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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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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 4

Genes:
ALDH3A2, CCNB1IP1, RARRES2, TNS3,

+ Genes associated with diseases 1

Genes at Omim

ALDH3A2,

ALDH3A2	Sjogren-Larsson syndrome, 270200 (3)

Genes at Clinical Genomics Database

ALDH3A2,

ALDH3A2	Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 41
Number of Genes: 4

Export to: CSV

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ALDH3A2
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	wes_0001 hg19 bwa gatk freebayes combined	17	rs7216 dbSNP Clinvar	19578873	4356.77	A	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.67851	0.67850	0.44933				None None	None None None None	ALDH3A2\|0.089181599\|53.41%
CCNB1IP1
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	wes_0001 hg19 bwa gatk freebayes combined	14	rs1132644 dbSNP Clinvar	20784718	316.77	G	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.59565	0.59560	0.42880	0.06	0.00		None None	None None None None	CCNB1IP1\|0.349909331\|24.13%
RARRES2
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	wes_0001 hg19 bwa gatk freebayes combined	7	rs4721 dbSNP Clinvar	150035526	534.77	T	G	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.47863	0.47860		0.52	0.00		None None	None None None None	RARRES2\|0.012877384\|78.57%
TNS3
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	wes_0001 hg19 bwa gatk freebayes combined	7	rs11763044 dbSNP Clinvar	47481602	1551.77	G	A	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.34944	0.34940		0.04	0.23		None None	None None None None	TNS3\|0.04703279\|63.56%
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	wes_0001 hg19 bwa gatk freebayes combined	9	rs41312236 dbSNP Clinvar	95375468	1022.77	G	A	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.04613	0.04613	0.03768				None None	None None None None	CENPP\|0.015429847\|76.86%,IPPK\|0.084766771\|54.27%
	View	wes_0001 hg19 bwa gatk freebayes combined	11	rs1263505 dbSNP Clinvar	77811990	5320.77	T	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.83267	0.83270	0.11961				None None	None None None None	ALG8\|0.271828489\|29.77%
	View	wes_0001 hg19 bwa gatk freebayes combined	17	rs7214366 dbSNP Clinvar	16340316	664.77	A	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.27516	0.27520					None None	None None None None	TRPV2\|0.108548021\|49.45%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs3848623 dbSNP Clinvar	39522891	401.77	T	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.42752	0.42750					None None	None None None None	FBXO27\|0.001898899\|91.25%
	View	wes_0001 hg19 bwa gatk freebayes combined	1	.	155006328	339.77	T	C	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	DCST1\|0.042081714\|65.1%
	View	wes_0001 hg19 bwa gatk freebayes combined	20	rs6128402 dbSNP Clinvar	57266781	1145.77	C	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.29732	0.29730					None None	None None None None	NPEPL1\|0.075411836\|56.19%
	View	wes_0001 hg19 bwa gatk freebayes combined	5	rs2563298 dbSNP Clinvar	140011315	317.77	C	A	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.20807	0.20810					None None	None None None None	CD14\|0.027390775\|70.71%
	View	wes_0001 hg19 bwa gatk freebayes combined	1	rs4244184 dbSNP Clinvar	248486895	1281.77	G	T	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.82528	0.82530	0.22135				None None	None None None None	OR2M7\|0.001481196\|92.85%
	View	wes_0001 hg19 bwa gatk freebayes combined	3	rs9831075 dbSNP Clinvar	25836023	3566.77	C	T	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.74101	0.74100	0.23543				None None	None None None None	OXSM\|0.120851922\|47.31%
	View	wes_0001 hg19 bwa gatk freebayes combined	4	rs2070951 dbSNP Clinvar	149358014	1571.77	G	C	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.50080	0.50080	0.39743				None None	None None None None	NR3C2\|0.850524024\|4.63%
	View	wes_0001 hg19 bwa gatk freebayes combined	7	rs3857756 dbSNP Clinvar	5800769	1139.77	A	G	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.96486	0.96490					None None	None None None None	RNF216\|0.202241405\|36.49%
	View	wes_0001 hg19 bwa gatk freebayes combined	10	rs1459996 dbSNP Clinvar	61007534	2912.77	A	G	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.73522	0.73520	0.26865				None None	None None None None	PHYHIPL\|0.513316286\|15.23%,FAM13C\|0.181731447\|38.82%
	View	wes_0001 hg19 bwa gatk freebayes combined	11	rs2289921 dbSNP Clinvar	8496611	174.9	G	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.40276	0.40280					None None	None None None None	STK33\|0.074109929\|56.51%
	View	wes_0001 hg19 bwa gatk freebayes combined	11	rs3741245 dbSNP Clinvar	62105441	831.77	T	C	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.28255	0.28250	0.25620				None None	None None None None	ASRGL1\|0.018656675\|74.89%
