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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:
ANKDD1B, ARSD, AXDND1, C11orf21, C2orf83, C5orf20, C5orf38, C9orf43, CASP12, CCDC144NL, CLDN5, COL6A5, CRYGA, CTBP2, CYP2D7P, DRC1, FAM187B, FXYD3, GOLGA6L6, GXYLT1, HAPLN3, HPS4, IFNA10, IFNE, IGHV4OR15-8, IL17RB, KRTAP1-1, LCN10, LILRA1, MAGEE2, MAP2K3, MOB3C, MS4A12, MUC19, MUC3A, NCOR1, NIN, NPDC1, NPIPB15, NUDT7, OR10D3, OR10J1, OR1B1, OR2L8, OR4C16, OR4C3, OR4X1, OR51I1, OR51Q1, OR5AR1, PDE4DIP, PKD1L2, PRAMEF1, PRAMEF2, PRIM2, SAMD9, SLC22A10, SLC22A24, SLC35G6, SLC6A18, STARD6, TCP10L2, TCP11L1, TRIM6-TRIM34, TTC28, UBE2NL, USP29, ZACN, ZAN, ZNF117, ZNF717,

+ Genes associated with diseases 5

Genes at Omim

CASP12, DRC1, HPS4, NIN, SAMD9,

CASP12	{Sepsis, susceptibility to} (3)
DRC1	Ciliary dyskinesia, primary, 21, 615294 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
NIN	?Seckel syndrome 7, 614851 (3)
SAMD9	MIRAGE syndrome, 617053 (3) Tumoral calcinosis, familial, normophosphatemic, 610455 (3)

Genes at Clinical Genomics Database

HPS4, NIN, SAMD9,

HPS4	Hermansky-Pudlak syndrome 4
NIN	Seckel syndrome 7
SAMD9	Tumoral calcinosis, normophosphatemic

Genes at HGMD

Summary

Number of Variants: 78
Number of Genes: 71

Export to: CSV

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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	s75952_filtered_snps_and_indels	5	rs34358 dbSNP Clinvar	74965122	2109.77	G	A	PASS	1/1	66	STOP_GAINED	HIGH	NONSENSE	0.50699	0.50700					None None	None None None None	ANKDD1B\|0.036539802\|66.95%
ARSD
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	s75952_filtered_snps_and_indels	X	rs111939179 dbSNP Clinvar	2833605	565.77	C	T	PASS	0/1	62	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	ARSD\|0.001611053\|92.29%
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	s75952_filtered_snps_and_indels	1	rs144482791 dbSNP Clinvar	179504070	114.77	G	T	PASS	0/1	5	STOP_GAINED	HIGH	NONSENSE	0.00998	0.00998	0.00024				None None	None None None None	AXDND1\|0.018165173\|75.2%
C11orf21
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	s75952_filtered_snps_and_indels	11	rs74048215 dbSNP Clinvar	2321829	1473.77	C	T	PASS	0/1	118	STOP_GAINED	HIGH	NONSENSE	0.01777	0.01777	0.01511				None None	None None None None	C11orf21\|0.000478003\|98.55%
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	s75952_filtered_snps_and_indels	2	rs2176186 dbSNP Clinvar	228476140	1054.77	C	T	PASS	0/1	115	STOP_GAINED	HIGH	NONSENSE	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	s75952_filtered_snps_and_indels	5	rs12520799 dbSNP Clinvar	134782450	1747.77	T	A	PASS	0/1	148	STOP_GAINED	HIGH	NONSENSE	0.64517	0.64520	0.40151				None None	None None None None	DCANP1\|0.000625841\|97.73%,TIFAB\|0.012847206\|78.59%
C5orf38
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	s75952_filtered_snps_and_indels	5	rs62333235 dbSNP Clinvar	2755485	262.77	C	T	PASS	0/1	43	STOP_GAINED	HIGH	NONSENSE	0.29673	0.29670					None None	None None None None	C5orf38\|0.009040618\|81.62%
C9orf43
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	s75952_filtered_snps_and_indels	9	rs779425987 dbSNP Clinvar	116187635	315.77	C	T	PASS	0/1	36	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	C9orf43\|0.002847419\|88.94%
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	s75952_filtered_snps_and_indels	11	rs497116 dbSNP Clinvar	104763117	1040.77	G	A	PASS	1/1	37	STOP_GAINED	HIGH	NONSENSE	0.94848	0.94850					None None	None None None None	CASP12\|0.001761043\|91.65%
CCDC144NL
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	s75952_filtered_snps_and_indels	17	rs79930314 dbSNP Clinvar	20769899	8849.77	G	T	PASS	0/1	317	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	CCDC144NL\|0.000779475\|96.79%