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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ACAN, ACSBG1, ADAL, ADAMTS17, ADAMTS7, ADAMTSL3, AGBL1, AKAP13, ANKDD1A, ANKRD63, AP4E1, ARID3B, ARNT2, ATP10A, BBS4, BCL2A1, BLM, BTBD1, BUB1B, C15orf27, C15orf39, CASC5, CATSPER2, CCDC33, CCNB2, CCPG1, CD276, CELF6, CERS3, CGNL1, CHD2, CHRFAM7A, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHSY1, CIB2, CILP, COPS2, COX5A, CSNK1G1, CSPG4, CTSH, CYFIP1, CYP19A1, CYP1A1, CYP1A2, DAPK2, DISP2, DMXL2, DNAJA4, DUOX1, DUOX2, DUOXA2, DYX1C1, EDC3, EFTUD1, EIF2AK4, ELL3, EXD1, FAH, FAM189A1, FAM227B, FANCI, FBN1, FES, FMN1, FSD2, FURIN, GABPB1, GABRA5, GABRG3, GALK2, GANC, GJD2, GOLGA6C, GOLGA6L2, GOLGA8I, GOLGA8K, HCN4, HERC1, HERC2, HEXA, HYKK, IGDCC3, IGDCC4, IGF1R, IL16, INO80, IQGAP1, IREB2, ISG20, ITGA11, KBTBD13, KIAA1199, KIF23, KIF7, KLHL25, LCMT2, LINS, LIPC, LMAN1L, LOXL1, LPCAT4, LRRK1, LTK, LYSMD4, MAN2A2, MAN2C1, MEF2A, MEGF11, MESP1, MESP2, MFGE8, MKRN3, MPI, MTFMT, MTMR10, MYO1E, MYO5A, MYO5C, MYO9A, NDUFAF1, NEO1, NIPA1, NMB, NPAP1, NR2F2, NTRK3, OCA2, OR4M2, PAK6, PARP6, PIF1, PLA2G4D, PLA2G4E, PLCB2, PLEKHO2, PLIN1, PML, POLG, POLR2M, POTEB2, PPP1R14D, PRC1, RAB11A, RASGRF1, RASGRP1, RGMA, RHOV, RMDN3, RORA, RPAP1, RPL4, RPS17, RPUSD2, RYR3, SCAPER, SEMA4B, SEMA6D, SH2D7, SH3GL3, SHF, SIN3A, SLC12A1, SLC12A6, SLC28A1, SLC28A2, SLTM, SMAD3, SNX33, SPG11, SPINT1, SPRED1, SPTBN5, SQRDL, SRP14, ST8SIA2, STARD5, STARD9, STOML1, STRA6, SV2B, SYNM, TGM7, TICRR, TLE3, TLN2, TMC3, TMCO5A, TMED3, TMEM87A, TPM1, TRPM1, TRPM7, TSPAN3, UBAP1L, UNC13C, UNC45A, USP8, VPS18, VPS39, WDR72, WDR73, ZFYVE19, ZNF106, ZNF592, ZNF609, ZNF710, ZSCAN2, ZWILCH,

+ Genes associated with diseases 64

Genes at Omim

ACAN, ADAMTS17, AGBL1, AP4E1, ARNT2, BBS4, BUB1B, CERS3, CHD2, CHRNA3, CHRNA5, CHSY1, CIB2, CILP, CYP19A1, DMXL2, DUOX2, DUOXA2, EDC3, EIF2AK4, FAH, FANCI, FBN1, HCN4, HERC1, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LIPC, LOXL1, MEF2A, MESP2, MKRN3, MPI, MTFMT, MYO1E, MYO5A, MYO9A, NDUFAF1, NIPA1, NR2F2, OCA2, PLCB2, PLIN1, PML, POLG, RORA, RPS17, SCAPER, SIN3A, SLC12A1, SLC12A6, SMAD3, SPG11, SPRED1, STRA6, TPM1, TRPM1, TRPM7, USP8, WDR72, WDR73,

