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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:
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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 19

Genes:
AKAP3, B4GALNT3, C12orf5, CACNA1C, CACNA2D4, CCDC77, DCP1B, EFCAB4B, FBXL14, FGF6, FOXM1, GALNT8, IQSEC3, KCNA6, KDM5A, RAD51AP1, RAD52, SLC6A12, WNK1,

+ Genes associated with diseases 3

Genes at Omim

CACNA1C, CACNA2D4, WNK1,

CACNA1C	Brugada syndrome 3, 611875 (3) Timothy syndrome, 601005 (3)
CACNA2D4	Retinal cone dystrophy 4, 610478 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

CACNA1C, CACNA2D4, WNK1,

CACNA1C	Brugada syndrome 3 Timothy syndrome
CACNA2D4	Retinal cone dystrophy 4
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 140
Number of Genes: 19

Export to: CSV

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AKAP3
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	hgcat_input_example-3	12	rs11063266 dbSNP Clinvar	4736677	11185.4	G	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.91154	0.91150	0.05090	0.32	0.00		None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs11063265 dbSNP Clinvar	4736631	9293.36	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.98283	0.98280	0.02314				None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs1990312 dbSNP Clinvar	4736495	14365.3	C	T	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.98283	0.98280	0.02299	1.00	0.00		None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs2072355 dbSNP Clinvar	4737715	7804.74	C	T	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.70547	0.70550	0.26203	1.00	0.00		None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs2072356 dbSNP Clinvar	4737459	11354.5	C	T	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.70727	0.70730	0.26196				None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs7960207 dbSNP Clinvar	4737318	16439.7	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.81749	0.81750	0.12133				None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs7972737 dbSNP Clinvar	4737042	16763.6	G	A	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.28455	0.28450	0.37567				None None	None None None None	AKAP3\|0.022604217\|72.88%
	View	hgcat_input_example-3	12	rs10774251 dbSNP Clinvar	4736690	10972.6	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.97264	0.97260	0.03283				None None	None None None None	AKAP3\|0.022604217\|72.88%
B4GALNT3
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	hgcat_input_example-3	12	rs758790 dbSNP Clinvar	662448	5418.16	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.84724	0.84720	0.26572				None None	None None None None	B4GALNT3\|0.028265322\|70.31%
C12orf5
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	hgcat_input_example-3	12	rs7309402 dbSNP Clinvar	4459032	9095.33	G	A	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.27336	0.27340	0.14909				None None	None None None None	TIGAR\|0.017408746\|75.62%
CACNA1C
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	hgcat_input_example-3	12	rs10774054 dbSNP Clinvar	2791205	5798.29	A	G	PASS	1/1	0	None	None	None	1.00000	1.00000	0.00019	1.00	0.00		None None	None None None None	CACNA1C\|0.702781937\|8.42%
	View	hgcat_input_example-3	12	rs10848683 dbSNP Clinvar	2791130	4110.97	C	T	PASS	0/1	0	None	None	None	0.66913	0.66910	0.27524	0.25	0.00		None None	None None None None	CACNA1C\|0.702781937\|8.42%
	View	hgcat_input_example-3	12	rs10774053 dbSNP Clinvar	2791132	4201.5	A	G	PASS	0/1	0	None	None	None	0.77057	0.77060	0.18039	0.50	0.00		None None	None None None None	CACNA1C\|0.702781937\|8.42%
	View	hgcat_input_example-3	12	rs1051375 dbSNP Clinvar	2788879	2301.03	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.52636	0.52640	0.41888				None None	None None None None	CACNA1C\|0.702781937\|8.42%
CACNA2D4
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	hgcat_input_example-3	12	rs2286372 dbSNP Clinvar	1965369	2197.44	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.17392	0.17390	0.03964				None None	None None None None	CACNA2D4\|0.041118037\|65.41%
	View	hgcat_input_example-3	12	rs11836202 dbSNP Clinvar	1955786	690.8	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.17851	0.17850	0.03489				None None	None None None None	CACNA2D4\|0.041118037\|65.41%
	View	hgcat_input_example-3	12	rs10735005 dbSNP Clinvar	1995403	10099.7	T	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.93710	0.93710	0.08353	1.00	0.00		None None	None None None None	CACNA2D4\|0.041118037\|65.41%
CCDC77
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	hgcat_input_example-3	12	rs735295 dbSNP Clinvar	547683	4463.74	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.32288	0.32290	0.27195	0.57	0.00		None None	None None None None	CCDC77\|0.055296478\|61.11%
	View	hgcat_input_example-3	12	rs4980895 dbSNP Clinvar	520947	1412.72	A	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.22304	0.22300	0.17192	0.08	0.00		None None	None None None None	CCDC77\|0.055296478\|61.11%
DCP1B
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	hgcat_input_example-3	12	rs149912567,rs749249960,rs111543431,rs71057810 dbSNP Clinvar	2062323	2005.93	T	TTGC	PASS	0/1	0	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DCP1B\|0.012911973\|78.55%
EFCAB4B
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	hgcat_input_example-3	12	rs7138453 dbSNP Clinvar	3749874	5086.84	T	C	PASS	1/1	0	None	None	None	0.57768	0.57770	0.45160		0.00		None None	None None None None	CRACR2A\|0.025184892\|71.72%
FBXL14
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	hgcat_input_example-3	12	rs35466364 dbSNP Clinvar	1702912	1499.11	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.03275	0.03275	0.03029				None None	None None None None	WNT5B\|0.180614898\|38.96%,FBXL14\|0.195540464\|37.21%
FGF6
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	hgcat_input_example-3	12	rs7358740 dbSNP Clinvar	4554548	8508.21	G	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.90316	0.90320	0.09442				None None	None None None None	FGF6\|0.345620711\|24.45%
FOXM1
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	hgcat_input_example-3	12	rs2215292 dbSNP Clinvar	2968458	11391.3	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.99720	0.99720	0.01369				None None	None None None None	ITFG2\|0.042941889\|64.82%,FOXM1\|0.913101056\|3.16%
GALNT8
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	hgcat_input_example-3	12	rs1468556 dbSNP Clinvar	4873163	3016.13	G	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.32967	0.32970	0.37783	0.07	0.11		None None	None None None None	GALNT8\|0.003129385\|88.44%
	View	hgcat_input_example-3	12	rs2286578 dbSNP Clinvar	4835882	1717.88	T	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.31310	0.31310	0.35522				None None	None None None None	GALNT8\|0.003129385\|88.44%
	View	hgcat_input_example-3	12	rs10849133 dbSNP Clinvar	4830000	1852.97	T	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.38199	0.38200	0.41012	1.00	0.00		None None	None None None None	GALNT8\|0.003129385\|88.44%
IQSEC3
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	hgcat_input_example-3	12	rs4980859 dbSNP Clinvar	274647	2458.44	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.26078	0.26080	0.25542				None None	None None None None	IQSEC3\|0.07327111\|56.71%
	View	hgcat_input_example-3	12	rs56204927 dbSNP Clinvar	248202	1968.16	C	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.65615	0.65620	0.34972	0.84	0.00		None None	None None None None	IQSEC3\|0.07327111\|56.71%
	View	hgcat_input_example-3	12	rs77474006 dbSNP Clinvar	248071	447.62	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.05691	0.05691	0.04655	0.07	0.00		None None	None None None None	IQSEC3\|0.07327111\|56.71%
KCNA6
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	hgcat_input_example-3	12	rs758534 dbSNP Clinvar	4919267	4280.68	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.44709	0.44710	0.41401				None None	None None None None	GALNT8\|0.003129385\|88.44%,KCNA6\|0.142461897\|44.08%
KDM5A
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	hgcat_input_example-3	12	rs11062385 dbSNP Clinvar	427575	933.16	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.35304	0.35300	0.27341	0.36	0.00		None None	None None None None	KDM5A\|0.438087268\|18.78%
	View	hgcat_input_example-3	12	rs2229351 dbSNP Clinvar	406292	1788.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.35264	0.35260	0.27324				None None	None None None None	KDM5A\|0.438087268\|18.78%
RAD51AP1
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	hgcat_input_example-3	12	rs17850028 dbSNP Clinvar	4662210	5921.31	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.05112	0.05112	0.05429				None None	None None None None	RAD51AP1\|0.069123169\|57.71%
RAD52
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	hgcat_input_example-3	12	rs4987208 dbSNP Clinvar	1022569	1704.42	A	C	PASS	0/1	0	STOP_GAINED	HIGH	None	0.02216	0.02216	0.01477				None None	None None None None	RAD52\|0.088397129\|53.56%
SLC6A12
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	hgcat_input_example-3	12	rs216250 dbSNP Clinvar	311949	8634.45	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.61601	0.61600	0.47132				None None	None None None None	SLC6A12\|0.124910643\|46.64%
WNK1
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	hgcat_input_example-3	12	rs10774466 dbSNP Clinvar	939302	10617.7	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.69349	0.69350	0.31447				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs3168640 dbSNP Clinvar	862989	4252.92	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.97564	0.97560	0.02760				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs1012729 dbSNP Clinvar	987482	6964.18	G	A	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.67951	0.67950	0.32047				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs9804992 dbSNP Clinvar	988894	14461.6	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.14577	0.14580	0.14778				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs956868 dbSNP Clinvar	990912	8664.82	A	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.85284	0.85280	0.14739	1.00	0.00		None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs7300444 dbSNP Clinvar	993930	2906.92	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.39896	0.39900	0.39167				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs7955371 dbSNP Clinvar	994487	20267.9	G	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.98682	0.98680	0.01392	1.00	0.00		None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs148639270 dbSNP Clinvar	998338	4631.12	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.01577	0.01577	0.00062				None None	None None None None	WNK1\|0.318010561\|26.23%
	View	hgcat_input_example-3	12	rs4766334 dbSNP Clinvar	1017197	4846.51	C	T	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.98702	0.98700	0.01384				None None	None None None None	WNK1\|0.318010561\|26.23%
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	hgcat_input_example-3	12	rs7310449 dbSNP Clinvar	1022115	7594.61	G	A	PASS	1/1	0	None	None	None	0.42472	0.42470					None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs11571476 dbSNP Clinvar	1022158	7729.13	T	TA	PASS	1/1	0	None	None	None	0.42732	0.42730					None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs7301931 dbSNP Clinvar	1022184	5663.62	T	C	PASS	1/1	0	None	None	None	0.42712	0.42710					None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	.	1021911	1622.25	AC	A	PASS	1/1	0	None	None	None							None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs10774481 dbSNP Clinvar	1100637	91.81	G	C	PASS	1/1	0	None	None	None	0.44090	0.44090					None None	None None None None	ERC1\|0.710637162\|8.21%
	View	hgcat_input_example-3	12	rs1064125 dbSNP Clinvar	1600978	7842.11	A	T	PASS	1/1	0	None	None	None	0.33486	0.33490					None None	None None None None	ERC1\|0.710637162\|8.21%
	View	hgcat_input_example-3	12	rs10773946 dbSNP Clinvar	1601722	9534.65	C	G	PASS	1/1	0	None	None	None	0.91174	0.91170					None None	None None None None	ERC1\|0.710637162\|8.21%
	View	hgcat_input_example-3	12	rs139305320 dbSNP Clinvar	1611800	14518.6	C	CG...	PASS	1/1	0	None	None	None							None None	None None None None	None
	View	hgcat_input_example-3	12	rs4765821 dbSNP Clinvar	1611846	6681.51	T	G	PASS	1/1	0	None	None	None	0.65974	0.65970					None None	None None None None	None
	View	hgcat_input_example-3	12	rs4765822 dbSNP Clinvar	1611894	7168.18	G	A	PASS	1/1	0	None	None	None	0.64657	0.64660					None None	None None None None	None
	View	hgcat_input_example-3	12	rs7965881 dbSNP Clinvar	1612090	8586.9	A	G	PASS	1/1	0	None	None	None	0.68530	0.68530					None None	None None None None	None
	View	hgcat_input_example-3	12	rs11061788 dbSNP Clinvar	1612166	7797.45	C	T	PASS	1/1	0	None	None	None	0.28135	0.28130					None None	None None None None	None
	View	hgcat_input_example-3	12	rs7301199 dbSNP Clinvar	1612579	7774.98	A	G	PASS	1/1	0	None	None	None	0.92552	0.92550					None None	None None None None	None
	View	hgcat_input_example-3	12	rs10773948 dbSNP Clinvar	1612770	11623.9	C	T	PASS	1/1	0	None	None	None	0.66594	0.66590					None None	None None None None	None
	View	hgcat_input_example-3	12	rs12813669 dbSNP Clinvar	1613253	791.17	C	T	PASS	0/1	0	None	None	None	0.28834	0.28830					None None	None None None None	None
	View	hgcat_input_example-3	12	rs10744542 dbSNP Clinvar	1613257	1031.84	T	C	PASS	0/1	0	None	None	None	0.91174	0.91170					None None	None None None None	None
	View	hgcat_input_example-3	12	rs34677864 dbSNP Clinvar	1613272	55.87	AT	A	PASS	0/1	0	None	None	None	0.25499	0.25500					None None	None None None None	None
	View	hgcat_input_example-3	12	.	1021888	736.91	C	CAAA	PASS	1/1	0	None	None	None							None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs3803164 dbSNP Clinvar	1755654	11212.5	C	T	PASS	1/1	0	None	None	None	0.64277	0.64280					None None	None None None None	WNT5B\|0.180614898\|38.96%
	View	hgcat_input_example-3	12	rs758169 dbSNP Clinvar	1895373	8610.3	T	G	PASS	1/1	0	None	None	None	0.96885	0.96880					None None	None None None None	ADIPOR2\|0.349639817\|24.16%
	View	hgcat_input_example-3	12	rs12342 dbSNP Clinvar	1896880	7792.24	C	T	PASS	1/1	0	None	None	None	0.36262	0.36260					None None	None None None None	ADIPOR2\|0.349639817\|24.16%
	View	hgcat_input_example-3	12	rs12811035 dbSNP Clinvar	1901546	2130.91	A	C	PASS	1/1	0	None	None	None	0.15196	0.15200					None None	None None None None	CACNA2D4\|0.041118037\|65.41%
	View	hgcat_input_example-3	12	rs4765845 dbSNP Clinvar	1929958	1139.95	G	A	PASS	0/1	0	None	None	None	0.41873	0.41870					None None	None None None None	CACNA2D4\|0.041118037\|65.41%,LRTM2\|0.097917955\|51.53%
	View	hgcat_input_example-3	12	rs140355519 dbSNP Clinvar	1943921	2329.08	G	A	PASS	0/1	0	None	None	None	0.01278	0.01278	0.00047				None None	None None None None	CACNA2D4\|0.041118037\|65.41%,LRTM2\|0.097917955\|51.53%
	View	hgcat_input_example-3	12	rs11061996 dbSNP Clinvar	1945499	7353.1	G	A	PASS	1/1	0	None	None	None	0.54193	0.54190					None None	None None None None	CACNA2D4\|0.041118037\|65.41%,LRTM2\|0.097917955\|51.53%
	View	hgcat_input_example-3	12	rs11226 dbSNP Clinvar	1021813	769.12	G	A	PASS	1/1	0	None	None	None	0.43011	0.43010					None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs373916614 dbSNP Clinvar	1022229	1423.27	AG	A	PASS	1/1	0	None	None	None							None None	None None None None	RAD52\|0.088397129\|53.56%
	View	hgcat_input_example-3	12	rs34979622 dbSNP Clinvar	670975	2685.82	G	A	PASS	1/1	0	None	None	None	0.47784	0.47780					None None	None None None None	B4GALNT3\|0.028265322\|70.31%
	View	hgcat_input_example-3	12	rs7222 dbSNP Clinvar	2055266	2049.43	T	C	PASS	0/1	0	None	None	None	0.51398	0.51400					None None	None None None None	DCP1B\|0.012911973\|78.55%
	View	hgcat_input_example-3	12	rs56150479 dbSNP Clinvar	670893	5375.47	G	A	PASS	1/1	0	None	None	None	0.24800	0.24800					None None	None None None None	B4GALNT3\|0.028265322\|70.31%
	View	hgcat_input_example-3	12	rs7316246 dbSNP Clinvar	2804455	8174.1	G	A	PASS	0/1	0	None	None	None	0.10743	0.10740					None None	None None None None	None
	View	hgcat_input_example-3	12	rs7302540 dbSNP Clinvar	2804638	17567.3	A	G	PASS	1/1	0	None	None	None	0.94828	0.94830					None None	None None None None	None
	View	hgcat_input_example-3	12	rs12809807 dbSNP Clinvar	2804664	5008.76	C	A	PASS	0/1	0	None	None	None	0.06310	0.06310					None None	None None None None	None
	View	hgcat_input_example-3	12	rs10466907 dbSNP Clinvar	2804976	11093.4	T	G	PASS	0/1	0	None	None	None	0.19569	0.19570					None None	None None None None	None
	View	hgcat_input_example-3	12	rs4765975 dbSNP Clinvar	2805196	25298.5	T	A	PASS	0/1	0	None	None	None	0.77117	0.77120					None None	None None None None	None
	View	hgcat_input_example-3	12	rs7957163 dbSNP Clinvar	2805632	2968.93	C	A	PASS	0/1	0	None	None	None	0.19489	0.19490					None None	None None None None	None
	View	hgcat_input_example-3	12	rs12582823 dbSNP Clinvar	551642	555.09	T	C	PASS	0/1	0	None	None	None	0.01158	0.01158					None None	None None None None	CCDC77\|0.055296478\|61.11%
	View	hgcat_input_example-3	12	rs371360438,rs566548845,rs371211844 dbSNP Clinvar	3049487	112.21	TA	T	PASS	0/1	0	None	None	None	0.29693	0.29690					None None	None None None None	TULP3\|0.05525804\|61.13%
	View	hgcat_input_example-3	12	rs60177044 dbSNP Clinvar	3392625	1457.1	A	G	PASS	0/1	0	None	None	None	0.15695	0.15690					None None	None None None None	TSPAN9\|0.258218975\|30.9%
	View	hgcat_input_example-3	12	rs12827449 dbSNP Clinvar	3393419	5532.86	C	T	PASS	0/1	0	None	None	None	0.49621	0.49620					None None	None None None None	TSPAN9\|0.258218975\|30.9%
	View	hgcat_input_example-3	12	rs71061134 dbSNP Clinvar	3918722	22933.1	A	AT	PASS	1/1	0	None	None	None	0.99980	0.99980					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs6489451 dbSNP Clinvar	3393503	1754.39	G	A	PASS	0/1	0	None	None	None	0.57548	0.57550					None None	None None None None	TSPAN9\|0.258218975\|30.9%
	View	hgcat_input_example-3	12	rs537938 dbSNP Clinvar	3394098	9267.53	T	C	PASS	0/1	0	None	None	None	0.44948	0.44950					None None	None None None None	TSPAN9\|0.258218975\|30.9%
	View	hgcat_input_example-3	12	rs4980907 dbSNP Clinvar	551295	11924.9	C	T	PASS	1/1	0	None	None	None	0.98303	0.98300					None None	None None None None	CCDC77\|0.055296478\|61.11%
	View	hgcat_input_example-3	12	rs887305 dbSNP Clinvar	3757253	2027.18	A	C	PASS	1/1	0	None	None	None	0.40895	0.40890					None None	None None None None	CRACR2A\|0.025184892\|71.72%
	View	hgcat_input_example-3	12	rs877554 dbSNP Clinvar	3757424	6911.75	A	T	PASS	1/1	0	None	None	None	0.67053	0.67050					None None	None None None None	CRACR2A\|0.025184892\|71.72%
	View	hgcat_input_example-3	12	rs887304 dbSNP Clinvar	3757548	5847.8	T	C	PASS	1/1	0	None	None	None	0.85943	0.85940					None None	None None None None	CRACR2A\|0.025184892\|71.72%
	View	hgcat_input_example-3	12	rs201709805 dbSNP Clinvar	3918188	59529.1	T	TT...	PASS	1/1	0	None	None	None	0.14377	0.14380					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs758799 dbSNP Clinvar	3918300	12335.5	G	T	PASS	1/1	0	None	None	None	0.13998	0.14000					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs700481 dbSNP Clinvar	3918475	13751.4	G	A	PASS	1/1	0	None	None	None	0.64038	0.64040					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs3079895 dbSNP Clinvar	3918520	11788.3	TAA	T	PASS	1/1	0	None	None	None	0.13958	0.13960					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs1860617 dbSNP Clinvar	3918872	19485.6	C	A	PASS	1/1	0	None	None	None	0.37939	0.37940					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs12424076 dbSNP Clinvar	3919669	2502.27	T	C	PASS	1/1	0	None	None	None	0.13958	0.13960					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs11612988 dbSNP Clinvar	3920052	1761.4	G	C	PASS	1/1	0	None	None	None	0.13978	0.13980					None None	None None None None	PARP11\|0.200342283\|36.73%
	View	hgcat_input_example-3	12	rs1049606 dbSNP Clinvar	4383036	5384.57	C	T	PASS	1/1	0	None	None	None	0.58606	0.58610					None None	None None None None	CCND2\|0.94794487\|2.32%

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FREQUENCIES

SCORES

+ Genes 19

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AKAP3

B4GALNT3

C12orf5

CACNA1C

CACNA2D4

CCDC77

DCP1B

EFCAB4B

FBXL14

FGF6

FOXM1

GALNT8

IQSEC3

KCNA6

KDM5A

RAD51AP1

RAD52

SLC6A12

WNK1

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