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

FYCO1, LARS2,
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
LARS2 Perrault syndrome 4, 615300 (3)
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)

Genes at Clinical Genomics Database

FYCO1, LARS2,
FYCO1 Cataract, autosomal recessive congenital 2
LARS2 Perrault syndrome 4

Genes at HGMD

Summary

Number of Variants: 390
Number of Genes: 4

Export to: CSV

CHRD

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 552217_ngs_ex annotated mendelmd 3 . 184105788 0.0 T C sbF 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.17 None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%

FYCO1

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 552217_ngs_ex annotated mendelmd 3 . 45979726 0.0 G T PASS 1/1 44 SYNONYMOUS_CODING LOW None None None None None None None FYCO1|0.053934949|61.49%

LARS2

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 552217_ngs_ex annotated mendelmd 3 . 45518027 0.0 T C PASS 1/1 105 SYNONYMOUS_CODING LOW None None None None None None None LARS2|0.092014629|52.81%

TRPC1

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 552217_ngs_ex annotated mendelmd 3 . 142522850 0.0 G GA sbF 0/1 36 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None TRPC1|0.474830679|16.97%
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 552217_ngs_ex annotated mendelmd 3 . 52819385 0.0 C T sbF 0/1 58 None None None None None None None None None ITIH1|0.047874237|63.37%
View 552217_ngs_ex annotated mendelmd 3 . 58105076 0.0 G A sbF 0/1 86 None None None None None None None None None FLNB|0.587014407|12.25%
View 552217_ngs_ex annotated mendelmd 3 . 58126713 0.0 A G PASS 1/1 71 None None None None None None None None None FLNB|0.587014407|12.25%
View 552217_ngs_ex annotated mendelmd 3 . 58131937 0.0 G A sbF 0/1 34 None None None None None None None None None FLNB|0.587014407|12.25%
View 552217_ngs_ex annotated mendelmd 3 . 58168450 0.0 G A PASS 0/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58168601 0.0 G A PASS 0/1 31 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58205515 0.0 C G PASS 0/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58210912 0.0 C T PASS 0/1 60 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58427681 0.0 A G PASS 0/1 18 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58427738 0.0 G C sbF 1/1 45 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58427791 0.0 T G sbF 0/1 80 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58427942 0.0 G T PASS 0/1 90 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 78651751 0.0 G T PASS 0/1 53 None None None None None None None None None ROBO1|0.905688682|3.33%
View 552217_ngs_ex annotated mendelmd 3 . 78668193 0.0 C T sbF 0/1 103 None None None None None None None None None ROBO1|0.905688682|3.33%
View 552217_ngs_ex annotated mendelmd 3 . 81594016 0.0 T C PASS 1/1 23 None None None None None None None None None GBE1|0.676333713|9.2%
View 552217_ngs_ex annotated mendelmd 3 . 108439727 0.0 C T PASS 1/1 70 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 108460372 0.0 CA C PASS 0/1 23 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 108470146 0.0 G A PASS 1/1 66 None None None None None None None None None RETNLB|0.001866785|91.35%
View 552217_ngs_ex annotated mendelmd 3 . 108470780 0.0 C T PASS 0/1 54 None None None None None None None None None RETNLB|0.001866785|91.35%
View 552217_ngs_ex annotated mendelmd 3 . 108510590 0.0 G GA PASS 0/1 33 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 111637236 0.0 G C PASS 1/1 38 None None None None None None None None None PHLDB2|0.248540603|31.67%
View 552217_ngs_ex annotated mendelmd 3 . 112466178 0.0 G A PASS 1/1 72 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 112471290 0.0 G T PASS 1/1 42 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 128486034 0.0 C G PASS 0/1 87 None None None None None None None None None RAB7A|0.236423966|32.78%
View 552217_ngs_ex annotated mendelmd 3 . 129433246 0.0 G A PASS 0/1 14 None None None None None None None None None TMCC1|0.404814621|20.48%
View 552217_ngs_ex annotated mendelmd 3 . 129436704 0.0 CT C PASS 0/1 117 None None None None None None None None None TMCC1|0.404814621|20.48%
View 552217_ngs_ex annotated mendelmd 3 . 129483544 0.0 G T sbF 0/1 131 None None None None None None None None None TMCC1|0.404814621|20.48%
View 552217_ngs_ex annotated mendelmd 3 . 130272820 0.0 C T PASS 1/1 70 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 130389132 0.0 A G PASS 0/1 87 None None None None None None None None None COL6A6|0.028594557|70.13%
View 552217_ngs_ex annotated mendelmd 3 . 130397852 0.0 A C PASS 1/1 149 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130405647 0.0 G A PASS 1/1 34 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130406145 0.0 C T PASS 1/1 68 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130406272 0.0 G C PASS 1/1 64 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130415648 0.0 T C sbF 1/1 30 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130443551 0.0 A G PASS 1/1 31 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130455490 0.0 G A PASS 1/1 30 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130468973 0.0 T C PASS 1/1 95 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 130730378 0.0 A G PASS 0/1 71 None None None None None None None None None ATP2C1|0.628730902|10.83%
View 552217_ngs_ex annotated mendelmd 3 . 132682756 0.0 C T PASS 0/1 80 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133448519 0.0 G A PASS 1/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133611099 0.0 G A PASS 1/1 39 None None None None None None None None None RAB6B|0.236649929|32.75%
View 552217_ngs_ex annotated mendelmd 3 . 133623144 0.0 T C PASS 0/1 37 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133637946 0.0 G A PASS 0/1 65 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133643310 0.0 A G PASS 0/1 73 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133649518 0.0 T G PASS 1/1 72 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133746439 0.0 A G PASS 1/1 67 None None None None None None None None None SLCO2A1|0.061541406|59.42%
View 552217_ngs_ex annotated mendelmd 3 . 133755484 0.0 G A sbF 0/1 29 None None None None None None None None None SLCO2A1|0.061541406|59.42%
View 552217_ngs_ex annotated mendelmd 3 . 148741608 0.0 C T PASS 1/1 74 None None None None None None None None None GYG1|0.272672609|29.66%
View 552217_ngs_ex annotated mendelmd 3 . 151745633 0.0 G T PASS 0/1 82 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 151827813 0.0 G A PASS 1/1 20 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 158644652 0.0 T C PASS 0/1 54 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 158649111 0.0 G A PASS 0/1 71 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 164996744 0.0 C T PASS 1/1 30 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 165055269 0.0 G A PASS 1/1 51 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 165065377 0.0 T C PASS 1/1 60 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 165068841 0.0 TA T PASS 1/1 21 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 167449398 0.0 T A PASS 0/1 46 None None None None None None None None None PDCD10|0.69791037|8.55%
View 552217_ngs_ex annotated mendelmd 3 . 167467090 0.0 T C sbF 0/1 39 None None None None None None None None None SERPINI1|0.254032243|31.2%
View 552217_ngs_ex annotated mendelmd 3 . 179242978 0.0 CT C sbF 0/1 54 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 179244703 0.0 G GA PASS 0/1 33 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 186720155 0.0 T C PASS 0/1 76 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 186722454 0.0 G A PASS 0/1 56 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 186725229 0.0 T C PASS 1/1 31 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 188609673 0.0 C T PASS 0/1 68 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 188872658 0.0 A G sbF 0/1 45 None None None None None None None None None TPRG1|0.293024931|28.16%
View 552217_ngs_ex annotated mendelmd 3 . 189973027 0.0 G GA PASS 0/1 13 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 189995416 0.0 T C PASS 1/1 41 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 195774278 0.0 C T PASS 1/1 94 None None None None None None None None None TFRC|0.701274957|8.47%
View 552217_ngs_ex annotated mendelmd 3 . 196052101 0.0 C T PASS 0/1 66 None None None None None None None None None TM4SF19|0.030418391|69.21%
View 552217_ngs_ex annotated mendelmd 3 . 196055305 0.0 C T PASS 0/1 38 None None None None None None None None None TM4SF19|0.030418391|69.21%
View 552217_ngs_ex annotated mendelmd 3 . 196055306 0.0 A G PASS 0/1 38 None None None None None None None None None TM4SF19|0.030418391|69.21%
View 552217_ngs_ex annotated mendelmd 3 . 196071387 0.0 T C PASS 1/1 31 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 196073940 0.0 C T sbF 0/1 57 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 196327568 0.0 T G PASS 1/1 100 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 196472333 0.0 G T PASS 0/1 71 None None None None None None None None None PAK2|0.474806194|16.98%
View 552217_ngs_ex annotated mendelmd 3 . 197015419 0.0 T C sbF 1/1 98 None None None None None None None None None DLG1|0.817144992|5.37%
View 552217_ngs_ex annotated mendelmd 3 . 10046582 0.0 G T sbF 0/1 36 None None None None None None None None None EMC3|0.367251837|22.95%
View 552217_ngs_ex annotated mendelmd 3 . 10046615 0.0 C T sbF 0/1 41 None None None None None None None None None EMC3|0.367251837|22.95%
View 552217_ngs_ex annotated mendelmd 3 . 10046624 0.0 T C PASS 0/1 44 None None None None None None None None None EMC3|0.367251837|22.95%
View 552217_ngs_ex annotated mendelmd 3 . 10046659 0.0 A G PASS 0/1 49 None None None None None None None None None EMC3|0.367251837|22.95%
View 552217_ngs_ex annotated mendelmd 3 . 10049400 0.0 T C sbF 0/1 72 None None None None None None None None None EMC3|0.367251837|22.95%
View 552217_ngs_ex annotated mendelmd 3 . 10338239 0.0 C T sbF 0/1 43 None None None None None None None None None SEC13|0.394056211|21.13%
View 552217_ngs_ex annotated mendelmd 3 . 10345375 0.0 C A sbF 0/1 42 None None None None None None None None None SEC13|0.394056211|21.13%
View 552217_ngs_ex annotated mendelmd 3 . 10378403 0.0 T C PASS 0/1 33 None None None None None None None None None ATP2B2|0.393540983|21.16%
View 552217_ngs_ex annotated mendelmd 3 . 33132664 0.0 T G PASS 1/1 44 None None None None None None None None None GLB1|0.136925779|44.88%,TMPPE|0.064511394|58.72%
View 552217_ngs_ex annotated mendelmd 3 . 33132676 0.0 G A PASS 1/1 45 None None None None None None None None None GLB1|0.136925779|44.88%,TMPPE|0.064511394|58.72%
View 552217_ngs_ex annotated mendelmd 3 . 46358307 0.0 T C PASS 0/1 81 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46408487 0.0 A C PASS 1/1 107 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46408579 0.0 T A PASS 1/1 78 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46439310 0.0 A G sbF 0/1 115 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46439467 0.0 C G PASS 0/1 129 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46443473 0.0 G A sbF 0/1 63 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46448875 0.0 G A sbF 0/1 86 None None None None None None None None None CCRL2|0.000417703|98.85%
View 552217_ngs_ex annotated mendelmd 3 . 46448983 0.0 G A sbF 0/1 142 None None None None None None None None None CCRL2|0.000417703|98.85%
View 552217_ngs_ex annotated mendelmd 3 . 46459723 0.0 T C PASS 0/1 59 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46459778 0.0 C T PASS 0/1 64 None None None None None None None None None None