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 6

Genes:
ATP2B2, CACNA1D, CCDC50, ILDR1, LARS2, MST1R,

+ Genes associated with diseases 6

Genes at Omim

ATP2B2, CACNA1D, CCDC50, ILDR1, LARS2, MST1R,

ATP2B2	{Deafness, autosomal recessive 12, modifier of}, 601386 (3)
CACNA1D	Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3) Sinoatrial node dysfunction and deafness, 614896 (3)
CCDC50	?Deafness, autosomal dominant 44, 607453 (3)
ILDR1	Deafness, autosomal recessive 42, 609646 (3)
LARS2	Perrault syndrome 4, 615300 (3) ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
MST1R	{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)

Genes at Clinical Genomics Database

CACNA1D, CCDC50, ILDR1, LARS2,

CACNA1D	Primary aldosteronism, seizures, and neurologic abnormalities Sinoatrial node dysfunction and deafness
CCDC50	Deafness, autosomal dominant 44
ILDR1	Deafness, autosomal recessive 42
LARS2	Perrault syndrome 4

Genes at HGMD

Summary

Number of Variants: 132
Number of Genes: 6

Export to: CSV

Page 1 of 2
next

Page 1 of 2
next

ATP2B2
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	traning-sample-vcf-file	3	rs2289274 dbSNP Clinvar	10413715	2452.77	G	A	.	0/1	228	SYNONYMOUS_CODING	LOW	None	0.27696	0.27700	0.25788				None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs35678 dbSNP Clinvar	10379923	7895.77	C	T	.	1/1	249	SYNONYMOUS_CODING	LOW	None	0.56789	0.56790	0.45633				None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs751122 dbSNP Clinvar	10420087	3089.77	T	C	.	0/1	249	SYNONYMOUS_CODING	LOW	None	0.49321	0.49320	0.36099				None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs13084776 dbSNP Clinvar	10443827	2586.77	G	C	.	0/1	250	SYNONYMOUS_CODING	LOW	None	0.16933	0.16930	0.18684				None None	None None None None	ATP2B2\|0.393540983\|21.16%
CACNA1D
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	traning-sample-vcf-file	3	rs2250736 dbSNP Clinvar	53700550	3315.77	T	C	.	0/1	250	SYNONYMOUS_CODING	LOW	None	0.70647	0.70650	0.35253				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs1045958 dbSNP Clinvar	53769479	3410.77	C	T	.	0/1	249	SYNONYMOUS_CODING	LOW	None	0.19229	0.19230	0.25450				None None	None None None None	CACNA1D\|0.678487804\|9.14%
CCDC50
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	traning-sample-vcf-file	3	rs2028572 dbSNP Clinvar	191093053	2813.77	T	C	.	0/1	246	SYNONYMOUS_CODING	LOW	None	0.50200	0.50200	0.48893				None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs11542549 dbSNP Clinvar	191075902	5665.77	C	T	.	1/1	207	SYNONYMOUS_CODING	LOW	None	0.26737	0.26740	0.29656				None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs293813 dbSNP Clinvar	191097966	1579.77	T	C	.	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	None	0.64457	0.64460	0.42742	0.79	0.00		None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs4677728 dbSNP Clinvar	191093310	2962.77	A	G	.	0/1	219	NON_SYNONYMOUS_CODING	MODERATE	None	0.50220	0.50220	0.48839	0.82	0.03		None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs2028574 dbSNP Clinvar	191093175	3365.77	T	A	.	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	None	0.50160	0.50160	0.48893	0.36	0.00		None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs364519 dbSNP Clinvar	191100561	2758.77	C	A	.	0/1	250	SYNONYMOUS_CODING	LOW	None	0.64497	0.64500	0.42765				None None	None None None None	CCDC50\|0.127287096\|46.29%
ILDR1
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	traning-sample-vcf-file	3	rs3915061 dbSNP Clinvar	121712805	2723.77	G	C	.	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	None	0.35204	0.35200	0.30855	1.00	0.00		None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	rs2877561 dbSNP Clinvar	121712051	3826.77	A	C	.	0/1	250	SYNONYMOUS_CODING	LOW	None	0.78494	0.78490	0.25219				None None	None None None None	ILDR1\|0.070497069\|57.37%
LARS2
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	traning-sample-vcf-file	3	rs2170549 dbSNP Clinvar	45559519	6787.77	T	C	.	1/1	250	SYNONYMOUS_CODING	LOW	None	0.84944	0.84940	0.14855				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs2128361 dbSNP Clinvar	45533224	7248.77	G	A	.	1/1	250	SYNONYMOUS_CODING	LOW	None	0.78275	0.78270	0.22574				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs7610357 dbSNP Clinvar	45527218	7896.77	T	C	.	1/1	250	SYNONYMOUS_CODING	LOW	None	0.78295	0.78290	0.22582				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs141607519 dbSNP Clinvar	45436102	3598.77	T	C	.	0/1	250	SYNONYMOUS_CODING	LOW	None	0.00639	0.00639	0.00100				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs267220 dbSNP Clinvar	45565554	8151.77	A	G	.	1/1	250	SYNONYMOUS_CODING	LOW	None	0.86082	0.86080	0.13132				None None	None None None None	LARS2\|0.092014629\|52.81%
