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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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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:
AGPAT2, ANKRD20A4, ASPN, C9orf153, DKFZP434H0512, FAM189A2, FOXE1, HRCT1, INPP5E, LURAP1L, MEGF9, OBP2A, OLFM1, OR13C7P, OR1B1, PALM2-AKAP2, PCSK5, PHF2, PRUNE2, PTPRD, RAD23B, SNAPC4, TTC39B, TUSC1, USP20, VPS13A, ZNF367,

+ Genes associated with diseases 5

Genes at Omim

AGPAT2, ASPN, FOXE1, INPP5E, VPS13A,

AGPAT2	Lipodystrophy, congenital generalized, type 1, 608594 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
INPP5E	Joubert syndrome 1, 213300 (3) Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
VPS13A	Choreoacanthocytosis, 200150 (3)

Genes at Clinical Genomics Database

AGPAT2, FOXE1, INPP5E, VPS13A,

AGPAT2	Lipodystrophy, congenital generalized, type 1
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
INPP5E	Joubert syndrome 1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
VPS13A	Choreoacanthocytosis

Genes at HGMD

Summary

Number of Variants: 22364
Number of Genes: 27

Export to: CSV

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AGPAT2
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	h1esc_mtesr1 samtools indel	9	.	139581758	222.0	CC...	CC...	PASS	0/1	20	CODON_INSERTION	MODERATE	None							None None	None None None None	AGPAT2\|0.018792809\|74.8%
ANKRD20A4
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	h1esc_mtesr1 samtools indel	9	.	69421885	95.0	CAAA	CAA	PASS	0/1	21	FRAME_SHIFT	HIGH	None							None None	None None None None	ANKRD20A4\|0.002453356\|89.79%
ASPN
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	h1esc_mtesr1 samtools indel	9	.	95237024	124.0	CT...	CT...	PASS	0/1	10	CODON_INSERTION	MODERATE	None							None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
C9orf153
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	h1esc_mtesr1 samtools indel	9	.	88842230	222.0	TT...	TT...	PASS	0/1	16	FRAME_SHIFT	HIGH	None							None None	None None None None	C9orf153\|0.000465094\|98.62%
DKFZP434H0512
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	h1esc_mtesr1 samtools indel	9	.	98534583	86.0	TA...	TC...	PASS	0/1	16	None	None	None							None None	None None None None	None
FAM189A2
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	h1esc_mtesr1 samtools indel	9	.	72002911	228.0	TGTT	TG...	PASS	1/1	30	None	None	None							None None	None None None None	FAM189A2\|0.060951959\|59.61%
FOXE1
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	h1esc_mtesr1 samtools indel	9	.	100616700	164.0	AG...	AG...	PASS	0/1	14	CODON_DELETION	MODERATE	None							None None	None None None None	FOXE1\|0.190679781\|37.73%
HRCT1
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	h1esc_mtesr1 samtools indel	9	.	35906583	133.0	TC...	TC...	PASS	0/1	14	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	HRCT1\|0.00226937\|90.25%
INPP5E
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	h1esc_mtesr1 samtools indel	9	.	139327599	221.0	GC...	GC...	PASS	0/1	30	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	INPP5E\|0.014755828\|77.32%
LURAP1L
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	h1esc_mtesr1 samtools indel	9	.	12775861	215.0	TG...	TG...	PASS	1/1	23	CODON_INSERTION	MODERATE	None							None None	None None None None	LURAP1L\|0.198109841\|36.91%
MEGF9
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	h1esc_mtesr1 samtools indel	9	.	123476542	222.0	AC...	AC...	PASS	0/1	21	CODON_DELETION	MODERATE	None							None None	None None None None	MEGF9\|0.125329506\|46.59%
	View	h1esc_mtesr1 samtools indel	9	.	123476537	222.0	AG...	AGGCG	PASS	0/1	24	CODON_DELETION	MODERATE	None							None None	None None None None	MEGF9\|0.125329506\|46.59%
OBP2A
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	h1esc_mtesr1 samtools indel	9	.	138441685	121.0	GC...	GC...	PASS	1/1	32	FRAME_SHIFT	HIGH	None							None None	None None None None	OBP2A\|0.000333312\|99.28%
OLFM1
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	h1esc_mtesr1 samtools indel	9	rs61043559 dbSNP Clinvar	137968919	228.0	G	GAA	PASS	1/1	39	None	None	None	0.00799	0.97460					None None	None None None None	OLFM1\|0.232549612\|33.15%
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	h1esc_mtesr1 samtools indel	9	rs111606087 dbSNP Clinvar	36003428	222.0	CTT	C	PASS	0/1	40	FRAME_SHIFT	HIGH	None	0.17951	0.17950					None None	None None None None	None
OR1B1
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	h1esc_mtesr1 samtools indel	9	.	125391770	35.9913	CA...	CA...	PASS	0/1	36	FRAME_SHIFT	HIGH	None							None None	None None None None	OR1B1\|0.014476392\|77.51%
PALM2-AKAP2
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	h1esc_mtesr1 samtools indel	9	.	112900341	228.0	GG...	GG...	PASS	1/1	32	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	PALM2-AKAP2\|0.163410266\|41.09%,AKAP2\|0.121220388\|47.25%
PCSK5
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	h1esc_mtesr1 samtools indel	9	.	78790138	161.0	AA...	AA...	PASS	0/1	6	None	None	None							None None	None None None None	PCSK5\|0.396702016\|20.98%
