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:
ACTN3, ADH1C, C8orf12, FOXD4, GBA3, LEPREL2, MED28, METTL8, NDUFS6, NLRP8, NPSR1, OAS2, OR11H7, PKD1L2, PNLIPRP2, PRIM2, PSG7, PTCHD3, SERPINB11, TAAR9, TAP2, TGOLN2, TMEM120A, TSGA10IP, ZNF443,

+ Genes associated with diseases 5

Genes at Omim

ACTN3, ADH1C, NDUFS6, NPSR1, TAP2,

ACTN3	[Alpha-actinin-3 deficiency], 617749 (3) [Sprinting performance], 617749 (3)
ADH1C	{Parkinson disease, susceptibility to}, 168600 (3) {Alcohol dependence, protection against}, 103780 (3)
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)

Genes at Clinical Genomics Database

NDUFS6, TAP2,

NDUFS6	Mitochondrial complex I deficiency
TAP2	Bare lymphocyte syndrome, type I

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 25

Export to: CSV

Page 1 of 1

Page 1 of 1

Some information about this general settings option

Other sets of options are available

Allow the user to show his name in blog posts

ACTN3
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	mr50 2	11	rs1815739 dbSNP Clinvar	66328095	62.9	T	C	PASS	1/1	321	STOP_LOST	HIGH	MISSENSE	0.59924	0.59920	0.35908				None None	None None None None	None
ADH1C
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	mr50 2	4	rs283413 dbSNP Clinvar	100268190	66.6	A	C	PASS	1/1	66	STOP_LOST	HIGH	MISSENSE	0.99281	0.99280	0.00839				None None	None None None None	None
C8orf12
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	mr50 2	8	rs3021518 dbSNP Clinvar	11296049	150.0	T	A	PASS	0/1	54	STOP_LOST	HIGH	MISSENSE	0.07927	0.07927					None None	None None None None	FAM167A-AS1\|0.000825171\|96.52%,FAM167A\|0.032787665\|68.25%
FOXD4
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	mr50 2	9	rs79220013 dbSNP Clinvar	116800	37.4	C	G	PASS	0/1	8	STOP_LOST	HIGH	MISSENSE			0.20310				None None	None None None None	FOXD4\|0.006056969\|84.51%
GBA3
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	mr50 2	4	rs358231 dbSNP Clinvar	22820504	58.4	A	T	PASS	1/1	166	STOP_LOST	HIGH	MISSENSE	0.89157	0.89160	0.11608				None None	None None None None	None
LEPREL2
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	mr50 2	12	rs1129649 dbSNP Clinvar	6948468	150.0	T	C	PASS	0/1	150	STOP_LOST	HIGH	MISSENSE	0.37879	0.37880	0.34588	0.45	0.00		None None	None None None None	P3H3\|0.042788046\|64.86%
MED28
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	mr50 2	4	rs2315552 dbSNP Clinvar	17627294	58.3	A	G	PASS	1/1	170	STOP_LOST	HIGH	MISSENSE	0.48263	0.48260					None None	None None None None	MED28\|0.193447823\|37.48%
METTL8
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	mr50 2	2	rs10205459 dbSNP Clinvar	172180771	64.4	A	G	PASS	1/1	141	STOP_LOST	HIGH	MISSENSE	0.99820	0.99820	0.00241				None None	None None None None	METTL8\|0.246340052\|31.91%
NDUFS6
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	mr50 2	5	rs4147773 dbSNP Clinvar	1814783	66.7	T	C	PASS	0/1	128	STOP_LOST	HIGH	MISSENSE	0.61302	0.61300					None None	None None None None	NDUFS6\|0.00883288\|81.82%
NLRP8
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	mr50 2	19	rs306457 dbSNP Clinvar	56499279	70.6	G	C	PASS	0/1	286	STOP_LOST	HIGH	MISSENSE	0.72464	0.72460	0.26672				None None	None None None None	NLRP8\|0.000383915\|99.05%
NPSR1
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	mr50 2	7	rs10275028 dbSNP Clinvar	34889222	150.0	T	C	PASS	0/1	174	STOP_LOST	HIGH	MISSENSE	0.26717	0.26720	0.36353				None None	None None None None	NPSR1\|0.153358604\|42.47%
OAS2
