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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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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, ANKRD30BL, C8orf12, CEP89, FAM230A, GBA3, MED28, METTL8, MROH5, NDUFS6, NLRP8, OAS2, OR11H7, OR12D1, PKD1L2, PNLIPRP2, PRIM2, PSPN, PTCHD3, RP11-507M3.1, RPS21, TAAR9, TAP2, TAS2R19, TGOLN2, TMEM120A, TSGA10IP,

+ Genes associated with diseases 4

Genes at Omim

ACTN3, ADH1C, NDUFS6, 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)
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: 29
Number of Genes: 28

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	combined sample_98.variant43	11	rs1815739 dbSNP Clinvar	66328095	271.98	T	C	PASS	0/1	102	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	combined sample_98.variant43	4	rs283413 dbSNP Clinvar	100268190	1081.15	A	C	PASS	1/1	51	STOP_LOST	HIGH	None	0.99281	0.99280	0.00839				None None	None None None None	None
ANKRD30BL
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	combined sample_98.variant43	2	rs142209162 dbSNP Clinvar	132905706	939.81	A	G	PASS	0/1	79	STOP_LOST	HIGH	None							None None	None None None None	ANKRD30BL\|0.00124875\|94.17%
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	combined sample_98.variant43	8	rs3021518 dbSNP Clinvar	11296049	2137.79	T	A	PASS	0/1	202	STOP_LOST	HIGH	None	0.07927	0.07927					None None	None None None None	FAM167A-AS1\|0.000825171\|96.52%,FAM167A\|0.032787665\|68.25%
CEP89
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	combined sample_98.variant43	19	rs745961 dbSNP Clinvar	33370070	1648.38	A	G	PASS	0/1	100	STOP_LOST	HIGH	None	0.16434	0.16430	0.27134				None None	None None None None	CEP89\|0.007695004\|82.86%
FAM230A
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	combined sample_98.variant43	22	rs12160675 dbSNP Clinvar	20710985	1274.45	A	C	PASS	0/1	114	STOP_LOST	HIGH	None	0.44908	0.44910					None None	None None None None	FAM230A\|0.000608157\|97.89%,USP41\|0.001419633\|93.25%
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	combined sample_98.variant43	4	rs358231 dbSNP Clinvar	22820504	630.1	A	T	PASS	1/1	71	STOP_LOST	HIGH	None	0.89157	0.89160	0.11608				None None	None None None None	None
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	combined sample_98.variant43	4	rs2315552 dbSNP Clinvar	17627294	5242.18	A	G	PASS	0/1	164	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	combined sample_98.variant43	2	rs10205459 dbSNP Clinvar	172180771	3975.95	A	G	PASS	1/1	82	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	combined sample_98.variant43	8	rs6578185 dbSNP Clinvar	142458053	2253.36	A	G	PASS	0/1	140	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	combined sample_98.variant43	5	rs4147773 dbSNP Clinvar	1814783	3095.71	T	C	PASS	1/1	113	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	combined sample_98.variant43	19	rs306457 dbSNP Clinvar	56499279	2199.83	G	C	PASS	0/1	201	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	combined sample_98.variant43	12	rs15895 dbSNP Clinvar	113448288	887.92	A	G	PASS	0/1	58	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	combined sample_98.variant43	14	rs1953558 dbSNP Clinvar	20698239	5914.7	T	C	PASS	1/1	168	STOP_LOST	HIGH	None	0.46426	0.46430					None None	None None None None	None
OR12D1
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	combined sample_98.variant43	6	rs1011985 dbSNP Clinvar	29385772	1810.42	G	C	PASS	0/1	117	STOP_LOST	HIGH	None	0.76837	0.76840					None None	None None None None	OR5V1\|0.002888171\|88.86%
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	combined sample_98.variant43	16	rs8054182 dbSNP Clinvar	81145807	5986.02	C	G	PASS	1/1	259	STOP_LOST	HIGH	None	0.83666	0.83670	0.08046				None None	None None None None	PKD1L2\|0.005531409\|85.17%
	View	combined sample_98.variant43	16	rs117006360 dbSNP Clinvar	81174978	830.97	A	G	PASS	1/1	82	STOP_LOST	HIGH	None	0.09724	0.09724	0.04922				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	combined sample_98.variant43	10	rs11544712 dbSNP Clinvar	118387282	7049.43	A	G	PASS	0/1	194	STOP_LOST	HIGH	None	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	combined sample_98.variant43	6	rs4535533 dbSNP Clinvar	57467100	4516.6	G	C	PASS	0/1	151	STOP_LOST	HIGH	None							None None	None None None None	PRIM2\|0.188824743\|37.96%
PSPN
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	combined sample_98.variant43	19	rs80336323 dbSNP Clinvar	6375368	1376.78	A	G	PASS	0/1	108	STOP_LOST	HIGH	None	0.02736	0.02736	0.03249				None None	None None None None	PSPN\|0.008194138\|82.48%
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	combined sample_98.variant43	10	rs2505323 dbSNP Clinvar	27687225	6922.71	A	G	PASS	0/1	168	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	combined sample_98.variant43	2	rs889830 dbSNP Clinvar	24395506	1247.37	T	C	PASS	1/1	27	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	combined sample_98.variant43	20	rs911077 dbSNP Clinvar	60963055	2681.07	T	C	PASS	1/1	297	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	combined sample_98.variant43	6	rs2842899 dbSNP Clinvar	132859609	3366.95	T	A	PASS	0/1	248	STOP_LOST	HIGH	None	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	combined sample_98.variant43	6	rs241448 dbSNP Clinvar	32796685	277.24	A	G	PASS	0/1	76	STOP_LOST	HIGH	None	0.31110	0.31110	0.18023				None None	None None None None	TAP2\|0.028431787\|70.24%
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	combined sample_98.variant43	12	rs79475879 dbSNP Clinvar	11174271	132.18	T	C	PASS	0/1	188	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	combined sample_98.variant43	2	rs4240199 dbSNP Clinvar	85549868	997.74	A	G	PASS	1/1	63	STOP_LOST	HIGH	None	0.77895	0.77900	0.33657	0.04	0.00		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	combined sample_98.variant43	7	rs4732519 dbSNP Clinvar	75621827	1398.61	A	G	PASS	1/1	69	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	combined sample_98.variant43	11	rs9795469 dbSNP Clinvar	65713207	3117.72	T	C	PASS	1/1	111	STOP_LOST	HIGH	None	0.99940	0.99940	0.00072				None None	None None None None	None