	View	h1esc_mtesr1 samtools indel	9	.	78790148	157.0	GA...	GAATG	PASS	0/1	19	None	None	None							None None	None None None None	PCSK5\|0.396702016\|20.98%
	View	h1esc_mtesr1 samtools indel	9	.	78790207	210.0	CG...	CG...	PASS	0/1	22	None	None	None							None None	None None None None	PCSK5\|0.396702016\|20.98%
PHF2
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	h1esc_mtesr1 samtools indel	9	.	96438998	167.0	T	TC...	PASS	0/1	19	CODON_INSERTION	MODERATE	None							None None	None None None None	PHF2\|0.081704166\|54.82%
	View	h1esc_mtesr1 samtools indel	9	.	96439004	228.0	CCC	CC...	PASS	1/1	25	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	PHF2\|0.081704166\|54.82%
PRUNE2
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	h1esc_mtesr1 samtools indel	9	.	79318375	222.0	GG...	GGT	PASS	0/1	30	CODON_DELETION	MODERATE	None							None None	None None None None	PRUNE2\|0.26380863\|30.4%
	View	h1esc_mtesr1 samtools indel	9	.	79324135	222.0	AT...	AT...	PASS	0/1	28	CODON_INSERTION	MODERATE	None							None None	None None None None	PRUNE2\|0.26380863\|30.4%
PTPRD
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	h1esc_mtesr1 samtools indel	9	.	8331574	221.0	AA...	AA...	PASS	0/1	30	STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION	HIGH	None							None None	None None None None	PTPRD\|0.999948474\|0.14%
RAD23B
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	h1esc_mtesr1 samtools indel	9	.	110093970	25.3041	CA...	CA...	PASS	1/1	24	None	None	None							None None	None None None None	RAD23B\|0.449475245\|18.17%
SNAPC4
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	h1esc_mtesr1 samtools indel	9	.	139277994	222.0	CG...	CG...	PASS	0/1	28	CODON_DELETION	MODERATE	None							None None	None None None None	SNAPC4\|0.002400965\|89.89%
TTC39B
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	h1esc_mtesr1 samtools indel	9	.	15249986	222.0	TACCA	TA	PASS	0/1	41	None	None	None							None None	None None None None	TTC39B\|0.159826211\|41.57%
TUSC1
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	h1esc_mtesr1 samtools indel	9	.	25677665	222.0	CC...	CC...	PASS	0/1	15	CODON_INSERTION	MODERATE	None							None None	None None None None	TUSC1\|0.019205665\|74.58%
USP20
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	h1esc_mtesr1 samtools indel	9	.	132630664	228.0	TG...	TGAC	PASS	1/1	39	CODON_DELETION	MODERATE	None							None None	None None None None	USP20\|0.195223584\|37.23%
VPS13A
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	h1esc_mtesr1 samtools indel	9	.	79999547	222.0	GT...	GT...	PASS	0/1	26	MOTIF[MA0099.1:Cfos]	LOW	None							None None	None None None None	VPS13A\|0.225004241\|33.87%
ZNF367
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	h1esc_mtesr1 samtools indel	9	.	99180258	41.4465	GG...	GG...	PASS	0/1	22	CODON_DELETION	MODERATE	None							None None	None None None None	ZNF367\|0.124991432\|46.62%
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	h1esc_mtesr1 samtools indel	9	.	98543892	222.0	AA...	AA...	PASS	0/1	31	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98543781	194.0	GC...	GC...	PASS	1/2	18	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98542057	222.0	GT...	GT...	PASS	0/1	17	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	35865762	228.0	CA	CAA	PASS	1/1	32	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98579573	222.0	AC...	AC...	PASS	0/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98534567	75.0	AC...	AC...	PASS	0/1	10	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs762945252 dbSNP Clinvar	98527158	127.0	GCC	G	PASS	0/1	15	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98522983	221.0	GA...	GA...	PASS	0/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98515890	222.0	ACT	ACTCT	PASS	0/1	29	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98514266	21.0245	CG...	CG...	PASS	0/1	2	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98511268	61.0	AT...	AT...	PASS	1/2	22	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98507307	228.0	CAGA	CA...	PASS	1/1	30	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98506344	91.0	GA...	GA...	PASS	1/1	34	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs148047909 dbSNP Clinvar	98504290	120.0	TA	T	PASS	0/1	28	None	None	None	0.01138	0.01138					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98502610	48.8454	TA...	TA...	PASS	0/1	30	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98497154	228.0	GC...	GC...	PASS	1/1	30	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98497018	228.0	TGG	TG	PASS	1/1	34	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98494594	58.0	TG...	TG...	PASS	0/1	26	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98494415	85.0	AGGGG	AGGG	PASS	0/1	33	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98493375	115.0	CAAAA	CAAA	PASS	0/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98493312	197.0	CA...	CA...	