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 7

Genes:
C7orf60, DNAH11, HTR5A, MCM7, OR6V1, PKD1L1, RSPH10B,

+ Genes associated with diseases 2

Genes at Omim

DNAH11, PKD1L1,

DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)

Genes at Clinical Genomics Database

DNAH11,

DNAH11	Ciliary dyskinesia, primary, 7

Genes at HGMD

Summary

Number of Variants: 373
Number of Genes: 7

Export to: CSV

Page 1 of 4
next

Page 1 of 4
next

C7orf60
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	552017_ngs_ex	7	.	112462300	0.0	T	G	PASS	0/1	71	None	None	None							None None	None None None None	C7orf60\|0.553008383\|13.59%
DNAH11
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	552017_ngs_ex	7	.	21784504	0.0	G	A	PASS	0/1	36	None	None	None				0.42	0.04		None None	None None None None	DNAH11\|0.38215847\|21.9%
HTR5A
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	552017_ngs_ex	7	.	154875918	0.0	A	G	sbF	1/1	64	None	None	None							None None	None None None None	HTR5A\|0.060192042\|59.81%
	View	552017_ngs_ex	7	.	154875933	0.0	G	A	sbF	1/1	69	None	None	None							None None	None None None None	HTR5A\|0.060192042\|59.81%
MCM7
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	552017_ngs_ex	7	.	99695852	0.0	T	A	PASS	1/1	49	None	None	None				0.13	0.05		None None	None None None None	MCM7\|0.759118658\|6.86%
OR6V1
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	552017_ngs_ex	7	.	142749506	0.0	A	G	PASS	0/1	66	None	None	None							None None	None None None None	OR6V1\|0.007508913\|83.05%
PKD1L1
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	552017_ngs_ex	7	.	47873981	0.0	T	C	sbF	1/1	65	None	None	None				0.13	0.00		None None	None None None None	HUS1\|0.052679196\|61.85%,PKD1L1\|0.001445956\|93.06%
RSPH10B
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	552017_ngs_ex	7	.	5982995	0.0	C	T	PASS	0/1	43	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
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	552017_ngs_ex	7	.	984945	0.0	T	C	sbF	0/1	23	None	None	None							None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	552017_ngs_ex	7	.	1936821	0.0	C	T	PASS	0/1	113	None	None	None							None None	None None None None	MAD1L1\|0.134111219\|45.25%
	View	552017_ngs_ex	7	.	2217977	0.0	G	A	sbF	0/1	68	None	None	None							None None	None None None None	MAD1L1\|0.134111219\|45.25%
	View	552017_ngs_ex	7	.	2513247	0.0	A	AGATG	PASS	0/1	116	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	2525215	0.0	A	G	sbF	0/1	50	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	2538147	0.0	T	C	PASS	0/1	126	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	2538603	0.0	T	C	PASS	0/1	90	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	2547488	0.0	T	C	PASS	0/1	29	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	5299062	0.0	C	T	sbF	0/1	152	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	5973418	0.0	C	G	PASS	0/1	147	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	5973522	0.0	A	G	PASS	0/1	110	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	5987144	0.0	T	C	PASS	1/1	58	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	5987357	0.0	G	A	sbF	1/1	146	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	5997349	0.0	G	C	PASS	1/1	66	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	5997426	0.0	GA	G	sbF	0/1	48	None	None	None							None None	None None None None	RSPH10B\|0.004285795\|86.62%
	View	552017_ngs_ex	7	.	8086334	0.0	C	T	PASS	0/1	97	None	None	None							None None	None None None None	GLCCI1\|0.165915956\|40.82%
	View	552017_ngs_ex	7	.	11469934	0.0	G	C	sbF	0/1	60	None	None	None							None None	None None None None	THSD7A\|0.279550197\|29.12%
	View	552017_ngs_ex	7	.	11541494	0.0	T	C	PASS	1/1	148	None	None	None							None None	None None None None	THSD7A\|0.279550197\|29.12%
	View	552017_ngs_ex	7	.	11541507	0.0	T	C	sbF	0/1	138	None	None	None							None None	None None None None	THSD7A\|0.279550197\|29.12%
	View	552017_ngs_ex	7	.	16278234	0.0	TA	T	PASS	0/1	75	None	None	None							None None	None None None None	ISPD\|0.067515481\|58.01%