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	mr50 2	12	rs15895 dbSNP Clinvar	113448288	64.0	A	G	PASS	1/1	83	STOP_LOST	HIGH	MISSENSE	0.86442	0.86440	0.25027				None None	None None None None	OAS2\|0.001433626\|93.17%
OR11H7
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	mr50 2	14	rs1953558 dbSNP Clinvar	20698239	61.3	T	C	PASS	1/1	286	STOP_LOST	HIGH	MISSENSE	0.46426	0.46430					None None	None None None None	None
PKD1L2
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	mr50 2	16	rs8054182 dbSNP Clinvar	81145807	55.2	C	G	PASS	1/1	529	STOP_LOST	HIGH	MISSENSE	0.83666	0.83670	0.08046				None None	None None None None	PKD1L2\|0.005531409\|85.17%
PNLIPRP2
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	mr50 2	10	rs11544712 dbSNP Clinvar	118387282	150.0	A	G	PASS	0/1	262	STOP_LOST	HIGH	MISSENSE	0.36222	0.36220	0.28099				None None	None None None None	PNLIPRP2\|0.021607761\|73.38%
PRIM2
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	mr50 2	6	rs4535533 dbSNP Clinvar	57467100	150.0	G	C	PASS	0/1	253	STOP_LOST	HIGH	MISSENSE							None None	None None None None	PRIM2\|0.188824743\|37.96%
PSG7
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	mr50 2	19	rs113247044 dbSNP Clinvar	43439694	62.2	A	G	PASS	0/1	487	STOP_LOST	HIGH	MISSENSE	0.13958	0.13960	0.18197				None None	None None None None	None
PTCHD3
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	mr50 2	10	rs2505323 dbSNP Clinvar	27687225	59.9	A	G	PASS	1/1	101	STOP_LOST	HIGH	MISSENSE	0.55012	0.55010	0.36821				None None	None None None None	PTCHD3\|0.001856639\|91.39%
SERPINB11
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	mr50 2	18	rs4940595 dbSNP Clinvar	61379838	150.0	T	G	PASS	0/1	148	STOP_LOST	HIGH	MISSENSE			0.34001				None None	None None None None	SERPINB11\|0.015027277\|77.1%
TAAR9
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	mr50 2	6	rs2842899 dbSNP Clinvar	132859609	64.2	T	A	PASS	1/1	398	STOP_LOST	HIGH	MISSENSE	0.80571	0.80570	0.23857				None None	None None None None	None
TAP2
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	mr50 2	6	rs241448 dbSNP Clinvar	32796685	69.5	A	G	PASS	0/1	237	STOP_LOST	HIGH	MISSENSE	0.31110	0.31110	0.18023				None None	None None None None	TAP2\|0.028431787\|70.24%
TGOLN2
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	mr50 2	2	rs4240199 dbSNP Clinvar	85549868	64.0	A	G	PASS	1/1	149	STOP_LOST	HIGH	MISSENSE	0.77895	0.77900	0.33657	0.04	0.89		None None	None None None None	TGOLN2\|0.000615886\|97.82%
TMEM120A
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	mr50 2	7	rs4732519 dbSNP Clinvar	75621827	63.7	A	G	PASS	1/1	119	STOP_LOST	HIGH	MISSENSE	1.00000	1.00000					None None	None None None None	None
TSGA10IP
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	mr50 2	11	rs9795469 dbSNP Clinvar	65713207	59.8	T	C	PASS	1/1	309	STOP_LOST	HIGH	MISSENSE	0.99940	0.99940	0.00072				None None	None None None None	None
ZNF443
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	mr50 2	19	rs28559848 dbSNP Clinvar	12540971	59.5	T	A	PASS	0/1	109	STOP_LOST	HIGH	MISSENSE	0.27676	0.27680					None None	None None None None	ZNF443\|0.000694602\|97.28%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 25

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ACTN3

ADH1C

C8orf12

FOXD4

GBA3

LEPREL2

MED28

METTL8

NDUFS6

NLRP8

NPSR1

OAS2

OR11H7

PKD1L2

PNLIPRP2

PRIM2

PSG7

PTCHD3

SERPINB11

TAAR9

TAP2

TGOLN2

TMEM120A

TSGA10IP

ZNF443

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed