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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

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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:
AAK1, ALPK2, ANKRD31, ANP32E, APOBEC3H, ASPN, ATAD2, ATF7IP2, CACNA1A, CD3EAP, CEP68, CLCA4, DEFB132, DMKN, FAM71E2, FNDC1, GGNBP2, GIGYF2, HAVCR1, IST1, ITPKB, KANK3, KLF17, KLRF1, KRTAP10-10, MRPL18, MSH3, MYH4, NCOA3, NPVF, OR14A16, OR2A14, OR5H6, PCDHB10, PCDHGB4, POLI, PRUNE2, PTCD3, RIC8A, RIN3, SLC38A10, SLC39A14, SYNPO2, TRIM52, TRIOBP, UBAC1, URI1, VEGFC, ZNF2,

+ Genes associated with diseases 7

Genes at Omim

ASPN, CACNA1A, GIGYF2, MSH3, SLC39A14, TRIOBP, VEGFC,

ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
SLC39A14	Hypermanganesemia with dystonia 2, 617013 (3) ?Hyperostosis cranalis interna, 144755 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)

Genes at Clinical Genomics Database

CACNA1A, GIGYF2, MSH3, TRIOBP, VEGFC,

CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
GIGYF2	Parkinson disease, autosomal dominant, 11
MSH3	Endometrial carcinoma
TRIOBP	Deafness, autosomal recessive 28
VEGFC	Lymphedema, hereditary, ID

