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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AARS2, ALDH5A1, ATXN1, BTNL2, C2, C4A, CD2AP, CDKAL1, COL11A2, COL12A1, CYP21A2, DCDC2, DSP, DTNBP1, ELOVL5, EYS, F13A1, FAM65B, FANCE, FARS2, FOXC1, GCM2, GCNT2, GNMT, HFE, ITPR3, KIAA0319, LAMA2, LTA, MAK, NCR3, NEU1, NHLRC1, POLH, PPP2R5D, RIMS1, SERPINB6, SKIV2L, SLC17A3, SOBP, SOD2, SYNGAP1, TAP1, TAPBP, TDP2, TNF, TNXB, TPMT, TUBB, TUBB2A, UQCC2, VARS2,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (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)
CDKAL1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL12A1 ?Ullrich congenital muscular dystrophy 2, 616470 (3)
Bethlem myopathy 2, 616471 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
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)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FARS2 ?Spastic paraplegia 77, autosomal recessive, 617046 (3)
Combined oxidative phosphorylation deficiency 14, 614946 (3)
FOXC1 Axenfeld-Rieger syndrome, type 3, 602482 (3)
Iridogoniodysgenesis, type 1, 601631 (3)
Iris hypoplasia and glaucoma, 601631 (3)
Rieger or Axenfeld anomalies, 602482 (3)
GCM2 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)
GNMT Glycine N-methyltransferase deficiency, 606664 (3)
HFE Hemochromatosis, 235200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TNF {Asthma, susceptibility to}, 600807 (3)
{Dementia, vascular, susceptibility to} (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Migraine without aura, susceptibility to}, 157300 (3)
{Septic shock, susceptibility to} (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
UQCC2 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)

Genes at Clinical Genomics Database

AARS2, ALDH5A1, ATXN1, C2, C4A, CD2AP, COL11A2, COL12A1, CYP21A2, DCDC2, DSP, DTNBP1, ELOVL5, EYS, F13A1, FAM65B, FANCE, FARS2, FOXC1, GCM2, GCNT2, GNMT, HFE, LAMA2, MAK, NEU1, NHLRC1, POLH, PPP2R5D, RIMS1, SERPINB6, SKIV2L, SOBP, SYNGAP1, TAP1, TAPBP, TDP2, TNXB, TPMT, TUBB, TUBB2A, UQCC2, VARS2,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ATXN1 Spinocerebellar ataxia 1
C2 Complement component 2 deficiency
C4A Blood group, Chido/Rodgers system
CD2AP Focal segmental glomerulosclerosis 3
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL12A1 Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNBP1 Hermansky-Pudlak syndrome 7
ELOVL5 Spinocerebellar ataxia 39
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
FARS2 Combined oxidative phosphorylation deficiency 14
FOXC1 Iridogoiodysgenesis, type 1
Axenfeld-Rieger syndrome, type 3
Peters anomaly
GCM2 Hypoparathyroidism, familial isolated
GCNT2 Cataract 13 with adult i phenotype
Adult i phenotype without cataract
Blood group, Ii
GNMT Glycine N-methyltransferase deficiency
HFE Hemochromatosis
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
MAK Retinitis pigmentosa 62
NEU1 Sialidosis, type II
Sialidosis, type I
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
POLH Xeroderma pigmentosum, variant type
PPP2R5D Mental retardation, autosomal dominant 35
RIMS1 Cone-rod dystrophy 7
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SYNGAP1 Mental retardation, autosomal dominant 5
TAP1 Bare lymphocyte syndrome, type I
TAPBP Bare lymphocyte syndrome, type I
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TPMT Thiopurine S-methyltransferase deficiency
TUBB Cortical dysplasia, complex, with other brain malformations 6
Congenital symmetric circumferential skin creases 1
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VARS2 Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 6338
Number of Genes: 176

Export to: CSV

AARS2

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 23 recalibrated filtered postcgp gqfiltered 6 . 44272456 4255.87 C G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 44272822 7310.76 C T PASS 1/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None

ADTRP

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 23 recalibrated filtered postcgp gqfiltered 6 . 11723599 38041.98 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None

AL033381.1

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 23 recalibrated filtered postcgp gqfiltered 6 . 1102083 528.32 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 None None None None None None None

ALDH5A1

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 23 recalibrated filtered postcgp gqfiltered 6 . 24520633 249.71 AGT AG... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 32095904 4114.42 C T PASS 0/1 117 STOP_GAINED HIGH NONSENSE 4.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 32088803 3559.33 A C PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 2.61 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 31509904 114694.7 A G PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.00 0.96 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 16327633 1940.98 GT... GT... PASS 0/1 17 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 16327384 71001.13 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None None None None None None None

BMP6

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 23 recalibrated filtered postcgp gqfiltered 6 . 7727289 1443.72 G GAGC PASS 0/1 63 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 rs768025593
dbSNP
7727698 848.23 G A PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 26501549 26118.73 C G PASS 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26505175 88823.73 C A PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26509102 141053.73 C G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 -1.11 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 26392933 3701.57 A C PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 -1.24 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26392689 3403.4 T A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 3.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26392793 117248.14 G A PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

BTN3A1

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 23 recalibrated filtered postcgp gqfiltered 6 . 26413516 8156.35 C A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.73 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26413747 4487.39 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.68 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26412936 777.23 CAG C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 rs540333878
dbSNP
26405825 37170.8 C T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26413832 945.48 G T PASS 0/1 21 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 26368710 49285.86 C T PASS 0/1 279 None None None 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26368852 1426.39 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.98 None None None None None None None