	View	552017_ngs_ex	7	.	18727720	0.0	A	G	PASS	1/1	137	None	None	None							None None	None None None None	HDAC9\|0.999991068\|0.05%
	View	552017_ngs_ex	7	.	18954247	0.0	C	T	PASS	1/1	43	None	None	None							None None	None None None None	HDAC9\|0.999991068\|0.05%
	View	552017_ngs_ex	7	.	21558875	0.0	A	T	PASS	0/1	38	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	21558946	0.0	A	G	PASS	0/1	43	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	21588619	0.0	C	T	PASS	1/1	58	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21601600	0.0	G	A	PASS	1/1	51	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21683813	0.0	G	A	sbF	0/1	35	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21725834	0.0	C	T	PASS	0/1	122	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21725879	0.0	G	A	PASS	0/1	135	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21735825	0.0	G	A	PASS	1/1	34	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21738831	0.0	C	T	PASS	1/1	52	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21739660	0.0	A	G	PASS	1/1	117	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21816533	0.0	G	A	PASS	0/1	92	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21854375	0.0	G	T	sbF	1/1	60	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	33097371	0.0	G	A	PASS	1/1	42	None	None	None							None None	None None None None	NT5C3A\|0.150599903\|42.9%
	View	552017_ngs_ex	7	.	142867630	0.0	A	G	sbF	1/1	75	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	21861922	0.0	T	C	PASS	0/1	127	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21861948	0.0	T	C	PASS	1/1	112	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	rs770184984 dbSNP Clinvar	21884396	0.0	A	G	PASS	0/1	98	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	21892426	0.0	C	T	PASS	0/1	28	None	None	None							None None	None None None None	DNAH11\|0.38215847\|21.9%
	View	552017_ngs_ex	7	.	22976212	0.0	T	C	sbF	0/1	29	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	23125082	0.0	C	T	PASS	0/1	56	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	24285390	0.0	G	A	PASS	1/1	109	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	24289514	0.0	C	T	PASS	1/1	58	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	24663679	0.0	G	A	PASS	0/1	88	None	None	None							None None	None None None None	MPP6\|0.656872912\|9.84%
	View	552017_ngs_ex	7	.	44999799	0.0	TG...	T	PASS	0/1	77	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	24719176	0.0	T	C	PASS	0/1	82	None	None	None							None None	None None None None	MPP6\|0.656872912\|9.84%
	View	552017_ngs_ex	7	.	27129474	0.0	T	G	PASS	1/1	43	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	27130540	0.0	C	T	sbF	0/1	51	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	27170809	0.0	A	AG	PASS	1/1	92	None	None	None							None None	None None None None	HOXA3\|0.96040856\|1.95%
	View	552017_ngs_ex	7	.	27170962	0.0	C	CA	sbF	0/1	115	None	None	None							None None	None None None None	HOXA3\|0.96040856\|1.95%
	View	552017_ngs_ex	7	.	27171929	0.0	C	T	PASS	0/1	75	None	None	None							None None	None None None None	HOXA3\|0.96040856\|1.95%
	View	552017_ngs_ex	7	.	28956184	0.0	G	A	PASS	0/1	109	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	28956604	0.0	G	A	PASS	0/1	65	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	28956941	0.0	C	T	PASS	0/1	93	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	28957328	0.0	T	C	PASS	1/1	161	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	28957525	0.0	G	C	PASS	0/1	180	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	30595045	0.0	C	G	PASS	0/1	77	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	30633729	0.0	C	T	PASS	0/1	12	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	30755715	0.0	A	G	PASS	1/1	124	None	None	None							None None	None None None None	INMT\|0.002760488\|89.12%
	View	552017_ngs_ex	7	.	30755820	0.0	T	G	PASS	1/1	134	None	None	None							None None	None None None None	INMT\|0.002760488\|89.12%
