SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

DTNA, GNAL, LAMA1, LAMA3, MOCOS, NDUFV2, PIEZO2, SMCHD1,
DTNA Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
GNAL Dystonia 25, 615073 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Laryngoonychocutaneous syndrome, 245660 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
MOCOS Xanthinuria, type II, 603592 (3)
NDUFV2 Mitochondrial complex I deficiency, 252010 (3)
PIEZO2 Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, type 3, 114300 (3)
?Marden-Walker syndrome, 248700 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)

Genes at Clinical Genomics Database

DTNA, GNAL, LAMA1, LAMA3, NDUFV2, PIEZO2, SMCHD1,
DTNA Left ventricular noncompaction 1
GNAL Primary torsion dystonia
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
NDUFV2 Mitochondrial complex I deficiency
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2

Genes at HGMD

Summary

Number of Variants: 2047
Number of Genes: 42

Export to: CSV

ADCYAP1

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 18 . 907674 12275.98 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.31 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 907709 725.66 A G PASS 0/1 82 SYNONYMOUS_CODING LOW 1.18 None None None None None None None

ANKRD12

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 18 . 9255984 36607.74 A G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88 0.00 3.34 None None None None None None None

ANKRD30B

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 18 . 14848821 13824.12 C T PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT -0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 14852336 11625.56 C A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.96 0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 14752958 30814.81 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.41 None None None None None None None

ANKRD62

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 18 . 12096250 1018.69 G T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.16 0.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12115510 769.66 G A PASS 0/1 22 SYNONYMOUS_CODING LOW 2.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12124153 590.35 C G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.01 -2.76 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12125658 3856.69 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 -0.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12094032 446.37 G T PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12099655 879.75 T C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51 0.01 -1.68 None None None None None None None

ARHGAP28

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 18 . 6912144 32405.92 A C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.11 -1.60 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6889974 124190.55 A G PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6890435 28657.55 A G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.55 None None None None None None None

C18orf56

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 18 rs2853533
dbSNP
658064 6215.76 G C PASS 0/1 306 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33906 0.33910 0.20262 0.43 None None None None None None None

CBLN2

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 18 . 70205542 5708.4 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CDH7

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 18 . 63489373 143649.76 G C PASS 1/1 44 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 63477129 1643.35 G A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

CEP192

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 18 . 13038432 402.85 A G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13100452 9381.35 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.20 4.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13095610 134235.88 T C PASS 1/1 55 SYNONYMOUS_CODING LOW SILENT 0.21 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13068133 166366.04 T C PASS 1/1 69 SYNONYMOUS_CODING LOW 1.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13069783 172357.66 C T PASS 1/1 63 SYNONYMOUS_CODING LOW 1.12 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13092425 5865.35 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13001513 1281.46 G C PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT -1.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13116433 123559.66 G T PASS 1/1 73 SYNONYMOUS_CODING LOW SILENT 2.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13089490 250.63 A G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.90 -1.48 None None None None None None None

CETN1

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 18 rs61734344
dbSNP
580623 16448.29 T C PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17971 0.17970 0.16639 0.00 0.99 3.92 None None None None None None None

CIDEA

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 18 . 12254563 1528.74 C CC... PASS 0/1 42 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12254540 1347.02 C G PASS 0/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12254817 3236.22 A G PASS 0/1 83 None None None None None None None None None None

COLEC12

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 18 rs2305027
dbSNP
334742 20674.5 C T PASS 1/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36761 0.36760 0.42588 0.06 0.00 2.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs2305025
dbSNP
334994 38409.11 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62520 0.62520 0.38088 1.00 0.00 0.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs2305026
dbSNP
334758 42017.2 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.88498 0.88500 0.14363 None None None None None None None

DTNA

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 18 . 32470393 4251.42 C T PASS 0/1 66 None None None 0.01 0.33 None None None None None None None

EMILIN2

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 18 . 2885120 30443.19 C T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.38 None None None None None None None

EPB41L3

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 18 . 5410575 51478.97 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None None None None None None None

FAM210A

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 18 . 13681963 7324.57 A T PASS 0/1 54 SYNONYMOUS_CODING LOW -1.28 None None None None None None None

