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INDIVIDUALS:

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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
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Genes at Omim

ABCC6, ADAR, ARL13B, EMX2, GMPPB, HMGA1, IGHG2, MTPAP, NOTCH2, SOX9, SYNGAP1, TCF7L2,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ARL13B Joubert syndrome 8, 612291 (3)
EMX2 Schizencephaly, 269160 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IGHG2 IgG2 deficiency, selective (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)

Genes at Clinical Genomics Database

ABCC6, ADAR, ARL13B, CFHR4, EMX2, GMPPB, MTPAP, NOTCH2, SOX9, SYNGAP1,
ABCC6 Pseudoxanthoma elasticum
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ARL13B Joubert syndrome 8
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
EMX2 Schizencephaly
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
MTPAP Spastic ataxia 4, autosomal recessive
NOTCH2 Alagille syndrome 2
SOX9 46, XY sex reversal 10
Campomelic dysplasia
SYNGAP1 Mental retardation, autosomal dominant 5

Genes at HGMD

Summary

Number of Variants: 1253
Number of Genes: 176

Export to: CSV

ABCC6

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 combined sample_42.variant6 16 rs72664282
dbSNP Clinvar
16306059 106.51 C T DRAGENHardSNP 0/1 10 SYNONYMOUS_CODING LOW None 0.01877 0.01877 None None None None None None ABCC6|0.022547171|72.9%

ADAR

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 combined sample_42.variant6 1 rs775562499
dbSNP Clinvar
154600405 292.22 T C DRAGENHardSNP 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.16 None None None None None None ADAR|0.149816666|43.06%
View combined sample_42.variant6 1 rs760877932
dbSNP Clinvar
154600411 215.98 A C DRAGENHardSNP 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.32 None None None None None None ADAR|0.149816666|43.06%
View combined sample_42.variant6 1 rs888016800
dbSNP Clinvar
154600401 73.69 A C DRAGENHardSNP 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ADAR|0.149816666|43.06%

AGAP4

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 combined sample_42.variant6 10 rs202104169
dbSNP Clinvar
46321904 448.81 C T DRAGENHardSNP 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.11 None None None None None None AGAP4|0.00701941|83.47%

AGAP7

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 combined sample_42.variant6 10 rs61850063
dbSNP Clinvar
51464656 228.53 G C DRAGENHardSNP 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.08 0.18 None None None None None None AGAP7P|0.001668593|92.02%
View combined sample_42.variant6 10 rs199898426
dbSNP Clinvar
51465650 1728.15 C T DRAGENHardSNP 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.38059 0.38060 0.02 0.38 None None None None None None AGAP7P|0.001668593|92.02%
View combined sample_42.variant6 10 rs201025969
dbSNP Clinvar
51465138 757.93 C T DRAGENHardSNP 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.16673 0.16670 0.03 0.15 None None None None None None AGAP7P|0.001668593|92.02%

AGAP8

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 combined sample_42.variant6 10 rs782795368
dbSNP Clinvar
51225872 176.62 G T DRAGENHardSNP 1/1 8 SYNONYMOUS_CODING LOW None None None None None None None None
View combined sample_42.variant6 10 rs80103077
dbSNP Clinvar
51225623 152.92 A G DRAGENHardSNP 1/1 12 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None

AGAP9

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 combined sample_42.variant6 10 rs200283865
dbSNP Clinvar
48235892 308.2 C T DRAGENHardSNP 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None AGAP9|0.003287592|88.1%

AL603965.1

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 combined sample_42.variant6 10 rs782340671
dbSNP Clinvar
47769358 248.84 G A DRAGENHardSNP 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None
View combined sample_42.variant6 10 rs61841517
dbSNP Clinvar
47769356 89.07 C A DRAGENHardSNP 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None

AMY2A

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 combined sample_42.variant6 1 rs1140401
dbSNP Clinvar
104166496 801.27 T C DRAGENHardSNP 1/1 217 SYNONYMOUS_CODING LOW None None None None None None None AMY2A|0.010704532|80.36%

