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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:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

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 17

Genes:
AK2, C1orf87, C20orf96, C5orf56, CYTH1, DHX9, DMGDH, FRG1B, MGP, NAPRT1, OGDHL, PAX7, PSMD1, TEK, VPS13B, VWA5B2, VWC2L,

+ Genes associated with diseases 6

Genes at Omim

AK2, DMGDH, MGP, PAX7, TEK, VPS13B,

AK2	Reticular dysgenesis, 267500 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
MGP	Keutel syndrome, 245150 (3)
PAX7	Rhabdomyosarcoma 2, alveolar, 268220 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
VPS13B	Cohen syndrome, 216550 (3)

Genes at Clinical Genomics Database

AK2, DMGDH, MGP, TEK, VPS13B,

AK2	Reticular dysgenesis
DMGDH	Dimethylglycine dehydrogenase deficiency
MGP	Keutel syndrome
TEK	Venous malformations, multiple cutaneous and mucosal
VPS13B	Cohen syndrome

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 17

Export to: CSV

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AK2
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	8754_onol_s2_vs_onol_n_ucla TUMOR	1	.	33479001	0.0	G	GA...	alt_allele_in_normal;clustered_events	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	AK2\|0.52008847\|15.01%
C1orf87
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	8754_onol_s2_vs_onol_n_ucla TUMOR	1	.	60520876	0.0	A	AT...	alt_allele_in_normal;clustered_events;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	C1orf87\|0.023338791\|72.51%
C20orf96
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	8754_onol_s2_vs_onol_n_ucla TUMOR	20	.	271231	0.0	C	CT...	clustered_events	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	None
C5orf56
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	8754_onol_s2_vs_onol_n_ucla TUMOR	5	.	131785342	0.0	G	GT...	t_lod_fstar;triallelic_site	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	C5orf56\|0.001966163\|91.09%
CYTH1
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	8754_onol_s2_vs_onol_n_ucla TUMOR	17	.	76705808	0.0	CTGGG	C	alt_allele_in_normal;clustered_events;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	CYTH1\|0.181834216\|38.79%
DHX9
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	8754_onol_s2_vs_onol_n_ucla TUMOR	1	.	182847153	0.0	TAGGC	T	clustered_events;homologous_mapping_event;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	DHX9\|0.641181986\|10.4%
DMGDH
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	8754_onol_s2_vs_onol_n_ucla TUMOR	5	.	78326656	0.0	CT	C	t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	DMGDH\|0.169846291\|40.33%
FRG1B
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	8754_onol_s2_vs_onol_n_ucla TUMOR	20	rs761745077 dbSNP Clinvar	29623251	0.0	G	GA	alt_allele_in_normal	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	FRG1B\|0.009509512\|81.26%
MGP
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	8754_onol_s2_vs_onol_n_ucla TUMOR	12	.	15035906	0.0	CT	C	t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	C12orf60\|0.003562818\|87.67%,MGP\|0.701457529\|8.46%
NAPRT1
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	8754_onol_s2_vs_onol_n_ucla TUMOR	8	.	144657792	0.0	CT...	C	PASS	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	NAPRT\|0.033021116\|68.15%
OGDHL
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	8754_onol_s2_vs_onol_n_ucla TUMOR	10	.	50948880	0.0	G	GC...	clustered_events;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	OGDHL\|0.21301718\|35.24%
PAX7
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	8754_onol_s2_vs_onol_n_ucla TUMOR	1	.	19029587	0.0	G	GT	clustered_events;homologous_mapping_event;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	PAX7\|0.616917555\|11.21%
PSMD1
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	8754_onol_s2_vs_onol_n_ucla TUMOR	2	.	232026054	0.0	G	GT...	clustered_events;multi_event_alt_allele_in_normal	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	PSMD1\|0.792250316\|6.05%
TEK
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	8754_onol_s2_vs_onol_n_ucla TUMOR	9	.	27180363	0.0	GA	G	t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	TEK\|0.672230071\|9.33%
VPS13B
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	8754_onol_s2_vs_onol_n_ucla TUMOR	8	.	100844596	0.0	G	GT...	clustered_events;homologous_mapping_event;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	VPS13B\|0.854148559\|4.55%
VWA5B2
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	8754_onol_s2_vs_onol_n_ucla TUMOR	3	.	183951182	0.0	A	AGC	clustered_events;homologous_mapping_event;t_lod_fstar	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	EIF2B5\|0.736636231\|7.47%,VWA5B2\|0.054368761\|61.38%
VWC2L
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	8754_onol_s2_vs_onol_n_ucla TUMOR	2	.	215301475	0.0	C	CA...	clustered_events;multi_event_alt_allele_in_normal	0/1	0	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	VWC2L\|0.888840699\|3.72%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 17

+ Genes associated with diseases 6

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AK2

C1orf87

C20orf96

C5orf56

CYTH1

DHX9

DMGDH

FRG1B

MGP

NAPRT1

OGDHL

PAX7

PSMD1

TEK

VPS13B

VWA5B2

VWC2L

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