MST1R
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	traning-sample-vcf-file	3	rs7433231 dbSNP Clinvar	49928691	7382.77	T	C	.	1/1	248	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	MST1R\|0.040225274\|65.7%
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	traning-sample-vcf-file	3	rs4677729 dbSNP Clinvar	191093384	1178.77	A	G	.	0/1	89	None	None	None	0.50160	0.50160	0.48346				None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs73185226 dbSNP Clinvar	191087994	1354.77	T	C	.	0/1	108	None	None	None	0.11542	0.11540					None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs13434281 dbSNP Clinvar	191075656	492.77	G	A	.	0/1	63	None	None	None	0.13498	0.13500					None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs1520203 dbSNP Clinvar	191075012	2155.77	G	T	.	1/1	78	None	None	None	0.33167	0.33170					None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs188384 dbSNP Clinvar	191074873	5783.77	C	G	.	1/1	225	None	None	None	0.77097	0.77100	0.37706				None None	None None None None	CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs9847278 dbSNP Clinvar	191047532	4843.77	A	G	.	1/1	185	None	None	None	0.77676	0.77680	0.36501				None None	None None None None	UTS2B\|0.007089836\|83.4%,CCDC50\|0.127287096\|46.29%
	View	traning-sample-vcf-file	3	rs6779820 dbSNP Clinvar	191046793	999.77	G	C	.	0/1	102	None	None	None	0.63119	0.63120					None None	None None None None	UTS2B\|0.007089836\|83.4%
	View	traning-sample-vcf-file	3	rs4687210 dbSNP Clinvar	191046770	999.77	G	A	.	0/1	67	None	None	None	0.10903	0.10900					None None	None None None None	UTS2B\|0.007089836\|83.4%
	View	traning-sample-vcf-file	3	rs6806039 dbSNP Clinvar	150663450	7236.77	T	C	.	1/1	243	None	None	None	0.89477	0.89480					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs6801898 dbSNP Clinvar	150661495	28.77	T	C	LowQual	0/1	9	None	None	None	0.51338	0.51340					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs570356810 dbSNP Clinvar	150645448	1293.77	T	C	.	0/1	173	None	None	None	0.03215	0.03215					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs1456138 dbSNP Clinvar	150645408	2884.77	G	A	.	1/1	100	None	None	None	0.77676	0.77680					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs4680058 dbSNP Clinvar	150645351	2666.77	G	A	.	1/1	100	None	None	None	0.77776	0.77780					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs3796239 dbSNP Clinvar	150644247	6716.77	C	T	.	1/1	242	None	None	None	0.64078	0.64080					None None	None None None None	CLRN1\|0.152112219\|42.65%
	View	traning-sample-vcf-file	3	rs11924058 dbSNP Clinvar	121725703	413.77	A	G	.	1/1	11	None	None	None	0.77436	0.77440					None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	.	121724056	11.12	A	C	LowQual	0/1	118	None	None	None							None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	rs3942629 dbSNP Clinvar	121724038	1368.77	G	A	.	0/1	103	None	None	None	0.14637	0.14640					None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	rs62269207 dbSNP Clinvar	121720494	551.77	C	T	.	0/1	58	None	None	None	0.23822	0.23820					None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	rs3915060 dbSNP Clinvar	121712980	1528.77	C	T	.	0/1	162	None	None	None	0.78335	0.78330					None None	None None None None	ILDR1\|0.070497069\|57.37%
	View	traning-sample-vcf-file	3	rs12491991 dbSNP Clinvar	121706021	829.77	C	A	.	0/1	83	None	None	None	0.17772	0.17770					None None	None None None None	None
	View	traning-sample-vcf-file	3	rs704246 dbSNP Clinvar	70016904	2598.77	C	T	.	0/1	250	None	None	None	0.29533	0.29530					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs576 dbSNP Clinvar	70016467	3402.77	C	T	.	0/1	249	None	None	None	0.34105	0.34110					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	.	69988437	17.84	G	T	LowQual	0/1	18	None	None	None							None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs1367371 dbSNP Clinvar	69887699	2455.77	C	A	.	0/1	250	None	None	None	0.34505	0.34500					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs2217456 dbSNP Clinvar	69887578	260.77	A	G	.	0/1	25	None	None	None	0.34505	0.34500					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs76158281 dbSNP Clinvar	69813174	2130.77	C	T	.	0/1	190	None	None	None	0.01078	0.01078					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs62250968 dbSNP Clinvar	69811900	3204.83	C	T	.	0/1	250	None	None	None	0.20927	0.20930					None None	None None None None	MITF\|0.992540471\|0.98%