ANKRD20A1

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 combined sample_42.variant6 9 rs62542472
dbSNP Clinvar
67968476 581.33 C T DRAGENHardSNP 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%

ANKRD20A4

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 combined sample_42.variant6 9 rs200306562
dbSNP Clinvar
69423823 293.14 C A DRAGENHardSNP 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 . 69423700 499.42 G A DRAGENHardSNP 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 rs200741673
dbSNP Clinvar
69423703 499.42 A C DRAGENHardSNP 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.18 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 rs201112034
dbSNP Clinvar
69423721 539.21 G A DRAGENHardSNP 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.52 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 rs77404847
dbSNP Clinvar
69423755 291.74 G C DRAGENHardSNP 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.68 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 rs75696372
dbSNP Clinvar
69423792 313.93 A T DRAGENHardSNP 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.13 None None None None None None ANKRD20A4|0.002453356|89.79%
View combined sample_42.variant6 9 rs202130567
dbSNP Clinvar
69423821 293.14 C T DRAGENHardSNP 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.28 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%

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 combined sample_42.variant6 10 rs2997349
dbSNP Clinvar
37478445 253.29 G A DRAGENHardSNP 1/1 26 SYNONYMOUS_CODING LOW None 0.93171 0.93170 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD34A

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 combined sample_42.variant6 1 rs781900571
dbSNP Clinvar
145474626 610.64 A C DRAGENHardSNP 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.56 None None None None None None ANKRD34A|0.19061906|37.75%
View combined sample_42.variant6 1 rs782661640
dbSNP Clinvar
145474630 159.58 T C DRAGENHardSNP 0/1 213 SYNONYMOUS_CODING LOW None None None None None None None ANKRD34A|0.19061906|37.75%

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 combined sample_42.variant6 2 rs760504696
dbSNP Clinvar
96601236 38.41 G A DRAGENHardSNP 0/1 53 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%

ANKRD6

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 combined sample_42.variant6 6 . 90333710 170.17 A C DRAGENHardSNP 0/1 130 SYNONYMOUS_CODING LOW None None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

ARHGEF15

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 combined sample_42.variant6 17 . 8216393 354.21 A C DRAGENHardSNP 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View combined sample_42.variant6 17 . 8216397 357.22 T C DRAGENHardSNP 0/1 135 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF15|0.03636471|66.99%
View combined sample_42.variant6 17 . 8216400 136.46 A C DRAGENHardSNP 0/1 119 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF15|0.03636471|66.99%

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 combined sample_42.variant6 7 rs3823677
dbSNP Clinvar
144060802 175.43 C T DRAGENHardSNP 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None ARHGEF5|0.018074391|75.24%

ARL13B

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 combined sample_42.variant6 3 . 93768353 95.28 A C DRAGENHardSNP 0/1 85 SYNONYMOUS_CODING LOW None None None None None None None ARL13B|0.209575721|35.63%,DHFRL1|0.005806984|84.81%

BMP8B

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 combined sample_42.variant6 1 rs179472
dbSNP Clinvar
40230336 1746.8 C G DRAGENHardSNP 0/1 626 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None BMP8B|0.042910691|64.83%

BX088651.1

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 combined sample_42.variant6 9 rs62539453
dbSNP Clinvar
44401960 60.22 G A DRAGENHardSNP 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None None

C6orf201

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 combined sample_42.variant6 6 rs767343264
dbSNP Clinvar
4079857 135.99 A C DRAGENHardSNP 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None FAM217A|0.02585392|71.39%,C6orf201|0.002009293|90.99%

CBWD6

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 combined sample_42.variant6 9 rs62553375
dbSNP Clinvar
69206924 234.07 T A DRAGENHardSNP 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None CBWD6|0.011508605|79.59%

CCDC144A

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 combined sample_42.variant6 17 rs3869489
dbSNP Clinvar
16664991 201.3 G A DRAGENHardSNP 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.24661 0.24660 0.14353 0.08 0.04 None None None None None None CCDC144A|0.002171352|90.51%

