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

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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

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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:
AC008948.1, AXDND1, C14orf180, C19orf33, C6orf132, CCDC177, CCDC33, CHRNA3, DACH1, DUX4L4, EVA1A, FAM230A, FAM47A, FBXL21, FLII, FNBP4, GOLGA6L2, GOLGA6L6, GOLGA8S, GPX1, HDGFRP2, HLA-DQA1, HLA-DRB1, HLA-DRB5, HYDIN, IGHV3-11, IRF2BPL, KCNJ12, KRT1, KRTAP10-2, KRTAP17-1, LRRC17, MAFA, MAML2, MAML3, MAP3K1, MAP9, MSH3, NUTM2F, OR2T4, OR4X1, OVGP1, PDCD6, PER3, PIK3C2G, REXO1, RFPL1, RNH1, SRP14, TAF4, TCF7L1, TDRP, THAP11, TMEM229A, TP53TG5, TRIO, TSKS, TSPYL6, USP20, VSIG10, ZNF284, ZNF384, ZNF626,

+ Genes associated with diseases 13

Genes at Omim

CHRNA3, GPX1, HLA-DQA1, HLA-DRB1, HYDIN, IRF2BPL, KRT1, MAFA, MAML2, MAP3K1, MSH3, PER3, TRIO,

CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KRT1	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)

Genes at Clinical Genomics Database

KRT1, MAP3K1, MSH3, PER3,

KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
MAP3K1	46,XY sex reversal 6
MSH3	Endometrial carcinoma
PER3	Advanced sleep phase syndrome, familial, 3

Genes at HGMD

Summary

Number of Variants: 64
Number of Genes: 63

Export to: CSV

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AC008948.1
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	combined sample_53.variant16	5	rs149085489 dbSNP Clinvar	101570503	2048.54	CT...	C	PASS	1/1	87	CODON_DELETION	MODERATE	None	0.40575	0.40580					None None	None None None None	SLCO4C1\|0.038449749\|66.31%
AXDND1
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	combined sample_53.variant16	1	rs551573109 dbSNP Clinvar	179504025	1409.55	AA...	AA...	PASS	1/1	115	CODON_DELETION	MODERATE	None	0.00080	0.00080					None None	None None None None	AXDND1\|0.018165173\|75.2%
C14orf180
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	combined sample_53.variant16	14	rs111285011,rs750841137,rs11278058,rs569942489 dbSNP Clinvar	105055118	3475.5	TG...	T	PASS	0/1	101	CODON_DELETION	MODERATE	None	0.60144	0.60140	0.37790				None None	None None None None	TMEM179\|0.016981919\|75.87%,C14orf180\|0.001311006\|93.82%
C19orf33
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	combined sample_53.variant16	19	rs139805446 dbSNP Clinvar	38795546	1398.44	TGAA	T	PASS	0/1	75	CODON_DELETION	MODERATE	None	0.15395	0.15400	0.13221				None None	None None None None	C19orf33\|0.001107009\|94.9%
C6orf132
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	combined sample_53.variant16	6	rs150599390 dbSNP Clinvar	42072709	1554.03	AC...	A	PASS	0/1	91	CODON_DELETION	MODERATE	None	0.04293	0.04293	0.07012				None None	None None None None	C6orf132\|0.022955823\|72.75%
CCDC177
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	combined sample_53.variant16	14	rs147747237,rs4048622 dbSNP Clinvar	70039803	1814.63	CG...	C,...	PASS	1/1	45	CODON_DELETION	MODERATE	None	0.96625	0.96630					None None	None None None None	CCDC177\|0.002964422\|88.69%
CCDC33
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	combined sample_53.variant16	15	rs10552820,rs35899977,rs397774110 dbSNP Clinvar	74536400	1201.33	TAAG	T	PASS	1/1	76	CODON_DELETION	MODERATE	None	0.37700	0.37700	0.46150				None None	None None None None	CCDC33\|0.011870787\|79.31%
CHRNA3
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	combined sample_53.variant16	15	rs66793222,rs143833222,rs60706203 dbSNP Clinvar	78913067	2842.06	ACAG	A	PASS	1/1	110	CODON_DELETION	MODERATE	None							None None	None None None None	CHRNA3\|0.230381335\|33.33%
DACH1
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	combined sample_53.variant16	13	rs782625726 dbSNP Clinvar	72440658	2291.95	TG...	TG...	PASS	1/1	62	CODON_DELETION	MODERATE	None							None None	None None None None	DACH1\|0.996005265\|0.75%
DUX4L4
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	combined sample_53.variant16	4	.	191003277	97.74	CGCG	C	PASS	1/1	6	CODON_DELETION	MODERATE	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%