	View	traning-sample-vcf-file	3	rs881883 dbSNP Clinvar	53847805	1541.77	A	G	.	0/1	147	None	None	None	0.41633	0.41630					None None	None None None None	CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs893362 dbSNP Clinvar	53847794	5602.77	C	T	.	1/1	203	None	None	None	0.85703	0.85700					None None	None None None None	CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs14165 dbSNP Clinvar	53847408	7517.77	A	G	.	1/1	250	None	None	None	0.87041	0.87040					None None	None None None None	CACNA1D\|0.678487804\|9.14%,CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs893363 dbSNP Clinvar	53847062	7338.77	G	A	.	1/1	249	None	None	None	0.63838	0.63840					None None	None None None None	CACNA1D\|0.678487804\|9.14%,CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs877484 dbSNP Clinvar	53846924	3969.77	A	G	.	0/1	250	None	None	None	0.47264	0.47260					None None	None None None None	CACNA1D\|0.678487804\|9.14%,CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs877483 dbSNP Clinvar	53846741	2974.77	T	C	.	0/1	250	None	None	None	0.67652	0.67650					None None	None None None None	CACNA1D\|0.678487804\|9.14%,CHDH\|0.021054975\|73.66%
	View	traning-sample-vcf-file	3	rs56322106 dbSNP Clinvar	53845918	3559.77	C	A	.	0/1	250	None	None	None	0.11741	0.11740					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	.	53820753	7.6	A	C	LowQual	0/1	41	None	None	None							None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	.	53820748	97.77	G	C	.	0/1	36	None	None	None							None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs1829423 dbSNP Clinvar	53814197	2912.77	G	A	.	0/1	249	None	None	None	0.55032	0.55030	0.33062				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs35146621 dbSNP Clinvar	53806817	3082.77	G	A	.	0/1	250	None	None	None	0.15415	0.15420	0.20375				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2278517 dbSNP Clinvar	53806803	2874.77	G	C	.	0/1	203	None	None	None	0.54593	0.54590					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs3774568 dbSNP Clinvar	53796806	548.77	T	A	.	0/1	51	None	None	None	0.37061	0.37060					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs148262035 dbSNP Clinvar	53787818	3295.77	T	C	.	0/1	223	None	None	None	0.01398	0.01398					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2612024 dbSNP Clinvar	53779580	6927.77	G	C	.	1/1	242	None	None	None	0.80232	0.80230					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2253795 dbSNP Clinvar	53778875	3038.77	G	T	.	0/1	248	None	None	None	0.14257	0.14260	0.18307				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2304577 dbSNP Clinvar	53778621	526.77	G	A	.	0/1	51	None	None	None	0.30791	0.30790					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2680648 dbSNP Clinvar	53777176	3770.77	T	C	.	0/1	241	None	None	None	0.18211	0.18210	0.18676				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2612026 dbSNP Clinvar	53776995	8511.77	T	C	.	1/1	249	None	None	None	0.80292	0.80290	0.24696				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2577328 dbSNP Clinvar	53776872	666.77	T	G	.	1/1	17	None	None	None	0.80312	0.80310					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2306866 dbSNP Clinvar	53766212	2490.77	A	T	.	1/1	79	None	None	None	0.66633	0.66630					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2612033 dbSNP Clinvar	53766026	7156.77	T	C	.	1/1	250	None	None	None	0.91094	0.91090	0.13294				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs2070617 dbSNP Clinvar	53758049	3200.06	G	A	.	0/1	239	None	None	None	0.28255	0.28250	0.13525				None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs3774546 dbSNP Clinvar	53744327	1448.77	C	G	.	0/1	97	None	None	None	0.20547	0.20550					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs74283910 dbSNP Clinvar	53712945	2951.77	G	T	.	0/1	250	None	None	None	0.07967	0.07967					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs6809164 dbSNP Clinvar	53712910	3813.77	T	G	.	