BTN3A3

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 23 recalibrated filtered postcgp gqfiltered 6 . 26445981 14246.39 C T PASS 0/1 195 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BTNL2

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 23 recalibrated filtered postcgp gqfiltered 6 . 32364221 131.27 G A PASS 0/1 13 None None None None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 31896527 233555.64 G A PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 31959565 37469.54 A G PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31961237 123457.04 A C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 -0.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31950687 10512.35 A G PASS 0/1 97 SYNONYMOUS_CODING LOW 1.66 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31968902 28040.27 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.88 1.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31968891 141133.68 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.16 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 32339483 40787.66 T G PASS 0/1 13 NON_SYNONYMOUS_START LOW MISSENSE 0.07 0.14 None None None None None None None

C6orf195

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 23 recalibrated filtered postcgp gqfiltered 6 . 2623696 11021.39 G A PASS 0/1 42 STOP_GAINED HIGH NONSENSE 0.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 2623819 11685.02 T A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.01 -0.39 None None None None None None None

C6orf201

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 23 recalibrated filtered postcgp gqfiltered 6 . 4122224 1086.77 CT C,CTT PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 36293081 82693.53 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.10 None None None None None None None

C6orf25

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 23 recalibrated filtered postcgp gqfiltered 6 . 31691954 4413.91 T G PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 31626851 44680.67 T A PASS 1/1 33 STOP_GAINED HIGH NONSENSE None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 7387229 1163.79 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7373974 9899.94 T G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.99 1.54 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 17541259 8912.64 G A PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 17541253 27236.73 G T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 17507439 42974.68 A G PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.26 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 17543071 286057.09 A G PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.96 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 44140061 1974.54 T C PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 rs777568339
dbSNP
31112694 1562.99 T C PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31111122 2274.74 G T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 47544817 21.65 TA T PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 20739776 9229.47 G C PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.35 None None None None None None None

CDYL

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 23 recalibrated filtered postcgp gqfiltered 6 . 4935780 4333.4 C G PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 4716024 5925.61 G A PASS 0/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 4935840 109257.89 T G PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54 0.01 None None None None None None None

CLIC1

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 23 recalibrated filtered postcgp gqfiltered 6 . 31701372 9191.78 TAC T PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

COL11A2

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 23 recalibrated filtered postcgp gqfiltered 6 . 33133569 362.28 C A PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33133423 1023.07 T TA PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33133425 1021.65 C T PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

COL12A1

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 23 recalibrated filtered postcgp gqfiltered 6 . 75848663 7127.7 A C PASS 0/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None

CPNE5

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 23 recalibrated filtered postcgp gqfiltered 6 . 36733122 597.23 T G PASS 0/1 40 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 36746714 4310.69 G A PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CYP21A2

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 23 recalibrated filtered postcgp gqfiltered 6 . 32006946 15306.7 A G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 32007374 4217.98 T G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 32007800 318.23 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 32007336 5229.86 G C PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None

DAXX

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 23 recalibrated filtered postcgp gqfiltered 6 . 33287326 62475.57 A C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33286779 122775.36 C CG PASS 1/1 40 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33286888 38403.23 A G PASS 1/1 81 SYNONYMOUS_CODING LOW 5.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33287592 16521.23 C T PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.40 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33288319 239027.57 A T PASS 1/1 28 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33288620 15488.4 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33288694 104255.2 T C PASS 1/1 59 STOP_GAINED HIGH NONSENSE -0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33288757 1754.57 A C PASS 0/1 83 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 33289207 37397.57 C T PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DCDC2

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 23 recalibrated filtered postcgp gqfiltered 6 . 24357974 3700.47 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.24 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 24357774 1783.63 G A PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 6 . 31506911 33981.5 T G PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DHX16

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 23 recalibrated filtered postcgp gqfiltered 6 . 30640496 22403.27 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

DNAH8

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 23 recalibrated filtered postcgp gqfiltered 6 . 38851742 392.63 A T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 38917234 107649.8 TA T PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None

DPCR1

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 23 recalibrated filtered postcgp gqfiltered 6 . 30916659 2125.04 A G PASS 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30917862 1868.36 A G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30917029 54790.63 A C PASS 0/1 36 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30917909 1407.74 T A PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30920195 16659.0 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30919567 19931.63 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30920003 58168.66 C CT... PASS 1/1 4 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 30920211 24455.63 C T PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.01 None None None None None None None

DSP

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 23 recalibrated filtered postcgp gqfiltered 6 . 7571641 151128.65 G A PASS 1/1 47 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7585734 215157.99 G C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7586075 3205.17 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7571793 92666.07 T A PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7570730 42049.41 A G PASS 1/1 15 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7568121 10988.51 G T PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7565652 11070.85 G A PASS 1/1 48 PROTEIN_INTERACTION_LOCUS HIGH 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 7578110 12867.1 G C PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DTNBP1

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 23 recalibrated filtered postcgp gqfiltered 6 . 15533502 19191.82 C T PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 15533609 905.69 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 1.00 None None None None None None None

DUSP22

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 23 recalibrated filtered postcgp gqfiltered 6 rs11242812
dbSNP
348906 28005.99 G A PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 rs1129085
dbSNP
350829 75438.42 G A PASS 0/1 77 None None None 0.35730 None None None None None None None