SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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

GRK1, SGCG, ZIC2,
GRK1 Oguchi disease-2, 613411 (3)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

GRK1, SGCG, ZIC2,
GRK1 Oguchi disease 2
SGCG Muscular dystrophy, limb-girdle, type 2C
ZIC2 Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 2417
Number of Genes: 16

Export to: CSV

ATP11A

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 13 . 113344736 28813.29 C A,* PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113490527 559.64 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113459281 526.63 G A PASS 0/1 59 STOP_GAINED HIGH NONSENSE None None None None None None None

FAM194B

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 13 . 46154789 54137.55 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None

FOXO1

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 13 . 41240141 27804.79 C T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.26 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 41240162 1994.75 CA C,CAA PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None

GRK1

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 13 . 114325924 16801.39 T C PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.98 None None None None None None None

MCF2L

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 13 . 113735549 465.53 C T PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113735530 595.06 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

N4BP2L2

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 13 . 33016713 26639.04 T C PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.00 None None None None None None None

PAN3

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 13 . 28713189 756.63 C A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 4.74 None None None None None None None

PCID2

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 13 . 113834544 5423.07 C T PASS 0/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113835487 8437.94 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None None None None None None None

SGCG

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 13 . 23869624 17729.17 T C PASS 1/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

SPATA13

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 13 . 24845038 156081.65 A G PASS 1/1 37 None None None 0.06 0.31 None None None None None None None

TUBA3C

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 13 . 19751485 73143.06 C G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.49 None None None None None None None

TUBGCP3

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 13 . 113208487 7677.28 G A PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113158954 309.66 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113159007 217.29 G A PASS 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 0.01 None None None None None None None

VWA8

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 13 . 42295584 56752.13 A AG PASS 1/1 20 FRAME_SHIFT HIGH None None None None None None None

XPO4

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 13 . 21375128 686.33 T C PASS 0/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.93 None None None None None None None

ZIC2

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 13 . 100637744 62653.49 C A PASS 1/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 100635086 26910.17 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT -0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 100634670 117710.93 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 100635150 21712.52 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 100637715 47047.84 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 100635111 63123.06 T C PASS 1/1 50 SYNONYMOUS_CODING LOW None None None None None None None

ZMYM2

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 13 . 20567343 671.94 G A PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.78 None None None None None None None
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 13 . 114015288 95482.13 A G PASS 0/1 120 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 114015172 99595.13 A C PASS 0/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 114013383 3007.71 C CT... PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 114013117 13448.17 C T PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 114009337 80628.9 C T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 114007650 34629.29 C T PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113992636 3403.75 G C PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113981948 26749.13 A G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113981629 102312.24 G A PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113977776 1286.94 G C PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113842982 249.26 G T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113842952 1017.4 A G PASS 1/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113839885 29615.0 G A PASS 0/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113835744 4771.96 ACT A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113822288 1348.64 G T PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113821083 7354.49 C T,CA PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113811945 56309.28 T A,... PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113811934 4339.02 GTT GT... PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113804867 26354.0 G A PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113804863 43909.34 A G PASS 1/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113804736 102.06 CT... C PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800976 1169.22 G A,* PASS 0/2 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800975 1209.69 C T,* PASS 0/2 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800943 9484.04 A G,* PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800942 9487.04 C T,* PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800934 3725.12 C T,* PASS 0/2 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800924 3843.84 CG... TG... PASS 0/3 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800922 3524.89 A G,* PASS 0/2 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113800902 3090.24 GC... G,... PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113799443 27581.69 T C PASS 1/1 86 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113795389 6390.81 T C PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113768927 7451.04 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 113766461 4197.35 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110449584 868.16 C T PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110449405 470.35 A T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110446775 213702.7 G A PASS 1/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110446710 97035.06 G A PASS 1/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110446698 6218.39 C G PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110445991 54320.75 A T PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110445879 107410.71 C T PASS 1/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110445763 93450.41 C T PASS 1/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110439648 23299.75 T G PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110438810 7355.96 C A,... PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110425127 1250.67 C T PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110425103 27675.74 G A PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110425053 45876.1 AT A PASS 1/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110424850 143078.65 G A PASS 1/1 113 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110357731 2723.52 A G PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110340843 1898.26 G A PASS 1/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110307440 136.59 A G PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110307009 224.93 C G PASS 0/1 26 None None None 0.37 None None rs9515185 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110306784 203.48 A G PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110212049 41575.89 T C PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110211878 170635.8 A T PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110209438 211116.65 C G PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110207396 71694.69 C T PASS 1/1 78 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110207343 101040.4 A G PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110207187 4626.15 G C PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110205548 130587.69 A G PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110205476 133155.69 C T PASS 1/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110203738 19094.67 A G PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110198667 24024.21 G C PASS 0/1 90 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110198423 70611.79 T C PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110195250 26.95 CA C PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110194880 13131.09 G T PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110192967 41684.04 G A PASS 1/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110192696 12770.67 A G PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110192374 16712.34 C T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110191638 2453.32 T C PASS 1/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110187081 72364.34 A G PASS 0/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110186356 129501.88 T C PASS 0/1 300 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 13 . 110186299 181463.64 A G PASS 0/1 200 None None None None None None None None None None