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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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

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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ATXN1, C2, C4A, CD2AP, COL11A2, COL12A1, CUL7, CYP21A2, DEK, DSP, DST, DTNBP1, EDN1, ELOVL5, ESR1, FANCE, FARS2, FBXL4, GCM2, GCNT2, HFE, HIST1H1E, ICK, LAMA2, LYRM4, MAK, MOCS1, NEU1, NHLRC1, PEX3, PHACTR1, PPP2R5D, PRPH2, RIMS1, RIPK1, SERPINB6, SKIV2L, SLC17A3, SOD2, SYNE1, SYNGAP1, TBC1D7, TDP2, TNXB, TPMT, TUBB2A, UQCC2,
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
C2 C2 deficiency, 217000 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
COL11A2 Fibrochondrogenesis 2, 614524 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
CUL7 3-M syndrome 1, 273750 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DEK Leukemia, acute nonlymphocytic (2)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
EDN1 {High density lipoprotein cholesterol level QTL 7} (3)
Auriculocondylar syndrome 3, 615706 (3)
Question mark ears, isolated, 612798 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
GCM2 Hyperparathyroidism 4, 617343 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
HFE Hemochromatosis, 235200 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
HIST1H1E Rahman syndrome, 617537 (3)
ICK Endocrine-cerebroosteodysplasia, 612651 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LYRM4 ?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
PEX3 Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)
?Peroxisome biogenesis disorder 10B, 617370 (3)
PHACTR1 Epileptic encephalopathy, early infantile, 70, 618298 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRPH2 Choroidal dystrophy, central areolar 2, 613105 (3)
Leber congenital amaurosis 18, 608133 (3)
Macular dystrophy, patterned, 1, 169150 (3)
Macular dystrophy, vitelliform, 3, 608161 (3)
Retinitis pigmentosa 7 and digenic form, 608133 (3)
Retinitis punctata albescens, 136880 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
UQCC2 Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)

Genes at Clinical Genomics Database

ATXN1, C2, C4A, CD2AP, COL11A2, COL12A1, CUL7, CYP21A2, DSP, DST, DTNBP1, EDN1, ELOVL5, ESR1, FAM65B, FANCE, FARS2, FBXL4, GCM2, GCNT2, HFE, ICK, LAMA2, LYRM4, MAK, MOCS1, NEU1, NHLRC1, PEX3, PPP2R5D, PRPH2, RIMS1, SERPINB6, SKIV2L, SYNE1, SYNGAP1, TBC1D7, TDP2, TNXB, TPMT, TUBB2A, UQCC2,
ATXN1 Spinocerebellar ataxia 1
C2 Complement component 2 deficiency
C4A Blood group, Chido/Rodgers system
CD2AP Focal segmental glomerulosclerosis 3
COL11A2 Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
CUL7 Three M syndrome 1
Yakut short stature syndrome
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST Neuropathy, hereditary sensory and autonomic, type VI
DTNBP1 Hermansky-Pudlak syndrome 7
EDN1 Dominant Isolated Question-Mark Ears
Auriculocondylar Syndrome 3
ELOVL5 Spinocerebellar ataxia 39
ESR1 Estrogen resistance
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
FARS2 Combined oxidative phosphorylation deficiency 14
FBXL4 Mitochondrial DNA depletion syndrome 13
GCM2 Hypoparathyroidism, familial isolated
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
HFE Hemochromatosis
ICK Endocrine-cerebroosteodysplasia
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LYRM4 Combined oxidative phosphorylation deficiency 19
MAK Retinitis pigmentosa 62
MOCS1 Molybdenum cofactor deficiency, type A
NEU1 Sialidosis, type I
Sialidosis, type II
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
PEX3 Peroxisome biogenesis factor disorder 3
Zellwegger syndrome complementation group G
PPP2R5D Mental retardation, autosomal dominant 35
PRPH2 Choriodal dystrophy, central areolar 2
Retinitis punctata albescens
Macular dystrophy, vitelliform 3
Macula dystrophy, patterned 1
Retinitis pigmentosa 7
RIMS1 Cone-rod dystrophy 7
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1 Mental retardation, autosomal dominant 5
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT Thiopurine S-methyltransferase deficiency
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
UQCC2 Mitochondrial complex III deficiency, nuclear type 7

