|59.55%
	View	ex_013_mod	17	rs538038124 dbSNP Clinvar	36666168	546.36	T	G	PASS	0/1	7	None	None	None	0.00020	0.00020					None None	None None None None	ARHGAP23\|0.124657713\|46.71%
AATF
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	ex_013_mod	17	rs140132823 dbSNP Clinvar	35310234	5121.5	G	A	PASS	0/1	35	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020	0.00085	0.55	0.00		None None	None None None None	AATF\|0.980408321\|1.45%
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	ex_013_mod	17	rs200959334 dbSNP Clinvar	27417792	567.51	G	A	PASS	0/1	53	None	None	None	0.00020	0.00020					None None	None None None None	MYO18A\|0.508450233\|15.46%,TIAF1\|0.017985292\|75.3%
	View	ex_013_mod	17	rs200213784 dbSNP Clinvar	73647380	244.51	T	C	PASS	0/1	32	None	None	None	0.00040	0.00040	0.00062				None None	None None None None	RECQL5\|0.131841612\|45.64%
	View	ex_013_mod	17	rs554811342 dbSNP Clinvar	15909650	1050.1	G	A	PASS	0/1	17	None	None	None	0.00040	0.00040					None None	None None None None	TTC19\|0.100133531\|51.14%
	View	ex_013_mod	17	rs571201301 dbSNP Clinvar	80130829	155.55	C	T	PASS	0/1	14	None	None	None	0.00040	0.00040					None None	None None None None	CCDC57\|0.000772577\|96.85%
	View	ex_013_mod	17	rs148190532 dbSNP Clinvar	16001934	1651.05	T	C	PASS	0/1	24	None	None	None	0.00040	0.00040					None None	None None None None	NCOR1\|0.942283614\|2.42%
	View	ex_013_mod	17	rs182260944 dbSNP Clinvar	41158876	523.51	G	C	PASS	0/1	49	None	None	None	0.00040	0.00040					None None	None None None None	IFI35\|0.010107368\|80.77%
	View	ex_013_mod	17	rs536191315 dbSNP Clinvar	49156892	1223.2	G	A	PASS	0/1	26	None	None	None	0.00040	0.00040					None None	None None None None	SPAG9\|0.484154198\|16.54%
	View	ex_013_mod	17	rs549912317 dbSNP Clinvar	78180974	736.08	G	A	PASS	0/1	54	None	None	None	0.00040	0.00040					None None	None None None None	CARD14\|0.016890899\|75.93%,SGSH\|0.030674415\|69.12%
UTP18
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	ex_013_mod	17	rs201970296 dbSNP Clinvar	49374357	6204.08	T	C	PASS	0/1	20	None	None	None	0.00040	0.00040	0.00110	0.01	0.00		None None	None None None None	UTP18\|0.292102848\|28.21%
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	ex_013_mod	17	rs182372223 dbSNP Clinvar	18286025	8022.5	G	T	PASS	0/1	33	None	None	None	0.00060	0.00060					None None	None None None None	EVPLL\|0.002239233\|90.3%
SMCR8