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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:
AAK1, ADM2, ALLC, ALPK2, ANKRD31, ANP32E, ATF7IP2, BAIAP2L2, BBX, C16orf96, C22orf43, CLCA4, CREB3L2, CTSA, DEFB132, DMKN, FAM174B, FNDC1, GFM2, GIGYF2, HOMEZ, ITGB5, KCNA7, KISS1, KLF17, KLRF1, KRTAP1-1, KRTAP10-10, LRRC49, MAN2A1, MAP3K4, MEOX2, MOG, MSH3, NCOA3, NRD1, NUMBL, OR14A16, OR5H6, OTOP1, PRRC2A, PRUNE2, RBM47, RIN3, SIRPA, SLC22A1, SLC39A14, SPATA3, SPTY2D1, TFDP2, TMEM121, TMEM52, TRIOBP, UBAC1, URI1, VEGFC, YEATS2, ZCCHC3, ZNF2, ZNF408,

+ Genes associated with diseases 9

Genes at Omim

CTSA, GIGYF2, KISS1, MOG, MSH3, SLC39A14, TRIOBP, VEGFC, ZNF408,

CTSA	Galactosialidosis, 256540 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
KISS1	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
MOG	?Narcolepsy 7, 614250 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
SLC39A14	Hypermanganesemia with dystonia 2, 617013 (3) ?Hyperostosis cranalis interna, 144755 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)
ZNF408	Retinitis pigmentosa 72, 616469 (3) ?Exudative vitreoretinopathy 6, 616468 (3)

Genes at Clinical Genomics Database

CTSA, GIGYF2, KISS1, MOG, MSH3, TRIOBP, VEGFC, ZNF408,

CTSA	Galactosialidosis
GIGYF2	Parkinson disease, autosomal dominant, 11
KISS1	Hypogonadotropic hypogonadism 13 with or without anosmia
MOG	Narcolepsy 7
MSH3	Endometrial carcinoma
TRIOBP	Deafness, autosomal recessive 28
VEGFC	Lymphedema, hereditary, ID
ZNF408	Exudative vitreoretinopathy 6 Retinitis pigmentosa 72

Genes at HGMD

Summary

Number of Variants: 62
Number of Genes: 60

Export to: CSV

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AAK1
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	fam3 AWK	2	rs3832159,rs66931661 dbSNP Clinvar	69741753	1207.72	CTGT	C	PASS	0/1	165	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35583	0.35580	0.34251				None None	None None None None	AAK1\|0.297965723\|27.81%
ADM2
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	fam3 AWK	22	rs72438078,rs3840963 dbSNP Clinvar	50921148	373.23	AA...	A	PASS	0/1	148	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.11761	0.11760	0.07880				None None	None None None None	ADM2\|0.006259599\|84.34%
ALLC
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	fam3 AWK	2	rs66473381,rs759577715,rs796898978,rs201406139,rs34308920 dbSNP Clinvar	3749151	419.5	GGAA	G	PASS	0/1	140	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.41194	0.41190	0.49313				None None	None None None None	ALLC\|0.091233568\|52.99%
ALPK2
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	fam3 AWK	18	rs67925233 dbSNP Clinvar	56204387	864.81	AC...	A	PASS	1/1	94	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD31
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	fam3 AWK	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	1495.36	TTCA	T	PASS	1/1	157	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
ANP32E
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	fam3 AWK	1	rs68136184,rs56692627 dbSNP Clinvar	150199039	280.22	CT...	C	PASS	0/1	37	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35064	0.35060	0.20257				None None	None None None None	ANP32E\|0.463617374\|17.49%
ATF7IP2
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	fam3 AWK	16	rs56252625,rs113642662,rs571414967 dbSNP Clinvar	10524656	457.72	GGAC	G	PASS	0/1	168	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.60324	0.60320	0.41109				None None	None None None None	ATF7IP2\|0.022985481\|72.74%
BAIAP2L2
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	fam3 AWK	22	rs66500630,rs371997714 dbSNP Clinvar	38482352	543.52	GT...	G	PASS	1/1	57	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.14137	0.14140	0.10928				None None	None None None None	BAIAP2L2\|0.045525826\|64.05%
BBX
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	fam3 AWK	3	rs34531902,rs397757043 dbSNP Clinvar	107491758	494.06	TAGA	T	PASS	1/1	38	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.03734	0.03734	0.08853				None None	None None None None	BBX\|0.689204143\|8.82%
C16orf96
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	fam3 AWK	16	rs139232890,rs59955859 dbSNP Clinvar	4644389	124.29	CAGG	C	PASS	0/1	40	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.07408	0.07408	0.07793				None None	None None None None	C16orf96\|0.001306827\|93.86%