CCDC74A

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 combined sample_42.variant6 2 rs199636226
dbSNP Clinvar
132288166 65.7 A G DRAGENHardSNP 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00167 0.61 0.26 None None None None None None CCDC74A|0.002342397|90.07%

CCZ1

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 combined sample_42.variant6 7 rs200812052
dbSNP Clinvar
5959485 3292.64 G A DRAGENHardSNP 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None CCZ1|0.176689496|39.44%

CEP170B

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 combined sample_42.variant6 14 . 105350361 104.94 A C DRAGENHardSNP 0/1 156 SYNONYMOUS_CODING LOW None None None None None None None CEP170B|0.008847309|81.8%

CFHR4

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 combined sample_42.variant6 1 rs150845796
dbSNP Clinvar
196884258 703.05 A T DRAGENHardSNP 0/1 154 SYNONYMOUS_CODING LOW None None None None None None None CFHR2|0.000734452|97.12%,CFHR4|0.00081092|96.59%

CH17-132F21.1

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 combined sample_42.variant6 2 rs868607210
dbSNP Clinvar
90458434 808.03 A G DRAGENHardSNP 0/1 86 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None
View combined sample_42.variant6 2 rs368855200
dbSNP Clinvar
90458606 826.64 C T DRAGENHardSNP 0/1 684 SYNONYMOUS_CODING LOW None None None None None None None None
View combined sample_42.variant6 2 rs796119898
dbSNP Clinvar
90458594 4017.35 T C DRAGENHardSNP 0/1 604 SYNONYMOUS_CODING LOW None None None None None None None None
View combined sample_42.variant6 2 rs879130175
dbSNP Clinvar
90458538 1200.33 T C DRAGENHardSNP 0/1 288 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None

CHRNA7

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 combined sample_42.variant6 15 rs1042722
dbSNP Clinvar
32450704 719.08 G A DRAGENHardSNP 0/1 278 SYNONYMOUS_CODING LOW None None None None None None None CHRNA7|0.168515319|40.52%

CLEC18B

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 combined sample_42.variant6 16 rs62056016
dbSNP Clinvar
74452071 3567.8 G A DRAGENHardSNP 0/1 840 SYNONYMOUS_CODING LOW None None None None None None None CLEC18B|0.011397398|79.7%

CLEC18C

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 combined sample_42.variant6 16 rs62052576
dbSNP Clinvar
70211199 249.73 T C DRAGENHardSNP 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_42.variant6 16 rs3869429
dbSNP Clinvar
70211380 844.45 G A DRAGENHardSNP 0/1 180 SYNONYMOUS_CODING LOW None None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_42.variant6 16 rs3869428
dbSNP Clinvar
70211370 880.43 C G DRAGENHardSNP 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.01 None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_42.variant6 16 rs2549610
dbSNP Clinvar
70211290 2847.9 T C DRAGENHardSNP 0/1 399 SYNONYMOUS_CODING LOW None None None None None None None CLEC18C|0.029999464|69.41%
View combined sample_42.variant6 16 rs62052577
dbSNP Clinvar
70211226 1818.43 T C DRAGENHardSNP 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.46 0.00 None None None None None None CLEC18C|0.029999464|69.41%

CNN2

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 combined sample_42.variant6 19 rs75602230
dbSNP Clinvar
1037828 40.51 A G DRAGENHardSNP 0/1 285 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CNN2|0.028130209|70.37%
View combined sample_42.variant6 19 rs80286396
dbSNP Clinvar
1037833 52.39 C A DRAGENHardSNP 0/1 278 SYNONYMOUS_CODING LOW None None None None None None None CNN2|0.028130209|70.37%

