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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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+ Genes 5

Genes:
CCDC40, DNAH9, DNAI2, LRRC48, WDR16,

+ Genes associated with diseases 3

Genes at Omim

CCDC40, DNAH9, DNAI2,
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)

Genes at Clinical Genomics Database

CCDC40, DNAI2,
CCDC40 Ciliary dyskinesia, primary, 15
DNAI2 Ciliary dyskinesia, primary, 9

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

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 20167-01-01_s21-kopie 17 rs7207166
dbSNP Clinvar 		78064064 5896.79 G A PASS 1/1 292 None None None 0.75599 0.75600 0.06 0.98 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs2289527
dbSNP Clinvar 		78013724 7521.54 G C PASS 1/1 285 SYNONYMOUS_CODING LOW SILENT 0.95727 0.95730 0.00622 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs35578653
dbSNP Clinvar 		78055758 8739.87 T G PASS 1/1 335 SYNONYMOUS_CODING LOW SILENT 0.46426 0.46430 0.47895 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 . 78063947 10268.91 AG... A PASS 0/1 416 None None None None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs2304854
dbSNP Clinvar 		78073562 3635.22 A G PASS 0/1 358 SYNONYMOUS_CODING LOW SILENT 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs12952612
dbSNP Clinvar 		78071052 3887.6 T C PASS 1/1 139 SYNONYMOUS_CODING LOW SILENT 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs7210679
dbSNP Clinvar 		78063996 3638.3 A G PASS 0/1 405 None None None 0.19109 0.19110 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs4889953
dbSNP Clinvar 		78064015 8445.92 G C PASS 1/1 375 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs10693712
dbSNP Clinvar 		78064145 15772.76 A ACAC PASS 1/1 251 None None None 0.65475 0.65480 None None None None None None CCDC40|0.000987297|95.52%

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 20167-01-01_s21-kopie 17 rs17612861
dbSNP Clinvar 		11835331 1965.32 G A PASS 0/1 189 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.21006 0.21010 0.24958 0.07 0.25 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs8070256
dbSNP Clinvar 		11786951 1387.46 T C PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.38598 0.38600 0.40604 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs144408069
dbSNP Clinvar 		11786941 736.25 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00146 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs2286303
dbSNP Clinvar 		11833287 2418.95 A G PASS 0/1 232 SYNONYMOUS_CODING LOW SILENT 0.22244 0.22240 0.25750 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs3744578
dbSNP Clinvar 		11648332 2961.69 C T PASS 0/1 265 SYNONYMOUS_CODING LOW SILENT 0.77017 0.77020 0.26411 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs8071438
dbSNP Clinvar 		11583089 3188.79 T C PASS 1/1 119 SYNONYMOUS_CODING LOW SILENT 0.94788 0.94790 0.03168 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs1859887
dbSNP Clinvar 		11833365 2168.18 G A PASS 0/1 212 SYNONYMOUS_CODING LOW SILENT 0.22145 0.22140 0.25727 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs9895535
dbSNP Clinvar 		11532835 1835.89 A G PASS 0/1 181 SYNONYMOUS_CODING LOW SILENT 0.39277 0.39280 0.44149 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs9892256
dbSNP Clinvar 		11523082 3371.93 A G PASS 1/1 125 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%
View 20167-01-01_s21-kopie 17 rs11078022
dbSNP Clinvar 		11511457 803.58 C T PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT 0.44329 0.44330 0.34599 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 20167-01-01_s21-kopie 17 rs1979370
dbSNP Clinvar 		72308319 6748.92 G A PASS 1/1 262 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%
View 20167-01-01_s21-kopie 17 rs8073660
dbSNP Clinvar 		72301432 2690.76 A G PASS 0/1 201 SYNONYMOUS_CODING LOW SILENT 0.39876 0.39880 0.46548 None None None None None None DNAI2|0.045144108|64.18%

LRRC48
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 20167-01-01_s21-kopie 17 rs11656629
dbSNP Clinvar 		17907768 4123.77 C T PASS 0/1 382 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01697 0.01697 0.02684 0.52 0.00 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs4584886
dbSNP Clinvar 		17896205 377.33 C T PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58207 0.58210 0.35099 0.00 0.96 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs4368210
dbSNP Clinvar 		17896090 1080.32 C T PASS 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.58187 0.58190 0.35384 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

