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Genes:
AADACL3, AAK1, AATK, AC005609.1, AC010536.1, AC012123.1, AC017104.2, AC020922.1, AC062017.1, AC096644.1, ACIN1, ADAM32, ADAMTS8, AFAP1L2, AGPAT2, AIDA, AK5, AK9, AKAP12, ALDH3A2, ALDH3B1, ALDH4A1, ALG9, ALLC, ALPK2, ANKRD31, ANKRD36C, ANLN, ANP32E, AOAH, AOC3, APOBEC3A, APOBEC3B, APOBEC3G, APOBEC3H, AQP12B, ARID1B, ARID3B, ARMCX4, ARSB, ART5, ASCL1, ASPN, ATAD5, ATG9B, ATN1, ATP5A1, ATXN2, B3GNT6, BAIAP2L2, BARD1, BCL6B, C10orf113, C11orf40, C11orf91, C12orf43, C12orf56, C14orf180, C14orf23, C17orf100, C18orf25, C21orf49, C22orf34, C22orf43, C6orf164, C8orf59, CA2, CARD10, CCDC129, CCDC33, CCDC66, CCDC74B, CCNB1IP1, CCT5, CD180, CD207, CD3EAP, CDCP2, CDK11A, CDK13, CDK5RAP3, CDKN2AIP, CDRT4, CELA1, CHD1, CHI3L1, CHIA, CLCA4, CLDN16, CLECL1, CLTCL1, COL18A1, COL26A1, COL6A5, COMT, COPZ2, CPS1, CREB3L1, CREB3L2, CTA-299D3.8, CTC-241N9.1, CTD-3193O13.9, CTU2, CYFIP2, DCAF7, DCP1A, DCP1B, DDHD1, DEFB126, DEPDC5, DHRS4L2, DIXDC1, DNAH14, DNAJC28, DNHD1, DUSP5, EI24, EME1, EMG1, EOMES, EPDR1, EPHB6, ETFB, EVA1A, FAM166A, FAM171B, FAM174B, FAM194B, FAM210B, FAM228B, FAM71E2, FAM83G, FBXL21, FCGBP, FDFT1, FERD3L, FMN2, FMNL2, FOLH1, FOXD2, FOXE1, FOXF2, FPGT-TNNI3K, FRG1B, FSIP2, GAS2L1, GBE1, GBP1, GDPD4, GGT1, GIGYF2, GLT6D1, GOLGA6L2, GPATCH4, GPR112, GPR50, GPRIN1, GPRIN2, GREB1L, GRIN3B, HAAO, HADHB, HAVCR1, HCG27, HDGFRP2, HLA-DPB1, HOMEZ, HOXA1, HOXB1, HOXD9, HPN, HRNR, HSD17B14, HSH2D, HTT, HYDIN, IFI27, IGLJ2, IGLV3-16, IGLV4-60, IGSF3, IL32, IL34, INMT, IQSEC1, IST1, ITIH5, ITPKB, KANK3, KCNN2, KIAA0040, KIAA2018, KIF18A, KIF19, KIF1A, KLHL25, KLRF1, KMT2B, KRBA1, KRT24, KRTAP10-10, KRTAP17-1, KRTAP19-6, KRTAP4-8, LAD1, LCA10, LCN15, LENG9, LEPREL2, LINC00955, LRP5, LRP6, LRRC17, LRRC49, LSR, LTF, MAGEF1, MAL2, MALRD1, MAML3, MAP3K1, MAP3K4, MAPK8IP2, MCC, MDK, MDP1, MDS2, MEF2A, MEGF9, MEOX2, METTL21C, MEX3C, MICA, MMP28, MRPL18, MRPS7, MS4A14, MTAP, MUC13, MUC3A, MUC4, MYO5B, MYOM1, NADK, NCAM1, NCOA3, NCOR2, NEK3, NINL, NKAP, NLRC3, NOP16, NOP9, NOTCH4, NOX4, NPRL3, NQO1, NR1H2, NRD1, NUCB2, NUDT11, NUDT18, NUP54, NUTM2F, OPLAH, OR10J4, OR11G2, OR13C5, OR14A16, OR1B1, OR2A14, OR2T27, OR2T3, OR2T35, OR2T4, OR2T7, OR4C3, OR4Q2, OR4X1, OR51F1, OR51I2, OR52B4, OR5B3, OR5H6, OR5K3, OR5K4, OR5M1, OR6C76, OR7C2, ORAI1, OTOP1, OTUD7A, P2RX5, PAPPA-AS1, PCDH12, PCLO, PCSK6, PDE11A, PDE4DIP, PDE6G, PGPEP1L, PHLDA1, PIEZO1, PIK3C2G, PIK3R6, PLA2R1, PLCD3, PLEKHA2, PNLIPRP1, PNLIPRP2, PNPT1, POLDIP2, POLI, POMC, POU3F1, POU4F2, PPP1R9B, PRB3, PRDM15, PRDM2, PRICKLE4, PRKDC, PRUNE2, PSG8, PSORS1C1, QRICH2, RAB38, RAI1, RARRES2, RBM23, RBMXL3, RDH13, REC8, RECQL4, REXO1, RIBC2, RIC8A, RIN3, RNASET2, RP11-156E8.1, RP11-17M16.1, RP11-181C3.1, RP11-758M4.1, RPA1, RRM1, RTKN2, RTL1, RTTN, SAAL1, SAMD4A, SARM1, SBK3, SCAMP1, SCARF2, SCRN3, SEMA4D, SENP3, SERINC2, SERPINB5, SETD6, SFRP1, SGK223, SH2D5, SH3BGR, SHROOM4, SIGLEC12, SIRPA, SIRT3, SLAIN1, SLC37A4, SLC41A3, SLC46A1, SMARCA2, SNRNP200, SNRPC, SON, SP8, SPATA21, SPSB4, SRL, SRRM3, SRSF8, SULT1C3, SYNGR1, SYNJ1, SYNPO2, SYT14, TBP, TCEAL6, TEX13A, TICAM1, TIGD6, TLR10, TLR3, TLR8, TMEM184A, TMEM25, TMEM37, TMPRSS13, TMPRSS9, TMX4, TNFRSF12A, TNRC6B, TNS3, TOX2, TP53I11, TP53TG5, TRAJ36, TRAJ37, TRDMT1, TRIOBP, TSNAXIP1, TSPAN10, TUSC1, TYW1B, UPP2, URI1, USP20, USP48, VEGFC, VSIG10L, VTA1, WARS, WDR60, WDR66, WDR81, WNK1, WWC1, YEATS2, ZAN, ZBTB33, ZC3H8, ZCCHC3, ZCCHC6, ZFPM1, ZFYVE19, ZIC5, ZNF2, ZNF275, ZNF284, ZNF384, ZNF410, ZNF480, ZNF516, ZNF598, ZNF714, ZNF717, ZNF772, ZNF787, ZNF804A, ZNF814, ZNF816, ZNF852,

Genes at Omim

AGPAT2, ALDH3A2, ALDH4A1, ALG9, ANLN, ARID1B, ARSB, ASCL1, ASPN, ATN1, ATP5A1, ATXN2, BARD1, CA2, CCT5, CD207, CHI3L1, CLDN16, COL18A1, COMT, CPS1, DDHD1, DEPDC5, EMG1, ETFB, FMN2, FOXE1, GBE1, GGT1, GIGYF2, HADHB, HAVCR1, HLA-DPB1, HOXA1, HOXB1, HTT, HYDIN, IGSF3, KIF1A, LRP5, LRP6, MAP3K1, MCC, MEF2A, MTAP, MYO5B, NPRL3, NQO1, OPLAH, ORAI1, PCLO, PDE11A, PDE6G, PIEZO1, PNPT1, POMC, PRKDC, RAI1, RECQL4, RNASET2, RTTN, SCARF2, SHROOM4, SLC37A4, SLC46A1, SMARCA2, SNRNP200, SON, SYNJ1, SYT14, TBP, TICAM1, TLR3, TRIOBP, VEGFC, WDR60, WDR81, WNK1, WWC1,
AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASCL1 Central hypoventilation syndrome, congenital, 209880 (3)
Haddad syndrome, 209880 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)
ATXN2 Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD207 ?[Birbeck granule deficiency], 613393 (3)
CHI3L1 {Asthma-related traits, susceptibility to, 7}, 611960 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GGT1 Glutathioninuria (1)
GIGYF2 {Parkinson disease 11}, 607688 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HAVCR1 {Atopy, resistance to}, 147050 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HTT Huntington disease, 143100 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
LRP5 Exudative vitreoretinopathy 4, 601813 (3)
Hyperostosis, endosteal, 144750 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
{Osteoporosis}, 166710 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphedema, hereditary, III, 616843 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
{Obesity, early-onset, susceptibility to}, 601665 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SHROOM4 ?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON Tokita-Kim syndrome, 617140 (3)
SYNJ1 Parkinson disease 20, early-onset, 615530 (3)
SYT14 Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TBP Spinocerebellar ataxia 17, 607136 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Herpes simplex encephalitis, susceptibility to, 2} 613002 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
VEGFC Lymphedema, hereditary, ID, 615907 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

AGPAT2, ALDH3A2, ALDH4A1, ALG9, ANLN, ARID1B, ARSB, ASCL1, ATN1, ATP5A1, ATXN2, BARD1, CA2, CCT5, CD207, CLDN16, COL18A1, COMT, CPS1, CREB3L1, DEPDC5, EMG1, ETFB, FMN2, FOXE1, GBE1, GIGYF2, HADHB, HOXA1, HOXB1, HTT, IGSF3, KIF1A, LRP5, LRP6, MAP3K1, MTAP, MYO5B, OPLAH, ORAI1, PDE11A, PDE6G, PIEZO1, PNPT1, POMC, PRKDC, RAI1, RECQL4, RNASET2, RTTN, SCARF2, SHROOM4, SLC37A4, SLC46A1, SMARCA2, SNRNP200, SYT14, TBP, TICAM1, TLR3, TRIOBP, VEGFC, WDR60, WDR81, WNK1, ZNF480,
AGPAT2 Lipodystrophy, congenital generalized, type 1
ALDH3A2 Sjogren-Larsson syndrome
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
ANLN Focal segmental glomerulosclerosis 8
ARID1B Coffin-Siris syndrome 1
Mental retardation, autosomal dominant, 12
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP5A1 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
Combined oxidative phosphorylation deficiency 22
ATXN2 Spinocerebellar ataxia 2
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD207 Birbeck granule deficiency
CLDN16 Hypomagnesemia 3, renal
COL18A1 Knobloch syndrome 1
COMT Medication response, association with
CPS1 Carbamoylphosphate synthetase I deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
DEPDC5 Epilepsy, familial focal, with variable foci
EMG1 Bowen-Conradi syndrome
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
FMN2 Mental retardation, autosomal recessive, 47
FOXE1 Congenital hypothyroidism
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Thyroid cancer, nonmedullary 4
GBE1 Glycogen storage disease IV
GIGYF2 Parkinson disease, autosomal dominant, 11
HADHB Trifunctional protein deficiency
HOXA1 Bosley-Salih-Alorainy syndrome
Athabaskan brainstem dysgenesis syndrome
HOXB1 Facial paresis, hereditary congenital, 3
HTT Huntington disease
IGSF3 Lacrimal duct defect
KIF1A Spastic paraplegia 30, autosomal recessive
Neuropathy, hereditary sensory, type IIC
Mental retardation, autosomal dominant 9
LRP5 Osteoporosis-pseudoglioma syndrome
Exudative vitreoretinopathy 4
Hyperostosis, endosteal
Osteosclerosis
Osteopetrosis, autosomal dominant 1
van Buchem disease, type 2
LRP6 Coronary artery disease, autosomal dominant 2
MAP3K1 46,XY sex reversal 6
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MYO5B Diarrhea 2, with microvillus atrophy
OPLAH 5-oxoprolinase deficiency
ORAI1 Immunodeficiency 9
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PDE6G Retinitis pigmentosa 57
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PNPT1 Deafness, autosomal recessive 70
POMC Proopiomelanocortin deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RAI1 Smith-Magenis syndrome
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SCARF2 Van den Ende-Gupta syndrome
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC37A4 Glycogen storage disease Id
Glycogen storage disease Ic
Glycogen storage disease Ib
SLC46A1 Folate malabsorption, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SNRNP200 Retinitis pigmentosa 33
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TBP Spinocerebellar ataxia 17
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRIOBP Deafness, autosomal recessive 28
VEGFC Lymphedema, hereditary, ID
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK1 Neuropathy, hereditary sensory and autonomic, type IIA
Pseudohypoaldosteronism, type IIC
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 1082
Number of Genes: 453