CNTNAP3B

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 combined sample_42.variant6 9 rs879954183
dbSNP Clinvar
43915463 30.74 G T DRAGENHardSNP 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_42.variant6 9 . 43915544 106.77 C T DRAGENHardSNP 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_42.variant6 9 . 43915557 94.73 C T DRAGENHardSNP 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.68 None None None None None None CNTNAP3B|0.003821974|87.27%
View combined sample_42.variant6 9 . 43915556 94.73 G T DRAGENHardSNP 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None CNTNAP3B|0.003821974|87.27%

CPSF3L

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 combined sample_42.variant6 1 . 1257289 1012.93 T C DRAGENHardSNP 0/1 275 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CPSF3L|0.282030759|28.96%

CROCC

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 combined sample_42.variant6 1 rs143866013
dbSNP Clinvar
17275337 34.96 C T DRAGENHardSNP 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.95 None None None None None None CROCC|0.082326199|54.7%

CTAGE9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_42.variant6 6 rs200752094
dbSNP Clinvar
132030137 439.84 T A DRAGENHardSNP 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.01 0.56 None None None None None None ENPP3|0.065798874|58.41%,CTAGE9|0.00158445|92.39%
View combined sample_42.variant6 6 rs200750273
dbSNP Clinvar
132030560 448.86 G A DRAGENHardSNP 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.31250 0.31250 0.14 0.13 None None None None None None ENPP3|0.065798874|58.41%,CTAGE9|0.00158445|92.39%

CTB-134H23.2

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 combined sample_42.variant6 16 rs80304694
dbSNP Clinvar
29063626 3838.97 C A DRAGENHardSNP 0/1 205 SYNONYMOUS_CODING LOW None 0.43091 0.43090 None None None None None None None
View combined sample_42.variant6 16 rs62035283
dbSNP Clinvar
29057392 602.01 A G DRAGENHardSNP 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.14717 0.14720 0.15 None None None None None None None

DNASE1L2

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 combined sample_42.variant6 16 rs993537271
dbSNP Clinvar
2287501 602.05 T C DRAGENHardSNP 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None DNASE1L2|0.018597779|74.93%
View combined sample_42.variant6 16 rs773488458
dbSNP Clinvar
2287496 1050.23 T C DRAGENHardSNP 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None DNASE1L2|0.018597779|74.93%

DTX2

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 combined sample_42.variant6 7 rs145964625
dbSNP Clinvar
76126737 135.7 C T DRAGENHardSNP 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None DTX2|0.152388002|42.62%

DUX4L4

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 combined sample_42.variant6 4 . 191002307 61.77 C A DRAGENHardSNP 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002320 61.77 G A DRAGENHardSNP 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002324 61.77 C T DRAGENHardSNP 1/1 2 STOP_GAINED HIGH None None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002359 61.77 C A,T DRAGENHardSNP 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.09 None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002370 61.77 C A DRAGENHardSNP 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.38 None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002308 61.77 C T,G DRAGENHardSNP 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191003687 61.77 T A DRAGENHardSNP 1/1 2 None None None 0.01 0.03 None None None None None None DUX4L4|0.001517207|92.7%
View combined sample_42.variant6 4 . 191002284 61.77 G T DRAGENHardSNP 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DUX4L4|0.001517207|92.7%

EMILIN3

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 combined sample_42.variant6 20 . 39990828 65.42 A C DRAGENHardSNP 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.42 0.00 None None None None None None EMILIN3|0.03870075|66.2%

EMX2

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 combined sample_42.variant6 10 rs765761502
dbSNP Clinvar
119303022 225.28 G C DRAGENHardSNP 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None EMX2|0.742134957|7.32%
View combined sample_42.variant6 10 rs746663938
dbSNP Clinvar
119303012 544.73 G C DRAGENHardSNP 0/1 156 SYNONYMOUS_CODING LOW None None None None None None None EMX2|0.742134957|7.32%

ERVV-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 combined sample_42.variant6 19 rs3844441
dbSNP Clinvar
53553125 1215.38 C T DRAGENHardSNP 0/1 226 SYNONYMOUS_CODING LOW None 0.34565 0.34560 None None None None None None ERVV-2|0.001792974|91.55%