Genes at HGMD

Summary

Number of Variants: 8699
Number of Genes: 192

Export to: CSV

ABCF1

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 1353s 6 . 30553360 4324.9 G A PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None ABCF1|0.199313589|36.78%

ADTRP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1353s 6 . 11778855 1046.92 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None ADTRP|0.023894479|72.25%
View 1353s 6 . 11770279 701.16 T G PASS 0/1 29 None None None None None None None None None ADTRP|0.023894479|72.25%

APOM

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 1353s 6 . 31625043 1130.92 C T PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None APOM|0.162107126|41.28%

ARMC2

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 1353s 6 rs774806989
dbSNP Clinvar
109286285 1764.92 G A PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None ARMC2|0.059551834|60.01%
View 1353s 6 . 109286246 1417.92 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None ARMC2|0.059551834|60.01%

ATF6B

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 1353s 6 . 32094910 327.16 G A PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None ATF6B|0.118552355|47.66%
View 1353s 6 . 32095904 2040.13 C T PASS 0/1 149 STOP_GAINED HIGH NONSENSE None None None None None None ATF6B|0.118552355|47.66%
View 1353s 6 . 32088803 1284.13 A C PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None ATF6B|0.118552355|47.66%

ATP6V1G2-DDX39B

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 1353s 6 . 31509904 6668.16 A G PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.00 None None None None None None DDX39B|0.561131797|13.31%

ATXN1

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 1353s 6 . 16307064 390.92 C G PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None ATXN1|0.832563526|5.05%
View 1353s 6 . 16327384 10929.9 A G PASS 1/1 120 SYNONYMOUS_CODING LOW None None None None None None ATXN1|0.832563526|5.05%
View 1353s 6 . 16327099 4401.92 T C PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None ATXN1|0.832563526|5.05%

BAG6

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 1353s 6 . 31615378 3786.92 G A PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.45 None None None None None None BAG6|0.203831216|36.26%

BAI3

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 1353s 6 . 70098662 1064.9 C T PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.21 None None None None None None ADGRB3|0.918272143|3.02%

BTN1A1

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 1353s 6 . 26505175 3728.92 C A PASS 0/1 103 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN1A1|0.010791735|80.28%
View 1353s 6 . 26509102 3822.92 C G PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.85 None None None None None None BTN1A1|0.010791735|80.28%
View 1353s 6 . 26501549 4332.92 C G PASS 0/1 120 SYNONYMOUS_CODING LOW None None None None None None BTN1A1|0.010791735|80.28%

BTN2A1

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 1353s 6 . 26460026 695.97 T C PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.27 None None None None None None BTN2A1|0.002518088|89.63%

BTN2A2

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 1353s 6 . 26392793 5986.92 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None BTN2A2|0.003176243|88.35%
View 1353s 6 . 26388444 790.92 C T PASS 0/1 32 STOP_GAINED HIGH NONSENSE None None None None None None BTN2A2|0.003176243|88.35%

BTN3A2

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 1353s 6 . 26370778 548.16 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31 0.22 None None None None None None BTN3A2|0.000374625|99.12%

C2

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 1353s 6 . 31896527 9877.16 G A PASS 1/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None C2|0.093069638|52.58%,CFB|0.075141437|56.27%

C4A

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 1353s 6 . 31968902 2720.13 C T PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.89 None None None None None None C4A|0.012992445|78.51%
View 1353s 6 . 31968891 11431.16 T C PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None C4A|0.012992445|78.51%
View 1353s 6 . 31966595 425.13 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None C4A|0.012992445|78.51%
View 1353s 6 . 31961237 6931.16 A C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None C4A|0.012992445|78.51%
View 1353s 6 . 31960914 1605.16 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None C4A|0.012992445|78.51%
View 1353s 6 . 31959565 1084.16 A G PASS 1/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None C4A|0.012992445|78.51%

