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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CASP12, COQ2, DNAH11, FUT2, HLA-DQB1, HLA-DRB1, IGSF3, KMT2C, MS4A2, NDUFB9, PRODH,
CASP12 {Sepsis, susceptibility to} (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
MS4A2 {Atopy, susceptibility to}, 147050 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
PRODH {Schizophrenia, susceptibility to, 4}, 600850 (3)
Hyperprolinemia, type I, 239500 (3)

Genes at Clinical Genomics Database

COQ2, DNAH11, DYX1C1, IGSF3, PRODH,
COQ2 Coenzyme Q10 deficiency 1
DNAH11 Ciliary dyskinesia, primary, 7
DYX1C1 Ciliary dyskinesia, primary 25
IGSF3 Lacrimal duct defect
PRODH Hyperprolinemia, type I

Genes at HGMD

Summary

Number of Variants: 98
Number of Genes: 92

Export to: CSV
  • Page 1 of 1

ANAPC1

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 sample14_s2_s2_001_filtered_dp10_splitted 2 rs72936240
dbSNP Clinvar
112614429 58.77 G A . 0/1 146 STOP_GAINED HIGH None None None None None None None ANAPC1|0.14646446|43.53%

ANKDD1B

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 sample14_s2_s2_001_filtered_dp10_splitted 5 rs34358
dbSNP Clinvar
74965122 2511.77 G A . 0/1 224 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ANKRD30A

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 sample14_s2_s2_001_filtered_dp10_splitted 10 rs116939015
dbSNP Clinvar
37419292 1362.77 G T . 0/1 103 STOP_GAINED HIGH None 0.00599 0.00599 0.01366 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD36C

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 sample14_s2_s2_001_filtered_dp10_splitted 2 rs74941794
dbSNP Clinvar
96525771 401.77 A C . 0/1 167 STOP_GAINED HIGH None None None None None None None ANKRD36C|0.001406745|93.3%

ARHGEF5

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs202036368
dbSNP Clinvar
144062632 288.77 C G . 0/1 50 STOP_GAINED HIGH None None None None None None None ARHGEF5|0.018074391|75.24%

C19orf10

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 sample14_s2_s2_001_filtered_dp10_splitted 19 rs72620522
dbSNP Clinvar
4659924 868.77 C T . 0/1 70 STOP_GAINED HIGH None 0.08127 0.08127 0.08704 None None None None None None MYDGF|0.015950442|76.5%

C5orf20

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 sample14_s2_s2_001_filtered_dp10_splitted 5 rs12520799
dbSNP Clinvar
134782450 3103.77 T A . 0/1 234 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C5orf38

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 sample14_s2_s2_001_filtered_dp10_splitted 5 rs62333235
dbSNP Clinvar
2755485 880.77 C T . 0/1 152 STOP_GAINED HIGH None 0.29673 0.29670 None None None None None None C5orf38|0.009040618|81.62%

CASP12

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs497116
dbSNP Clinvar
104763117 4541.77 G A . 1/1 139 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CCDC144NL

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs79930314
dbSNP Clinvar
20769899 84.77 G T . 0/1 82 STOP_GAINED HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CCHCR1

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 sample14_s2_s2_001_filtered_dp10_splitted 6 rs3130453
dbSNP Clinvar
31124849 3126.77 C T . 1/1 93 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CLDN5

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs885985
dbSNP Clinvar
19511925 7548.77 G A . 1/1 218 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CNTN5

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs12292659
dbSNP Clinvar
99690376 472.77 C T . 0/1 148 STOP_GAINED HIGH None 0.23515 None None None None None None CNTN5|0.790800052|6.1%

COQ2

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 sample14_s2_s2_001_filtered_dp10_splitted 4 rs112033303
dbSNP Clinvar
84206004 2322.77 T A . 0/1 151 STOP_GAINED HIGH None 0.00998 0.00998 0.01680 None None None None None None COQ2|0.032632343|68.33%

