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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:
C19orf33, CCDC33, DENND4B, FBXL21, FNBP4, IGSF9, KRTAP4-7, LRRC17, MAML3, MAP3K1, MAP7D1, MSH3, NINL, PIEZO1, PIK3C2G, PILRB, PLK5, PRSS3, TDRD3, THAP11, TNRC6B, TP53TG5, USP20, WDR81, ZNF283, ZNF284,

+ Genes associated with diseases 4

Genes at Omim

MAP3K1, MSH3, PIEZO1, WDR81,

MAP3K1	46XY sex reversal 6, 613762 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)

Genes at Clinical Genomics Database

MAP3K1, MSH3, PIEZO1, WDR81,

MAP3K1	46,XY sex reversal 6
MSH3	Endometrial carcinoma
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 28
Number of Genes: 26

Export to: CSV

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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	sp16_961	19	rs201974576 dbSNP Clinvar	38795580	33.1114	CAAG	C	PASS	0/1	60	CODON_DELETION	MODERATE	None	0.02736	0.02736	0.04169				None None	None None None None	C19orf33\|0.001107009\|94.9%
	View	sp16_961	19	rs765192304 dbSNP Clinvar	38795565	10.0	CA...	C	PASS	0/1	61	CODON_DELETION	MODERATE	None							None None	None None None None	C19orf33\|0.001107009\|94.9%
	View	sp16_961	19	rs139805446 dbSNP Clinvar	38795546	54.6958	TGAA	T	PASS	0/1	61	CODON_DELETION	MODERATE	None	0.15395	0.15400	0.13221				None None	None None None None	C19orf33\|0.001107009\|94.9%
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	sp16_961	15	rs10552820,rs35899977,rs397774110 dbSNP Clinvar	74536400	805.429	TAAG	T	PASS	1/1	138	CODON_DELETION	MODERATE	None	0.37700	0.37700	0.46150				None None	None None None None	CCDC33\|0.011870787\|79.31%
DENND4B
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	.	153907278	281.618	CC...	CC...	PASS	0/1	96	CODON_DELETION	MODERATE	None							None None	None None None None	DENND4B\|0.160276064\|41.5%
FBXL21
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	rs1160982,rs568134250 dbSNP Clinvar	135276201	505.087	AGTT	A	PASS	1/1	87	CODON_DELETION	MODERATE	None	0.73423	0.73420	0.30509				None None	None None None None	LECT2\|0.064888014\|58.67%
FNBP4
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	rs67450550,rs397711020 dbSNP Clinvar	47788663	27.3736	CG...	C	PASS	0/1	32	CODON_DELETION	MODERATE	None	0.34385	0.34380	0.28457				None None	None None None None	FNBP4\|0.128911104\|46.04%
IGSF9
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	rs374964822 dbSNP Clinvar	159898192	59.5742	AA...	A	PASS	0/1	59	CODON_DELETION	MODERATE	None	0.00679	0.00679					None None	None None None None	IGSF9\|0.062403105\|59.21%
KRTAP4-7
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	rs553572799 dbSNP Clinvar	39240781	25.0	CC...	C	PASS	0/1	132	CODON_DELETION	MODERATE	None	0.03375	0.03375	0.07334				None None	None None None None	KRTAP4-7\|0.005884004\|84.72%
LRRC17
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	rs3832497,rs531650613 dbSNP Clinvar	102574999	24.5414	TGAA	T	PASS	0/1	44	CODON_DELETION	MODERATE	None	0.63179	0.63180	0.25633				None None	None None None None	FBXL13\|0.013552601\|78.17%,LRRC17\|0.102449665\|50.7%
MAML3
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	rs5862430,rs758674725,rs397881377,rs3051167 dbSNP Clinvar	140651584	224.736	TCTG	T	PASS	1/1	41	CODON_DELETION	MODERATE	None	0.99101	0.99100					None None	None None None None	MGST2\|0.034049931\|67.77%,MAML3\|0.444017284\|18.48%
MAP3K1
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	rs5868032,rs869174877,rs869264361,rs10552703,rs398064829 dbSNP Clinvar	56177848	236.893	TCAA	T	PASS	1/1	41	CODON_DELETION	MODERATE	None							None None	None None None None	MAP3K1\|0.554683454\|13.53%
MAP7D1
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	rs141305015,rs3045695 dbSNP Clinvar	36643700	21.781	GAGA	G	PASS	0/1	46	CODON_DELETION	MODERATE	None	0.06450	0.06450	0.03988				None None	None None None None	MAP7D1\|0.14888564\|43.16%
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	rs144629981,rs3045983 dbSNP Clinvar	79950741	146.796	GC...	G	PASS	1/1	48	CODON_DELETION	MODERATE	None	0.23443	0.23440	0.30955				None None	None None None None	DHFR\|0.849258328\|4.67%,MSH3\|0.44757189\|18.27%