	View	552017_ngs_ex	7	.	33021334	0.0	A	G	PASS	0/1	28	None	None	None							None None	None None None None	AVL9\|0.207787031\|35.83%,FKBP9\|0.084789187\|54.25%
	View	552017_ngs_ex	7	.	33970334	0.0	C	T	PASS	1/1	58	None	None	None							None None	None None None None	BMPER\|0.520309229\|15%
	View	552017_ngs_ex	7	.	34153150	0.0	G	C	PASS	1/1	68	None	None	None							None None	None None None None	BMPER\|0.520309229\|15%
	View	552017_ngs_ex	7	.	34778501	0.0	A	T	PASS	0/1	72	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	34827570	0.0	C	T	PASS	0/1	90	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	34849570	0.0	A	G	PASS	0/1	86	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	34849610	0.0	T	C	PASS	0/1	94	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	34878090	0.0	G	A	PASS	0/1	130	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	34878128	0.0	C	A	PASS	0/1	126	None	None	None							None None	None None None None	NPSR1\|0.153358604\|42.47%
	View	552017_ngs_ex	7	.	35253582	0.0	A	G	PASS	0/1	109	None	None	None							None None	None None None None	TBX20\|0.800243381\|5.83%
	View	552017_ngs_ex	7	.	36513048	0.0	G	A	PASS	0/1	89	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	36616429	0.0	G	C	PASS	0/1	78	None	None	None							None None	None None None None	AOAH\|0.05743156\|60.58%
	View	552017_ngs_ex	7	.	36724067	0.0	C	T	sbF	0/1	63	None	None	None							None None	None None None None	AOAH\|0.05743156\|60.58%
	View	552017_ngs_ex	7	.	37885135	0.0	T	G	sbF	0/1	56	None	None	None							None None	None None None None	EPDR1\|0.032281464\|68.48%
	View	552017_ngs_ex	7	.	37894544	0.0	T	C	PASS	1/1	76	None	None	None							None None	None None None None	EPDR1\|0.032281464\|68.48%,NME8\|0.008591478\|82.05%
	View	552017_ngs_ex	7	.	37894545	0.0	A	T	PASS	1/1	76	None	None	None							None None	None None None None	EPDR1\|0.032281464\|68.48%,NME8\|0.008591478\|82.05%
	View	552017_ngs_ex	7	.	39339726	0.0	C	T	PASS	0/1	62	None	None	None							None None	None None None None	POU6F2\|0.980791853\|1.44%
	View	552017_ngs_ex	7	.	40274566	0.0	G	A	PASS	0/1	52	None	None	None							None None	None None None None	SUGCT\|0.747483152\|7.16%
	View	552017_ngs_ex	7	.	40860368	0.0	G	C	PASS	0/1	84	None	None	None							None None	None None None None	SUGCT\|0.747483152\|7.16%
	View	552017_ngs_ex	7	.	41965002	0.0	G	A	PASS	0/1	226	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	41966238	0.0	C	G	PASS	0/1	141	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	42040166	0.0	G	A	PASS	0/1	94	None	None	None							None None	None None None None	GLI3\|0.399227433\|20.82%
	View	552017_ngs_ex	7	.	42048623	0.0	T	C	PASS	0/1	67	None	None	None							None None	None None None None	GLI3\|0.399227433\|20.82%
	View	552017_ngs_ex	7	.	42048633	0.0	G	A	PASS	0/1	61	None	None	None							None None	None None None None	GLI3\|0.399227433\|20.82%
	View	552017_ngs_ex	7	.	43807004	0.0	A	G	sbF	0/1	65	None	None	None							None None	None None None None	BLVRA\|0.055967808\|60.91%
	View	552017_ngs_ex	7	.	45073571	0.0	G	A	PASS	0/1	128	None	None	None							None None	None None None None	CCM2\|0.292416184\|28.19%
	View	552017_ngs_ex	7	.	142868021	0.0	A	G	PASS	1/1	87	None	None	None							None None	None None None None	None
	View	552017_ngs_ex	7	.	44145489	0.0	G	A	sbF	0/1	57	None	None	None							None None	None None None None	AEBP1\|0.046717327\|63.68%
	View	552017_ngs_ex	7	.	44149794	0.0	G	A	sbF	0/1	101	None	None	None							None None	None None None None	AEBP1\|0.046717327\|63.68%
	View	552017_ngs_ex	7	.	44513639	0.0	A	G	PASS	0/1	56	None	None	None							None None	None None None None	NUDCD3\|0.076022189\|56.09%
	View	552017_ngs_ex	7	.	44515807	0.0	G	A	sbF	0/1	101	None	None	None							None None	None None None None	NUDCD3\|0.076022189\|56.09%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 7

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

C7orf60

DNAH11

HTR5A

MCM7

OR6V1

PKD1L1

RSPH10B

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed