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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ACIN1, ADAM29, AHDC1, AHNAK2, ASXL3, BCL11A, C20orf112, CEP164, CIC, CIZ1, CLIC6, COBL, CUX2, DAAM2, ENTHD2, EZR, FAM120B, FAM86A, FOXD1, GAB2, GBP4, HNRNPL, HRCT1, IQCE, IRS1, KAT6A, KDM6B, KMT2E, LRP1B, MKL1, MLLT1, MLXIP, MYPOP, NRXN2, NXNL1, OR4C3, PCDHB7, PCLO, PDE11A, PLCB3, PLXNB1, POLR1A, POU2F2, PTS, RARA, RIN2, RNF44, RUSC1, SELPLG, SETD1A, SLC5A10, SOX9, SPEN, SSC5D, TCF7L2, TMED5, TPRN, TRIM66, TSHZ1, UBXN11, ZC3H4, ZFHX3, ZNF681,

+ Genes associated with diseases 21

Genes at Omim

AHDC1, ASXL3, BCL11A, CEP164, CIC, CUX2, IQCE, IRS1, KAT6A, MKL1, PCLO, PDE11A, POLR1A, PTS, RARA, RIN2, SOX9, TCF7L2, TPRN, TSHZ1, ZFHX3,

AHDC1	Xia-Gibbs syndrome, 615829 (3)
ASXL3	Bainbridge-Ropers syndrome, 615485 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
CEP164	Nephronophthisis 15, 614845 (3)
CIC	Mental retardation, autosomal dominant 45, 617600 (3)
CUX2	Epileptic encephalopathy, early infantile, 67, 618141 (3)
IQCE	?Polydactyly, postaxial, type A7, 617642 (3)
IRS1	{Coronary artery disease, susceptibility to} (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KAT6A	Mental retardation, autosomal dominant 32, 616268 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
POLR1A	Acrofacial dysostosis, Cincinnati type, 616462 (3)
PTS	Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
RARA	Leukemia, acute promyelocytic, 612376 (1)
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
SOX9	Campomelic dysplasia with autosomal sex reversal, 114290 (3) Campomelic dysplasia, 114290 (3) Acampomelic campomelic dysplasia, 114290 (3)
TCF7L2	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TPRN	Deafness, autosomal recessive 79, 613307 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

AHDC1, ASXL3, BCL11A, CEP164, CIZ1, KAT6A, PDE11A, POLR1A, PTS, RIN2, SOX9, TPRN, TSHZ1,

AHDC1	Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
ASXL3	Bainbridge-Ropers syndrome
BCL11A	Severe speech sound disorder
CEP164	Nephronophthisis 15
CIZ1	Primary cervical dystonia, adult-onset
KAT6A	Mental retardation, autosomal dominant 32
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
POLR1A	Acrofacial dysostosis, Cincinnati type
PTS	Hyperphenylalaninemia, BH4-deficient, A
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis
SOX9	46, XY sex reversal 10 Campomelic dysplasia
TPRN	Deafness, autosomal recessive 79
TSHZ1	Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 133
Number of Genes: 63

Export to: CSV

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ACIN1
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	55101705103716_annotated	14	.	23530745	17.0	T	G	sb	1/0	100	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	55101705103716_annotated	14	rs139086496 dbSNP Clinvar	23530739	19.0	T	G	sb	1/0	107	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ACIN1\|0.717450786\|8.04%
ADAM29
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	55101705103716_annotated	4	rs150490039 dbSNP Clinvar	175899137	25.0	T	C	sb	1/0	179	STOP_LOST	HIGH	MISSENSE							None None	None None None None	ADAM29\|0.000578944\|98.03%
AHDC1
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	55101705103716_annotated	1	rs758473342 dbSNP Clinvar	27878527	7.0	T	G	sb	1/0	52	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.26	0.00		None None	None None None None	AHDC1\|0.445284553\|18.42%
AHNAK2
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	55101705103716_annotated	14	rs201181175 dbSNP Clinvar	105412163	64.0	C	G	sb	0/1	307	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.44	0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	55101705103716_annotated	14	rs55842266 dbSNP Clinvar	105412347	87.0	C	T	sb	0/1	471	SYNONYMOUS_CODING	LOW	SILENT	0.06090	0.06090					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	55101705103716_annotated	14	rs191646265 dbSNP Clinvar	105418110	75.0	C	T	sb	0/1	257	SYNONYMOUS_CODING	LOW	SILENT	0.15655	0.15650					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	55101705103716_annotated	14	rs141600524 dbSNP Clinvar	105418155	265.0	G	C	sb	1/0	375	SYNONYMOUS_CODING	LOW	SILENT			0.08799				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	55101705103716_annotated	14	rs147978925 dbSNP Clinvar	105418149	217.0	A	T	sb	0/1	367	SYNONYMOUS_CODING	LOW	SILENT	0.23363	0.23360					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	55101705103716_annotated	14	rs201187390 dbSNP Clinvar	105418119	99.0	G	C	sb	1/0	277	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.19229	0.19230		0.44	0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
ASXL3
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	55101705103716_annotated	18	rs772621870 dbSNP Clinvar	31325884	9.0	T	C	sb	1/0	63	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ASXL3\|0.548869749\|13.78%
BCL11A
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	55101705103716_annotated	2	rs777023517 dbSNP Clinvar	60688968	7.0	A	G	sb	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.09	0.04		None None	None None None None	BCL11A\|0.997484889\|0.61%
C20orf112
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	55101705103716_annotated	20	.	31035554	18.0	A	G	sb	0/1	129	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.12	0.50		None None	None None None None	NOL4L\|0.104798004\|50.27%
CEP164
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	55101705103716_annotated	11	rs756182128 dbSNP Clinvar	117280516	13.0	A	C	sb	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.27	0.19		None None	None None None None	CEP164\|0.276473275\|29.41%
CIC
Omim - GeneCards - NCBI