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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:
ABCC12, ACSM4, ADH4, ANKRD36, ANKRD36C, C5orf20, C5orf38, CASP12, CCDC144NL, CLDN5, CNTN5, CPN2, DAP, EML3, FAM187B, FAM81B, FCGR2A, FLG2, FRG1B, FUT6, GAB4, GLIPR1, GXYLT1, HLA-DQB1, KHDC1, KIAA1755, KRTAP10-6, KRTAP4-8, LINC00955, MAGEB16, MAP2K3, MOB3C, MS4A12, MUC19, MUC3A, NOTCH2NL, NPDC1, OR10J1, OR10X1, OR2L8, OR4C16, OR4C3, OR4C5, OR4X1, OR51I1, OR51Q1, OR5AR1, OR6C74, OR8K3, PCMTD1, PDE4DIP, PKD1L2, PLA2G2C, PRB4, PRIM2, PVRIG, RP11-1407O15.2, SDR42E1, SLC22A10, SLC22A24, SLC25A5, SLC35G6, SLC6A18, SLC9B1, SLFN13, SPERT, TANGO2, TCP11L1, TRBV10-1, TRBV3-1, TRGV11, TRPM1, TTC28, TTC4, TTLL3, UBE2NL, ULBP3, UMODL1, USP29, ZBED6CL, ZC3H3, ZNF117, ZNF80,

+ Genes associated with diseases 7

Genes at Omim

CASP12, FCGR2A, FLG2, FUT6, HLA-DQB1, TANGO2, TRPM1,

CASP12	{Sepsis, susceptibility to} (3)
FCGR2A	{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FLG2	Peeling skin syndrome 6, 618084 (3)
FUT6	Fucosyltransferase 6 deficiency, 613852 (3)
HLA-DQB1	{Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3) {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)

Genes at Clinical Genomics Database

FUT6, TANGO2, TRPM1,

FUT6	Fucosyltransferase 6 deficiency
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
TRPM1	Night blindness, congenital stationary, type 1C

Genes at HGMD

Summary

Number of Variants: 90
Number of Genes: 83

Export to: CSV

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ABCC12
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	paolo_maccallini_snp	16	rs36102575 dbSNP Clinvar	48130781	3437.77	C	T	PASS	0/1	250	STOP_GAINED	HIGH	NONSENSE	0.01817	0.01817	0.02292				None None	None None None None	ABCC12\|0.070949421\|57.23%
ACSM4
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	paolo_maccallini_snp	12	rs7485773 dbSNP Clinvar	7475081	1132.77	C	T	PASS	0/1	82	STOP_GAINED	HIGH	NONSENSE	0.04852	0.04852	0.05974				None None	None None None None	ACSM4\|0.022577905\|72.89%
ADH4
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	paolo_maccallini_snp	4	rs3919370 dbSNP Clinvar	100064326	2027.77	A	T	PASS	0/1	139	STOP_GAINED	HIGH	NONSENSE	0.11681	0.11680					None None	None None None None	ADH4\|0.01057839\|80.46%
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	paolo_maccallini_snp	2	.	97851077	692.77	C	G	PASS	0/1	347	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	ANKRD36\|0.001192347\|94.46%
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	paolo_maccallini_snp	2	rs74941794 dbSNP Clinvar	96525771	423.77	A	C	PASS	0/1	112	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	ANKRD36C\|0.001406745\|93.3%
	View	paolo_maccallini_snp	2	rs76474100 dbSNP Clinvar	96617111	1242.77	G	A	PASS	0/1	101	STOP_GAINED	HIGH	NONSENSE	0.00040	0.00040					None None	None None None None	ANKRD36C\|0.001406745\|93.3%
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	paolo_maccallini_snp	5	rs12520799 dbSNP Clinvar	134782450	8805.77	T	A	PASS	1/1	262	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	paolo_maccallini_snp	5	rs62333235 dbSNP Clinvar	2755485	697.77	C	T	PASS	0/1	76	STOP_GAINED	HIGH	NONSENSE	0.29673	0.29670					None None	None None None None	C5orf38\|0.009040618\|81.62%
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	paolo_maccallini_snp	11	rs497116 dbSNP Clinvar	104763117	9310.77	G	A	PASS	1/1	287	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	paolo_maccallini_snp	17	rs79930314 dbSNP Clinvar	20769899	3969.77	G	T	PASS	0/1	212	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	CCDC144NL\|0.000779475\|96.79%
CLDN5
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