Export to: CSV

AADACL3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3000859
dbSNP
12776344 1276.77 A T . 1/1 38 START_GAINED LOW 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None None

AAK1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs3832159,rs66931661
dbSNP
69741753 482.73 CTGT C . 0/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35583 0.35580 0.34251 None None None None None None None

AATK

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs746215042,rs376907005
dbSNP
79093270 681.73 C CG... . 0/1 25 CODON_INSERTION MODERATE 0.09036 None None None None None None None

AC005609.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs11321479
dbSNP
140242451 641.73 GC G . 1/1 16 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None None

AC010536.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs34111279
dbSNP
87729334 1165.73 C CA . 0/1 64 FRAME_SHIFT HIGH None None None None None None None

AC012123.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs200605696
dbSNP
30352057 767.73 GC... G . 0/1 22 FRAME_SHIFT HIGH None None None None None None None

AC017104.2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11295750,rs796987985
dbSNP
232317402 1491.73 CA C . 0/1 70 FRAME_SHIFT HIGH 0.23582 0.23580 None None None None None None None

AC020922.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs761097492
dbSNP
55856415 372.73 T TG . 0/1 37 FRAME_SHIFT HIGH None None None None None None None

AC062017.1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs3215239
dbSNP
240323905 1170.73 T TG . 0/1 60 FRAME_SHIFT HIGH 0.51817 0.51820 None None None None None None None

AC096644.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs10553491,rs67066512
dbSNP
220603310 2247.73 TGTGA T . 1/1 45 FRAME_SHIFT HIGH None None None None None None None

ACIN1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs34870944
dbSNP
23548787 5702.74 C CG... . 0/1 112 CODON_INSERTION MODERATE None None None None None None None
View mm170241ct 14 rs148403158,rs3077646
dbSNP
23548783 5457.73 A AG... . 1/1 112 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.38778 0.38780 0.49976 None None None None None None None

ADAM32

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs59118660
dbSNP
38965271 1025.77 C T . 0/1 68 START_GAINED LOW 0.43790 0.43790 0.33230 None None None None None None None

ADAMTS8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs10548872
dbSNP
130298117 260.73 GGCA G . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07728 0.47700 0.51250 None None None None None None None

AFAP1L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs74928179
dbSNP
116085784 1343.73 C CCCG . 0/1 57 CODON_INSERTION MODERATE None None None None None None None

AGPAT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs201504151,rs768646064,rs77891680
dbSNP
139581758 1553.73 C CCAG . 0/1 83 CODON_INSERTION MODERATE 0.04892 0.04892 None None None None None None None

AIDA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3811465
dbSNP
222886119 2084.77 A G . 1/1 58 START_GAINED LOW 0.75719 0.75720 0.06 0.00 None None None None None None None

AK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs79671213
dbSNP
78024345 2959.73 C CTAT . 1/1 57 CODON_INSERTION MODERATE 0.61961 0.61960 0.35982 None None None None None None None

AK9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs71770197,rs141134529,rs568921203
dbSNP
109906329 968.73 GCTT G . 0/1 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.37201 0.37200 0.33319 None None None None None None None

AKAP12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs3842128,rs113116275,rs34338625
dbSNP
151674116 10477.73 T TGAG . 1/1 212 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.70387 0.70390 0.22056 None None None None None None None

ALDH3A2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs7216
dbSNP
19578873 2643.77 A T . 0/1 204 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None None

ALDH3B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs58160034,rs397695802
dbSNP
67789293 1106.73 G GC . 1/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None None
View mm170241ct 11 rs11436139,rs58238184
dbSNP
67795378 1619.73 G GC . 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None None

ALDH4A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs6695033
dbSNP
19201919 181.77 T C . 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.06550 0.06550 0.06758 0.03 0.69 None None None None None None None

ALG9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs10708475,rs869187252
dbSNP
111742145 1280.73 CG C . 1/1 30 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None None

ALLC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP
3749151 1100.73 GGAA G . 0/1 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41194 0.41190 0.49313 None None None None None None None