CPN2

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 sample14_s2_s2_001_filtered_dp10_splitted 3 rs4974539
dbSNP Clinvar
194061907 12361.8 G A . 1/1 281 STOP_GAINED HIGH None 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

CYP2D7P

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs2743456
dbSNP Clinvar
42536313 1027.77 G A . 0/1 108 STOP_GAINED HIGH None 0.22983 0.22980 None None None None None None None

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs2285943
dbSNP Clinvar
21582963 7159.77 G T . 1/1 227 STOP_GAINED HIGH None 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

DPEP2

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 sample14_s2_s2_001_filtered_dp10_splitted 16 rs144339907
dbSNP Clinvar
68025998 3032.77 A C . 0/1 252 STOP_GAINED HIGH None 0.00080 0.00080 0.00216 None None None None None None DPEP2|0.010913004|80.14%,DUS2|0.231209011|33.27%

DUOX1

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 sample14_s2_s2_001_filtered_dp10_splitted 15 rs143304688
dbSNP Clinvar
45436245 1403.77 C T . 0/1 110 STOP_GAINED HIGH None 0.00080 0.00080 0.00069 None None None None None None DUOX1|0.119511675|47.53%

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 sample14_s2_s2_001_filtered_dp10_splitted 15 rs57809907
dbSNP Clinvar
55722882 2467.77 C A . 0/1 149 STOP_GAINED HIGH None 0.17552 0.17550 0.19988 None None None None None None DYX1C1|0.073770721|56.56%

FAM104B

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 sample14_s2_s2_001_filtered_dp10_splitted X rs113263757
dbSNP Clinvar
55172630 28.77 G A LowQual 0/1 702 STOP_GAINED HIGH None None None None None None None FAM104B|0.001440975|93.08%

FCRL6

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs61823162
dbSNP Clinvar
159785413 5726.77 C T . 1/1 131 STOP_GAINED HIGH None 0.05771 0.05771 0.10080 None None None None None None FCRL6|0.001326512|93.71%

FOXD4L3

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 sample14_s2_s2_001_filtered_dp10_splitted 9 rs7034645
dbSNP Clinvar
70918189 916.77 A T . 0/1 44 STOP_GAINED HIGH None None None None None None None FOXD4L3|0.008743252|81.91%

FRG1B

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 sample14_s2_s2_001_filtered_dp10_splitted 20 rs796333808
dbSNP Clinvar
29632660 1476.77 G T . 0/1 205 STOP_GAINED HIGH None None None None None None None FRG1B|0.009509512|81.26%

FUT2

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 sample14_s2_s2_001_filtered_dp10_splitted 19 rs601338
dbSNP Clinvar
49206674 4515.77 G A . 0/1 318 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

GAB4

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs28502153
dbSNP Clinvar
17469049 1133.77 C A . 0/1 97 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

GOLGA6L1

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 sample14_s2_s2_001_filtered_dp10_splitted 15 . 22742550 615.77 G A . 0/1 147 STOP_GAINED HIGH None None None None None None None GOLGA6L1|0.00137841|93.48%

HAPLN3

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 sample14_s2_s2_001_filtered_dp10_splitted 15 rs8039131
dbSNP Clinvar
89436295 572.77 G A . 0/1 36 STOP_GAINED HIGH None 0.39756 0.39760 None None None None None None HAPLN3|0.017075208|75.79%

HLA-DQB1

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 sample14_s2_s2_001_filtered_dp10_splitted 6 rs1130385
dbSNP Clinvar
32632638 1660.77 C A . 0/1 87 STOP_GAINED HIGH None 0.01036 None None None None None None HLA-DQB1|0.132406558|45.55%

HLA-DRB1

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 sample14_s2_s2_001_filtered_dp10_splitted 6 rs9269958
dbSNP Clinvar
32552143 279.77 C T . 0/1 115 STOP_GAINED HIGH None 0.69429 0.69430 None None None None None None HLA-DRB1|0.032266025|68.49%