NINL
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	rs68078266,rs34410422 dbSNP Clinvar	25457049	307.871	GC...	G	PASS	1/1	53	CODON_DELETION	MODERATE	None	0.55731	0.55730	0.42148				None None	None None None None	NINL\|0.010538639\|80.48%
PIEZO1
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	rs150376294,rs750038587,rs3217718 dbSNP Clinvar	88787607	21.4322	CCTT	C	PASS	0/1	56	CODON_DELETION	MODERATE	None	0.21586	0.21590	0.28015				None None	None None None None	PIEZO1\|0.03248512\|68.39%
PIK3C2G
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	rs35277916,rs796435817 dbSNP Clinvar	18435398	48.0679	GCCC	G	PASS	0/1	110	CODON_DELETION	MODERATE	None	0.30831	0.30830	0.34238				None None	None None None None	RERGL\|0.064599802\|58.71%,PIK3C2G\|0.036855769\|66.84%
PILRB
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	rs5886120,rs397890520 dbSNP Clinvar	99957128	22.051	GCCT	G	PASS	0/1	14	CODON_DELETION	MODERATE	None	0.10483	0.10480	0.17325				None None	None None None None	PILRB\|0.000656849\|97.49%
PLK5
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	rs58035688,rs796379895 dbSNP Clinvar	1535193	394.057	GCCC	G	PASS	1/1	72	CODON_DELETION	MODERATE	None	0.45867	0.45870					None None	None None None None	PLK5\|0.003429971\|87.9%
PRSS3
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	rs143332708,rs3831310 dbSNP Clinvar	33796690	858.452	TGAG	T	PASS	1/1	149	CODON_DELETION	MODERATE	None	0.13898	0.13900	0.13668				None None	None None None None	PRSS3\|0.009331176\|81.43%
TDRD3
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	13	rs148917045,rs75684327 dbSNP Clinvar	61102575	34.3346	GATA	G	PASS	0/1	65	CODON_DELETION	MODERATE	None	0.12061	0.12060	0.14451				None None	None None None None	TDRD3\|0.391554966\|21.3%
THAP11
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	rs377516180 dbSNP Clinvar	67876823	314.824	ACAG	A,...	PASS	0/1	77	CODON_DELETION	MODERATE	None							None None	None None None None	CENPT\|0.023116671\|72.61%,THAP11\|0.375340768\|22.39%
TNRC6B
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	rs10617561,rs66700157,rs139908 dbSNP Clinvar	40697176	104.933	TGCA	T	PASS	0/1	107	CODON_DELETION	MODERATE	None	0.25739	0.25740					None None	None None None None	TNRC6B\|0.807696268\|5.62%
TP53TG5
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	rs10546815,rs562359566 dbSNP Clinvar	44004155	603.941	CATT	C	PASS	1/1	104	CODON_DELETION	MODERATE	None	0.38658	0.38660	0.48961				None None	None None None None	SYS1\|0.552810093\|13.61%,TP53TG5\|0.004045663\|86.94%
USP20
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	rs10602985,rs760862530,rs398096692 dbSNP Clinvar	132630664	409.234	TGAC	T	PASS	1/1	87	CODON_DELETION	MODERATE	None	0.84864	0.84860	0.19048				None None	None None None None	USP20\|0.195223584\|37.23%
WDR81
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	rs35048651,rs577690948 dbSNP Clinvar	1631340	97.3172	TGAG	T	PASS	1/1	16	CODON_DELETION	MODERATE	None	0.21186	0.21190	0.18584				None None	None None None None	WDR81\|0.133896381\|45.31%
ZNF283
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	rs79626467,rs71907168 dbSNP Clinvar	44351166	33.9812	GG...	G	PASS	0/1	91	CODON_DELETION	MODERATE	None	0.38778	0.38780	0.38758				None None	None None None None	ZNF283\|0.014136174\|77.77%
ZNF284
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	rs139900131,rs369411341 dbSNP Clinvar	44589999	518.707	TCTC	T	PASS	1/1	88	CODON_DELETION	MODERATE	None	0.45088	0.45090	0.44731				None None	None None None None	ZNF284\|0.000961429\|95.72%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 26

+ Genes associated with diseases 4

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

C19orf33

CCDC33

DENND4B

FBXL21

FNBP4

IGSF9

KRTAP4-7

LRRC17

MAML3

MAP3K1

MAP7D1

MSH3

NINL

PIEZO1

PIK3C2G

PILRB

PLK5

PRSS3

TDRD3

THAP11

TNRC6B

TP53TG5

USP20

WDR81

ZNF283

ZNF284

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