ALPK2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs141586980
dbSNP
56203252 1860.73 AAAG A . 0/1 108 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07208 0.07208 0.11480 None None None None None None None

ANKRD31

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs10563854,rs796339850
dbSNP
74491715 4867.73 TTCA T . 0/1 215 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58147 0.58150 0.49535 None None None None None None None

ANKRD36C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs147285461
dbSNP
96610395 3184.65 C CA . 0/1 284 FRAME_SHIFT HIGH None None None None None None None

ANLN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs143969069,rs374349756,rs61549495
dbSNP
36447349 6009.73 A ACTT . 0/1 255 CODON_INSERTION MODERATE 0.44948 0.44950 0.38393 None None None None None None None

ANP32E

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs68136184,rs56692627
dbSNP
150199039 2069.73 CT... C . 0/1 81 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35064 0.35060 0.20257 None None None None None None None

AOAH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs57543920
dbSNP
36552790 2466.73 G GT . 1/1 66 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None None
View mm170241ct 7 rs59476355
dbSNP
36552729 3239.73 A AT . 1/1 88 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None None

AOC3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs408038
dbSNP
41003871 400.77 G A . 0/1 52 PROTEIN_INTERACTION_LOCUS HIGH 0.00180 0.23 0.05 None None None None None None None

APOBEC3A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs35994173
dbSNP
39357581 51.77 C T . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.24581 0.24580 0.20635 None None None None None None None

APOBEC3B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs368511533
dbSNP
39387395 314.73 TG T . 0/1 26 FRAME_SHIFT HIGH 0.01897 0.01897 0.02056 None None None None None None None

APOBEC3G

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs17496046
dbSNP
39482371 265.77 C G . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.05731 0.05731 0.09296 0.05 1.00 None None None None None None None

APOBEC3H

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs140936762,rs201177427,rs139292
dbSNP
39496322 904.73 TAAC T . 0/1 55 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.31749 0.31750 0.32481 None None None None None None None

AQP12B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs201917032
dbSNP
241621799 189.87 GC G . 1/1 5 FRAME_SHIFT HIGH 0.23203 0.23200 0.19662 None None None None None None None

ARID1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs780034760,rs587779748
dbSNP
157100005 645.73 CGGA C . 0/1 43 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.03501 None None None None None None None

ARID3B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs574173186,rs770169890
dbSNP
74836289 350.73 T TCAG . 0/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.00499 0.00499 None None None None None None None

ARMCX4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs963618
dbSNP
100743037 1436.77 C T . 1/1 41 START_GAINED LOW 0.65987 0.65990 None None None None None None None

ARSB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1071598
dbSNP
78181423 806.77 C T . 0/1 53 PROTEIN_INTERACTION_LOCUS HIGH 0.10863 0.10860 0.13701 0.19 0.28 None None None None None None None

ART5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs3062849
dbSNP
3661585 3213.72 A ATGG . 1/1 58 CODON_INSERTION MODERATE 0.96745 0.96750 0.03526 None None None None None None None

ASCL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs3832799,rs764970999
dbSNP
103352171 440.52 C CGCA . 1/1 23 CODON_INSERTION MODERATE None None None None None None None

ASPN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3078372,rs764248772,rs113747060
dbSNP
95237024 2979.73 C CTCA . 1/1 131 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

ATAD5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs72427574,rs60663953
dbSNP
29161955 6616.73 AC... A . 0/1 190 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.14397 0.14400 0.08583 None None None None None None None

ATG9B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs11393607,rs77573754
dbSNP
150713902 641.73 G GC . 1/1 17 FRAME_SHIFT HIGH 1.00000 1.00000 0.00099 None None None None None None None

ATN1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs377147612,rs782466377
dbSNP
7045891 774.73 AC... A . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

ATP5A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs56181324
dbSNP
43678024 136.77 G A . 0/1 8 MOTIF[MA0095.1:Yy1] LOW 0.23882 0.23880 None None None None None None None

ATXN2

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs10560189,rs67658094
dbSNP
112036753 321.77 GGCT G . 1/1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.95108 0.95110 0.09190 None None None None None None None

