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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:
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OMIM:
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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:
ACTN3, ADH1C, GBA3, LEPREL2, MED28, METTL8, MROH5, NDUFS6, NLRP8, OAS2, OR11H7, OR13C7P, OR52E8, PKD1L2, POM121L7, PRIM2, PSG7, PTCHD3, RP11-507M3.1, RPS21, TAAR9, TAS2R19, TGOLN2, TMEM120A, TSGA10IP,

+ Genes associated with diseases 3

Genes at Omim

ACTN3, ADH1C, NDUFS6,

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)

Genes at Clinical Genomics Database

NDUFS6,

NDUFS6	Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 25

Export to: CSV

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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	snps raw MG15-002	11	rs1815739 dbSNP Clinvar	66328095	1674.9	T	C	.	0/1	66	STOP_LOST	HIGH	None	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	snps raw MG15-002	4	rs283413 dbSNP Clinvar	100268190	868.91	A	C	.	1/1	22	STOP_LOST	HIGH	None	0.99281	0.99280	0.00839				None None	None None None None	None
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	snps raw MG15-002	4	rs358231 dbSNP Clinvar	22820504	4667.35	A	T	.	1/1	40	STOP_LOST	HIGH	None	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	snps raw MG15-002	12	rs1129649 dbSNP Clinvar	6948468	1120.9	T	C	.	0/1	40	STOP_LOST	HIGH	None	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	snps raw MG15-002	4	rs2315552 dbSNP Clinvar	17627294	5526.35	A	G	.	1/1	40	STOP_LOST	HIGH	None	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	snps raw MG15-002	2	rs10205459 dbSNP Clinvar	172180771	3694.35	A	G	.	1/1	31	STOP_LOST	HIGH	None	0.99820	0.99820	0.00241				None None	None None None None	METTL8\|0.246340052\|31.91%
MROH5
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	snps raw MG15-002	8	rs6578185 dbSNP Clinvar	142458053	5372.9	A	G	.	0/1	79	STOP_LOST	HIGH	None	0.34645	0.34640	0.40823				None None	None None None None	MROH5\|0.004135597\|86.82%
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	snps raw MG15-002	5	rs4147773 dbSNP Clinvar	1814783	3316.36	T	C	.	1/1	38	STOP_LOST	HIGH	None	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	snps raw MG15-002	19	rs306457 dbSNP Clinvar	56499279	8181.35	G	C	.	1/1	77	STOP_LOST	HIGH	None	0.72464	0.72460	0.26672				None None	None None None None	NLRP8\|0.000383915\|99.05%
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	snps raw MG15-002	12	rs15895 dbSNP Clinvar	113448288	1791.37	A	G	.	1/1	18	STOP_LOST	HIGH	None	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	snps raw MG15-002	14	rs1953558 dbSNP Clinvar	20698239	452.33	T	C	.	0/1	55	STOP_LOST	HIGH	None	0.46426	0.46430					None None	None None None None	None
OR13C7P
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	snps raw MG15-002	9	rs10972682 dbSNP Clinvar	36002929	140.34	T	C	.	0/1	20	STOP_LOST	HIGH	None	0.17951	0.17950					None None	None None None None	None
OR52E8
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	snps raw MG15-002	11	rs12419602 dbSNP Clinvar	5877979	3008.42	T	A	.	0/1	54	STOP_LOST	HIGH	None	0.37480	0.37480	0.41063				None None	None None None None	TRIM5\|0.00243037\|89.82%,OR52E8\|0.008250943\|82.4%
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	snps raw MG15-002	16	rs8054182 dbSNP Clinvar	81145807	14173.3	C	G	.	1/1	119	STOP_LOST	HIGH	None	0.83666	0.83670	0.08046				None None	None None None None	PKD1L2\|0.005531409\|85.17%
POM121L7
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	snps raw MG15-002	22	rs377225019 dbSNP Clinvar	21480538	18.59	C	G	LowQual	1/1	92	STOP_LOST	HIGH	None							None None	None None None None	POM121L7\|0.001507574\|92.73%
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	snps raw MG15-002	6	rs4535533 dbSNP Clinvar	57467100	5450.94	G	C	.	0/1	79	STOP_LOST	HIGH	None							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	snps raw MG15-002	19	rs113247044 dbSNP Clinvar	43439694	1014.9	A	G	.	0/1	123	STOP_LOST	HIGH	None	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	snps raw MG15-002	10	rs2505323 dbSNP Clinvar	27687225	1185.9	A	G	.	0/1	26	STOP_LOST	HIGH	None	0.55012	0.55010	0.36821				None None	None None None None	PTCHD3\|0.001856639\|91.39%
RP11-507M3.1
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	snps raw MG15-002	2	rs889830 dbSNP Clinvar	24395506	1177.66	T	C	.	1/1	11	STOP_LOST	HIGH	None	0.81350	0.81350					None None	None None None None	None
RPS21
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	snps raw MG15-002	20	rs911077 dbSNP Clinvar	60963055	4321.88	T	C	.	1/1	104	STOP_LOST	HIGH	None	0.12640	0.12640					None None	None None None None	RPS21\|0.080763432\|55.01%
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	snps raw MG15-002	6	rs2842899 dbSNP Clinvar	132859609	6021.94	T	A	.	0/1	147	STOP_LOST	HIGH	None	0.80571	0.80570	0.23857				None None	None None None None	None
TAS2R19
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	snps raw MG15-002	12	rs79475879 dbSNP Clinvar	11174271	39.32	T	C	LowQual	0/1	47	STOP_LOST	HIGH	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R19\|0.000335865\|99.27%
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	snps raw MG15-002	2	rs4240199 dbSNP Clinvar	85549868	3307.33	A	G	.	0/1	25	STOP_LOST	HIGH	None	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	snps raw MG15-002	7	rs4732519 dbSNP Clinvar	75621827	6479.35	A	G	.	1/1	60	STOP_LOST	HIGH	None	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	snps raw MG15-002	11	rs9795469 dbSNP Clinvar	65713207	11598.3	T	C	.	1/1	109	STOP_LOST	HIGH	None	0.99940	0.99940	0.00072				None None	None None None None	None

+ Filter Options

FREQUENCIES

SCORES

+ Genes 25

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ACTN3

ADH1C

GBA3

LEPREL2

MED28

METTL8

MROH5

NDUFS6

NLRP8

OAS2

OR11H7

OR13C7P

OR52E8

PKD1L2

POM121L7

PRIM2

PSG7

PTCHD3

RP11-507M3.1

RPS21

TAAR9

TAS2R19

TGOLN2

TMEM120A

TSGA10IP

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