ACAN	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17	Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
AP4E1	Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3)
ARNT2	?Webb-Dattani syndrome, 615926 (3)
BBS4	Bardet-Biedl syndrome 4, 615982 (3)
BUB1B	Colorectal cancer, somatic, 114500 (3) Mosaic variegated aneuploidy syndrome 1, 257300 (3) [Premature chromatid separation trait], 176430 (3)
CERS3	Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2	Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
CHRNA5	{Lung cancer susceptibility 2}, 612052 (3) {Nicotine dependence, susceptibility to}, 612052 (3)
CHSY1	Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIB2	Deafness, autosomal recessive 48, 609439 (3) Usher syndrome, type IJ, 614869 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1	Aromatase deficiency, 613546 (3) Aromatase excess syndrome, 139300 (3)
DMXL2	?Deafness, autosomal dominant 71, 617605 (3) ?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DUOX2	Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2	Thyroid dyshormonogenesis 5, 274900 (3)
EDC3	?Mental retardation, autosomal recessive 50, 616460 (3)
EIF2AK4	Pulmonary venoocclusive disease 2, 234810 (3)
FAH	Tyrosinemia, type I, 276700 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FBN1	Geleophysic dysplasia 2, 614185 (3) Ectopia lentis, familial, 129600 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Acromicric dysplasia, 102370 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3)
HCN4	Brugada syndrome 8, 613123 (3) Sick sinus syndrome 2, 163800 (3)
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2	Mental retardation, autosomal recessive 38, 615516 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA	GM2-gangliosidosis, several forms, 272800 (3) Tay-Sachs disease, 272800 (3) [Hex A pseudodeficiency], 272800 (3)
IGF1R	Insulin-like growth factor I, resistance to, 270450 (3)
KBTBD13	Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7	Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3)
LIPC	Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1	{Exfoliation syndrome, susceptibility to}, 177650 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MKRN3	Precocious puberty, central, 2, 615346 (3)
MPI	Congenital disorder of glycosylation, type Ib, 602579 (3)
MTFMT	Combined oxidative phosphorylation deficiency 15, 614947 (3) Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)
MYO1E	Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A	Griscelli syndrome, type 1, 214450 (3)
MYO9A	Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NDUFAF1	Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NIPA1	Spastic paraplegia 6, autosomal dominant, 600363 (3)
NR2F2	Congenital heart defects, multiple types, 4, 615779 (3)
OCA2	Albinism, brown oculocutaneous, 203200 (3) Albinism, oculocutaneous, type II, 203200 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PLCB2	Platelet PLC beta-2 deficiency (1)
PLIN1	Lipodystrophy, familial partial, type 4, 613877 (3)
PML	Leukemia, acute promyelocytic, PML/RARA type (3)
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
RORA	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
RPS17	Diamond-Blackfan anemia 4, 612527 (3)
SCAPER	Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SIN3A	Witteveen-Kolk syndrome, 613406 (3)
SLC12A1	Bartter syndrome, type 1, 601678 (3)
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SMAD3	Loeys-Dietz syndrome 3, 613795 (3)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1	Legius syndrome, 611431 (3)
STRA6	Microphthalmia, isolated, with coloboma 8, 601186 (3) Microphthalmia, syndromic 9, 601186 (3)
TPM1	Cardiomyopathy, dilated, 1Y, 611878 (3) Cardiomyopathy, hypertrophic, 3, 115196 (3) Left ventricular noncompaction 9, 611878 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
USP8	Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
WDR72	Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73	Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

ACAN, ADAMTS17, AGBL1, AP4E1, ARNT2, BBS4, BLM, BUB1B, CERS3, CHD2, CHSY1, CIB2, CYP19A1, CYP1A2, DMXL2, DUOX2, DUOXA2, DYX1C1, EDC3, EIF2AK4, FAH, FANCI, FBN1, HCN4, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LIPC, MESP2, MKRN3, MPI, MTFMT, MYO1E, MYO5A, NDUFAF1, NIPA1, NR2F2, OCA2, PLIN1, POLG, RPS17, SLC12A1, SLC12A6, SMAD3, SPG11, SPRED1, STRA6, TPM1, TRPM1, VPS39, WDR72, WDR73, ZNF592,

ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17	Weill-Marchesani-like syndrome
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
AP4E1	Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive
ARNT2	Webb-Datani syndrome
BBS4	Bardet-Biedl syndrome 4
BLM	Bloom syndrome
BUB1B	Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
CERS3	Ichthyosis, congenital, autosomal recessive 9
CHD2	Epileptic encephalopathy, childhood-onset
CHSY1	Temtamy preaxial brachydactyly syndrome
CIB2	Deafness, autosomal recessive 48 Usher syndrome type IJ
CYP19A1	Aromatase deficiency
CYP1A2	CYP1A2-related drug metabolism
DMXL2	Polyendocrine-polyneuropathy syndrome
DUOX2	Thyroid dyshormonogenesis 6
DUOXA2	Thyroid dyshormonogenesis 5
DYX1C1	Ciliary dyskinesia, primary 25
EDC3	Mental retardation, autosomal recessive 50
EIF2AK4	Pulmonary venoocclusive disease 2
FAH	Tyrosinemia, type I
FANCI	Fanconi anemia, complementation group I
FBN1	Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome
HCN4	Brugada syndrome 8 Sick sinus syndrome 2
HERC2	Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38
HEXA	Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency
IGF1R	Insulin-like growth factor I, resistance to
KBTBD13	Nemaline myopathy 6
KIF7	Hydrolethalus syndrome 2 Acrocallosal syndrome Joubert syndrome 12 Al-Gazali-Bakalinova syndrome
LIPC	Hepatic lipase deficiency
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MKRN3	Central precocious puberty
MPI	Congenital disorder of glycosylation, type Ib
MTFMT	Combined oxidative phosphorylation deficiency 15
MYO1E	Focal segmental glomerulosclerosis 6
MYO5A	Griscelli syndrome, type 1
NDUFAF1	Mitochondrial complex I deficiency
NIPA1	Spastic paraplegia 6
NR2F2	Congenital heart defects 4
OCA2	Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Skin/hair/eye pigmentation 1
PLIN1	Lipodystrophy, familial partial, type 4
POLG	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders
RPS17	Diamond-Blackfan anemia 4
SLC12A1	Bartter syndrome, antenatal, type 1
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SMAD3	Aneurysms-osteoarthritis syndrome Loeys-Dietz syndrome, type 3
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
SPRED1	Legius syndrome
STRA6	Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8
TPM1	Cardiomyopathy, dilated, 1Y Cardiomyopathy, familial hypertrophic, 3
TRPM1	Night blindness, congenital stationary, type 1C
VPS39	Schizophrenia
WDR72	Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73	Galloway-Mowat syndrome
ZNF592	Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 759
Number of Genes: 212