B3GNT6

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs11292198,rs796338514
dbSNP
76751541 1850.73 CT C . 1/1 47 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None None
View mm170241ct 11 rs11292199,rs869161434
dbSNP
76751584 2048.73 CT C . 1/1 46 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None None
View mm170241ct 11 rs11292200,rs869242457,rs796140348
dbSNP
76751603 1692.73 CT C . 1/1 46 FRAME_SHIFT HIGH 1.00000 1.00000 0.00025 None None None None None None None

BAIAP2L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs142739979
dbSNP
38483155 1703.73 T TT... . 1/1 18 CODON_INSERTION MODERATE 0.30052 0.30050 0.33270 None None None None None None None

BARD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2070094
dbSNP
215632255 2513.77 C T . 0/1 153 PROTEIN_INTERACTION_LOCUS HIGH 0.36621 0.36620 0.28064 0.12 0.01 None None None None None None None

BCL6B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs146207245,rs72254884
dbSNP
6928019 972.73 C CCAG . 1/1 38 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.66234 0.66230 None None None None None None None

C10orf113

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs72102767,rs45546236
dbSNP
21435340 6491.73 ACACT A . 0/1 221 FRAME_SHIFT HIGH 0.25160 0.25160 0.19292 None None None None None None None

C11orf40

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs71280817
dbSNP
4592708 6117.73 C CAG . 1/1 124 FRAME_SHIFT HIGH 0.57612 None None None None None None None

C11orf91

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs11606523
dbSNP
33721150 353.77 G A . 0/1 37 MOTIF[MA0093.1:USF1] LOW 0.00839 0.00839 None None None None None None None

C12orf43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs2258227
dbSNP
121454257 3597.77 T A . 1/1 105 START_GAINED LOW 0.78474 0.78470 0.25142 None None None None None None None

C12orf56

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs113411861,rs10671017
dbSNP
64712546 3089.73 A AGTT . 0/1 158 CODON_INSERTION MODERATE 0.43810 0.43810 0.45456 None None None None None None None

C14orf180

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs111285011,rs750841137,rs11278058,rs569942489
dbSNP
105055118 1761.73 TG... T . 1/1 24 CODON_DELETION MODERATE 0.60144 0.60140 0.37790 None None None None None None None

C14orf23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs56025822,rs71101677
dbSNP
29261309 6226.73 A AAAC . 0/1 240 CODON_INSERTION MODERATE 0.28894 0.42170 None None None None None None None

C17orf100

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs56268735,rs397697335
dbSNP
6555546 2116.73 C CG . 1/1 54 FRAME_SHIFT HIGH 0.99980 0.99980 0.00401 None None None None None None None

C18orf25

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs34068795,rs397790301
dbSNP
43833701 2691.73 T TCTG . 0/1 125 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.69269 0.69270 None None None None None None None

C21orf49

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs72564613
dbSNP
34169317 2415.73 C CT . 1/1 55 FRAME_SHIFT HIGH 0.73183 0.73180 None None None None None None None

C22orf34

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs748558912
dbSNP
50018283 1082.73 T TC . 0/1 72 FRAME_SHIFT HIGH None None None None None None None

C22orf43

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs10564183,rs142649853,rs3831377,rs66974032
dbSNP
23964282 4309.73 GCAT G . 0/1 245 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.12400 0.12400 None None None None None None None

C6orf164

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs67076383,rs368228855
dbSNP
88108048 6635.73 AGAT A . 1/1 116 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.71146 0.71150 None None None None None None None

C8orf59

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs112611553
dbSNP
86126827 9792.73 C CA... . 1/1 119 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None None

CA2

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs703
dbSNP
86389403 1102.77 T C . 0/1 61 PROTEIN_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None None

CARD10

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs113275238,rs60611523
dbSNP
37906308 864.73 GC... G . 0/1 29 CODON_DELETION MODERATE 0.01777 0.30970 None None None None None None None

CCDC129

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs567140275,rs35589779
dbSNP
31697913 2647.73 C CT . 0/1 113 FRAME_SHIFT HIGH 0.35923 0.35920 None None None None None None None

CCDC33

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs10552820,rs35899977,rs397774110
dbSNP
74536400 2194.73 TAAG T . 1/1 42 CODON_DELETION MODERATE 0.37700 0.37700 0.46150 None None None None None None None

