+ 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 31

+ Genes associated with diseases 10

Genes at Omim

CCDC40, DNAAF3, DNAH11, DNAH5, DNAH9, DNAI2, DRC1, HYDIN, LRRC6, NME8,
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)

Genes at Clinical Genomics Database

CCDC40, DNAAF2, DNAH11, DNAH5, DNAI2, DYX1C1, LRRC6, NME8,
CCDC40 Ciliary dyskinesia, primary, 15
DNAAF2 Ciliary dyskinesia, primary, 10
DNAH11 Ciliary dyskinesia, primary, 7
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9
DYX1C1 Ciliary dyskinesia, primary 25
LRRC6 Ciliary dyskinesia, primary 19
NME8 Ciliary dyskinesia, primary, 6

Genes at HGMD

Summary

Number of Variants: 115
Number of Genes: 31

Export to: CSV

C10orf107
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 20166-01-01_s20-kopie 10 rs1992625
dbSNP Clinvar 		63520698 18078.78 T C PASS 1/1 690 SYNONYMOUS_CODING LOW SILENT 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

C7orf63
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 20166-01-01_s20-kopie 7 rs7803620
dbSNP Clinvar 		89938588 4213.46 C G PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92213 0.92210 0.14475 1.00 0.00 None None None None None None CFAP69|0.131174602|45.73%

CCDC40
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 20166-01-01_s20-kopie 17 rs7207166
dbSNP Clinvar 		78064064 13070.8 G A PASS 1/1 727 None None None 0.75599 0.75600 0.06 0.98 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 17 rs4889953
dbSNP Clinvar 		78064015 17229.1 G C PASS 1/1 814 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 17 rs10693712
dbSNP Clinvar 		78064145 35743.42 A ACAC PASS 1/1 579 None None None 0.65475 0.65480 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 17 rs35578653
dbSNP Clinvar 		78055758 27805.12 T G PASS 1/1 1058 SYNONYMOUS_CODING LOW SILENT 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 17 rs12952612
dbSNP Clinvar 		78071052 10185.67 T C PASS 1/1 336 SYNONYMOUS_CODING LOW SILENT 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 17 rs2289527
dbSNP Clinvar 		78013724 22301.26 G C PASS 1/1 760 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%

CHDC2
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 20166-01-01_s20-kopie X rs6632464
dbSNP Clinvar 		36057261 3479.86 A G PASS 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.26782 0.26780 None None None None None None None
View 20166-01-01_s20-kopie X rs752519501,rs112700338
dbSNP Clinvar 		36162684 23907.06 C CTG PASS 1/1 472 FRAME_SHIFT+STOP_GAINED HIGH 0.39417 0.39420 0.30015 None None None None None None None

CXorf22
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 20166-01-01_s20-kopie X rs2336029
dbSNP Clinvar 		35969297 17693.23 G A PASS 1/1 644 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18782 0.18780 0.10065 0.00 0.99 None None None None None None CFAP47|0.008493492|82.15%
View 20166-01-01_s20-kopie X rs6632450
dbSNP Clinvar 		35993454 4649.18 C T PASS 1/1 159 SYNONYMOUS_CODING LOW SILENT 0.24768 0.24770 0.13025 None None None None None None CFAP47|0.008493492|82.15%
View 20166-01-01_s20-kopie X rs6632446
dbSNP Clinvar 		35988996 9191.02 T C PASS 1/1 332 SYNONYMOUS_CODING LOW SILENT 0.20106 0.20110 0.08170 None None None None None None CFAP47|0.008493492|82.15%

CXorf30
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 20166-01-01_s20-kopie X rs6632593
dbSNP Clinvar 		36385156 15699.68 A G PASS 1/1 576 SYNONYMOUS_CODING LOW SILENT 0.16397 0.16400 0.08032 None None None None None None None
View 20166-01-01_s20-kopie X rs6527569
dbSNP Clinvar 		36403036 18573.85 A G PASS 1/1 679 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39152 0.39150 0.33056 1.00 0.00 None None None None None None None
View 20166-01-01_s20-kopie X rs41309695
dbSNP Clinvar 		36371719 14651.63 T A PASS 1/1 528 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17907 0.17910 0.07889 0.75 0.00 None None None None None None None