Export to: CSV

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ACAN
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	16hpc01701_s1 genome	15	rs2882676 dbSNP Clinvar	89400339	754.36	A	C	PASS	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	None	0.42412	0.42410	0.43105	0.19	0.12		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs3817428 dbSNP Clinvar	89415247	1451.56	C	G	PASS	0/1	154	NON_SYNONYMOUS_CODING	MODERATE	None	0.11422	0.11420	0.20206	0.00	0.70		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs62023518 dbSNP Clinvar	89398768	72.06	C	T	LowQD	0/1	61	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040					None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs200194458 dbSNP Clinvar	89398769	67.99	A	G	LowQD	0/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.00120	0.00120		0.12	0.05		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs12899191 dbSNP Clinvar	89400023	12.34	A	T	LowGQX;LowMQ;LowQD;SB	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	None				0.99	0.03		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs200437529 dbSNP Clinvar	89400137	5.41	A	G	LowGQX;LowQD;SB	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None				0.44	0.19		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	.	89400280	11.16	T	C	LowGQX;LowQD	0/1	96	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs4932439 dbSNP Clinvar	89401109	1385.61	A	G	PASS	1/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.76038	0.76040	0.13224	1.00	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs3825994 dbSNP Clinvar	89401615	413.66	T	G	PASS	0/1	43	SYNONYMOUS_CODING	LOW	None	0.53255	0.53250	0.35216				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs1042630 dbSNP Clinvar	89402051	596.45	A	G	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.64597	0.64600	0.26503	0.20	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs1042631 dbSNP Clinvar	89402239	229.53	T	C	LowGQ;LowGQX	1/1	7	SYNONYMOUS_CODING	LOW	None	0.73642	0.73640	0.18514				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs698621 dbSNP Clinvar	89402596	170.74	T	G	PASS	0/1	16	SYNONYMOUS_CODING	LOW	None	0.45148	0.45150	0.45219				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs1126823 dbSNP Clinvar	89417238	2872.33	A	G	PASS	1/1	107	NON_SYNONYMOUS_CODING	MODERATE	None	0.40675	0.40670	0.39531	1.00	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs369870175 dbSNP Clinvar	89386648	3388.67	C	T	PASS	0/1	277	NON_SYNONYMOUS_CODING	MODERATE	None	0.00080	0.00080	0.00008	0.00	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs763634219 dbSNP Clinvar	89400252	21.5	T	C	LowGQX;LowQD;SB	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None				0.40	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs2272023 dbSNP Clinvar	89391160	2827.72	C	A	PASS	0/1	243	SYNONYMOUS_CODING	LOW	None	0.69429	0.69430	0.20369				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs1568116 dbSNP Clinvar	89392745	11956.13	T	C	PASS	1/1	414	SYNONYMOUS_CODING	LOW	None	0.99561	0.99560	0.00990				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs2351491 dbSNP Clinvar	89398105	214.55	C	T	PASS	0/1	13	SYNONYMOUS_CODING	LOW	None	0.35004	0.35000	0.47549				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs3743399 dbSNP Clinvar	89398330	511.03	G	A	PASS	1/1	16	SYNONYMOUS_CODING	LOW	None	0.00040	0.75900	0.13242				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs938608 dbSNP Clinvar	89398605	505.58	G	T	PASS	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.45268	0.45270	0.40313	0.01	0.84		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs938609 dbSNP Clinvar	89398631	621.3	T	A	PASS	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.39217	0.39220	0.43306	0.07	0.22		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs767359801 dbSNP Clinvar	89398729	202.68	A	G	SB	0/1	59	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01701_s1 genome	15	rs62023517 dbSNP Clinvar	89398738	274.82	T	C	PASS	0/1	64	SYNONYMOUS_CODING	LOW	None	0.00200	0.00200					None None	None None None None	ACAN\|0.017538305\|75.58%
