VCF Report
Samples
Variants
Samples
NA12878
Variants
HPO
HP:0000118
GADO high
GADO low
VIP
LQ
B
LB
VUS
LP
P
VKGL
B
LB
VUS
LP
P
No value
ClinVar variant
B
LB
VUS
LP
P
Conflict
NA12878
Inheritance: match
Inheritance: de novo
GT quality >= 20
No allelic imbalance
Depth >= 20
20 records
Sort by
Position
CAPICE (ascending)
CAPICE (descending)
gnomAD AF (ascending)
gnomAD AF (descending)
gnomAD HN (ascending)
gnomAD HN (descending)
Position
Reference
Proband
Effect
Gene
Inh.Pat.
HPO
HGVS C
HGVS P
CAPICE
VIP
VKGL
ClinVar var…
gnomAD AF
gnomAD HN
PubMed
chr5
:
178153531
C
C
/
T
missense_variant
NHP2
AR
HP:0000118
c.190G>A
p.Val64Met
0.9298
LP
VUS
0.0004
0
citations (2)
chr19
:
32676869
C
C
/
C
G
frameshift_variant
RGS9BP
AR
HP:0000118
c.614dup
p.Cys206LeufsTer94
0.8981
LP
VUS
0.0002
0
citations (2)
chr8
:
67422547
G
G
/
A
missense_variant
CPA6
AR
HP:0000118
c.1271C>T
p.Ala424Val
0.8716
LP
VUS
VUS
0.0002
0
citations (2)
chr9
:
2096706
A
A
/
T
missense_variant
SMARCA2
IP
AD
HP:0000118
c.2933A>T
p.Tyr978Phe
0.8258
LP
VUS
chr4
:
169477323
A
A
/
C
missense_variant
NEK1
AR
HP:0000118
c.1929T>G
p.Asn643Lys
0.7929
LP
Conflict
0.0041
2
citations (2)
chr8
:
11845732
C
C
/
G
missense_variant
CTSB
AD
HP:0000118
c.851G>C
p.Gly284Ala
0.7862
LP
0.0000
0
chr5
:
90855813
C
C
/
G
non_coding_transcript_exon_variant
ADGRV1
AR
HP:0000118
n.17683C>G
0.7741
VUS
VUS
VUS
0.0000
0
chr10
:
26088402
C
C
/
T
missense_variant
MYO3A
AR
HP:0000118
c.1559C>T
p.Ala520Val
0.7379
LP
VUS
Conflict
0.0021
0
citations (1)
chr11
:
121157872
C
C
/
G
missense_variant
TECTA
AD
,
AR
HP:0000118
c.4337C>G
p.Thr1446Arg
0.6716
LP
VUS
0.0000
0
chr15
:
84895080
C
C
/
C
T
T
G
inframe_insertion
SLC28A1
AR
HP:0000118
c.419_420insTGT
p.Leu140_Lys141ins…
0.5863
LP
chr15
:
71256656
C
C
/
T
missense_variant
THSD4
AD
HP:0000118
c.956C>T
p.Ala319Val
0.5790
LP
0.0000
0
chr5
:
75379425
T
T
/
C
missense_variant
CERT1
IP
AD
HP:0000118
c.2180A>G
p.Lys727Arg
0.5705
LP
0.0000
0
chrX
:
153909599
G
G
C
/
G
C
downstream_gene_variant
AVPR2
XL
HP:0000118
0.4930
VUS
chr16
:
285708
G
G
/
A
splice_donor_5th_base_variant
,
…
PDIA2
c.1119+5G>A
0.3051
VUS
VUS
0.0007
0
chr3
:
10992891
A
T
A
/
A
5_prime_UTR_variant
SLC6A1
AD
HP:0000118
c.-253del
0.0643
VUS
chr5
:
151339038
C
C
/
T
intron_variant
SLC36A2
AD
,
AR
HP:0000118
c.525+22G>A
0.0129
VUS
0.0002
0
chr2
:
219279389
A
A
/
C
5_prime_UTR_variant
DNAJB2
AR
HP:0000118
c.-166A>C
0.0084
VUS
0.0038
3
chr1
:
156158429
T
T
/
C
5_prime_UTR_variant
SEMA4A
AR
HP:0000118
c.-120T>C
0.0030
VUS
Conflict
0.0004
0
chr19
:
5041113
G
G
/
A
intron_variant
KDM4B
AD
HP:0000118
c.318-24G>A
0.0028
VUS
0.0000
0
chr3
:
165074510
T
T
/
C
intron_variant
SI
AR
HP:0000118
c.255+21A>G
0.0014
VUS
0.0000
0
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