IFNA10

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 sample14_s2_s2_001_filtered_dp10_splitted 9 rs10119910
dbSNP Clinvar
21207037 4889.77 A T . 0/1 354 STOP_GAINED HIGH None 2.78 0.00 0.1247 T None None None None IFNA10|0.00042174|98.84%

IGSF10

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 sample14_s2_s2_001_filtered_dp10_splitted 3 rs79363433
dbSNP Clinvar
151162965 1952.77 C A . 0/1 165 STOP_GAINED HIGH None 0.00280 0.00280 0.00277 None None None None None None IGSF10|0.008692061|81.95%

IGSF3

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs139013364
dbSNP Clinvar
117156585 830.77 G A . 0/1 235 STOP_GAINED HIGH None None None None None None None IGSF3|0.084306798|54.35%
View sample14_s2_s2_001_filtered_dp10_splitted 1 rs61730489
dbSNP Clinvar
117142868 1528.77 C T . 0/1 247 STOP_GAINED HIGH None None None None None None None IGSF3|0.084306798|54.35%

KMT2C

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs201234598
dbSNP Clinvar
151945256 555.77 G A . 0/1 234 STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

KRT37

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs78158550
dbSNP Clinvar
39579059 488.77 G A . 0/1 128 STOP_GAINED HIGH None 0.17213 0.17210 None None None None None None KRT37|0.01861193|74.92%

KRT38

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs148768443
dbSNP Clinvar
39595484 64.77 G A . 0/1 260 STOP_GAINED HIGH None None None None None None None KRT38|0.008684534|81.96%

KRTAP10-6

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 sample14_s2_s2_001_filtered_dp10_splitted 21 rs233303
dbSNP Clinvar
46011583 4040.77 G T . 0/1 419 STOP_GAINED HIGH None 0.21625 0.21630 0.21621 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%

KRTAP5-1

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs141196473
dbSNP Clinvar
1605740 2026.77 G C . 0/1 172 STOP_GAINED HIGH None 0.00040 0.00040 0.00039 None None None None None None KRTAP5-1|0.008297724|82.35%

LCN10

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 sample14_s2_s2_001_filtered_dp10_splitted 9 rs9886752
dbSNP Clinvar
139634495 1142.77 G A . 0/1 88 STOP_GAINED HIGH None 0.19928 0.19930 0.16256 None None None None None None LCN10|0.001307936|93.85%

MAP2K3

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs55796947
dbSNP Clinvar
21204210 2252.77 C T . 0/1 301 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MCTP1

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 sample14_s2_s2_001_filtered_dp10_splitted 5 . 94619975 3985.77 G T . 0/1 297 STOP_GAINED HIGH None None None None None None None MCTP1|0.904537145|3.36%

MS4A2

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs138180929
dbSNP Clinvar
59861473 1136.77 G T . 0/1 87 STOP_GAINED HIGH None 0.00116 None None None None None None MS4A2|0.000999347|95.44%

MT1HL1

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 sample14_s2_s2_001_filtered_dp10_splitted 1 . 237167652 3637.77 G T . 0/1 306 STOP_GAINED HIGH None None None None None None None MT1HL1|0.002928676|88.76%

MUC19

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 sample14_s2_s2_001_filtered_dp10_splitted 12 . 40878327 134.77 C A . 0/1 56 STOP_GAINED HIGH None None None None None None None MUC19|0.001564481|92.49%
View sample14_s2_s2_001_filtered_dp10_splitted 12 . 40876713 58.77 T A . 0/1 33 STOP_GAINED HIGH None None None None None None None MUC19|0.001564481|92.49%

MUC3A

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs79874934
dbSNP Clinvar
100552738 2212.77 C T . 0/1 187 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

MUC6

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs201054567
dbSNP Clinvar
1017466 329.77 T A . 0/1 628 STOP_GAINED HIGH None 7.85 None None None None None None MUC6|0.00166044|92.04%

NACA2

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs17610181
dbSNP Clinvar
59667953 1983.77 G A . 0/1 189 STOP_GAINED HIGH None 0.14796 0.14800 0.12133 None None None None None None NACA2|0.016130697|76.39%

NBPF24

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs200802363
dbSNP Clinvar
147597237 166.77 G A . 0/1 48 STOP_GAINED HIGH None 0.05431 0.05431 None None None None None None None

NBPF9

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs114576842
dbSNP Clinvar
144828764 110.77 G T . 0/1 157 STOP_GAINED HIGH None None None None None None None NBPF9|0.001397166|93.36%

NCOR1

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs78230791
dbSNP Clinvar
16068343 2402.77 G A . 0/1 100 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%

NDUFB9

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 sample14_s2_s2_001_filtered_dp10_splitted 8 rs6470252
dbSNP Clinvar
125579990 5408.77 C T . 1/1 131 STOP_GAINED HIGH None 0.62460 0.62460 None None None None None None NDUFB9|0.09890784|51.37%,MTSS1|0.361449802|23.34%

OR10J1

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs12409540
dbSNP Clinvar
159410340 2353.77 T A . 0/1 199 STOP_GAINED HIGH None 0.08446 0.08446 0.10710 None None None None None None OR10J1|0.010947724|80.11%

OR10X1

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs863362
dbSNP Clinvar
158549492 4290.77 C T . 0/1 235 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

OR2J1

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 sample14_s2_s2_001_filtered_dp10_splitted 6 rs2394517
dbSNP Clinvar
29069299 2515.77 C T . 1/1 68 STOP_GAINED HIGH None 0.33706 0.33710 None None None None None None OR2J1|0.002737033|89.18%

OR2L8

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs10888281
dbSNP Clinvar
248113026 9921.77 T A . 1/1 233 STOP_GAINED HIGH None 0.74581 0.74580 0.25235 None None None None None None OR2L13|0.004043561|86.95%,OR2L8|0.001567189|92.47%

OR4C16

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs1459101
dbSNP Clinvar
55339652 806.77 C T . 0/1 91 STOP_GAINED HIGH None 0.25260 0.25260 0.21941 None None None None None None OR4C16|0.00479956|86.1%

OR4X1

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs10838851
dbSNP Clinvar
48286231 2776.77 T A . 0/1 187 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR51Q1

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs2647574
dbSNP Clinvar
5444136 3798.77 C T . 0/1 266 STOP_GAINED HIGH None 0.45387 0.45390 0.36196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR52J3

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs57026471
dbSNP Clinvar
5068662 1068.77 C T . 0/1 107 STOP_GAINED HIGH None 0.11322 0.11320 0.08271 None None None None None None OR52J3|0.009426184|81.35%

OR5AR1

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs11228710
dbSNP Clinvar
56431216 3801.77 C T . 1/1 114 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

OR5L2

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs148523172
dbSNP Clinvar
55595173 3889.77 C A . 0/1 235 STOP_GAINED HIGH None 0.00020 0.00020 0.00008 None None None None None None OR5L2|0.010073786|80.79%

P4HA3

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs3741132
dbSNP Clinvar
73978243 1874.77 G A . 0/1 161 STOP_GAINED HIGH None 0.22664 0.22660 0.18589 None None None None None None P4HA3|0.142053644|44.14%

PDE4DIP

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs1698683
dbSNP Clinvar
144916676 674.77 C T . 0/1 219 STOP_GAINED HIGH None 0.32120 None None None None None None PDE4DIP|0.07469644|56.36%
View sample14_s2_s2_001_filtered_dp10_splitted 1 rs1778111
dbSNP Clinvar
144915561 3181.78 G A . 0/1 282 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View sample14_s2_s2_001_filtered_dp10_splitted 1 rs2762779
dbSNP Clinvar
145075683 6576.77 C T . 0/1 743 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

