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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:
ABCA10, AMIGO3, ANAPC1, ANKDD1B, ATP6V0E2, C19orf55, C2orf70, C5orf20, C6orf57, CASP12, CCHCR1, CDRT15, CLDN5, CLUL1, CNTN5, CYP2A7, DNAH11, DYX1C1, EFCAB5, EIF3CL, EML3, EPHB2, ERV3-1, FAM187B, FAM81B, FBLIM1, FCRL6, FOXD4L3, FUT2, GOLGA6L18, GPRC6A, H2BFM, HAVCR1, HLA-A, HLA-B, HLA-DPB1, HLA-DQB1, HLA-DRB5, HRNR, IL17RB, KRT37, KRT38, KRTAP13-2, LGALS8, MAGEB16, MS4A12, MUC19, MYO18A, NBPF14, NBPF9, NDUFB9, NDUFV3, NPIPB15, OR10X1, OR2L8, OR2T12, OR3A1, OR4X1, OR51Q1, OR52N4, OR5AR1, PABPC3, PDE4DIP, PKD1L2, PLA2G2C, PRAMEF1, PRAMEF13, PRAMEF6, PTPN18, RFPL1, SDR42E1, SLC22A10, SLC22A24, SLC35G6, SLC39A2, SLC5A9, SLC6A18, SPERT, STARD6, TAS2R46, TPTE, TTC4, UBE2NL, USP29, ZNF117, ZNF155, ZNF530, ZNF860,

+ Genes associated with diseases 9

Genes at Omim

CASP12, DNAH11, EPHB2, FUT2, HLA-A, HLA-B, HLA-DPB1, HLA-DQB1, NDUFB9,

CASP12	{Sepsis, susceptibility to} (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
EPHB2	{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (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)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQB1	{Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3) {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
NDUFB9	?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)

Genes at Clinical Genomics Database

DNAH11, DYX1C1, HLA-A, HLA-B,

DNAH11	Ciliary dyskinesia, primary, 7
DYX1C1	Ciliary dyskinesia, primary 25
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to

Genes at HGMD

Summary

Number of Variants: 95
Number of Genes: 88

Export to: CSV

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ABCA10
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	17	rs11077414 dbSNP Clinvar	67212031	19460.3	A	G,T	.	1/2	106	STOP_GAINED	HIGH	None	0.06470	0.47140	0.42465			5.13	None None	None None None None	ABCA10\|0.002179826\|90.49%
AMIGO3
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	3	rs768721294 dbSNP Clinvar	49756230	11250.9	G	T	.	0/1	178	STOP_GAINED	HIGH	None						9.23	None None	None None None None	RNF123\|0.227645905\|33.58%,AMIGO3\|0.025035326\|71.77%,GMPPB\|0.248151066\|31.69%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	2	rs72936240 dbSNP Clinvar	112614429	2023.94	G	A	.	0/1	136	STOP_GAINED	HIGH	None						10.50	None None	None None None None	ANAPC1\|0.14646446\|43.53%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	5	rs34358 dbSNP Clinvar	74965122	10075.9	G	A	.	0/1	129	STOP_GAINED	HIGH	None	0.50699	0.50700				12.69	None None	None None None None	ANKDD1B\|0.036539802\|66.95%
ATP6V0E2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	7	rs201704269 dbSNP Clinvar	149576629	7984.9	C	T	.	0/1	137	STOP_GAINED	HIGH	None	0.00040	0.00040	0.00041			5.83	None None	None None None None	ATP6V0E2\|0.014664258\|77.4%
C19orf55
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	19	rs116498218 dbSNP Clinvar	36250842	2981.9	G	A	.	0/1	73	STOP_GAINED	HIGH	None	0.00559	0.00559	0.00639			4.31	None None	None None None None	PROSER3\|0.008590667\|82.06%
C2orf70
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	2	rs748995331 dbSNP Clinvar	26800435	2891.9	C	T	.	0/1	79	STOP_GAINED	HIGH	None						10.88	None None	None None None None	C2orf70\|0.012079449\|79.19%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	5	rs12520799 dbSNP Clinvar	134782450	21794.9	T	A	.	1/1	190	STOP_GAINED	HIGH	None	0.64517	0.64520	0.40151			5.43	None None	None None None None	DCANP1\|0.000625841\|97.73%,TIFAB\|0.012847206\|78.59%
C6orf57
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	6	rs61735710 dbSNP Clinvar	71289188	10369.9	C	T	.	0/1	117	STOP_GAINED	HIGH	None	0.00919	0.00919	0.00508			9.25	None None	None None None None	SDHAF4\|0.048448496\|63.15%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	11	rs497116 dbSNP Clinvar	104763117	21131.3	G	A	.	1/1	95	STOP_GAINED	HIGH	None	0.94848	0.94850				4.41	None None	None None None None	CASP12\|0.001761043\|91.65%