0/1	250	None	None	None	0.24840	0.24840					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs78742538 dbSNP Clinvar	53708086	3377.77	T	C	.	0/1	247	None	None	None	0.05012	0.05012					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs34646859 dbSNP Clinvar	53700304	1812.77	G	A	.	0/1	152	None	None	None	0.12720	0.12720					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs312480 dbSNP Clinvar	53529140	4992.77	T	C	.	1/1	182	None	None	None	0.85943	0.85940					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs312479 dbSNP Clinvar	53529013	1445.77	T	A	.	1/1	65	None	None	None	0.96306	0.96310					None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs1040037751 dbSNP Clinvar	53528902	3.98	A	G	LowQual	0/1	5	None	None	None							None None	None None None None	CACNA1D\|0.678487804\|9.14%
	View	traning-sample-vcf-file	3	rs11130106 dbSNP Clinvar	46750553	2102.77	G	A	.	0/1	173	None	None	None	0.36841	0.36840					None None	None None None None	TMIE\|0.142194222\|44.12%
	View	traning-sample-vcf-file	3	rs7635402 dbSNP Clinvar	46747255	2832.77	C	T	.	0/1	250	None	None	None	0.11502	0.11500	0.06582				None None	None None None None	TMIE\|0.142194222\|44.12%
	View	traning-sample-vcf-file	3	rs7649081 dbSNP Clinvar	46747192	3035.77	T	G	.	0/1	248	None	None	None	0.22384	0.22380					None None	None None None None	TMIE\|0.142194222\|44.12%
	View	traning-sample-vcf-file	3	rs7430680 dbSNP Clinvar	46742749	492.77	A	T	.	0/1	44	None	None	None	0.18590	0.18590					None None	None None None None	None
	View	traning-sample-vcf-file	3	rs267267 dbSNP Clinvar	45589702	7460.77	T	C	.	1/1	250	None	None	None	0.88658	0.88660					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs267266 dbSNP Clinvar	45589411	7608.77	A	G	.	1/1	249	None	None	None	0.86022	0.86020					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs2306522 dbSNP Clinvar	45542083	8315.77	T	C	.	1/1	250	None	None	None	0.50340	0.50340	0.47617				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs181665720 dbSNP Clinvar	45537908	3332.77	G	A	.	0/1	249	None	None	None	0.00779	0.00779	0.00115				None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs3733116 dbSNP Clinvar	45530401	3396.77	G	A	.	1/1	119	None	None	None	0.50320	0.50320					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs7640603 dbSNP Clinvar	45527099	4322.77	C	G	.	1/1	137	None	None	None	0.86482	0.86480					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs11919039 dbSNP Clinvar	45515648	2927.77	T	C	.	1/1	91	None	None	None	0.50359	0.50360					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs745551 dbSNP Clinvar	45500174	3606.77	C	A	.	1/1	140	None	None	None	0.86242	0.86240					None None	None None None None	LARS2\|0.092014629\|52.81%
	View	traning-sample-vcf-file	3	rs7631466 dbSNP Clinvar	10749644	2541.77	C	T	.	1/1	98	None	None	None	0.84585	0.84580					None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs1051105045 dbSNP Clinvar	10547474	28.99	T	G	LowQual	0/1	4	None	None	None							None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	.	10547472	52.81	A	G,T	.	1/2	4	None	None	None							None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	.	10547470	39.74	A	G	LowQual	1/1	2	None	None	None							None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs902617124 dbSNP Clinvar	10547408	26.78	C	G	LowQual	0/1	13	None	None	None							None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs1043791618 dbSNP Clinvar	10547402	15.88	T	G	LowQual	0/1	16	None	None	None							None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs34907 dbSNP Clinvar	10452231	510.77	G	A	.	0/1	55	None	None	None	0.56090	0.56090					None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs7616000 dbSNP Clinvar	10421107	1910.77	A	G	.	0/1	127	None	None	None	0.36262	0.36260					None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs4684686 dbSNP Clinvar	10420875	2225.77	G	A	.	0/1	199	None	None	None	0.41034	0.41030	0.29631				None None	None None None None	ATP2B2\|0.393540983\|21.16%
	View	traning-sample-vcf-file	3	rs56113011 dbSNP Clinvar	10419856	1081.77	C	G	.	0/1	85	None	None	None	0.22304	0.22300					None None	None None None None	ATP2B2\|0.393540983\|21.16%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 6

+ Genes associated with diseases 6

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ATP2B2

CACNA1D

CCDC50

ILDR1

LARS2

MST1R

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed