+ Filter Options

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 4

Genes:
CHRD, FYCO1, LARS2, TRPC1,

+ Genes associated with diseases 2

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
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 . 142449489 0.0 C T PASS 0/1 67 None None None None None None None None None TRPC1|0.474830679|16.97%
View 552217_ngs_ex annotated mendelmd 3 . 47418189 0.0 C T sbF 1/1 82 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

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%
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 . 140562881 0.0 C T sbF 0/1 85 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 140564019 0.0 C T PASS 0/1 114 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 48580646 0.0 G T PASS 0/1 100 None None None None None None None None None PFKFB4|0.100125571|51.15%
View 552217_ngs_ex annotated mendelmd 3 . 47002048 0.0 C T PASS 1/1 130 None None None None None None None None None CCDC12|0.081899622|54.77%
View 552217_ngs_ex annotated mendelmd 3 . 47004356 0.0 C T PASS 0/1 25 None None None None None None None None None CCDC12|0.081899622|54.77%
View 552217_ngs_ex annotated mendelmd 3 . 124746755 0.0 TT... T PASS 0/1 34 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 45968585 0.0 C T PASS 1/1 132 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 3034717 0.0 C T PASS 0/1 120 None None None None None None None None None CNTN4|0.758140284|6.9%
View 552217_ngs_ex annotated mendelmd 3 . 142558733 0.0 A T sbF 0/1 55 None None None None None None None None None PCOLCE2|0.11919888|47.55%
View 552217_ngs_ex annotated mendelmd 3 . 3040066 0.0 A T sbF 1/1 42 None None None None None None None None None CNTN4|0.758140284|6.9%
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 . 129556363 0.0 C T PASS 0/1 82 None None None None None None None None None TMCC1|0.404814621|20.48%
View 552217_ngs_ex annotated mendelmd 3 . 45966331 0.0 G T sbF 0/1 17 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 146121108 0.0 C T sbF 1/1 24 None None None None None None None None None PLSCR2|0.00174996|91.67%
View 552217_ngs_ex annotated mendelmd 3 . 4467058 0.0 C T sbF 0/1 92 None None None None None None None None None SUMF1|0.2711895|29.81%
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 . 43080067 0.0 C T PASS 1/1 25 None None None None None None None None None FAM198A|0.022008467|73.15%
View 552217_ngs_ex annotated mendelmd 3 . 39265765 0.0 C T PASS 0/1 53 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 . 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 . 4800547 0.0 C T PASS 0/1 103 None None None None None None None None None ITPR1|0.673215803|9.28%
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 . 149163886 0.0 C T PASS 0/1 62 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 6861610 0.0 C T PASS 0/1 106 None None None None None None None None None GRM7|0.691014727|8.74%
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 . 7452730 0.0 A T PASS 1/1 90 None None None None None None None None None GRM7|0.691014727|8.74%
View 552217_ngs_ex annotated mendelmd 3 . 8733975 0.0 C T sbF 1/1 46 None None None None None None None None None SSUH2|0.023073982|72.66%
View 552217_ngs_ex annotated mendelmd 3 . 52222681 0.0 C T PASS 0/1 42 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 . 38756680 0.0 C T sbF 0/1 74 None None None None None None None None None SCN10A|0.216199938|34.89%
View 552217_ngs_ex annotated mendelmd 3 . 38560174 0.0 C T PASS 0/1 41 None None None None None None None None None EXOG|0.037321257|66.68%
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 . 38483251 0.0 C T sbF 0/1 52 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 124744810 0.0 C T PASS 0/1 102 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 38316326 0.0 C T sbF 0/1 90 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 14145330 0.0 A T PASS 0/1 52 None None None None None None None None None None
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 . 14145949 0.0 G T sbF 0/1 48 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 150927631 0.0 TAC T PASS 0/1 66 None None None None None None None None None MED12L|0.282976323|28.89%
View 552217_ngs_ex annotated mendelmd 3 . 14156487 0.0 A T PASS 1/1 93 None None None None None None None None None CHCHD4|0.084943426|54.21%
View 552217_ngs_ex annotated mendelmd 3 . 121632491 0.0 C T PASS 0/1 79 None None None None None None None None None SLC15A2|0.130031628|45.86%
View 552217_ngs_ex annotated mendelmd 3 . 16592157 0.0 C T PASS 0/1 44 None None None None None None None None None None
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 . 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 . 119383078 0.0 C T PASS 0/1 90 None None None None None None None None None POPDC2|0.041964042|65.12%,COX17|0.296566453|27.92%