DNAAF2
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 20166-01-01_s20-kopie 14 rs2985687
dbSNP Clinvar 		50100386 26332.22 T C PASS 1/1 982 SYNONYMOUS_CODING LOW SILENT 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View 20166-01-01_s20-kopie 14 rs2985684
dbSNP Clinvar 		50101682 19019.96 C G PASS 1/1 712 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49321 0.49320 0.28662 0.07 0.57 None None None None None None DNAAF2|0.034155944|67.73%
View 20166-01-01_s20-kopie 14 rs2985685
dbSNP Clinvar 		50101370 20338.87 G A PASS 1/1 812 SYNONYMOUS_CODING LOW SILENT 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%
View 20166-01-01_s20-kopie 14 rs2985686
dbSNP Clinvar 		50100683 3572.02 C G PASS 1/1 154 SYNONYMOUS_CODING LOW SILENT 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%

DNAAF3
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 20166-01-01_s20-kopie 19 rs890872
dbSNP Clinvar 		55671337 21709.75 C T PASS 1/1 853 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.69 0.00 None None None None None None DNAAF3|0.005278927|85.46%

DNAH11
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 20166-01-01_s20-kopie 7 rs3827657
dbSNP Clinvar 		21641218 15971.33 G A PASS 1/1 600 SYNONYMOUS_CODING LOW SILENT 0.75379 0.75380 0.19933 None None None None None None DNAH11|0.38215847|21.9%
View 20166-01-01_s20-kopie 7 rs1109806
dbSNP Clinvar 		21778449 7262.36 C T PASS 1/1 266 SYNONYMOUS_CODING LOW SILENT 0.53954 0.53950 0.33524 None None None None None None DNAH11|0.38215847|21.9%
View 20166-01-01_s20-kopie 7 rs10269582
dbSNP Clinvar 		21640361 17311.88 T C PASS 1/1 629 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22045 0.22040 0.35193 0.86 0.22 None None None None None None DNAH11|0.38215847|21.9%
View 20166-01-01_s20-kopie 7 rs6963535
dbSNP Clinvar 		21628237 4779.73 C T PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.99062 0.99060 0.00987 None None None None None None DNAH11|0.38215847|21.9%
View 20166-01-01_s20-kopie 7 rs10224537
dbSNP Clinvar 		21640405 19529.16 A G PASS 1/1 683 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76777 0.76780 0.18471 0.55 0.00 None None None None None None DNAH11|0.38215847|21.9%

DNAH5
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 20166-01-01_s20-kopie 5 rs10513155
dbSNP Clinvar 		13788886 12969.14 C A PASS 1/1 494 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20867 0.20870 0.24612 0.51 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20166-01-01_s20-kopie 5 rs339445
dbSNP Clinvar 		13944512 12875.5 A C PASS 1/1 479 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91294 0.91290 0.07443 1.00 0.00 None None None None None None DNAH5|0.235040337|32.91%
View 20166-01-01_s20-kopie 5 rs2401809
dbSNP Clinvar 		13754394 22751.29 C T PASS 1/1 835 SYNONYMOUS_CODING LOW SILENT 0.32828 0.32830 0.35530 None None None None None None DNAH5|0.235040337|32.91%

DNAH9
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 20166-01-01_s20-kopie 17 rs8071438
dbSNP Clinvar 		11583089 20587.74 T C PASS 1/1 730 SYNONYMOUS_CODING LOW SILENT 0.94788 0.94790 0.03168 None None None None None None DNAH9|0.176098085|39.51%
View 20166-01-01_s20-kopie 17 rs9892256
dbSNP Clinvar 		11523082 17064.25 A G PASS 1/1 632 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99022 0.99020 0.00823 1.00 0.00 None None None None None None DNAH9|0.176098085|39.51%

