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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 13

Genes:
CGB5, CGB7, DUX4L4, FLG, FOXD4L5, GSTT2B, MUC4, NBPF24, PLGLB1, SPATA31A3, SPATA31A4, SPATA31A6, TPSB2,

+ Genes associated with diseases 1

Genes at Omim

FLG,

FLG	Ichthyosis vulgaris, 146700 (3) {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)

Genes at Clinical Genomics Database

FLG,

FLG	Icthyosis vulgaris

Genes at HGMD

Summary

Number of Variants: 40
Number of Genes: 13

Export to: CSV

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CGB5
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	15ac02303_s1 genome	19	rs62126048 dbSNP Clinvar	49547890	748.18	G	A	LowMQ	0/1	280	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CGB1\|0.00401329\|87.01%,CGB5\|0.009664781\|81.1%
CGB7
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	15ac02303_s1 genome	19	rs541205476 dbSNP Clinvar	49557766	1031.48	G	A	LowMQ	0/1	345	NON_SYNONYMOUS_CODING	MODERATE	None	0.01478	0.01478		0.00	0.93		None None	None None None None	CGB7\|0.010694201\|80.38%
DUX4L4
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	15ac02303_s1 genome	4	rs77213040 dbSNP Clinvar	191003289	1718.28	C	G	LowMQ	0/1	396	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	15ac02303_s1 genome	4	rs371877388 dbSNP Clinvar	191003112	669.6	C	T	LowMQ	1/1	176	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	15ac02303_s1 genome	4	rs782484580 dbSNP Clinvar	191003123	655.09	C	G	LowMQ	0/1	178	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	15ac02303_s1 genome	4	rs74414282 dbSNP Clinvar	191003151	1285.39	G	A	LowMQ	1/1	204	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	15ac02303_s1 genome	4	rs76996797 dbSNP Clinvar	191003163	1344.38	G	T	LowMQ	0/1	214	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
FLG
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	15ac02303_s1 genome	1	rs192116923 dbSNP Clinvar	152279406	1012.16	T	G	LowMQ	1/1	168	NON_SYNONYMOUS_CODING	MODERATE	None	0.19269	0.19270	0.19199		0.67		None None	None None None None	FLG\|0.000223203\|99.71%
FOXD4L5
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	15ac02303_s1 genome	9	rs2921291 dbSNP Clinvar	70177822	843.47	T	C	LowMQ	1/1	83	SYNONYMOUS_CODING	LOW	None	0.82748	0.82750					None None	None None None None	FOXD4L5\|0.001233365\|94.27%
GSTT2B
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	15ac02303_s1 genome	22	rs2227965 dbSNP Clinvar	24300634	1605.47	G	T	LowMQ	1/1	274	SYNONYMOUS_CODING	LOW	None	0.85024	0.85020					None None	None None None None	GSTT2B\|0.001863137\|91.37%
MUC4
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	15ac02303_s1 genome	3	rs200885409 dbSNP Clinvar	195507036	290.43	C	G	LowMQ	0/1	144	NON_SYNONYMOUS_CODING	MODERATE	None	0.15236	0.15240			0.00		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	15ac02303_s1 genome	3	rs78227722 dbSNP Clinvar	195511446	434.32	C	G	LowMQ	0/1	150	SYNONYMOUS_CODING	LOW	None	0.22404	0.22400					None None	None None None None	MUC4\|0.005441696\|85.29%
NBPF24
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	15ac02303_s1 genome	1	rs200802363 dbSNP Clinvar	147597237	125.14	G	A	LowMQ	0/1	48	STOP_GAINED	HIGH	None	0.05431	0.05431					None None	None None None None	None
PLGLB1
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	15ac02303_s1 genome	2	rs199986885 dbSNP Clinvar	87243501	850.4	T	C	LowMQ	1/1	168	SYNONYMOUS_CODING	LOW	None	0.33307	0.33310					None None	None None None None	PLGLB1\|0.0021622\|90.56%
SPATA31A3
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	15ac02303_s1 genome	9	rs200314502 dbSNP Clinvar	40705193	732.09	G	C	LowMQ	0/1	204	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	0.95		None None	None None None None	SPATA31A3\|0.000379004\|99.1%
	View	15ac02303_s1 genome	9	rs202084999 dbSNP Clinvar	40706047	321.89	A	G	LowMQ	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.01518	0.01518		0.02	0.10		None None	None None None None	SPATA31A3\|0.000379004\|99.1%