ACSBG1
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	16hpc01701_s1 genome	15	.	78474885	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.99		None None	None None None None	ACSBG1\|0.055446923\|61.08%
	View	16hpc01701_s1 genome	15	.	78526789	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACSBG1\|0.055446923\|61.08%
	View	16hpc01701_s1 genome	15	.	78526733	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACSBG1\|0.055446923\|61.08%
ADAL
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	16hpc01701_s1 genome	15	.	43643168	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.43	0.01		None None	None None None None	ADAL\|0.343367733\|24.61%
ADAMTS17
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	16hpc01701_s1 genome	15	rs4965613 dbSNP Clinvar	100801698	1620.85	G	A	PASS	1/1	60	SYNONYMOUS_CODING	LOW	None	0.69209	0.69210	0.32600				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs7496640 dbSNP Clinvar	100821467	5227.52	G	A	PASS	1/1	200	SYNONYMOUS_CODING	LOW	None	0.50000	0.50000	0.38498				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs7496668 dbSNP Clinvar	100821576	9138.82	G	A	PASS	1/1	338	NON_SYNONYMOUS_CODING	MODERATE	None	0.48463	0.48460	0.36257	0.16	0.00		None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs61752832 dbSNP Clinvar	100649248	4244.08	G	A	PASS	0/1	411	SYNONYMOUS_CODING	LOW	None	0.08526	0.08526	0.08811				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs12907333 dbSNP Clinvar	100672237	2533.61	T	G	PASS	1/1	92	SYNONYMOUS_CODING	LOW	None	0.99760	0.99760	0.00162				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs4965583 dbSNP Clinvar	100636586	3831.81	G	A	PASS	1/1	156	SYNONYMOUS_CODING	LOW	None	0.26378	0.26380	0.16569				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	16hpc01701_s1 genome	15	rs4369638 dbSNP Clinvar	100794363	2973.48	C	T	PASS	1/1	105	SYNONYMOUS_CODING	LOW	None	0.82149	0.82150	0.25465				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
ADAMTS7
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	16hpc01701_s1 genome	15	rs11854507 dbSNP Clinvar	79069121	9.8	A	G	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.25340	0.25340	0.33291				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	16hpc01701_s1 genome	15	rs2929155 dbSNP Clinvar	79058013	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.67013	0.67010	0.25344	1.00	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	16hpc01701_s1 genome	15	rs3784323 dbSNP Clinvar	79064170	14.92	C	T	LowGQ;LowGQX	1/1	2	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.06010	0.06010	0.03668				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	16hpc01701_s1 genome	15	.	79060476	7.08	T	G	LowGQ;LowGQX;SB	1/1	1	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	16hpc01701_s1 genome	15	rs111789308 dbSNP Clinvar	79058017	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.08367	0.08367	0.05917				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	16hpc01701_s1 genome	15	.	79058697	7.08	T	G	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.08	0.01		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
ADAMTSL3
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	16hpc01701_s1 genome	15	rs950169 dbSNP Clinvar	84706461	830.82	C	T	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.12899	0.12900	0.19479	0.05	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs4483821 dbSNP Clinvar	84488636	1611.39	A	G	PASS	0/1	158	NON_SYNONYMOUS_CODING	MODERATE	None	0.67931	0.67930	0.43749	0.57	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs4144691 dbSNP Clinvar	84539619	6363.06	C	G	PASS	1/1	199	NON_SYNONYMOUS_CODING	MODERATE	None	0.80751	0.80750	0.15170	1.00	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs7176737 dbSNP Clinvar	84651290	1632.38	T	C	PASS	0/1	133	SYNONYMOUS_CODING	LOW	None	0.86921	0.86920	0.16600				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs2277849 dbSNP Clinvar	84639350	918.12	C	T	PASS	0/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.26038	0.26040	0.29263	0.04	0.63		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs34047645 dbSNP Clinvar	84611367	2943.13	G	C	PASS	0/1	233	NON_SYNONYMOUS_CODING	MODERATE	None	0.05411	0.05411	0.11764	0.50	0.04		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs4842923 dbSNP Clinvar	84581904	1194.18	T	C	PASS	0/1	89	SYNONYMOUS_CODING	LOW	None	0.68610	0.68610	0.38175				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	16hpc01701_s1 genome	15	rs4842838 dbSNP Clinvar	84582124	966.53	G	T	PASS	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.68570	0.68570	0.38182	1.00	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
AGBL1
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	16hpc01701_s1 genome	15	rs8028043 dbSNP Clinvar	87217613	14.92	A	G	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None	0.89217	0.89220	0.11030	1.00	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	16hpc01701_s1 genome	15	.	86940739	9.3	C	A	LowGQX	0/1	4	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AGBL1\|0.082073978\|54.74%
AKAP13
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	16hpc01701_s1 genome	15	rs4075255 dbSNP Clinvar	86123924	1721.61	C	T	PASS	1/1	55	SYNONYMOUS_CODING	LOW	None	0.58227	0.58230	0.37379				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2241268 dbSNP Clinvar	86278309	855.46	G	A	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.13658	0.13660	0.19151	0.04	0.09		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs7178065 dbSNP Clinvar	86125031	3492.26	G	A	PASS	1/1	99	SYNONYMOUS_CODING	LOW	None	0.57668	0.57670	0.37471				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs7162168 dbSNP Clinvar	86124946	5941.86	T	C	PASS	1/1	200	NON_SYNONYMOUS_CODING	MODERATE	None	0.58267	0.58270	0.37302	0.72	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs4843075 dbSNP Clinvar	86124555	6330.95	G	A	PASS	1/1	222	NON_SYNONYMOUS_CODING	MODERATE	None	0.58127	0.58130	0.37364	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs4843074 dbSNP Clinvar	86124483	4808.03	C	G	PASS	1/1	162	NON_SYNONYMOUS_CODING	MODERATE	None	0.58187	0.58190	0.37410	0.16	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs4843073 dbSNP Clinvar	86124419	2840.65	C	T	PASS	1/1	86	SYNONYMOUS_CODING	LOW	None	0.58147	0.58150	0.37371				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs4075254 dbSNP Clinvar	86123988	2071.95	G	A	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.58207	0.58210	0.37356	0.14	0.01		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs4075256 dbSNP Clinvar	86123833	4955.97	T	C	PASS	1/1	142	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.58210	0.37417	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs745191 dbSNP Clinvar	86123170	4463.71	G	T	PASS	1/1	142	NON_SYNONYMOUS_CODING	MODERATE	None	0.13459	0.13460	0.20412	0.01	0.70		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2061824 dbSNP Clinvar	86123019	3032.17	C	T	PASS	1/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.58307	0.58310	0.37325	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs11633087 dbSNP Clinvar	86124968	5980.28	G	A	PASS	1/1	184	SYNONYMOUS_CODING	LOW	None	0.57568	0.57570	0.38048				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2061823 dbSNP Clinvar	86122916	1776.05	T	C	PASS	1/1	57	SYNONYMOUS_CODING	LOW	None	0.58327	0.58330	0.37356				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2061822 dbSNP Clinvar	86122779	3197.31	T	C	PASS	1/1	102	NON_SYNONYMOUS_CODING	MODERATE	None	0.59625	0.59620	0.35095	0.09	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2061821 dbSNP Clinvar	86122654	7877.68	T	C	PASS	1/1	247	NON_SYNONYMOUS_CODING	MODERATE	None	0.58307	0.58310	0.37287	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	16hpc01701_s1 genome	15	rs2291049 dbSNP Clinvar	86087309	834.8	T	C	SB	1/1	24	None	None	None	0.74421	0.74420					None None	None None None None	AKAP13\|0.042148693\|65.04%