CCDC66

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs77152637
dbSNP
56650051 4095.73 A ACTT . 0/1 206 CODON_INSERTION MODERATE 0.32270 0.41017 None None None None None None None

CCDC74B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2292302,rs60152285
dbSNP
130902194 169.77 C T . 0/1 47 SPLICE_SITE_REGION LOW 0.44369 0.44370 0.16 0.63 None None None None None None None

CCNB1IP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1132644
dbSNP
20784718 773.77 G T . 0/1 63 SPLICE_SITE_REGION LOW 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None None

CCT5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs2578618
dbSNP
10250443 481.77 T C . 0/1 36 START_GAINED LOW 0.68530 0.68530 0.28195 0.00 None None None None None None None

CD180

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1697144
dbSNP
66480004 7707.77 T C . 1/1 221 PROTEIN_INTERACTION_LOCUS HIGH 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None None

CD207

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11450450,rs397692276
dbSNP
71062833 1913.73 G GC . 1/1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00025 None None None None None None None

CD3EAP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs35729377,rs374686338
dbSNP
45912489 1272.73 CAAG C . 0/1 73 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

CDCP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs36013100
dbSNP
54605319 852.73 G GC . 0/1 40 FRAME_SHIFT HIGH 0.47983 0.47980 None None None None None None None
View mm170241ct 1 rs76608277,rs3841798
dbSNP
54605318 741.73 T TG . 1/1 39 FRAME_SHIFT HIGH 0.18150 None None None None None None None

CDK11A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs144636354,rs199866927
dbSNP
1647893 3778.73 C CT... . 0/1 128 CODON_INSERTION MODERATE None None None None None None None

CDK13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 . 39990940 614.73 C CG... . 0/1 18 CODON_INSERTION MODERATE None None None None None None None

CDK5RAP3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs2905846
dbSNP
46048592 220.77 A G . 0/1 17 MOTIF[MA0062.2:Gabp] LOW 0.69149 0.69150 0.30004 0.00 None None None None None None None

CDKN2AIP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs147291711,rs10533201
dbSNP
184367558 3512.73 TCTG T . 0/1 141 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.36302 0.36300 0.44257 None None None None None None None

CDRT4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs71150251,rs397729402
dbSNP
15343524 2464.73 C CCTT . 1/1 52 CODON_INSERTION+SPLICE_SITE_REGION MODERATE 0.97045 0.97040 0.03092 None None None None None None None

CELA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs17860363
dbSNP
51723598 1352.73 A AG . 0/1 79 FRAME_SHIFT HIGH 0.14557 0.14560 0.24992 None None None None None None None

CHD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs138635992
dbSNP
98192164 3264.73 AAGG A . 0/1 164 CODON_DELETION MODERATE 0.21266 0.21270 0.29454 None None None None None None None

CHI3L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs880633
dbSNP
203152801 243.77 T C . 0/1 17 PROTEIN_INTERACTION_LOCUS HIGH 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None None

CHIA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2275253
dbSNP
111861841 2623.77 A G . 1/1 73 PROTEIN_INTERACTION_LOCUS HIGH 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None None

CLCA4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs4001061,rs77067122
dbSNP
87045896 12770.73 TC... T . 0/1 434 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.70707 0.70710 None None None None None None None

CLDN16

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs56086318,rs368234054
dbSNP
190106071 1590.73 AG A . 0/1 83 FRAME_SHIFT HIGH 0.11701 0.11700 None None None None None None None

CLECL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs71045297,rs113222621
dbSNP
9885707 6177.73 A AT... . 0/1 223 FRAME_SHIFT HIGH 0.54872 0.54870 0.43154 None None None None None None None

CLTCL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs11386977
dbSNP
19189003 1606.73 A AC . 1/1 40 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00051 None None None None None None None

COL18A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs149296338,rs78227997
dbSNP
46924425 1379.73 CG... C . 1/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None

COL26A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs36008849,rs398095266
dbSNP
101200669 2025.73 A AG . 1/1 59 FRAME_SHIFT HIGH 1.00000 1.00000 0.00137 None None None None None None None

COL6A5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs11355796,rs869228190,rs398091810
dbSNP
130190720 3180.74 AT A . 0/1 195 FRAME_SHIFT HIGH 0.49161 0.49160 None None None None None None None