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Werling2018
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Results for "Werling2018"
Variant Events: 339
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
PHIP
14228.p1
chr6:
79735235-79735240
CTTTAT
C
exonic
De novo
frameshift deletion
NM_017934
c.919_923del
p.I307fs
-
8.287E-6
Werling2018
G
MIR4445
11002.p1
chr3:
109381542-109381544
CAG
C
intergenic
De novo
-
-
Werling2018
G
ROR2
13874.p1
chr9:
94759166-94759166
C
T
intergenic
De novo
-
-
Werling2018
G
CTTNBP2
11030.p1
chr7:
117662307-117662308
GA
G
intergenic
De novo
-
-
Werling2018
G
EDIL3
11030.p1
chr5:
83573296-83573301
TTTATA
T
intronic
Unknown
-
-
Werling2018
G
ZNF43
11265.p1
chr19:
22108117-22108119
TGA
T
intergenic
De novo
-
-
Werling2018
G
FAM57A
11258.p1
chr17:
646137-646137
C
CT
downstream
De novo
-
-
Werling2018
G
11348.p1
chr12:
127485716-127485716
T
TA
ncRNA_intronic
De novo
-
-
Werling2018
G
CTNND2
11328.p1
chr5:
11175102-11175109
TCTATTAA
T
intronic
De novo
-
-
Werling2018
G
OTUD7A
11064.p1
chr15:
31954589-31954592
ACTT
A
intergenic
De novo
-
-
Werling2018
G
KCNIP4
11057.p1
chr4:
21079014-21079014
T
TA
intronic
De novo
-
-
Werling2018
G
LINC00222
11241.p1
chr6:
109081781-109081783
AGG
A
ncRNA_intronic
De novo
-
-
Werling2018
G
ATG16L1
11234.p1
chr2:
234180409-234180411
CAT
C
intronic
De novo
-
-
Werling2018
G
MPPE1
11565.p1
chr18:
11909626-11909626
T
TA
upstream
De novo
-
-
Werling2018
G
GDPD5
11474.p1
chr11:
75198994-75198995
TA
T
intronic
De novo
-
-
Werling2018
G
LOC101927640
11587.p1
chr6:
112624507-112624507
C
CT
ncRNA_intronic
De novo
-
-
Werling2018
G
MIR2054
11573.p1
chr4:
127880025-127880025
G
GTC
intergenic
Unknown
-
-
Werling2018
G
11420.p1
chr11:
98606632-98606632
T
TC
intergenic
De novo
-
-
Werling2018
G
CARTPT
11376.p1
chr5:
71308862-71308862
A
AT
intergenic
Unknown
-
-
Werling2018
G
SOX2-OT
11432.p1
chr3:
181206955-181206955
T
TA
ncRNA_intronic
Unknown
-
-
Werling2018
G
PLOD2
11432.p1
chr3:
145786239-145786239
A
AT
downstream
Unknown
-
-
Werling2018
G
POLE
11792.p1
chr12:
133207189-133207189
T
TG
intronic
De novo
-
-
Werling2018
G
SFSWAP
11653.p1
chr12:
132288010-132288010
T
TAGAC
intergenic
Unknown
-
-
Werling2018
G
FAM110B
11946.p1
chr8:
58926192-58926193
TG
T
intronic
De novo
-
-
Werling2018
G
FOXJ3
13964.p1
chr1:
42679559-42679559
T
C
intronic
De novo
-
-
Werling2018
G
COL5A1
11855.p1
chr9:
137640148-137640150
CAT
C
intronic
Unknown
-
-
Werling2018
G
TNFRSF11A
11615.p1
chr18:
60160836-60160836
G
GCAC
intergenic
De novo
-
-
Werling2018
G
UBE2I
11597.p1
chr16:
1374937-1374937
C
CGGGTGTGCG
UTR3
De novo
-
-
Werling2018
G
YEATS4
11630.p1
chr12:
69755761-69755764
TTAA
T
intronic
Unknown
-
-
Werling2018
G
CACNA2D3
11625.p1
chr3:
54867617-54867617
G
GA
intronic
De novo
-
-
Werling2018
G
MIR466
12255.p1
chr3:
31265512-31265513
GA
G
intergenic
De novo
-
-
Werling2018
G
CA8
12233.p1
chr8:
61112717-61112717
A
AGGC
intronic
De novo
-
-
Werling2018
G
LOC102723968
12390.p1
chr13:
64884460-64884460
C
CA
intergenic
Unknown
-
-
Werling2018
G
CMTM4
13649.p1
chr16:
66665940-66665940
C
T
intronic
De novo
-
-