DNAI2
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 20166-01-01_s20-kopie 17 rs1979370
dbSNP Clinvar 		72308319 25116.08 G A PASS 1/1 927 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74082 0.74080 0.22974 0.29 0.00 None None None None None None DNAI2|0.045144108|64.18%

DRC1
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 20166-01-01_s20-kopie 2 rs939820
dbSNP Clinvar 		26667615 21216.23 T C PASS 1/1 808 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00200 1.00 0.00 None None None None None None DRC1|0.021378182|73.5%
View 20166-01-01_s20-kopie 2 rs7423300
dbSNP Clinvar 		26647277 13879.72 T G PASS 1/1 488 SYNONYMOUS_CODING LOW SILENT 0.62340 0.62340 0.21429 None None None None None None DRC1|0.021378182|73.5%
View 20166-01-01_s20-kopie 2 rs1402962
dbSNP Clinvar 		26676322 20731.45 A G PASS 1/1 720 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00469 None None None None None None DRC1|0.021378182|73.5%

DYX1C1
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 20166-01-01_s20-kopie 15 . 55727161 7263.37 C G PASS 1/1 267 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None DYX1C1|0.073770721|56.56%

FBXL13
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 20166-01-01_s20-kopie 7 rs7805950
dbSNP Clinvar 		102668001 8263.48 A C PASS 1/1 284 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96625 0.96630 0.02968 0.27 0.00 None None None None None None FBXL13|0.013552601|78.17%
View 20166-01-01_s20-kopie 7 rs10279449
dbSNP Clinvar 		102462636 5939.26 T C PASS 1/1 208 SYNONYMOUS_CODING LOW SILENT 0.52336 0.52340 0.46617 None None None None None None FBXL13|0.013552601|78.17%

HYDIN
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 20166-01-01_s20-kopie 16 rs1798531
dbSNP Clinvar 		70954915 30645.54 G T PASS 1/1 1101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00627 1.00 0.00 None None None None None None HYDIN|0.080749251|55.02%

IQGAP3
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 20166-01-01_s20-kopie 1 rs744224
dbSNP Clinvar 		156518379 18903.49 G A PASS 1/1 668 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40715 0.40710 0.28341 0.13 0.00 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs1171566
dbSNP Clinvar 		156499969 28303.76 T C PASS 1/1 1079 SYNONYMOUS_CODING LOW SILENT 0.60563 0.60560 0.46294 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs2488269
dbSNP Clinvar 		156526444 22724.49 T C PASS 1/1 853 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96006 0.96010 0.04244 1.00 0.00 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs1171547
dbSNP Clinvar 		156532977 22048.32 T C PASS 1/1 855 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs2066377
dbSNP Clinvar 		156536221 13560.99 G C PASS 1/1 502 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs947662
dbSNP Clinvar 		156536251 17415.82 T C PASS 1/1 669 SYNONYMOUS_CODING LOW SILENT 0.95986 0.95990 0.04252 None None None None None None IQGAP3|0.099380714|51.29%

LRGUK
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 20166-01-01_s20-kopie 7 rs1222419
dbSNP Clinvar 		133868507 13120.86 C T PASS 1/1 478 SYNONYMOUS_CODING LOW SILENT 0.99321 0.99320 0.00815 None None None None None None LRGUK|0.024956796|71.82%

LRRC31
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 20166-01-01_s20-kopie 3 rs3732451
dbSNP Clinvar 		169558025 21720.18 C T PASS 1/1 791 SYNONYMOUS_CODING LOW SILENT 0.55891 0.55890 0.41001 None None None None None None LRRC31|0.008370816|82.26%

LRRC6
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 20166-01-01_s20-kopie 8 rs2293979
dbSNP Clinvar 		133637659 13143.88 G A PASS 1/1 463 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48622 0.48620 0.44180 0.21 0.00 None None None None None None LRRC6|0.037895735|66.48%

MNS1
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 20166-01-01_s20-kopie 15 rs1715919
dbSNP Clinvar 		56756285 6871.88 T G PASS 1/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05351 0.05351 0.08115 0.00 0.03 None None None None None None MNS1|0.063037216|59.09%

NME8
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 20166-01-01_s20-kopie 7 rs10250905
dbSNP Clinvar 		37907304 9127.48 T C PASS 1/1 300 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.74341 0.74340 0.21290 0.00 0.00 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%

PCDP1
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 20166-01-01_s20-kopie 2 rs2272058
dbSNP Clinvar 		120388412 17883.66 G A PASS 1/1 674 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02276 0.64 0.00 None None None None None None None
View 20166-01-01_s20-kopie 2 rs10864986
dbSNP Clinvar 		120369300 8203.59 T C PASS 1/1 300 SYNONYMOUS_CODING LOW SILENT 0.98383 0.98380 0.01392 None None None None None None None

PIH1D1
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 20166-01-01_s20-kopie 19 rs2293013
dbSNP Clinvar 		49954803 28567.95 C T PASS 1/1 1048 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60883 0.60880 0.28448 1.00 0.00 None None None None None None PIH1D1|0.036643548|66.93%
View 20166-01-01_s20-kopie 19 rs13394
dbSNP Clinvar 		49950298 10140.27 C T PASS 1/1 383 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68890 0.68890 0.19022 1.00 0.00 None None None None None None PIH1D1|0.036643548|66.93%
View 20166-01-01_s20-kopie 19 rs2293012
dbSNP Clinvar 		49954807 28499.22 T G PASS 1/1 1036 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60883 0.60880 0.28448 0.15 0.00 None None None None None None PIH1D1|0.036643548|66.93%
View 20166-01-01_s20-kopie 19 rs12443
dbSNP Clinvar 		49950356 9857.28 C G PASS 1/1 375 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.67792 0.67790 0.20098 None None None None None None PIH1D1|0.036643548|66.93%

PIH1D2
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 20166-01-01_s20-kopie 11 rs1425917
dbSNP Clinvar 		111941959 10706.29 G A PASS 1/1 383 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03235 0.03235 0.07549 0.16 0.02 None None None None None None PIH1D2|0.078092823|55.65%

RP11-156E8.1
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 20166-01-01_s20-kopie 1 rs7542813
dbSNP Clinvar 		245133539 6669.21 A G PASS 1/1 253 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None EFCAB2|0.09874582|51.4%

SPEF2
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 20166-01-01_s20-kopie 5 rs13170390
dbSNP Clinvar 		35709184 9441.0 G C PASS 1/1 335 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24391 0.32 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 20166-01-01_s20-kopie 5 rs13170082
dbSNP Clinvar 		35709095 9362.17 C T PASS 1/1 341 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24344 0.56 0.00 None None None None None None SPEF2|0.057634008|60.51%

TCTE1
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 20166-01-01_s20-kopie 6 rs324143
dbSNP Clinvar 		44253749 26085.5 A G PASS 1/1 978 SYNONYMOUS_CODING LOW SILENT 0.87979 0.87980 0.12048 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%
View 20166-01-01_s20-kopie 6 rs484757
dbSNP Clinvar 		44247951 17322.75 T G PASS 1/1 624 SYNONYMOUS_CODING LOW SILENT 0.88359 0.88360 0.11987 None None None None None None TMEM151B|0.178433912|39.22%,TCTE1|0.063877506|58.93%

TTC40
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 20166-01-01_s20-kopie 10 rs4880467
dbSNP Clinvar 		134726621 28512.82 G C PASS 1/1 1011 SYNONYMOUS_CODING LOW SILENT 0.28654 0.28650 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs4075501
dbSNP Clinvar 		134738232 30086.9 A G PASS 1/1 1113 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs4880288
dbSNP Clinvar 		134736076 25529.73 T G PASS 1/1 939 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56350 0.56350 1.00 0.00 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs7915371
dbSNP Clinvar 		134735672 24055.67 A G PASS 1/1 863 SYNONYMOUS_CODING LOW SILENT 0.53474 0.53470 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs7075277
dbSNP Clinvar 		134722022 16568.77 A G PASS 1/1 628 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs7908950
dbSNP Clinvar 		134682855 23949.44 C T PASS 1/1 891 SYNONYMOUS_CODING LOW SILENT 0.31310 0.31310 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs4880433
dbSNP Clinvar 		134646988 14599.64 C T PASS 1/1 554 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31989 0.31990 0.32539 0.03 0.11 None None None None None None CFAP46|0.002457988|89.78%

