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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:
AC062017.1, AKR1E2, AMPD1, ANKZF1, ARL2BP, BAZ2B, BCL2L2-PABPN1, CCDC148, CENPE, CHD8, FRYL, FUT8, GCN1L1, GPNMB, GPR126, GPX7, GYLTL1B, HECW1, LRRC52, MDN1, MFSD2B, MMP27, MUC3A, MYOM2, NXF5, OSBPL2, P4HA3, PBRM1, PCGF5, PCNXL3, PNPLA6, RASGEF1A, STRN, TAF1, TMED8, WASF1,

+ Genes associated with diseases 9

Genes at Omim

AMPD1, ARL2BP, CENPE, CHD8, FUT8, GPNMB, OSBPL2, PNPLA6, TAF1,

AMPD1	Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
ARL2BP	Retinitis pigmentosa with or without situs inversus, 615434 (3)
CENPE	?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
FUT8	Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GPNMB	Amyloidosis, primary localized cutaneous, 3, 617920 (3)
OSBPL2	Deafness, autosomal dominant 67, 616340 (3)
PNPLA6	Boucher-Neuhauser syndrome, 215470 (3) Oliver-McFarlane syndrome, 275400 (3) Spastic paraplegia 39, autosomal recessive, 612020 (3) ?Laurence-Moon syndrome, 245800 (3)
TAF1	Dystonia-Parkinsonism, X-linked, 314250 (3) Mental retardation, X-linked, syndromic 33, 300966 (3)

Genes at Clinical Genomics Database

AMPD1, ARL2BP, CENPE, CHD8, NXF5, OSBPL2, PBRM1, PNPLA6, TAF1,

AMPD1	Myoadenylate deaminase deficiency
ARL2BP	Retinitis pigmentosa with or without situs inversus
CENPE	Microcephaly 13, primary, autosomal recessive
CHD8	Autism, susceptibility to 18
NXF5	Familial heart block and focal segmental glomerulosclerosis
OSBPL2	Deafness, autosomal dominant 67
PBRM1	Clear cell renal cell carcinoma
PNPLA6	Boucher-Neuhauser syndrome Laurence-Moon syndrome Oliver-McFarlane syndrome
TAF1	Dystonia 3, torsion, X-linked Mental retardation, X-linked, syndromic 33

Genes at HGMD

Summary

Number of Variants: 36
Number of Genes: 36

Export to: CSV

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AC062017.1
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	snps raw SHA-06-33146	2	rs1709851 dbSNP Clinvar	240323661	7164.33	C	A	.	1/1	40	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None	0.76178	0.76180					None None	None None None None	None
AKR1E2
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	snps raw SHA-06-33146	10	.	4884694	96.33	C	T	.	0/1	28	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	AKR1E2\|0.003819928\|87.28%
AMPD1
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	snps raw SHA-06-33146	1	rs17602729 dbSNP Clinvar	115236057	594.9	G	A	.	0/1	8	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None	0.03814	0.03814	0.09459				None None	None None None None	AMPD1\|0.217023192\|34.75%
ANKZF1
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	snps raw SHA-06-33146	2	.	220098153	16.43	A	T	LowQual	0/1	25	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	ANKZF1\|0.070150813\|57.45%
ARL2BP
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	snps raw SHA-06-33146	16	.	57282555	28.35	C	A	LowQual	0/1	7	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	ARL2BP\|0.201307807\|36.62%
BAZ2B
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	snps raw SHA-06-33146	2	.	160284928	28.34	C	T	LowQual	0/1	21	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	BAZ2B\|0.746527819\|7.18%
BCL2L2-PABPN1
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	snps raw SHA-06-33146	14	.	23777408	36.33	G	A	LowQual	0/1	15	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	BCL2L2\|0.580284397\|12.57%,BCL2L2-PABPN1\|0.816191843\|5.42%
CCDC148
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	snps raw SHA-06-33146	2	.	159197110	27.34	C	A	LowQual	0/1	20	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	CCDC148\|0.136612677\|44.93%
CENPE
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	snps raw SHA-06-33146	4	.	104102496	63.33	C	A	.	0/1	15	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	CENPE\|0.108588521\|49.44%
CHD8
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	snps raw SHA-06-33146	14	.	21868574	22.36	G	T	LowQual	0/1	22	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	CHD8\|0.616080012\|11.24%
FRYL
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	snps raw SHA-06-33146	4	.	48542372	136.33	G	T	.	0/1	18	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	FRYL\|0.342095381\|24.68%
FUT8
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	snps raw SHA-06-33146	14	.	66200097	12.58	C	T	LowQual	0/1	31	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	FUT8\|0.707303354\|8.3%
GCN1L1
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	snps raw SHA-06-33146	12	.	120612967	31.34	G	T	LowQual	0/1	37	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	GCN1L1\|0.277880107\|29.28%
GPNMB
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	snps raw SHA-06-33146	7	.	23300077	11.64	C	T	LowQual	0/1	5	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	GPNMB\|0.028507264\|70.19%
GPR126
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	snps raw SHA-06-33146	6	.	142725108	27.34	C	T	LowQual	0/1	9	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	ADGRG6\|0.153134359\|42.51%
GPX7
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	snps raw SHA-06-33146	1	.	53068218	98.33	C	A	.	0/1	34	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	GPX7\|0.168837667\|40.47%
GYLTL1B
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	snps raw SHA-06-33146	11	.	45950181	13.53	G	T	LowQual	0/1	4	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	GYLTL1B\|0.123922139\|46.83%
HECW1
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	snps raw SHA-06-33146	7	.	43400487	55.33	G	T	.	0/1	23	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	HECW1\|0.293834197\|28.13%
LRRC52
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	snps raw SHA-06-33146	1	.	165514153	33.34	C	A	LowQual	0/1	17	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	LRRC52\|0.017565206\|75.56%
MDN1
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	snps raw SHA-06-33146	6	.	90494733	27.34	C	A	LowQual	0/1	39	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	MDN1\|0.180988961\|38.9%
MFSD2B
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	snps raw SHA-06-33146	2	.	24244838	50.33	C	T	.	0/1	20	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	MFSD2B\|0.025863945\|71.39%
MMP27
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	snps raw SHA-06-33146	11	.	102564639	113.33	C	T	.	0/1	11	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	MMP27\|0.05554199\|61.05%
MUC3A
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	snps raw SHA-06-33146	7	.	100606309	37.34	C	T	LowQual	0/1	139	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
MYOM2
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	snps raw SHA-06-33146	8	.	2048842	28.34	A	T	LowQual	0/1	16	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	MYOM2\|0.036862346\|66.84%
NXF5
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	snps raw SHA-06-33146	X	.	101091801	137.33	C	T	.	0/1	44	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	NXF5\|0.002367398\|89.99%
OSBPL2
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	snps raw SHA-06-33146	20	.	60861765	14.49	C	T	LowQual	0/1	14	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	OSBPL2\|0.030191434\|69.32%
P4HA3
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	snps raw SHA-06-33146	11	.	73996854	94.33	C	T	.	0/1	61	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	P4HA3\|0.142053644\|44.14%
PBRM1
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	snps raw SHA-06-33146	3	.	52582249	88.33	G	A	.	0/1	28	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	SMIM4\|0.169808541\|40.34%,PBRM1\|0.664761336\|9.54%
PCGF5
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	snps raw SHA-06-33146	10	.	93038027	22.36	C	A	LowQual	0/1	10	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	PCGF5\|0.697871714\|8.55%
PCNXL3
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	snps raw SHA-06-33146	11	.	65396417	50.33	C	A	.	0/1	39	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	PCNXL3\|0.117545332\|47.84%
PNPLA6
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	snps raw SHA-06-33146	19	.	7614997	102.33	G	T	.	0/1	55	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	PNPLA6\|0.241066671\|32.35%
RASGEF1A
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	snps raw SHA-06-33146	10	.	43693454	22.36	T	A	LowQual	0/1	19	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	RASGEF1A\|0.147306183\|43.42%
STRN
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	snps raw SHA-06-33146	2	.	37121042	35.33	C	T	LowQual	0/1	43	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	STRN\|0.401385344\|20.67%
TAF1
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	snps raw SHA-06-33146	X	.	70598674	59.33	G	T	.	0/1	18	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	TAF1\|0.58613264\|12.29%
TMED8
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	snps raw SHA-06-33146	14	.	77843281	96.41	G	T	.	0/1	10	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	TMED8\|0.183347782\|38.62%,SAMD15\|0.00831901\|82.32%
WASF1
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	snps raw SHA-06-33146	6	.	110429733	37.33	A	T	LowQual	0/1	28	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	WASF1\|0.563273084\|13.23%