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 20167-01-01_s21-kopie 17 rs143579503
dbSNP Clinvar 		9489232 2235.79 C T PASS 0/1 212 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.00277 None None None None None None CFAP52|0.105372981|50.17%
View 20167-01-01_s21-kopie 17 rs6503235
dbSNP Clinvar 		9515777 3680.29 G A PASS 1/1 134 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%
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 20167-01-01_s21-kopie 17 rs8076516
dbSNP Clinvar 		78040163 8434.46 T C PASS 1/1 314 None None None 0.18151 0.18150 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs8082554
dbSNP Clinvar 		78039867 5397.05 C T PASS 1/1 193 None None None 0.18091 0.18090 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs3752041
dbSNP Clinvar 		78010548 3472.84 C A PASS 0/1 316 None None None 0.20986 0.20990 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs2290955
dbSNP Clinvar 		72305534 4462.99 C T PASS 1/1 163 None None None 0.35543 0.35540 0.49316 None None None None None None DNAI2|0.045144108|64.18%
View 20167-01-01_s21-kopie 17 rs3760435
dbSNP Clinvar 		11786291 2594.58 A G PASS 1/1 102 None None None 0.65475 0.65480 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs8076337
dbSNP Clinvar 		72297180 800.05 A G PASS 0/1 75 None None None 0.26118 0.26120 0.34530 None None None None None None DNAI2|0.045144108|64.18%
View 20167-01-01_s21-kopie 17 rs1877687
dbSNP Clinvar 		72270442 1060.0 A G PASS 0/1 157 None None None 0.63179 0.63180 None None None None None None DNAI2|0.045144108|64.18%
View 20167-01-01_s21-kopie 17 rs5822035
dbSNP Clinvar 		72270423 6022.84 GA... G PASS 0/1 166 None None None 0.38299 0.38300 None None None None None None DNAI2|0.045144108|64.18%
View 20167-01-01_s21-kopie 17 rs12952915
dbSNP Clinvar 		40118552 5125.08 G A PASS 1/1 175 None None None 0.17412 0.17410 None None None None None None None
View 20167-01-01_s21-kopie 17 rs3809878
dbSNP Clinvar 		40094835 5647.28 C T PASS 1/1 200 None None None 0.17472 0.17470 0.17784 None None None None None None None
View 20167-01-01_s21-kopie 17 rs201098161,rs559006620
dbSNP Clinvar 		17920187 1991.97 TAA T R8 0/1 175 None None None 0.62780 0.62780 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs12150369
dbSNP Clinvar 		17911014 3627.17 G A PASS 0/1 336 None None None 0.63079 0.63080 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs4924832
dbSNP Clinvar 		17897739 2246.19 T C PASS 0/1 207 None None None 0.63259 0.63260 0.36063 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs7219320
dbSNP Clinvar 		17880877 1853.55 A G PASS 0/1 165 None None None 0.66554 0.66550 0.42350 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%
View 20167-01-01_s21-kopie 17 rs11078409
dbSNP Clinvar 		17876296 3058.16 C G PASS 0/1 272 None None None 0.58566 0.58570 None None None None None None LRRC48|0.058782797|60.21%
View 20167-01-01_s21-kopie 17 rs917507
dbSNP Clinvar 		11501730 6089.64 C A PASS 1/1 259 None None None 0.99681 0.99680 None None None None None None None
View 20167-01-01_s21-kopie 17 rs73975043
dbSNP Clinvar 		11572669 932.24 G A PASS 0/1 81 None None None 0.11462 0.11460 0.19453 None None None None None None DNAH9|0.176098085|39.51%
View 20167-01-01_s21-kopie 17 rs9905685
dbSNP Clinvar 		78064403 11247.67 G C PASS 1/1 375 None None None 0.65036 0.65040 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs753396712
dbSNP Clinvar 		78064216 16808.33 CA... C,... PASS 1/2 355 MOTIF[MA0058.1:Max] LOW None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs2304852
dbSNP Clinvar 		78073723 4297.69 T C PASS 0/1 373 None None None 0.49301 0.49300 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 rs2304851
dbSNP Clinvar 		78073760 4490.06 A C PASS 0/1 348 None None None 0.36142 0.36140 None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 . 78040534 94.4 A G LowVariantFreq 0/1 118 None None None None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 17 . 78040370 24.79 G C LowVariantFreq;SB 0/1 134 None None None None None None None None None CCDC40|0.000987297|95.52%
  • Page 1 of 1