PRAMEF1

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs146835774
dbSNP Clinvar
12856105 4903.77 C G . 0/1 667 STOP_GAINED HIGH None None None None None None None PRAMEF1|0.000484368|98.53%
View sample14_s2_s2_001_filtered_dp10_splitted 1 rs79698223
dbSNP Clinvar
12854090 3736.77 T A . 0/1 486 STOP_GAINED HIGH None None None None None None None PRAMEF1|0.000484368|98.53%

PRB4

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 sample14_s2_s2_001_filtered_dp10_splitted 12 rs12829245
dbSNP Clinvar
11461802 19.81 G A LowQual 0/1 25 STOP_GAINED HIGH None 0.07528 0.07528 0.13531 None None None None None None PRB4|0.000561665|98.11%

PRIM2

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 sample14_s2_s2_001_filtered_dp10_splitted 6 rs62398999
dbSNP Clinvar
57398270 1536.77 C T . 0/1 248 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%

PRODH

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs11913840
dbSNP Clinvar
18912677 1920.77 C T . 0/1 185 STOP_GAINED HIGH None 0.05631 0.05631 0.05828 None None None None None None PRODH|0.133392589|45.38%

PVRIG

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs7786505
dbSNP Clinvar
99817585 1670.77 G T . 0/1 162 STOP_GAINED HIGH None 0.15415 0.15420 0.22270 None None None None None None STAG3|0.033904803|67.81%,GATS|0.004892386|85.92%,PVRIG|0.001754281|91.66%

RFPL1

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs12484086
dbSNP Clinvar
29837884 5537.77 C T . 0/1 399 STOP_GAINED HIGH None 0.12500 0.12500 0.17910 None None None None None None RFPL1|0.000705614|97.22%

RP11-1407O15.2

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 sample14_s2_s2_001_filtered_dp10_splitted 17 . 36353761 108.77 C T . 0/1 427 STOP_GAINED HIGH None 0.19529 None None None None None None TBC1D3|0.001314846|93.78%

SLC22A10

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs1790218
dbSNP Clinvar
63057925 2595.77 G A . 0/1 215 STOP_GAINED HIGH None 0.43351 0.43350 0.47938 None None None None None None SLC22A10|0.000698114|97.25%

SLC22A24

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs11231341
dbSNP Clinvar
62848487 2430.77 A C . 0/1 158 STOP_GAINED HIGH None 0.75399 0.75400 0.25340 None None None None None None SLC22A24|0.000834138|96.47%

SLC35G6

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs7214088
dbSNP Clinvar
7386280 8642.77 G A . 0/1 424 STOP_GAINED HIGH None 0.74641 0.74640 None None None None None None ZBTB4|0.110313063|49.14%,SLC35G6|0.045233957|64.16%

SLC5A9

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs850763
dbSNP Clinvar
48708228 2079.77 G T . 0/1 189 STOP_GAINED HIGH None 0.11382 0.11380 0.14809 None None None None None None SLC5A9|0.077112807|55.87%

SLC9B1P1

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 sample14_s2_s2_001_filtered_dp10_splitted Y rs373109292
dbSNP Clinvar
13500658 88.77 T A . 0/1 21 STOP_GAINED HIGH None None None None None None None SLC9B1P1|0.002112226|90.7%

SLFN13

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs8072510
dbSNP Clinvar
33772658 7336.77 G T . 1/1 218 STOP_GAINED HIGH None 0.09265 0.09265 0.10011 None None None None None None SLFN13|0.00106256|95.09%

STARD9

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 sample14_s2_s2_001_filtered_dp10_splitted 15 . 42979522 2678.77 C T . 0/1 201 STOP_GAINED HIGH None None None None None None None STARD9|0.028536353|70.17%

TCP11L1

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 sample14_s2_s2_001_filtered_dp10_splitted 11 rs3758741
dbSNP Clinvar
33106616 2120.77 C T . 0/1 133 STOP_GAINED HIGH None 0.22903 0.22900 0.31231 None None None None None None TCP11L1|0.066682855|58.23%,CSTF3|0.816291076|5.41%