ERVW-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 combined sample_42.variant6 7 rs376336995
dbSNP Clinvar
92098567 122.03 C A DRAGENHardSNP 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.34 None None None None None None ERVW-1|0.015639065|76.69%
View combined sample_42.variant6 7 rs757474712
dbSNP Clinvar
92098717 41.71 C T DRAGENHardSNP 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.83 None None None None None None ERVW-1|0.015639065|76.69%
View combined sample_42.variant6 7 rs372010298
dbSNP Clinvar
92098549 42.98 G A DRAGENHardSNP 0/1 114 STOP_GAINED HIGH None None None None None None None ERVW-1|0.015639065|76.69%
View combined sample_42.variant6 7 rs779021269
dbSNP Clinvar
92098721 41.7 T G DRAGENHardSNP 0/1 116 SYNONYMOUS_CODING LOW None None None None None None None ERVW-1|0.015639065|76.69%

FAM115C

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 combined sample_42.variant6 7 rs62486261
dbSNP Clinvar
143417083 711.81 T C DRAGENHardSNP 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.22 None None None None None None TCAF2|0.0052901|85.43%

FAM27E1

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 combined sample_42.variant6 9 rs74921776
dbSNP Clinvar
46386994 91.56 C T DRAGENHardSNP 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_42.variant6 9 rs199845075
dbSNP Clinvar
46386995 91.56 C A DRAGENHardSNP 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_42.variant6 9 rs200544395
dbSNP Clinvar
46386956 304.23 C G DRAGENHardSNP 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.98 None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_42.variant6 9 rs78376488
dbSNP Clinvar
46386910 274.6 T C DRAGENHardSNP 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None FAM27E1|0.001351439|93.58%
View combined sample_42.variant6 9 rs78263181
dbSNP Clinvar
46386902 277.6 G A DRAGENHardSNP 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.99 None None None None None None FAM27E1|0.001351439|93.58%

FAM27E3

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 combined sample_42.variant6 9 . 67786055 34.68 C T DRAGENHardSNP 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FAM27E3|0.001663605|92.03%
View combined sample_42.variant6 9 . 67786032 31.66 G T DRAGENHardSNP 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.00 None None None None None None FAM27E3|0.001663605|92.03%
View combined sample_42.variant6 9 . 67786037 31.66 C T DRAGENHardSNP 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.36 0.00 None None None None None None FAM27E3|0.001663605|92.03%
View combined sample_42.variant6 9 . 67786045 31.66 C T DRAGENHardSNP 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None FAM27E3|0.001663605|92.03%
View combined sample_42.variant6 9 rs2257404
dbSNP Clinvar
67786061 34.68 C T DRAGENHardSNP 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None FAM27E3|0.001663605|92.03%
View combined sample_42.variant6 9 . 67786057 34.68 T C DRAGENHardSNP 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None FAM27E3|0.001663605|92.03%

FAM86B1

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 combined sample_42.variant6 8 rs142379100
dbSNP Clinvar
12042880 127.64 T C DRAGENHardSNP 1/1 14 None None None None None None None None None FAM86B1|0.001793469|91.55%
View combined sample_42.variant6 8 rs147720693
dbSNP Clinvar
12042822 421.77 C T DRAGENHardSNP 1/1 3 None None None 0.09 None None None None None None FAM86B1|0.001793469|91.55%

FAM86B2

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 combined sample_42.variant6 8 rs2684093
dbSNP Clinvar
12291593 378.74 C A DRAGENHardSNP 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.29 None None None None None None FAM86B2|0.001900627|91.24%
View combined sample_42.variant6 8 rs148629503
dbSNP Clinvar
12287957 111.92 C T DRAGENHardSNP 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None FAM86B2|0.001900627|91.24%

FBXW10

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 combined sample_42.variant6 17 rs143662391
dbSNP Clinvar
18647651 98.51 T C DRAGENHardSNP 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00 0.94 None None None None None None FBXW10|0.006929798|83.58%