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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

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+ Genes 10

Genes:
CCER2, FBXO11, GOLGA8H, MAP7D1, MEF2A, MESP2, SRSF8, SUSD4, ZNF860, ZNF865,

+ Genes associated with diseases 3

Genes at Omim

FBXO11, MEF2A, MESP2,

FBXO11	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)

Genes at Clinical Genomics Database

MESP2,

MESP2	Spondylocostal dysostosis 2, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 10

Export to: CSV

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CCER2
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	f000043987_dp5_tag	19	rs144792695 dbSNP Clinvar	39401251	2656.12	CTGG	C	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	None
FBXO11
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	f000043987_dp5_tag	2	rs747252806 dbSNP Clinvar	48132725	413.12	AG...	A	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	FBXO11\|0.866072996\|4.34%
GOLGA8H
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	f000043987_dp5_tag	15	rs749625929 dbSNP Clinvar	30898092	244.17	CG...	C	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	GOLGA8H\|0.00189062\|91.27%
MAP7D1
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	f000043987_dp5_tag	1	.	36643709	1774.09	TCAG	T	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	MAP7D1\|0.14888564\|43.16%
MEF2A
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	f000043987_dp5_tag	15	.	100252709	11871.09	CC...	C,...	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	MEF2A\|0.792629794\|6.04%
MESP2
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	f000043987_dp5_tag	15	.	90320134	3211.1	AG...	A,*	LOW	1/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	MESP2\|0.100514843\|51.05%
SRSF8
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	f000043987_dp5_tag	11	rs782497055 dbSNP Clinvar	94800727	3202.88	GG...	G	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	None
SUSD4
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	f000043987_dp5_tag	1	rs143929528 dbSNP Clinvar	223536702	4797.12	TTGC	T	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE		0.03015	0.03215	0.04582				None None	None None None None	SUSD4\|0.109727826\|49.25%
ZNF860
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	f000043987_dp5_tag	3	.	32031911	3104.12	CT...	C	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	OSBPL10\|0.216658428\|34.77%,ZNF860\|0.002920234\|88.77%
ZNF865
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	f000043987_dp5_tag	19	rs762894169 dbSNP Clinvar	56125260	1972.12	CT...	C	LOW	0/1	0	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	ZNF865\|0.022863548\|72.78%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 10

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

CCER2

FBXO11

GOLGA8H

MAP7D1

MEF2A

MESP2

SRSF8

SUSD4

ZNF860

ZNF865

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