TTC28

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 sample14_s2_s2_001_filtered_dp10_splitted 22 rs180764192
dbSNP Clinvar
29075651 17.84 G A LowQual 0/1 115 STOP_GAINED HIGH None None None None None None None TTC28|0.439812239|18.66%

TTC4

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 sample14_s2_s2_001_filtered_dp10_splitted 1 rs1147990
dbSNP Clinvar
55182300 4390.77 T A . 1/1 138 STOP_GAINED HIGH None 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None TTC4|0.085109121|54.15%

UBE2NL

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 sample14_s2_s2_001_filtered_dp10_splitted X rs237520
dbSNP Clinvar
142967468 6549.77 T G . 1/1 193 STOP_GAINED HIGH None 0.61748 0.61750 0.33314 None None None None None None UBE2NL|0.004200754|86.73%

USP17L10

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 sample14_s2_s2_001_filtered_dp10_splitted 4 rs368968666
dbSNP Clinvar
9212403 619.77 C G . 0/1 440 STOP_GAINED HIGH None None None None None None None USP17L10|0.002887906|88.87%,USP17L13|0.001354839|93.57%

USP29

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 sample14_s2_s2_001_filtered_dp10_splitted 19 rs9973206
dbSNP Clinvar
57642782 7813.77 C A . 1/1 229 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%

ZACN

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 sample14_s2_s2_001_filtered_dp10_splitted 17 rs1043149
dbSNP Clinvar
74077797 3985.77 C T . 0/1 304 STOP_GAINED HIGH None 0.18890 0.18890 0.15001 None None None None None None ZACN|0.001720136|91.81%,EXOC7|0.311837374|26.7%

ZC3H3

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 sample14_s2_s2_001_filtered_dp10_splitted 8 rs2272754
dbSNP Clinvar
144522387 8651.77 G T . 1/1 210 STOP_GAINED HIGH None 0.11182 0.11180 0.08943 None None None None None None ZC3H3|0.004437994|86.46%

ZNF107

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 sample14_s2_s2_001_filtered_dp10_splitted 7 . 64168758 25.78 T A LowQual 0/1 63 STOP_GAINED HIGH None None None None None None None ZNF107|0.001700188|91.88%

ZNF117

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 sample14_s2_s2_001_filtered_dp10_splitted 7 rs1404453
dbSNP Clinvar
64438667 1965.77 G A . 1/1 68 STOP_GAINED HIGH None 0.88179 0.88180 0.10150 None None None None None None ZNF117|0.000669116|97.44%

ZNF486

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 sample14_s2_s2_001_filtered_dp10_splitted 19 . 20308786 72.77 G T . 0/1 153 STOP_GAINED HIGH None None None None None None None ZNF486|0.001639442|92.17%

ZNF519

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 sample14_s2_s2_001_filtered_dp10_splitted 18 . 14105152 217.77 C A . 0/1 86 STOP_GAINED HIGH None None None None None None None ZNF519|0.00085868|96.29%

ZNF717

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 sample14_s2_s2_001_filtered_dp10_splitted 3 rs201399274
dbSNP Clinvar
75787490 48.77 A T . 0/1 108 STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%
View sample14_s2_s2_001_filtered_dp10_splitted 3 . 75786175 171.77 C A . 0/1 319 STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%

ZNF729

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 sample14_s2_s2_001_filtered_dp10_splitted 19 . 22499201 10.2 C A LowQual 0/1 97 STOP_GAINED HIGH None None None None None None None ZNF729|0.000879851|96.15%

ZNF80

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 sample14_s2_s2_001_filtered_dp10_splitted 3 rs3732781
dbSNP Clinvar
113955187 2559.77 A C . 0/1 157 STOP_GAINED HIGH None 0.18550 0.18550 0.20637 None None None None None None ZNF80|0.001570762|92.46%
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