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 49

Export to: CSV

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AAK1
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	sp16_961	2	rs3832159,rs66931661 dbSNP Clinvar	69741753	586.298	CTGT	C	PASS	1/1	112	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35583	0.35580	0.34251				None None	None None None None	AAK1\|0.297965723\|27.81%
ALPK2
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	sp16_961	18	rs67925233 dbSNP Clinvar	56204387	21.3806	AC...	A	PASS	0/1	63	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD31
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	sp16_961	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	121.842	TTCA	T	PASS	0/1	158	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
ANP32E
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	sp16_961	1	rs68136184,rs56692627 dbSNP Clinvar	150199039	199.586	CT...	C	PASS	1/1	38	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35064	0.35060	0.20257				None None	None None None None	ANP32E\|0.463617374\|17.49%
APOBEC3H
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	sp16_961	22	rs140936762,rs201177427,rs139292 dbSNP Clinvar	39496322	53.2743	TAAC	T	PASS	0/1	67	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31749	0.31750	0.32481				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
ASPN
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	sp16_961	9	rs878929025,rs397838876,rs557103556 dbSNP Clinvar	95237024	341.078	CTCA	C	PASS	1/1	63	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
ATAD2
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	sp16_961	8	rs757527760 dbSNP Clinvar	124382158	50.3845	TT...	T	PASS	0/1	40	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	ATAD2\|0.385074539\|21.71%
ATF7IP2
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	sp16_961	16	rs56252625,rs113642662,rs571414967 dbSNP Clinvar	10524656	34.1369	GGAC	G	PASS	0/1	116	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.60324	0.60320	0.41109				None None	None None None None	ATF7IP2\|0.022985481\|72.74%
CACNA1A
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	sp16_961	19	rs749638821 dbSNP Clinvar	13319691	87.3307	GGAT	G,...	PASS	1/2	10	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	CACNA1A\|0.210424701\|35.52%
CD3EAP
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	sp16_961	19	rs35729377,rs374686338 dbSNP Clinvar	45912489	50.231	CAAG	C	PASS	0/1	38	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	CD3EAP\|0.001466541\|92.96%,ERCC1\|0.17437384\|39.74%
CEP68
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	sp16_961	2	rs147392467 dbSNP Clinvar	65298646	854.909	GAAC	G	PASS	1/1	145	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.07408	0.07408	0.11110				None None	None None None None	CEP68\|0.00693315\|83.58%,RAB1A\|0.906392493\|3.32%
CLCA4
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	sp16_961	1	rs4001061,rs77067122 dbSNP Clinvar	87045896	699.22	TC...	T,...	PASS	1/2	76	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.70707	0.70710					None None	None None None None	CLCA4\|0.011259868\|79.82%
	View	sp16_961	1	rs772880712 dbSNP Clinvar	87045895	50.0	AT...	A	PASS	0/1	147	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	CLCA4\|0.011259868\|79.82%
DEFB132
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	sp16_961	20	rs66489228,rs371825938 dbSNP Clinvar	238435	37.8675	CT...	C	PASS	0/1	76	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.39134				None None	None None None None	DEFB132\|0.000181489\|99.81%
DMKN
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	sp16_961	19	rs56743379 dbSNP Clinvar	36002361	121.694	AC...	A	PASS	1/1	28	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.19853				None None	None None None None	DMKN\|0.003521347\|87.74%
FAM71E2
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	sp16_961	19	rs67168196,rs67988285 dbSNP Clinvar	55869879	50.0	GG...	G	PASS	0/1	94	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.87560	0.87560	0.17410				None None	None None None None	FAM71E2\|0.000423071\|98.82%
FNDC1
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	sp16_961	6	rs141435210,rs3842694 dbSNP Clinvar	159660779	73.6933	GC...	G	PASS	1/1	12	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.49641	0.49640	0.19309				None None	None None None None	FNDC1\|0.018012645\|75.28%
GGNBP2
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	sp16_961	17	.	34942586	414.88	AA...	AA...	PASS	1/2	63	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	GGNBP2\|0.62459578\|10.96%
GIGYF2
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	sp16_961	2	rs10555297 dbSNP Clinvar	233712226	333.683	CACA	C	PASS	1/1	53	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.55911	0.55910					None None	None None None None	GIGYF2\|0.544298923\|14.01%
HAVCR1
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	sp16_961	5	rs45439103,rs398065342 dbSNP Clinvar	156479443	318.698	CTTG	C	PASS	1/1	54	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.24381	0.24380	0.24190				None None	None None None None	HAVCR1\|0.00064813\|97.55%
IST1
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	sp16_961	16	rs549750934,rs372825060 dbSNP Clinvar	71956511	46.4034	AA...	A	PASS	0/1	127	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.03574	0.27960					None None	None None None None	IST1\|0.589563017\|12.15%
ITPKB
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	sp16_961	1	rs147889095 dbSNP Clinvar	226924875	442.695	AC...	A	PASS	1/1	96	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.28195	0.28190	0.20633				None None	None None None None	ITPKB\|0.025486476\|71.57%
KANK3
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	sp16_961	19	rs111905975,rs367746100 dbSNP Clinvar	8389892	69.7625	GTCC	G	PASS	0/1	121	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.15375	0.15380	0.17423				None None	None None None None	KANK3\|0.009331751\|81.43%
KLF17
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	sp16_961	1	rs34057178,rs200059598 dbSNP Clinvar	44596379	470.379	CCAA	C	PASS	1/1	131	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.23023	0.23020	0.16158				None None	None None None None	KLF17\|0.003119106\|88.45%
KLRF1
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	sp16_961	12	rs33911869,rs60498737,rs543781017 dbSNP Clinvar	9994445	318.698	GTGT	G	PASS	1/1	54	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.99421	0.99420					None None	None None None None	KLRF1\|0.004177647\|86.78%
KRTAP10-10
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	sp16_961	21	rs66931310,rs56249559 dbSNP Clinvar	46057612	84.429	CC...	C,...	PASS	0/1	47	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.49780	0.49780	0.44800				None None	None None None None	TSPEAR\|0.035753201\|67.21%,KRTAP10-10\|0.003474223\|87.81%
MRPL18
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	sp16_961	6	rs58504486,rs796468076 dbSNP Clinvar	160211645	32.0551	GGTT	G	PASS	0/1	61	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.66514	0.66510	0.32806				None None	None None None None	MRPL18\|0.107055217\|49.79%
MSH3
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	sp16_961	5	rs201874762 dbSNP Clinvar	79950699	170.653	TG...	T	PASS	1/1	52	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.27915				None None	None None None None	DHFR\|0.849258328\|4.67%,MSH3\|0.44757189\|18.27%
MYH4
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	sp16_961	17	rs762945705 dbSNP Clinvar	10362617	73.7672	AA...	A	PASS	0/1	67	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	MYH4\|0.262019908\|30.56%
NCOA3
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	sp16_961	20	rs147879509,rs3830809,rs397778717 dbSNP Clinvar	46279836	93.2758	ACAG	A	PASS	0/1	105	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.42097				None None	None None None None	NCOA3\|0.49257506\|16.22%
NPVF
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	sp16_961	7	rs3216928 dbSNP Clinvar	25266569	30.097	TTAA	T	PASS	0/1	36	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.14637	0.14640	0.13931				None None	None None None None	NPVF\|0.025236531\|71.69%
OR14A16
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	sp16_961	1	rs35979231,rs375198428 dbSNP Clinvar	247978541	431.428	AAGG	A	PASS	1/1	72	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.72065	0.72060	0.31590				None None	None None None None	OR14A16\|0.000324308\|99.33%
OR2A14
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	sp16_961	7	rs66549240,rs34602346 dbSNP Clinvar	143826729	44.0205	ACTT	A	PASS	0/1	95	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.57847	0.57850	0.49941				None None	None None None None	OR2A14\|0.009019634\|81.65%
OR5H6
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	sp16_961	3	rs74203917,rs398062605 dbSNP Clinvar	97983487	53.2658	TT...	T	PASS	0/1	160	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31709	0.31710	0.43239				None None	None None None None	OR5H6\|0.001976143\|91.06%
PCDHB10
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	sp16_961	5	rs140613424,rs58244182 dbSNP Clinvar	140574169	50.0	CA...	C	PASS	0/1	89	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.00040	0.42410	0.21390				None None	None None None None	PCDHB10\|0.007127906\|83.37%
PCDHGB4
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	sp16_961	5	rs554190431 dbSNP Clinvar	140768995	172.287	AG...	A	PASS	1/1	29	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.00080	0.00080	0.00119				None None	None None None None	PCDHGA1\|0.030759318\|69.07%,PCDHGA2\|0.042092454\|65.09%,PCDHGA3\|0.101214599\|50.92%,PCDHGB1\|0.091189497\|53%,PCDHGA4\|0.259858132\|30.74%,PCDHGB2\|0.26790988\|30.04%,PCDHGA5\|0.123504071\|46.89%,PCDHGB3\|0.042137025\|65.05%,PCDHGA6\|0.071224281\|57.18%,PCDHGA7\|0.140897453\|44.28%,PCDHGB4\|0.177720199\|39.34%
POLI
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	sp16_961	18	rs10584411,rs763063557,rs3729509 dbSNP Clinvar	51795957	263.235	GCGA	G	PASS	1/1	47	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.78395	0.78390	0.23883				None None	None None None None	POLI\|0.500737847\|15.78%
PRUNE2
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	sp16_961	9	rs11267615,rs376038487 dbSNP Clinvar	79318375	725.448	GG...	G	PASS	1/1	126	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.78435	0.78430					None None	None None None None	PRUNE2\|0.26380863\|30.4%
PTCD3
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	sp16_961	2	rs569250437 dbSNP Clinvar	86364621	57.623	CC...	C	PASS	0/1	48	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.00120	0.00120					None None	None None None None	PTCD3\|0.046279817\|63.82%
RIC8A
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	sp16_961	11	rs3832797 dbSNP Clinvar	209894	27.2514	ACCC	A	PASS	0/1	86	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.41394	0.41390	0.32010				None None	None None None None	RIC8A\|0.023059268\|72.67%
RIN3
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	sp16_961	14	rs71698059,rs68153141,rs570458246 dbSNP Clinvar	93154537	89.0765	TGGC	T	PASS	1/1	19	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.29220				None None	None None None None	RIN3\|0.02491419\|71.85%
SLC38A10
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	sp16_961	17	rs10569617,rs757389644,rs3833102 dbSNP Clinvar	79219500	25.0265	AATG	A	PASS	0/1	60	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.42213	0.42210	0.33129				None None	None None None None	SLC38A10\|0.006623599\|83.93%
SLC39A14
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	sp16_961	8	rs111662782,rs3052256 dbSNP Clinvar	22262228	127.24	AG...	A	PASS	1/1	26	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31769	0.31770	0.31092				None None	None None None None	SLC39A14\|0.028917008\|69.91%
SYNPO2
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	sp16_961	4	rs70944826 dbSNP Clinvar	119947961	316.073	AAAG	A	PASS	1/1	56	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35543	0.35540	0.33762				None None	None None None None	SYNPO2\|0.031366723\|68.85%
TRIM52
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	sp16_961	5	rs33972170,rs200454506,rs3073543 dbSNP Clinvar	180687428	83.4556	CTCT	C	PASS	0/1	133	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.49161	0.49160					None None	None None None None	TRIM52\|0.003462758\|87.82%
TRIOBP
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	sp16_961	22	rs55745992 dbSNP Clinvar	38119754	41.7335	TCAA	T	PASS	0/1	74	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.33626	0.33630	0.35319				None None	None None None None	TRIOBP\|0.083019472\|54.57%
UBAC1
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	sp16_961	9	rs140946801,rs66767056 dbSNP Clinvar	138836941	81.1426	GCCT	G	PASS	0/1	101	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.16993	0.16990	0.20530				None None	None None None None	UBAC1\|0.040909799\|65.45%
URI1
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	sp16_961	19	.	30500118	793.389	GT...	GT...	PASS	1/1	83	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	URI1\|0.584128521\|12.4%
VEGFC
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	sp16_961	4	rs5864401,rs3062984,rs397710947 dbSNP Clinvar	177605081	204.305	CTCA	C	PASS	1/1	35	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.99701	0.99700	0.00436				None None	None None None None	VEGFC\|0.797301973\|5.92%
ZNF2
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	sp16_961	2	rs10578519,rs397802135 dbSNP Clinvar	95847040	497.922	TGCG	T	PASS	1/1	84	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.99701	0.99700	0.00895				None None	None None None None	ZNF2\|0.021724179\|73.31%