Werling2018
G
NNT
12381.p1
chr5:
43676396-43676396
T
TACTC
intronic
De novo
-
-
Werling2018
G
RNMT
12001.p1
chr18:
13770892-13770893
CA
C
intergenic
De novo
-
-
Werling2018
G
LINC01078
11946.p1
chr13:
75822220-75822220
C
CA
ncRNA_intronic
De novo
-
-
Werling2018
G
TBC1D32
12113.p1
chr6:
121628650-121628660
AGAAAAATTTT
A
intronic
De novo
-
-
Werling2018
G
DDIT4
12086.p1
chr10:
74061673-74061673
C
CG
intergenic
De novo
-
-
Werling2018
G
CLASP2
12518.p1
chr3:
33796625-33796625
A
ACAC
intergenic
De novo
-
-
Werling2018
G
MIR4757
12497.p1
chr2:
18885529-18885533
AAGAT
A
intergenic
De novo
-
-
Werling2018
G
FUT8
12572.p1
chr14:
66899549-66899551
ACT
A
intergenic
De novo
-
-
Werling2018
G
LOC101929516
12568.p1
chr1:
40036185-40036188
CATT
C
ncRNA_exonic
De novo
-
-
Werling2018
G
12424.p1
chr4:
174940902-174940906
ACTTT
A
intergenic
De novo
-
-
Werling2018
G
CHURC1-FNTB
12390.p1
chr14:
65525141-65525147
TTTTAAG
T
intronic
De novo
-
-
Werling2018
G
ABHD3
12479.p1
chr18:
19306613-19306615
GAC
G
intergenic
De novo
-
-
Werling2018
G
CADM2
12445.p1
chr3:
85258815-85258815
T
TA
intronic
De novo
-
-
Werling2018
G
13069.p1
chr2:
82847947-82847947
A
AT
intergenic
De novo
-
-
Werling2018
G
TECRL
13063.p1
chr4:
63918042-63918042
A
AT
intergenic
De novo
-
-
Werling2018
G
ZNF354C
13069.p1
chr5:
178512465-178512466
TA
T
intergenic
De novo
-
-
Werling2018
G
ERC2
13069.p1
chr3:
55719630-55719630
A
AG
intronic
De novo
-
-
Werling2018
G
CACNA1D
12733.p1
chr3:
53572860-53572861
AC
A
intronic
De novo
-
-
Werling2018
G
BAZ1A
12664.p1
chr14:
35318746-35318748
AAC
A
intronic
De novo
-
-
Werling2018
G
FZD3
13043.p1
chr8:
28374175-28374175
A
AT
intronic
De novo
-
-
Werling2018
G
ZSWIM2
12778.p1
chr2:
187998481-187998483
TAG
T
intergenic
De novo
-
-
Werling2018
G
DYSF
13171.p1
chr2:
72114182-72114185
ACTT
A
intergenic
De novo
-
-
Werling2018
G
HS3ST3A1
13148.p1
chr17:
13891654-13891654
T
TA
intergenic
De novo
-
-
Werling2018
G
PTPRD
13300.p1
chr9:
8318911-8318915
CAGAT
C
intronic
De novo
-
-
Werling2018
G
SETD7
13191.p1
chr4:
140558572-140558572
C
CAAA
intergenic
De novo
-
-
Werling2018
G
CNTN3
13076.p1
chr3:
73873772-73873776
CAAAT
C
intergenic
De novo
-
-
Werling2018
G
ENO4
13069.p1
chr10:
118639704-118639710
CCTTTTT
C
intronic
De novo
-
-
Werling2018
G
LOC100133091
13116.p1
chr7:
76461487-76461488
AG
A
intergenic
De novo
-
-
Werling2018
G
LOC100129138
13083.p1
chr1:
105963774-105963774
G
GT
intergenic
Unknown
-
-
Werling2018
G
POU3F2
13515.p1
chr6:
99304020-99304020
A
AC
intergenic
De novo
-
-
Werling2018
G
OR51E2
13486.p1
chr11:
4745349-4745350
TG
T
intergenic
De novo
-
-
Werling2018
G
PTPRJ
13542.p1
chr11:
48217158-48217159
TA
T
intergenic
De novo
-
-
Werling2018
G
NSUN3
13529.p1
chr3:
94211376-94211376
G
GT
intergenic
De novo
-
-
Werling2018
G
LINC01541
13314.p1
chr18:
69305413-69305416
TACA
T
intergenic
De novo
-
-
Werling2018
G
NF1
13314.p1
chr17:
29460697-29460699
CAG
C
intronic
De novo
-
-
Werling2018
G
DNAH9
13444.p1
chr17:
11526716-11526717
TG
T
intronic
Unknown
-
-
Werling2018
G
ZFAND6
13383.p1
chr15:
80376832-80376832
T
TGGGA
intronic
De novo
-
-
Werling2018
G
