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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:
AC079612.1, ANKDD1B, ANKRD36C, ARMS2, C17orf107, C2orf83, C5orf20, C8orf49, CASP12, CNTN5, CPN2, CYP2D7P, DNAH11, DYX1C1, EFCAB13, FBN3, FUT2, GAB4, HAPLN3, HPS4, IFNA10, IGHV6-1, IGLV5-48, KRTAP13-2, LACTBL1, LINC00955, MAGEB16, MAP2K3, MS4A12, MUC19, MUC3A, NCOR1, NDUFB9, NPDC1, OR10D3, OR10J1, OR10X1, OR2L8, OR4C3, OR4C5, OR4P4, OR4X1, OR52N4, OR5AR1, OR6C74, P4HA3, PABPC3, PDE4DIP, PKD1L2, PMM1, PRIM2, PSG1, RP11-1407O15.2, SKA3, SLC22A10, SLC22A24, SLC25A5, SLC6A18, SYT8, TRBV6-8, TRPM1, TTC4, UBE2NL, USP29, ZACN, ZNF117, ZNF790, ZNF80,

+ Genes associated with diseases 6

Genes at Omim

CASP12, DNAH11, FUT2, HPS4, NDUFB9, TRPM1,

CASP12	{Sepsis, susceptibility to} (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
NDUFB9	?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)

Genes at Clinical Genomics Database

DNAH11, DYX1C1, HPS4, TRPM1,

DNAH11	Ciliary dyskinesia, primary, 7
DYX1C1	Ciliary dyskinesia, primary 25
HPS4	Hermansky-Pudlak syndrome 4
TRPM1	Night blindness, congenital stationary, type 1C

Genes at HGMD

Summary

Number of Variants: 75
Number of Genes: 68

Export to: CSV

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AC079612.1
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	snps raw-variants selected 3405_16	2	rs59626274 dbSNP Clinvar	240500249	1719.9	C	T	PASS	0/1	87	STOP_GAINED	HIGH	None	0.07268	0.07268	0.08432				None None	None None None None	None
ANKDD1B
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	snps raw-variants selected 3405_16	5	rs34358 dbSNP Clinvar	74965122	2722.94	G	A	PASS	0/1	65	STOP_GAINED	HIGH	None	0.50699	0.50700					None None	None None None None	ANKDD1B\|0.036539802\|66.95%
ANKRD36C
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	snps raw-variants selected 3405_16	2	rs74941794 dbSNP Clinvar	96525771	8889.94	A	C	PASS	0/1	199	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD36C\|0.001406745\|93.3%
ARMS2
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	snps raw-variants selected 3405_16	10	rs2736911 dbSNP Clinvar	124214355	2073.9	C	T	PASS	0/1	66	STOP_GAINED	HIGH	None	0.11442	0.11440	0.12546				None None	None None None None	ARMS2\|0.000659964\|97.48%
C17orf107
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	snps raw-variants selected 3405_16	17	rs35400274 dbSNP Clinvar	4803711	1263.9	G	A	PASS	0/1	50	STOP_GAINED	HIGH	None	0.22165	0.22160	0.20543				None None	None None None None	CHRNE\|0.06756335\|57.98%,C17orf107\|0.01484237\|77.26%
C2orf83
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	snps raw-variants selected 3405_16	2	rs2176186 dbSNP Clinvar	228476140	4323.9	C	T	PASS	0/1	64	STOP_GAINED	HIGH	None	0.31390	0.31390	0.28079				None None	None None None None	C2orf83\|0.001157033\|94.67%
C5orf20
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	snps raw-variants selected 3405_16	5	rs12520799 dbSNP Clinvar	134782450	4719.9	T	A	PASS	0/1	87	STOP_GAINED	HIGH	None	0.64517	0.64520	0.40151				None None	None None None None	DCANP1\|0.000625841\|97.73%,TIFAB\|0.012847206\|78.59%
C8orf49
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	snps raw-variants selected 3405_16	8	rs809203 dbSNP Clinvar	11619504	6217.9	T	A	PASS	1/1	85	STOP_GAINED	HIGH	None	0.25140	0.25140					None None	None None None None	C8orf49\|0.001687308\|91.93%
CASP12
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	snps raw-variants selected 3405_16	11	rs497116 dbSNP Clinvar	104763117	13392.3	G	A	PASS	1/1	120	STOP_GAINED	HIGH	None	0.94848	0.94850					None None	None None None None	CASP12\|0.001761043\|91.65%
CNTN5
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	snps raw-variants selected 3405_16	11	rs12292659 dbSNP Clinvar	99690376	2250.9	C	T	PASS	0/1	93	STOP_GAINED	HIGH	None			0.23515				None None	None None None None	CNTN5\|0.790800052\|6.1%