ANKDD1A
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	16hpc01701_s1 genome	15	rs2414865 dbSNP Clinvar	65236875	7.08	T	C	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.55292	0.55290	0.45293				None None	None None None None	ANKDD1A\|0.020521915\|73.92%
ANKRD63
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	16hpc01701_s1 genome	15	rs4924446 dbSNP Clinvar	40573716	9.8	A	G	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.99701	0.99700		1.00	0.00		None None	None None None None	PLCB2\|0.161252195\|41.37%,ANKRD63\|0.046527849\|63.73%
AP4E1
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	16hpc01701_s1 genome	15	.	51223025	849.88	C	A	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.98		None None	None None None None	AP4E1\|0.148213005\|43.26%
ARID3B
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	16hpc01701_s1 genome	15	rs8043032 dbSNP Clinvar	74836316	153.99	A	G	LowGQ;LowGQX	0/1	8	SYNONYMOUS_CODING	LOW	None	0.00160	0.36080	0.13978				None None	None None None None	ARID3B\|0.157497653\|41.95%
ARNT2
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	16hpc01701_s1 genome	15	.	80883924	7.08	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.26		None None	None None None None	ARNT2\|0.112367144\|48.8%
ATP10A
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	16hpc01701_s1 genome	15	rs10873607 dbSNP Clinvar	25961964	6078.11	A	G	PASS	1/1	218	SYNONYMOUS_CODING	LOW	None	0.99221	0.99220	0.00600				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs2066704 dbSNP Clinvar	25953442	1574.12	C	T	PASS	0/1	132	NON_SYNONYMOUS_CODING	MODERATE	None	0.07169	0.07169	0.09426	0.63	0.02		None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs2076743 dbSNP Clinvar	25926186	3178.23	G	A	PASS	1/1	107	SYNONYMOUS_CODING	LOW	None	0.67792	0.67790	0.31993				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs2076744 dbSNP Clinvar	25926179	2572.68	C	T	PASS	1/1	105	NON_SYNONYMOUS_CODING	MODERATE	None	0.28215	0.28210	0.24735	0.06	0.00		None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs149423703 dbSNP Clinvar	25925384	2345.11	C	A	PASS	0/1	213	SYNONYMOUS_CODING	LOW	None	0.00260	0.00260	0.00300				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs1047700 dbSNP Clinvar	25924539	4473.58	T	C	PASS	1/1	141	SYNONYMOUS_CODING	LOW	None	0.26637	0.26640	0.22836				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs17116056 dbSNP Clinvar	25969090	2835.74	G	T	PASS	0/1	241	NON_SYNONYMOUS_CODING	MODERATE	None	0.08427	0.08427	0.11410	0.01	0.97		None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	16hpc01701_s1 genome	15	rs2066703 dbSNP Clinvar	25962058	1508.31	G	A	PASS	0/1	147	NON_SYNONYMOUS_CODING	MODERATE	None	0.06470	0.06470	0.09127	0.01	0.90		None None	None None None None	ATP10A\|0.032097365\|68.57%
BBS4
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	16hpc01701_s1 genome	15	rs12914333 dbSNP Clinvar	73023937	3509.25	T	C	PASS	1/1	120	SYNONYMOUS_CODING	LOW	None	0.96046	0.96050	0.04396				None None	None None None None	BBS4\|0.334154614\|25.16%
	View	16hpc01701_s1 genome	15	rs2277598 dbSNP Clinvar	73027478	1755.15	T	C	PASS	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	None	0.42891	0.42890	0.46728	0.48	0.00		None None	None None None None	BBS4\|0.334154614\|25.16%
BCL2A1
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	16hpc01701_s1 genome	15	rs1138358 dbSNP Clinvar	80263345	3453.79	A	C	PASS	0/1	221	NON_SYNONYMOUS_CODING	MODERATE	None	0.45887	0.45890	0.36291	1.00	0.00		None None	None None None None	BCL2A1\|0.007127851\|83.37%
	View	16hpc01701_s1 genome	15	rs8026803 dbSNP Clinvar	80260014	816.36	T	C	PASS	0/1	86	None	None	None	0.38938	0.38940	0.29010				None None	None None None None	BCL2A1\|0.007127851\|83.37%
BLM
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	16hpc01701_s1 genome	15	rs2227933 dbSNP Clinvar	91337479	2002.43	G	A	PASS	0/1	142	SYNONYMOUS_CODING	LOW	None	0.15116	0.15120	0.18456				None None	None None None None	BLM\|0.189946543\|37.81%
