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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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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:
ANAPC1, ANKRD36, BCLAF1, C17orf77, C19orf10, C5orf20, C5orf38, C8orf49, CAPN8, CASP12, CCDC144NL, CDC27, CLEC7A, CLYBL, CPN2, CSAG1, CYP2A6, DBI, DNAH11, DPEP2, EGR4, EML3, FCGR1A, FER1L6, FUT2, GAB4, GLIPR1, GOLGA6L6, H2BFM, HLA-B, HMGCLL1, IDI2, KRT37, KRTAP10-6, LCN10, LGALS8, LINC00955, MAGEE2, MAP2K3, MOB3C, MS4A12, MTCH2, MYO1D, NBPF9, NCOR1, NOTCH2NL, OR10X1, OR1B1, OR2L8, OR4C3, OR4P4, OR51Q1, OR5AR1, P4HA3, PABPC1, PABPC3, PCMTD1, PDE4DIP, PKD1L2, PRAMEF1, PRB4, PRIM2, PRSS1, RP11-1407O15.2, SDR42E1, SIGLEC12, SKA3, SLC22A10, SLC22A24, SLC35G6, SLC6A18, SLC9B1, STARD6, TMEM232, TMEM239, TPTE, TTC28, TTC4, UBE2NL, USP29, VWA8, ZC3H3, ZNF117, ZNF717,

+ Genes associated with diseases 8

Genes at Omim

CASP12, CLEC7A, CYP2A6, DNAH11, FCGR1A, FUT2, HLA-B, PRSS1,

CASP12	{Sepsis, susceptibility to} (3)
CLEC7A	Candidiasis, familial, 4, autosomal recessive, 613108 (3) {Aspergillosis, susceptibility to}, 614079 (3)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FCGR1A	[IgG receptor I, phagocytic, familial deficiency of] (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)

Genes at Clinical Genomics Database

CLEC7A, CYP2A6, DNAH11, HLA-B, PRSS1,

CLEC7A	Candidiasis, familial, 4
CYP2A6	CYP2A6-related drug metabolism
DNAH11	Ciliary dyskinesia, primary, 7
HLA-B	Drug-induced toxicity, susceptibility to
PRSS1	Pancreatitis, hereditary

Genes at HGMD

Summary

Number of Variants: 88
Number of Genes: 84

Export to: CSV

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ANAPC1
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	2	rs72936240 dbSNP Clinvar	112614429	2321.92	G	A	PASS	0/1	220	STOP_GAINED	HIGH	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
ANKRD36
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	2	.	97851077	575.92	C	G	PASS	0/1	51	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
BCLAF1
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	6	rs61731960 dbSNP Clinvar	136597456	862.16	C	A	PASS	1\|0	107	STOP_GAINED	HIGH	None			0.00438				None None	None None None None	BCLAF1\|0.862204176\|4.44%
C17orf77
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	17	rs545652 dbSNP Clinvar	72588806	1499.16	C	A	PASS	1\|0	139	STOP_GAINED	HIGH	None	0.22364	0.22360	0.26557				None None	None None None None	C17orf77\|0.000167879\|99.83%
C19orf10
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	19	rs72620522 dbSNP Clinvar	4659924	1544.16	C	T	PASS	0\|1	58	STOP_GAINED	HIGH	None	0.08127	0.08127	0.08704				None None	None None None None	MYDGF\|0.015950442\|76.5%
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	5	rs12520799 dbSNP Clinvar	134782450	4607.13	T	A	PASS	1\|1	66	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%
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	5	rs62333235 dbSNP Clinvar	2755485	2704.9	C	T	PASS	0\|1	65	STOP_GAINED	HIGH	None	0.29673	0.29670					None None	None None None None	C5orf38\|0.009040618\|81.62%
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	8	rs809203 dbSNP Clinvar	11619504	8821.9	T	A	PASS	1\|1	130	STOP_GAINED	HIGH	None	0.25140	0.25140					None None	None None None None	C8orf49\|0.001687308\|91.93%
CAPN8
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	1	rs34606532 dbSNP Clinvar	223722780	2319.16	G	A	PASS	0\|1	94	STOP_GAINED	HIGH	None	0.44349	0.44350	0.45642				None None	None None None None	CAPN8\|0.042652474\|64.89%
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob	11	rs497116 dbSNP Clinvar	104763117	6931.9	G	A	PASS	1\|1	89	STOP_GAINED	HIGH	None	0.94848	0.94850					None None	None None None None	CASP12\|0.001761043\|91.65%