GNAL

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 18 rs532055871
dbSNP
11689700 1031.05 G A PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 -1.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs577163323
dbSNP
11689670 1084.08 CG... CG... PASS 0/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.00998 0.00998 0.23439 None None None None None None None

LAMA1

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 18 . 6980524 66952.54 T C PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 2.21 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 7017323 31561.23 A G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6997819 63503.5 A C PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.75 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6978346 13912.34 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6985271 36223.67 C T PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 1.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6977845 26768.94 A G PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31 0.00 1.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6943265 34149.67 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 7043336 24715.57 A G PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 4.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 7040198 5525.4 T C PASS 0/1 96 STOP_GAINED HIGH NONSENSE -0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6993674 34534.84 T C PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT -1.23 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6986260 34365.67 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6958610 39489.98 T C,G PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT -1.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6999629 24153.29 T C PASS 0/1 40 STOP_GAINED HIGH NONSENSE None None None None None None None

LAMA3

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 18 . 21485533 3560.54 C G PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT None None None None None None None

LDLRAD4

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 18 . 13642722 1588.31 T C PASS 1/1 38 None None None 0.01 0.00 None None None None None None None

MC5R

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 18 . 13826509 82829.65 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13826089 26284.26 C T PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 13826392 193007.65 C G PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 1.00 4.24 None None None None None None None

METTL4

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 18 . 2539017 280029.4 C G PASS 1/1 87 SYNONYMOUS_CODING LOW SILENT -0.58 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 2547481 9957.34 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.16 None None None None None None None

MOCOS

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 18 . 33840046 259.2 T C PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MPPE1

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 18 . 11886564 90243.1 C G PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.05 None None None None None None None

MYOM1

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 18 . 3168818 25380.78 G A PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs370304043
dbSNP
3173966 53205.34 G A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.86 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3188859 17599.36 A G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3188978 62909.77 A G PASS 0/1 68 SYNONYMOUS_CODING LOW 2.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3188875 12280.35 G A PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.50 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3164387 7972.27 C T PASS 1/1 34 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3176065 22508.61 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 3176042 31853.02 C G PASS 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT -1.05 None None None None None None None

NDC80

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 18 . 2595444 14855.26 G T PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.92 4.91 None None None None None None None

NDUFV2

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 18 . 9117869 130167.08 T C PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84 None None None None None None None

PIEZO2

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 18 . 10762964 2068.82 G A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10748605 944.58 A T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10787049 1881.75 G A PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10731430 1557.17 C T PASS 1/1 56 SYNONYMOUS_CODING LOW 0.89 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10758025 2133.63 G A PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10741013 2388.25 G A PASS 1/1 70 None None None 0.02 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 10763009 2283.85 T C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.99 None None None None None None None

POTEC

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 18 . 14542891 120809.52 G C PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.42 0.35 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 14533106 95246.51 G C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50 0.89 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 14543140 127658.83 T C PASS 1/1 67 SYNONYMOUS_CODING LOW -2.91 None None None None None None None

PTPRM

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 18 . 8069870 49108.59 C T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 8387221 60950.1 G C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.39 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 8387197 92154.07 G A PASS 0/1 37 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 8248337 4276.34 G T PASS 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 8248336 4273.34 A G PASS 1/1 57 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.15 0.00 None None None None None None None

RP11-683L23.1

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 18 rs12955069
dbSNP
49548 1664.78 T G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66953 0.66950 0.02 0.00 1.78 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs62075749
dbSNP
49549 1664.72 T C PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.66953 0.66950 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs62075716
dbSNP
49546 1664.74 G A PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.66733 0.66730 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs11875825
dbSNP
49125 4823.16 G T PASS 1/1 3 None None None 0.60483 0.60480 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs3812543
dbSNP
48197 10401.29 C T PASS 0/1 83 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs4798100
dbSNP
48191 167.63 G C PASS 0/1 94 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs200370756
dbSNP
48190 54.63 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.15 1.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs4798099
dbSNP
47974 4269.99 G T PASS 0/1 124 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs757737404
dbSNP
47809 1318.57 G A PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.00 3.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs10853307
dbSNP
47787 758.63 A G PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35 0.03 -1.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 47722 329.63 C T PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 -0.92 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs10853305
dbSNP
47692 28.63 A G PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.15 0.00 0.17 None None None None None None None