	View	wes_0001 hg19 bwa gatk freebayes combined	17	rs9904043 dbSNP Clinvar	27000391	921.77	A	G	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.77197	0.77200	0.25665				None None	None None None None	SUPT6H\|0.667925783\|9.44%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs34081 dbSNP Clinvar	11531272	40.74	T	G	LowCoverage;LowQual	1/1	0	SPLICE_SITE_REGION	LOW	None	0.95687	0.95690					None None	None None None None	CCDC151\|0.006639685\|83.91%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs4806187 dbSNP Clinvar	36149761	102.28	A	G	LowCoverage	1/1	0	SPLICE_SITE_REGION	LOW	None	0.66514	0.66510					None None	None None None None	COX6B1\|0.289318881\|28.4%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs10425010 dbSNP Clinvar	36673198	223.8	G	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.07368	0.07368					None None	None None None None	ZNF565\|0.01802398\|75.27%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs2659093 dbSNP Clinvar	51456005	168.77	T	G	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.50280	0.50280					None None	None None None None	KLK5\|0.00235022\|90.05%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs143349422,rs60663083 dbSNP Clinvar	52115343	591.73	A	AT...	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.99002	0.99000					None None	None None None None	SIGLEC5\|0.000613659\|97.84%
	View	wes_0001 hg19 bwa gatk freebayes combined	22	rs737868 dbSNP Clinvar	19747082	1438.77	G	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.62141	0.62140					None None	None None None None	TBX1\|0.837458407\|4.92%
	View	wes_0001 hg19 bwa gatk freebayes combined	4	rs1757935 dbSNP Clinvar	130023759	4097.77	A	T	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.68271	0.68270	0.31301				None None	None None None None	C4orf33\|0.075968961\|56.1%
	View	wes_0001 hg19 bwa gatk freebayes combined	5	rs11351742,rs796654715 dbSNP Clinvar	109202858	17.93	GA	G	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	MAN2A1\|0.212087544\|35.34%
	View	wes_0001 hg19 bwa gatk freebayes combined	7	rs768292482,rs76171675 dbSNP Clinvar	94989255	119.73	CTT	C	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	PON1\|0.345425216\|24.46%
	View	wes_0001 hg19 bwa gatk freebayes combined	7	rs1269634 dbSNP Clinvar	107880612	518.77	A	G	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.45168	0.45170					None None	None None None None	NRCAM\|0.765632697\|6.74%
	View	wes_0001 hg19 bwa gatk freebayes combined	7	rs11975640 dbSNP Clinvar	123610348	1921.77	C	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.29892	0.29890	0.38683				None None	None None None None	SPAM1\|0.001851125\|91.41%
	View	wes_0001 hg19 bwa gatk freebayes combined	11	rs11219362 dbSNP Clinvar	123811344	564.77	C	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.19768	0.19770					None None	None None None None	OR4D5\|0.054444971\|61.36%
	View	wes_0001 hg19 bwa gatk freebayes combined	12	.	11174219	300.26	CCACG	ACACC	.	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R19\|0.000335865\|99.27%
	View	wes_0001 hg19 bwa gatk freebayes combined	12	rs79407997 dbSNP Clinvar	11174219	709.77	C	A	SnpCluster	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R19\|0.000335865\|99.27%
	View	wes_0001 hg19 bwa gatk freebayes combined	12	rs74363809 dbSNP Clinvar	11174223	700.77	G	C	SnpCluster	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R19\|0.000335865\|99.27%
	View	wes_0001 hg19 bwa gatk freebayes combined	14	rs698028 dbSNP Clinvar	62120575	557.77	C	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.51418	0.51420					None None	None None None None	None
	View	wes_0001 hg19 bwa gatk freebayes combined	15	rs1107179 dbSNP Clinvar	85198362	285.78	G	T	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.72664	0.72660					None None	None None None None	NMB\|0.018539893\|74.96%
	View	wes_0001 hg19 bwa gatk freebayes combined	17	rs11078672 dbSNP Clinvar	7215142	42.77	G	A	LowQual	0/1	0	SPLICE_SITE_REGION	LOW	None	0.17053	0.17050					None None	None None None None	EIF5A\|0.385576524\|21.7%,GPS2\|0.148381197\|43.24%
	View	wes_0001 hg19 bwa gatk freebayes combined	19	rs187452525 dbSNP Clinvar	49557533	2658.77	C	T	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None	0.00639	0.00639	0.01067				None None	None None None None	CGB7\|0.010694201\|80.38%
	View	wes_0001 hg19 bwa gatk freebayes combined	1	rs2473041 dbSNP Clinvar	12921762	96.77	A	C	PASS	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	PRAMEF2\|0.000895134\|96.05%
	View	wes_0001 hg19 bwa gatk freebayes combined	21	rs62220886 dbSNP Clinvar	46011149	40.77	T	C	LowQual	0/1	0	SPLICE_SITE_REGION	LOW	None							None None	None None None None	TSPEAR\|0.035753201\|67.21%,KRTAP10-6\|0.002193363\|90.43%
	View	wes_0001 hg19 bwa gatk freebayes combined	1	rs9326115 dbSNP Clinvar	75036783	6480.77	T	C	PASS	1/1	0	SPLICE_SITE_REGION	LOW	None	0.97504	0.97500	0.02768				None None	None None None None	ERICH3\|0.0119525\|79.27%

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FREQUENCIES

SCORES

+ Genes 4

+ Genes associated with diseases 1

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ALDH3A2

CCNB1IP1

RARRES2

TNS3

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