	View	16hpc01701_s1 genome	15	rs2227934 dbSNP Clinvar	91346923	1217.36	C	A	PASS	0/1	97	SYNONYMOUS_CODING	LOW	None	0.13319	0.13320	0.16272				None None	None None None None	BLM\|0.189946543\|37.81%
	View	16hpc01701_s1 genome	15	rs1063147 dbSNP Clinvar	91354505	802.15	C	T	PASS	0/1	62	SYNONYMOUS_CODING	LOW	None	0.13279	0.13280	0.16456				None None	None None None None	BLM\|0.189946543\|37.81%
BTBD1
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	16hpc01701_s1 genome	15	rs559624330 dbSNP Clinvar	83687561	14.92	G	A	LowGQ;LowGQX	1/1	2	SYNONYMOUS_CODING	LOW	None							None None	None None None None	BTBD1\|0.279321765\|29.16%
BUB1B
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	16hpc01701_s1 genome	15	rs1802286 dbSNP Clinvar	40510662	561.25	C	T	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None	0.00899	0.00899	0.02138				None None	None None None None	BUB1B\|0.539848425\|14.21%,PAK6\|0.183662894\|38.57%
	View	16hpc01701_s1 genome	15	rs1047130 dbSNP Clinvar	40488851	510.18	G	A	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.19070	0.19070	0.22643				None None	None None None None	BUB1B\|0.539848425\|14.21%
	View	16hpc01701_s1 genome	15	rs1801376 dbSNP Clinvar	40477831	2363.71	G	A	PASS	1/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.62820	0.62820	0.26403	1.00	0.00		None None	None None None None	BUB1B\|0.539848425\|14.21%
C15orf27
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	16hpc01701_s1 genome	15	.	76463407	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	C15orf27\|0.074677831\|56.37%
	View	16hpc01701_s1 genome	15	.	76463374	14.92	T	A	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.98		None None	None None None None	C15orf27\|0.074677831\|56.37%
C15orf39
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	16hpc01701_s1 genome	15	rs11072531 dbSNP Clinvar	75499619	52.84	T	C	LowGQ;LowGQX	1/1	3	SYNONYMOUS_CODING	LOW	None	0.91853	0.91850	0.03520				None None	None None None None	C15orf39\|0.009123795\|81.57%
	View	16hpc01701_s1 genome	15	.	75500557	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.11	0.00		None None	None None None None	C15orf39\|0.009123795\|81.57%
	View	16hpc01701_s1 genome	15	rs1466663 dbSNP Clinvar	75498548	14.92	A	G	LowGQ;LowGQX	1/1	2	SYNONYMOUS_CODING	LOW	None	0.99241	0.99240	0.00863				None None	None None None None	C15orf39\|0.009123795\|81.57%
	View	16hpc01701_s1 genome	15	rs12591506 dbSNP Clinvar	75499602	52.84	C	A	LowGQ;LowGQX	1/1	3	SYNONYMOUS_CODING	LOW	None	0.86861	0.86860	0.08803				None None	None None None None	C15orf39\|0.009123795\|81.57%
CASC5
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	16hpc01701_s1 genome	15	rs7177192 dbSNP Clinvar	40898643	3295.03	G	C	PASS	1/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.65375	0.65380	0.17782	0.56	0.00		None None	None None None None	CASC5\|0.071244707\|57.17%
	View	16hpc01701_s1 genome	15	rs17747633 dbSNP Clinvar	40916237	4559.8	A	G	PASS	1/1	139	NON_SYNONYMOUS_CODING	MODERATE	None	0.20347	0.20350	0.32820	0.05	0.06		None None	None None None None	CASC5\|0.071244707\|57.17%
	View	16hpc01701_s1 genome	15	rs8040502 dbSNP Clinvar	40915190	3732.25	A	G	PASS	1/1	132	NON_SYNONYMOUS_CODING	MODERATE	None	0.70567	0.70570	0.13053	1.00	0.00		None None	None None None None	CASC5\|0.071244707\|57.17%
	View	16hpc01701_s1 genome	15	rs2412541 dbSNP Clinvar	40913840	5015.99	G	T	PASS	1/1	161	NON_SYNONYMOUS_CODING	MODERATE	None	0.65395	0.65400	0.17829	1.00	0.00		None None	None None None None	CASC5\|0.071244707\|57.17%

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+ Genes 212

+ Genes associated with diseases 64

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ACAN

ACSBG1

ADAL

ADAMTS17

ADAMTS7

ADAMTSL3

AGBL1

AKAP13

ANKDD1A

ANKRD63

AP4E1

ARID3B

ARNT2

ATP10A

BBS4

BCL2A1

BLM

BTBD1

BUB1B

C15orf27

C15orf39

CASC5

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