C6orf10

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 1353s 6 . 32335734 1646.92 G A PASS 0/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None C6orf10|0.001183307|94.56%
View 1353s 6 . 32339483 1028.92 T G PASS 0/1 19 NON_SYNONYMOUS_START LOW MISSENSE 0.07 0.99 None None None None None None C6orf10|0.001183307|94.56%

C6orf222

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 1353s 6 . 36293081 1354.13 C T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.65 None None None None None None C6orf222|0.001542596|92.56%

C6orf229

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 1353s 6 . 24799050 782.14 C T PASS 0/1 9 STOP_GAINED HIGH NONSENSE None None None None None None FAM65B|0.070669833|57.32%

C6orf47

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 1353s 6 . 31627710 3653.92 A G PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT None None None None None None C6orf47|0.057785703|60.46%
View 1353s 6 . 31626851 16225.9 T A PASS 1/1 178 STOP_GAINED HIGH NONSENSE None None None None None None C6orf47|0.057785703|60.46%

CAGE1

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 1353s 6 . 7355285 1709.16 C T PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None CAGE1|0.006487413|84.08%
View 1353s 6 . 7386048 532.17 A T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.13 None None None None None None CAGE1|0.006487413|84.08%
View 1353s 6 . 7387229 1088.16 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.03 None None None None None None CAGE1|0.006487413|84.08%

CAP2

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 1353s 6 . 17551765 971.16 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.53 None None None None None None CAP2|0.167399456|40.61%
View 1353s 6 . 17426902 577.17 G A PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.01 None None None None None None CAP2|0.167399456|40.61%
View 1353s 6 . 17507439 2551.9 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.96 None None None None None None CAP2|0.167399456|40.61%
View 1353s 6 . 17543071 5122.9 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.80 None None None None None None CAP2|0.167399456|40.61%

CAPN11

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 1353s 6 . 44140061 988.14 T C PASS 1/1 15 SYNONYMOUS_CODING LOW None None None None None None CAPN11|0.010375422|80.57%

CCHCR1

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 1353s 6 rs777568339
dbSNP Clinvar
31112694 2320.9 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.93 None None None None None None CCHCR1|0.032661886|68.3%

CD2AP

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 1353s 6 . 47522457 1320.13 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None None None None None None CD2AP|0.343657419|24.58%

CDKAL1

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 1353s 6 . 20739788 766.92 C T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None CDKAL1|0.850963692|4.62%
View 1353s 6 . 20649577 268.16 C A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None CDKAL1|0.850963692|4.62%
View 1353s 6 . 20546657 1725.9 T G PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None CDKAL1|0.850963692|4.62%
View 1353s 6 . 20846372 1406.9 C A PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None CDKAL1|0.850963692|4.62%
View 1353s 6 . 21231243 214.17 C G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82 0.00 None None None None None None CDKAL1|0.850963692|4.62%
View 1353s 6 . 20546595 2205.16 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.37 None None None None None None CDKAL1|0.850963692|4.62%

CDYL

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 1353s 6 rs371683698
dbSNP Clinvar
4716047 236.13 G A PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.00 0.09 None None None None None None CDYL|0.153133689|42.52%
View 1353s 6 . 4716024 227.13 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT None None None None None None CDYL|0.153133689|42.52%
View 1353s 6 . 4935840 4881.9 T G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54 0.01 None None None None None None CDYL|0.153133689|42.52%

CEP57L1

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 1353s 6 . 109477080 416.16 T C PASS 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None CEP57L1|0.069262021|57.68%

COL11A2

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 1353s 6 rs746286026
dbSNP Clinvar
33137260 458.17 C T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None COL11A2|0.304557874|27.33%

COL12A1

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 1353s 6 . 75848663 1470.92 A C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.99 None None None None None None COL12A1|0.494206072|16.13%
View 1353s 6 . 75823002 179.13 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None COL12A1|0.494206072|16.13%

CPNE5

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 1353s 6 . 36746667 255.13 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None CPNE5|0.175375504|39.59%
View 1353s 6 . 36746714 546.17 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None CPNE5|0.175375504|39.59%

CSNK2B

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 1353s 6 . 31637671 5499.9 C G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.00 None None None None None None CSNK2B|0.799053456|5.87%

CUL7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1353s 6 . 43021551 909.16 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.00 None None None None None None CUL7|0.094717555|52.2%,KLC4|0.296811456|27.9%
View 1353s 6 . 43021504 723.16 T C PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None CUL7|0.094717555|52.2%,KLC4|0.296811456|27.9%
View 1353s 6 . 43010588 3052.16 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None None None None None None CUL7|0.094717555|52.2%,KLC4|0.296811456|27.9%

CYP21A2

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 . 32008772 879.13 G A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.89 None None None None None None CYP21A2|0.039907204|65.79%
View 1353s 6 . 32007374 1191.13 T G PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70 0.01 None None None None None None CYP21A2|0.039907204|65.79%
View 1353s 6 . 32007336 1101.13 G C PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.02 None None None None None None CYP21A2|0.039907204|65.79%
View 1353s 6 . 32006228 2018.93 C T PASS 0/1 79 SYNONYMOUS_CODING LOW None None None None None None CYP21A2|0.039907204|65.79%

DAXX

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 . 33288319 7024.9 A T PASS 1/1 158 SYNONYMOUS_CODING LOW None None None None None None DAXX|0.484012387|16.54%
View 1353s 6 . 33289207 6085.9 C T PASS 1/1 131 SYNONYMOUS_CODING LOW SILENT None None None None None None DAXX|0.484012387|16.54%
View 1353s 6 . 33287326 4990.9 A C PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None DAXX|0.484012387|16.54%
View 1353s 6 . 33288694 9622.16 T C PASS 1/1 171 STOP_GAINED HIGH NONSENSE None None None None None None DAXX|0.484012387|16.54%

DDX39B

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 . 31506911 3503.16 T G PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT None None None None None None DDX39B|0.561131797|13.31%

DEK

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 1353s 6 rs201160399
dbSNP Clinvar
18258285 5069.16 G A PASS 0/1 81 STOP_GAINED HIGH NONSENSE None None None None None None DEK|0.839668154|4.89%
View 1353s 6 . 18264124 1422.16 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.94 None None None None None None DEK|0.839668154|4.89%

DNAH8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1353s 6 . 38906612 472.18 T C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.93 None None None None None None DNAH8|0.998961058|0.42%
View 1353s 6 . 38805757 253.51 A G PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.27 None None None None None None DNAH8|0.998961058|0.42%

DPCR1

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 . 30919567 935.16 T C PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.85 None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30919534 687.17 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 1.00 None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30918044 275.93 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30917909 2732.16 T A PASS 0/1 43 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30917862 4393.16 A G PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38 0.21 None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30917029 6662.16 A C PASS 0/1 130 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30916659 751.17 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None DPCR1|0.000518122|98.34%
View 1353s 6 . 30920211 6806.16 C T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None DPCR1|0.000518122|98.34%

DSP

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 1353s 6 . 7580963 3403.16 G A PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7571641 1698.16 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7578110 696.26 G C PASS 1/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7578737 1077.29 C T PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27 0.99 None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7586075 48.93 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7585734 9403.13 G C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.47 None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7585437 3595.16 C A PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7570730 288.16 A G PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None DSP|0.573194355|12.87%
View 1353s 6 . 7570749 232.16 C G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None DSP|0.573194355|12.87%

DST

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 1353s 6 . 56473766 1091.92 G T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 None None None None None None DST|0.807318345|5.62%
View 1353s 6 . 56469796 1311.92 A T PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None DST|0.807318345|5.62%
View 1353s 6 . 56468949 467.13 A G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75 None None None None None None DST|0.807318345|5.62%
View 1353s 6 . 56494236 2403.92 C A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None DST|0.807318345|5.62%

DTNBP1

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 . 15533527 1860.16 G A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None DTNBP1|0.148024092|43.28%

DUSP22

Omim - GeneCards - NCBI
Options Individual Chr
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 1353s 6 rs11242812
dbSNP Clinvar
348906 5354.92 G A PASS 0/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None DUSP22|0.182900115|38.68%