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 GROUPS:

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OMIM:
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 CHR:

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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
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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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 31
Number of Genes: 0

Export to: CSV
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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 2388 17 . 81153380 6.0 C A DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] LOW None None None None None None None
View 2388 15 rs199524127
dbSNP Clinvar 		23263234 10.63 C T LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW 0.52716 0.52720 None None None None None None None
View 2388 14 . 81687741 3.53 G T DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] LOW None None None None None None None
View 2388 12 . 123848674 5.46 C A DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW None None None None None None SBNO1|0.395146117|21.06%
View 2388 12 rs7398691
dbSNP Clinvar 		53645885 46.82 T C PASS 0/1 14 MOTIF[MA0058.1:Max] MODIFIER 0.73083 0.73080 None None None None None None MFSD5|0.058416835|60.3%
View 2388 12 rs944321350
dbSNP Clinvar 		3069307 6.2 G A DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] MODIFIER None None None None None None TEAD4|0.177207563|39.4%
View 2388 11 rs769440
dbSNP Clinvar 		64889416 50.0 G C PASS 0/1 23 MOTIF[MA0058.1:Max] MODIFIER 0.44868 0.44870 None None None None None None FAU|0.593719693|11.99%,SYVN1|0.210771547|35.48%
View 2388 8 rs2618819
dbSNP Clinvar 		2130233 7.81 C G DRAGENSnpHardQUAL 1/1 1 MOTIF[MA0058.1:Max] MODIFIER 0.79693 0.79690 None None None None None None None
View 2388 7 . 157940617 6.21 C A DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW None None None None None None PTPRN2|0.133975302|45.29%
View 2388 7 rs369295487
dbSNP Clinvar 		1479130 10.58 G A PASS 1|1 1 MOTIF[MA0058.1:Max] LOW 0.13818 0.13820 None None None None None None MICALL2|0.002385779|89.92%
View 2388 7 rs140963409,rs397831615
dbSNP Clinvar 		1479126 10.78 T TCA PASS 1|1 1 MOTIF[MA0058.1:Max] LOW 0.96426 0.96430 None None None None None None MICALL2|0.002385779|89.92%
View 2388 6 rs3828916
dbSNP Clinvar 		31465915 134.27 G C PASS 1/1 29 MOTIF[MA0058.1:Max] LOW 0.85064 0.85060 None None None None None None MICB|0.000655639|97.5%
View 2388 3 rs6803052
dbSNP Clinvar 		19988475 49.83 C T PASS 0/1 13 MOTIF[MA0058.1:Max] MODIFIER 0.62460 0.62460 None None None None None None EFHB|0.023037599|72.7%
View 2388 1 rs2253831
dbSNP Clinvar 		237923053 50.0 C T PASS 0/1 13 MOTIF[MA0058.1:Max] LOW 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View 2388 19 . 15667125 3.53 G A DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] LOW None None None None None None None
View 2388 18 rs36034921
dbSNP Clinvar 		19803833 6.2 C T DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW 0.18510 0.18510 None None None None None None None
View 2388 16 rs72523665
dbSNP Clinvar 		69951847 10.4 C CCT PASS 0/1 2 MOTIF[MA0058.1:Max] LOW 0.72644 0.72640 None None None None None None WWP2|0.488930934|16.36%
View 2388 12 rs55828837
dbSNP Clinvar 		8388505 84.64 C T PASS 1/1 14 MOTIF[MA0058.1:Max] LOW 0.37740 0.37740 None None None None None None None
View 2388 9 rs1018330
dbSNP Clinvar 		139980385 49.51 C A PASS 0/1 18 MOTIF[MA0058.1:Max] LOW 0.50240 0.50240 None None None None None None None
View 2388 8 rs2250895
dbSNP Clinvar 		145692296 101.15 A C PASS 1/1 18 MOTIF[MA0058.1:Max] MODIFIER 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View 2388 7 rs62480219
dbSNP Clinvar 		157940346 3.55 T C DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] MODIFIER None None None None None None PTPRN2|0.133975302|45.29%
View 2388 5 . 169911306 6.21 G T DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW None None None None None None KCNIP1|0.505334604|15.55%
View 2388 2 . 131100265 3.54 G T DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] LOW None None None None None None IMP4|0.25522724|31.11%
View 2388 16 rs11646653
dbSNP Clinvar 		28922149 10.42 C T LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View 2388 16 rs75810024
dbSNP Clinvar 		11227305 9.52 G A DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW 0.07328 0.07328 None None None None None None CLEC16A|0.208493287|35.76%
View 2388 9 rs76921362
dbSNP Clinvar 		90721576 10.63 C T PASS 1/1 1 MOTIF[MA0058.1:Max] LOW 0.02496 0.02496 None None None None None None None
View 2388 8 . 98656365 4.11 C A DRAGENSnpHardQUAL 0/1 2 MOTIF[MA0058.1:Max] MODIFIER None None None None None None None
View 2388 7 rs113717500
dbSNP Clinvar 		157356315 9.52 G A DRAGENSnpHardQUAL;LowDepth 1/1 1 MOTIF[MA0058.1:Max] LOW 0.28894 0.28890 None None None None None None PTPRN2|0.133975302|45.29%
View 2388 6 rs1713862
dbSNP Clinvar 		74171467 46.31 C G PASS 0/1 15 MOTIF[MA0058.1:Max] LOW 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View 2388 6 rs3130456
dbSNP Clinvar 		31126252 134.28 C A PASS 1/1 29 MOTIF[MA0058.1:Max] LOW 0.61601 0.61600 None None None None None None None
View 2388 4 rs62286243
dbSNP Clinvar 		1626991 11.13 A G PASS 1/1 2 MOTIF[MA0058.1:Max] MODIFIER 0.16414 0.16410 None None None None None None FAM53A|0.004394146|86.49%
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