PASS	0/1	11	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98490682	126.0	CTGTG	CTG	PASS	0/1	23	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98489588	222.0	AT...	AT...	PASS	0/1	20	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98485036	185.0	AGGG	AGG	PASS	0/1	27	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98484444	222.0	AT...	ATAG	PASS	0/1	20	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs2308113 dbSNP Clinvar	98479484	228.0	G	GTACT	PASS	1/1	27	None	None	None	0.81689	0.81690					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98470232	219.0	TC...	TC...	PASS	0/1	21	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98468189	42.9023	TC...	TC...	PASS	0/1	14	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98468147	205.0	TC...	TC...	PASS	0/1	13	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98466162	222.0	CT...	CT...	PASS	1/1	18	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98466158	192.0	GT...	GTGT	PASS	0/1	19	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98465888	134.0	TA...	TA...	PASS	1/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98456928	222.0	CG...	CG...	PASS	1/1	27	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98439615	222.0	CA...	CA...	PASS	0/1	23	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98434043	228.0	TGG	TG	PASS	1/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98431510	159.0	GTTT	GTTTT	PASS	0/1	34	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs35607928 dbSNP Clinvar	98420739	202.0	A	AT	PASS	0/1	26	None	None	None	0.68530	0.68530					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98419231	157.0	AC...	AC...	PASS	0/1	8	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98417070	216.0	CTT	CT	PASS	0/1	24	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98415504	81.0	TA...	TA...	PASS	0/1	28	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98383407	128.0	TCC	TC	PASS	0/1	34	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98383220	222.0	TT...	TT...	PASS	0/1	20	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs11282370 dbSNP Clinvar	98377521	222.0	C	CC...	PASS	0/1	30	None	None	None	0.26198	0.26200					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98375549	30.7522	GT...	GTTTT	PASS	0/1	21	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98362987	222.0	CC...	CCTCT	PASS	0/1	29	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs199998946 dbSNP Clinvar	98361209	222.0	AG	A	PASS	0/1	34	None	None	None	0.00859	0.00859					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98349512	228.0	GG	GG...	PASS	1/1	27	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98342561	36.9939	AA...	AA...	PASS	0/1	7	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98331742	222.0	AA...	AA...	PASS	0/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98318377	222.0	CTT	CT	PASS	0/1	38	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98317652	228.0	CA	CAA	PASS	1/1	28	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98252802	20.3136	GA...	GA...	PASS	0/1	16	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98239023	222.0	CTTTT	CT	PASS	0/1	36	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98217621	187.0	ACC	AC	PASS	0/1	33	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98214610	71.0	GA...	GA...	PASS	0/1	26	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98207926	222.0	GAAG	GA...	PASS	0/1	23	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98206791	222.0	GC...	GC...	PASS	0/1	29	None	None	None							None None	None None None None	PTCH1\|0.998599634\|0.48%
	View	h1esc_mtesr1 samtools indel	9	.	98198187	213.0	TT...	TT...	PASS	0/1	12	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98198176	228.0	CT...	CT...	PASS	1/1	10	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98193703	222.0	CA...	CA...	PASS	0/1	19	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98193634	137.0	CA...	CA...	PASS	0/1	16	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98190761	83.0	AT...	AT...	PASS	1/1	24	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98183256	59.0	GA...	GA...	PASS	0/1	25	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	rs66734747 dbSNP Clinvar	98182221	53.0	TC	T	PASS	0/1	12	None	None	None	0.61621	0.61620					None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98182208	26.8617	TT...	TT...	PASS	0/1	10	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98180677	195.0	GG...	GG...	PASS	1/2	20	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98178895	222.0	CAA	CA	PASS	0/1	35	None	None	None							None None	None None None None	None
	View	h1esc_mtesr1 samtools indel	9	.	98173663	183.0	GAAA	GAAAA	PASS	0/1	25	None	None	None							None None	None None None None	None

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FREQUENCIES

SCORES

+ Genes 27

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AGPAT2

ANKRD20A4

ASPN

C9orf153

DKFZP434H0512

FAM189A2

FOXE1

HRCT1

INPP5E

LURAP1L

MEGF9

OBP2A

OLFM1

OR13C7P

OR1B1

PALM2-AKAP2

PCSK5

PHF2

PRUNE2

PTPRD

RAD23B

SNAPC4

TTC39B

TUSC1

USP20

VPS13A

ZNF367

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