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 . 171007166 0.0 C T sbF 0/1 40 None None None None None None None None None TNIK|0.717729556|8.03%
View 552217_ngs_ex annotated mendelmd 3 . 114171968 0.0 C T PASS 1/1 65 None None None None None None None None None ZBTB20|0.999874095|0.19%
View 552217_ngs_ex annotated mendelmd 3 . 172447937 0.0 C T PASS 0/1 45 None None None None None None None None None None
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 . 130269038 0.0 C T PASS 1/1 87 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 173048987 0.0 C T PASS 0/1 57 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 173117602 0.0 A T sbR 0/1 64 None None None None None None None None None NLGN1|0.983139098|1.37%
View 552217_ngs_ex annotated mendelmd 3 . 130269747 0.0 A T PASS 1/1 104 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 179239995 0.0 C T PASS 0/1 41 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 180616835 0.0 C T PASS 0/1 36 None None None None None None None None None FXR1|0.899887518|3.43%
View 552217_ngs_ex annotated mendelmd 3 . 124326102 0.0 C T PASS 1/1 100 None None None None None None None None None KALRN|0.624262379|10.99%
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 rs765987883
dbSNP Clinvar 		105704000 0.0 C T PASS 1/1 20 None None None None None None None None None None
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 . 133756878 0.0 C T PASS 0/1 113 None None None None None None None None None SLCO2A1|0.061541406|59.42%
View 552217_ngs_ex annotated mendelmd 3 . 105545332 0.0 G T PASS 0/1 28 None None None None None None None None None CBLB|0.559095691|13.39%
View 552217_ngs_ex annotated mendelmd 3 . 105541728 0.0 A T PASS 0/1 42 None None None None None None None None None CBLB|0.559095691|13.39%
View 552217_ngs_ex annotated mendelmd 3 . 133947365 0.0 C T PASS 0/1 106 None None None None None None None None None RYK|0.678647218|9.13%
View 552217_ngs_ex annotated mendelmd 3 . 101275653 0.0 C T PASS 0/1 58 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 134559428 0.0 C T sbR 0/1 14 None None None None None None None None None EPHB1|0.895849535|3.5%
View 552217_ngs_ex annotated mendelmd 3 . 129563137 0.0 C T PASS 1/1 78 None None None None None None None None None TMCC1|0.404814621|20.48%
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 . 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 . 100898836 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 . 186672838 0.0 C T PASS 0/1 59 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 136855679 0.0 C T sbR 0/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 186677783 0.0 A T PASS 0/1 97 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 98588786 0.0 C T PASS 0/1 89 None None None None None None None None None DCBLD2|0.153168212|42.49%
View 552217_ngs_ex annotated mendelmd 3 . 122337585 0.0 C T PASS 1/1 81 None None None None None None None None None PARP15|0.002154014|90.58%
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 . 78635874 0.0 C T sbF 0/1 95 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 138124634 0.0 G T PASS 0/1 53 None None None None None None None None None None
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 . 64157183 0.0 C T sbF 0/1 65 None None None None None None None None None PRICKLE2|0.417564665|19.72%
View 552217_ngs_ex annotated mendelmd 3 . 58430808 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 . 54896767 0.0 C T PASS 0/1 80 None None None None None None None None None CACNA2D3|0.956528589|2.05%
View 552217_ngs_ex annotated mendelmd 3 . 124747673 0.0 C T sbF 0/1 112 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 138714726 0.0 C T PASS 0/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 53865249 0.0 C T PASS 0/1 90 None None None None None None None None None CHDH|0.021054975|73.66%
View 552217_ngs_ex annotated mendelmd 3 . 53822626 0.0 C T PASS 0/1 105 None None None None None None None None None CACNA1D|0.678487804|9.14%
View 552217_ngs_ex annotated mendelmd 3 . 53735452 0.0 C T PASS 1/1 45 None None None None None None None None None CACNA1D|0.678487804|9.14%
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 . 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 . 49532767 0.0 C T sbF 0/1 172 None None None None None None None None None DAG1|0.703527545|8.39%
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 . 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 . 49417897 0.0 C T PASS 0/1 81 None None None None None None None None None RHOA|0.809851824|5.57%
View 552217_ngs_ex annotated mendelmd 3 . 50302191 0.0 C T sbF 0/1 14 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