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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 8

Genes:
MT-ATP6, MT-CO1, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

MT-ATP6, MT-CO1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5,

MT-ATP6	Myopathy, lactic acidosis, and sideroblastic anemia 3
MT-CO1	Deafness, mitochondrial
MT-ND1	Deafness, mitochondrial
MT-ND2	Leber hereditary optic neuropathy Mitochondrial complex I deficiency
MT-ND3	Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND4	Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND5	Myoclonic epilepsy with ragged red fibers Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Leber hereditary optic neuropathy Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 30
Number of Genes: 8

Export to: CSV

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MT-ATP6
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	gordonsepilepsy normalized 2077	MT	rs2001031 dbSNP Clinvar	8860	5003.94	A	G	.	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.00		None None	None None None None	None
MT-CO1
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	gordonsepilepsy normalized 2077	MT	.	6602	189.2	C	T	.	0/1	10	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2015062 dbSNP Clinvar	7028	726.78	C	T	.	1/1	7	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
MT-CYB
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	gordonsepilepsy normalized 2077	MT	rs527236041,rs193302980 dbSNP Clinvar	14766	2033.15	C	T	.	1/1	20	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.00		None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs28357681 dbSNP Clinvar	14798	1846.7	T	C	.	0/1	14	NON_SYNONYMOUS_CODING	MODERATE	None				0.44	0.05		None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2853508 dbSNP Clinvar	15326	18047.7	A	G	.	1/1	24	NON_SYNONYMOUS_CODING	MODERATE	None				0.28	0.00		None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs527236209,rs193302994 dbSNP Clinvar	15452	1829.46	C	A	.	1/1	13	NON_SYNONYMOUS_CODING	MODERATE	None				0.51	0.38		None None	None None None None	None
MT-ND1
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	gordonsepilepsy normalized 2077	MT	rs1599988 dbSNP Clinvar	4216	902.17	T	C	.	1/1	6	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
MT-ND2
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	gordonsepilepsy normalized 2077	MT	rs3021086 dbSNP Clinvar	4769	5516.98	A	G	.	1/1	5	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	.	5198	1743.7	A	G	.	1/1	12	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
MT-ND3
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	gordonsepilepsy normalized 2077	MT	rs2853826 dbSNP Clinvar	10398	1007.65	A	G	.	1/1	6	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
MT-ND4
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	gordonsepilepsy normalized 2077	MT	rs869096886 dbSNP Clinvar	11251	1741.95	A	G	.	1/1	8	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2853495 dbSNP Clinvar	11719	1545.16	G	A	.	1/1	9	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
MT-ND5
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	gordonsepilepsy normalized 2077	MT	rs28359178 dbSNP Clinvar	13708	1363.7	G	A	.	1/1	12	NON_SYNONYMOUS_CODING	MODERATE	None				0.19	0.00		None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs28359172 dbSNP Clinvar	12612	1421.71	A	G	.	1/1	9	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
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	gordonsepilepsy normalized 2077	MT	rs147903261 dbSNP Clinvar	16069	1246.34	C	T	.	1/1	10	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	.	15916	1250.05	T	C	.	1/1	12	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs147029798 dbSNP Clinvar	16126	1472.38	T	C	.	1/1	8	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs369786048 dbSNP Clinvar	310	12341.7	T	TC	.	1/1	8	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs28412942 dbSNP Clinvar	408	1834.46	T	A	.	1/1	18	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs41402146 dbSNP Clinvar	462	2122.46	C	T	.	1/1	18	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2853518 dbSNP Clinvar	750	13810.7	A	G	.	1/1	11	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2001030 dbSNP Clinvar	1438	13042.7	A	G	.	1/1	11	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2854128 dbSNP Clinvar	2706	1529.18	A	G	.	1/1	9	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs3928306 dbSNP Clinvar	3010	8472.74	G	A	.	1/1	9	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs28625645 dbSNP Clinvar	489	2644.15	T	C	.	1/1	13	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs869183622 dbSNP Clinvar	73	13578.7	A	G	.	1/1	12	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs879015046 dbSNP Clinvar	185	1441.47	G	A	.	1/1	13	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs2853515 dbSNP Clinvar	263	13783.7	A	G	.	1/1	8	None	None	None							None None	None None None None	None
	View	gordonsepilepsy normalized 2077	MT	rs41528348 dbSNP Clinvar	295	1172.1	C	T	.	1/1	8	None	None	None							None None	None None None None	None

+ Filter Options

FREQUENCIES

SCORES

+ Genes 8

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

MT-ATP6

MT-CO1

MT-CYB

MT-ND1

MT-ND2

MT-ND3

MT-ND4

MT-ND5

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