WDR16
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 20166-01-01_s20-kopie 17 rs6503235
dbSNP Clinvar 		9515777 15483.11 G A PASS 1/1 564 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59964 0.59960 0.36199 0.44 0.00 None None None None None None CFAP52|0.105372981|50.17%

ZBBX
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 20166-01-01_s20-kopie 3 rs4257551
dbSNP Clinvar 		167077691 8806.51 T A PASS 1/1 303 SYNONYMOUS_CODING LOW SILENT 0.99940 0.99940 0.00398 None None None None None None ZBBX|0.013746887|78.06%
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 20166-01-01_s20-kopie 3 rs9290375
dbSNP Clinvar 		169566090 9058.13 A G PASS 1/1 311 None None None 0.55891 0.55890 0.41237 None None None None None None LRRC31|0.008370816|82.26%
View 20166-01-01_s20-kopie 1 rs4658695
dbSNP Clinvar 		245251140 5877.54 T G PASS 1/1 222 None None None 0.94129 0.94130 None None None None None None EFCAB2|0.09874582|51.4%
View 20166-01-01_s20-kopie 5 rs1047426
dbSNP Clinvar 		10442068 11606.41 C T PASS 1/1 445 START_GAINED LOW 0.92911 0.92910 None None None None None None ROPN1L|0.010563678|80.47%
View 20166-01-01_s20-kopie 1 rs6427319
dbSNP Clinvar 		156539154 17707.64 T C PASS 1/1 699 None None None 0.99082 0.99080 0.01084 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 1 rs947663
dbSNP Clinvar 		156536353 12693.8 A G PASS 1/1 449 None None None 0.95986 0.95990 0.04244 None None None None None None IQGAP3|0.099380714|51.29%
View 20166-01-01_s20-kopie 5 rs12655133
dbSNP Clinvar 		13769257 12997.04 T A PASS 1/1 456 None None None 0.32468 0.32470 0.36114 None None None None None None DNAH5|0.235040337|32.91%
View 20166-01-01_s20-kopie 5 rs10073537
dbSNP Clinvar 		35713007 8523.31 T G PASS 1/1 293 None None None 0.72544 0.72540 0.24320 None None None None None None SPEF2|0.057634008|60.51%
View 20166-01-01_s20-kopie 5 rs11957963
dbSNP Clinvar 		35753715 11759.27 T C PASS 1/1 415 None None None 0.50359 0.50360 0.45799 None None None None None None SPEF2|0.057634008|60.51%
View 20166-01-01_s20-kopie 5 rs37535
dbSNP Clinvar 		57617403 8331.08 G C PASS 1/1 313 None None None 0.57189 0.57190 None None None None None None None
View 20166-01-01_s20-kopie 21 rs2839531
dbSNP Clinvar 		43892641 12260.56 T C PASS 1/1 435 None None None 0.85683 0.85680 None None None None None None RSPH1|0.007033291|83.46%
View 20166-01-01_s20-kopie 20 rs6512586
dbSNP Clinvar 		48301146 8733.26 G A PASS 1/1 341 None None None 0.46805 0.46810 0.49983 None None None None None None B4GALT5|0.192081933|37.58%
View 20166-01-01_s20-kopie 20 rs6074704
dbSNP Clinvar 		14167283 3666.89 A G PASS 1/1 137 None None None 0.47923 0.47920 None None None None None None MACROD2|0.978751843|1.49%
View 20166-01-01_s20-kopie 7 rs4720262
dbSNP Clinvar 		37888627 17848.47 C T PASS 1/1 699 None None None 0.16014 0.16010 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%
View 20166-01-01_s20-kopie 19 rs2293011
dbSNP Clinvar 		49955016 24315.14 G T PASS 1/1 873 None None None 0.60903 0.60900 None None None None None None PIH1D1|0.036643548|66.93%
View 20166-01-01_s20-kopie 7 rs2722330
dbSNP Clinvar 		37939984 3568.45 G A PASS 1/1 114 None None None 0.98502 0.98500 None None None None None None EPDR1|0.032281464|68.48%,NME8|0.008591478|82.05%
View 20166-01-01_s20-kopie 7 rs72580510,rs10694618
dbSNP Clinvar 		102518909 22790.49 A AGT PASS 1/1 452 None None None 0.34984 0.34980 0.24045 None None None None None None FBXL13|0.013552601|78.17%
View 20166-01-01_s20-kopie 8 rs10090819
dbSNP Clinvar 		49628125 27735.78 T C PASS 1/1 1020 None None None 0.73762 0.73760 None None None None None None EFCAB1|0.138695847|44.58%
View 20166-01-01_s20-kopie 8 rs1393978
dbSNP Clinvar 		107236280 4251.52 G T PASS 1/1 163 None None None 0.60963 0.60960 None None None None None None None
View 20166-01-01_s20-kopie 19 rs1043263
dbSNP Clinvar 		49949589 13976.35 A T PASS 1/1 531 None None None 0.28714 0.28710 0.31024 None None None None None None PIH1D1|0.036643548|66.93%
View 20166-01-01_s20-kopie 19 rs34094
dbSNP Clinvar 		11541712 9548.17 T C PASS 1/1 307 None None None 0.91234 0.91230 0.06345 None None None None None None CCDC151|0.006639685|83.91%
View 20166-01-01_s20-kopie 19 rs34081
dbSNP Clinvar 		11531272 10975.29 T G PASS 1/1 394 SPLICE_SITE_REGION LOW 0.95687 0.95690 None None None None None None CCDC151|0.006639685|83.91%
View 20166-01-01_s20-kopie 18 rs920791
dbSNP Clinvar 		47777358 3570.7 T A PASS 1/1 106 None None None 0.29653 0.29650 0.32024 None None None None None None CFAP53|0.02234551|72.99%
View 20166-01-01_s20-kopie 10 rs151189963
dbSNP Clinvar 		63422754 42719.29 G GG... PASS 1/1 271 None None None 0.98982 0.98980 None None None None None None C10orf107|0.277213376|29.34%
View 20166-01-01_s20-kopie 17 rs9905685
dbSNP Clinvar 		78064403 26595.64 G C PASS 1/1 889 None None None 0.65036 0.65040 None None None None None None CCDC40|0.000987297|95.52%
View 20166-01-01_s20-kopie 10 rs12254100
dbSNP Clinvar 		134726335 16582.12 T C PASS 1/1 579 None None None 0.38459 0.38460 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 10 rs7898115
dbSNP Clinvar 		134756013 6871.29 T C PASS 1/1 304 None None None 0.49701 0.49700 0.41032 None None None None None None CFAP46|0.002457988|89.78%
View 20166-01-01_s20-kopie 11 rs12804542
dbSNP Clinvar 		101918327 11344.99 A G PASS 1/1 446 None None None 0.96725 0.96730 None None None None None None C11orf70|0.1597499|41.59%
View 20166-01-01_s20-kopie 14 rs12160
dbSNP Clinvar 		50091932 780.5 T A PASS 1/1 30 None None None 0.54153 0.54150 None None None None None None DNAAF2|0.034155944|67.73%
View 20166-01-01_s20-kopie 17 rs8076516
dbSNP Clinvar 		78040163 21690.76 T C PASS 1/1 795 None None None 0.18151 0.18150 None None None None None None CCDC40|0.000987297|95.52%