SPATA31A4
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	15ac02303_s1 genome	9	rs202207548 dbSNP Clinvar	41323469	402.15	C	T	LowMQ	0/1	153	NON_SYNONYMOUS_CODING	MODERATE	None				0.74	0.98		None None	None None None None	None
	View	15ac02303_s1 genome	9	rs199889036 dbSNP Clinvar	41323425	691.49	G	A	LowMQ	0/1	182	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.00		None None	None None None None	None
SPATA31A6
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	15ac02303_s1 genome	9	rs2491539 dbSNP Clinvar	43626759	425.11	G	A	LowMQ	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.31290	0.31290		0.18	0.00		None None	None None None None	SPATA31A6\|0.000614954\|97.83%
TPSB2
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	15ac02303_s1 genome	16	rs201725275 dbSNP Clinvar	1278767	479.14	C	T	LowMQ	0/1	214	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	TPSB2\|0.001260709\|94.09%
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	15ac02303_s1 genome	15	rs140849415 dbSNP Clinvar	20651211	493.88	C	T	LowMQ	0/1	216	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	15	rs201666330 dbSNP Clinvar	20642621	1129.37	G	C	LowMQ	0/1	300	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	15	rs200310541 dbSNP Clinvar	20651205	498.04	A	G	LowMQ	0/1	219	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	1	.	13656	896.42	CAG	C	LowMQ	0/1	31	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	9	rs201637043 dbSNP Clinvar	34834109	753.54	T	C	LowMQ	0/1	115	None	None	None	0.32328	0.32330					None None	None None None None	None
	View	15ac02303_s1 genome	1	.	13657	63.02	A	.	LowMQ	0	49	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	1	.	13658	63.02	G	.	LowMQ	0	49	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	3	rs200828293 dbSNP Clinvar	195704020	386.65	A	G	LowMQ	0/1	82	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	7	rs368231459 dbSNP Clinvar	74193366	440.09	A	C	LowMQ	0/1	82	None	None	None	0.62021	0.62020					None None	None None None None	NCF1\|0.034781394\|67.53%
	View	15ac02303_s1 genome	7	rs782181781 dbSNP Clinvar	74582543	495.61	T	G	LowMQ	0/1	188	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	10	rs138826890 dbSNP Clinvar	135490942	3493.31	C	A	LowMQ	1/1	836	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	10	rs142925856 dbSNP Clinvar	135490947	4703.95	G	A	LowMQ	1/1	897	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	10	rs77256597 dbSNP Clinvar	135491030	21384.92	G	C	LowMQ	0/1	2550	None	None	None	0.41793	0.41790					None None	None None None None	None
	View	15ac02303_s1 genome	10	rs141995823 dbSNP Clinvar	135491204	2623.99	C	G	LowMQ	1/1	457	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	16	rs753424076 dbSNP Clinvar	18441113	212.9	TCAC	T	LowMQ	0/1	15	None	None	None							None None	None None None None	NPIPA8\|0.001662822\|92.03%
	View	15ac02303_s1 genome	12	rs4562875 dbSNP Clinvar	9451897	234.23	A	C	LowMQ	0/1	64	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	12	rs4623955 dbSNP Clinvar	9451947	164.58	C	T	LowMQ	0/1	48	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	16	rs79241300 dbSNP Clinvar	55807448	746.61	C	T	LowMQ	1/1	131	None	None	None	0.64736	0.64740					None None	None None None None	None
	View	15ac02303_s1 genome	16	rs28444662 dbSNP Clinvar	55807461	573.72	C	A	LowMQ	1/1	114	None	None	None	0.64736	0.64740					None None	None None None None	None
	View	15ac02303_s1 genome	17	.	18330624	447.38	C	T	LowMQ	0/1	167	None	None	None							None None	None None None None	None

+ Filter Options

FREQUENCIES

SCORES

+ Genes 13

+ Genes associated with diseases 1

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

CGB5

CGB7

DUX4L4

FLG

FOXD4L5

GSTT2B

MUC4

NBPF24

PLGLB1

SPATA31A3

SPATA31A4

SPATA31A6

TPSB2

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

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