LOC101928622
13901.p1
chr4:
34849168-34849169
GA
G
intergenic
De novo
-
-
Werling2018
G
FERD3L
13808.p1
chr7:
19344909-19344909
C
CG
intergenic
De novo
-
-
Werling2018
G
MIR4318
14028.p1
chr18:
36164212-36164216
TAATC
T
intergenic
De novo
-
-
Werling2018
G
RNLS
13945.p1
chr10:
90133431-90133434
CTGG
C
intronic
De novo
-
-
Werling2018
G
COMMD10
13568.p1
chr5:
115517213-115517213
A
AT
intronic
De novo
-
-
Werling2018
G
MRVI1
13557.p1
chr11:
10724027-10724027
C
CTCAA
intergenic
De novo
-
-
Werling2018
G
OPCML
13692.p1
chr11:
133246735-133246737
CTT
C
intronic
De novo
-
-
Werling2018
G
HLF
13684.p1
chr17:
53404329-53404330
TG
T
intergenic
De novo
-
-
Werling2018
G
CLSPN
14228.p1
chr1:
36228527-36228527
G
GT
intronic
De novo
-
-
Werling2018
G
ZNF43
14207.p1
chr19:
22017252-22017255
ATAT
A
intronic
De novo
-
-
Werling2018
G
LEPR
14339.p1
chr1:
65909123-65909123
A
AAT
intronic
Unknown
-
-
Werling2018
G
SERPINF2
12680.p1
chr17:
1656113-1656113
G
A
intronic
De novo
-
6.614E-5
Werling2018
G
ADARB1
14321.p1
chr21:
46570567-46570567
T
TA
intronic
De novo
-
-
Werling2018
G
LRP12
14151.p1
chr8:
106172829-106172829
T
TTG
intergenic
De novo
-
-
Werling2018
G
LINC01069
14061.p1
chr13:
78560819-78560819
A
AG
ncRNA_intronic
De novo
-
-
Werling2018
G
C3orf38
14154.p1
chr3:
88482613-88482613
G
GT
intergenic
Unknown
-
-
Werling2018
G
CNKSR3
14153.p1
chr6:
154734240-154734244
GAAGA
G
intronic
De novo
-
-
Werling2018
G
COX4I1
14545.p1
chr16:
85883958-85883958
A
AT
intergenic
Unknown
-
-
Werling2018
G
IARS2
14495.p1
chr1:
220319748-220319748
T
TGCTGGGGAG
intronic
De novo
-
-
Werling2018
G
SLC35F1
14590.p1
chr6:
118354725-118354725
A
AAAC
intronic
De novo
-
-
Werling2018
G
ADAMTS12
14547.p1
chr5:
33921599-33921602
TACA
T
intergenic
De novo
-
-
Werling2018
G
RGMA
14460.p1
chr15:
94053899-94053899
G
GT
intergenic
De novo
-
-
Werling2018
G
14370.p1
chr4:
133058144-133058144
G
GA
intergenic
De novo
-
-
Werling2018
G
COL14A1
14465.p1
chr8:
121293862-121293862
A
AG
intronic
De novo
-
-
Werling2018
G
ICOS
14465.p1
chr2:
205212143-205212143
C
CT
intergenic
De novo
-
-
Werling2018
G
TAF12
11109.p1
chr1:
28965613-28965613
A
T
intronic
De novo
-
-
Werling2018
G
BICC1
11099.p1
chr10:
60362806-60362806
C
G
intronic
De novo
-
-
Werling2018
G
FAM13A
11115.p1
chr4:
89695367-89695367
C
A
intronic
De novo
-
-
Werling2018
G
GLYCTK
11115.p1
chr3:
52336130-52336130
G
C
intergenic
De novo
-
-
Werling2018
G
CSMD1
11006.p1
chr8:
4612335-4612335
C
T
intronic
De novo
-
-
Werling2018
G
NRXN1
12060.p1
chr2:
51259257-51259258
CG
C
UTR5
De novo
-
-
Werling2018
G
ZPBP
11010.p1
chr7:
50018317-50018317
C
T
intronic
De novo
-
-
Werling2018
G
CTNND2
11010.p1
chr5:
12038021-12038021
G
A
intergenic
De novo
-
-
Werling2018
G
HCRTR2
11265.p1
chr6:
55150436-55150436
C
T
intergenic
De novo
-
-
Werling2018
G
LINC01425
11258.p1
chr21:
23191786-23191786
A
G
intergenic
De novo
-
-
Werling2018
G
CHST9
11285.p1
chr18:
25514348-25514348
A
G
intergenic
De novo
-
-
Werling2018
G
C3orf58
11285.p1
chr3:
145590998-145590998
C
T
intergenic
De novo
-
-
Werling2018
G
11181.p1
chr14:
44584010-44584010
G
C
intergenic
De novo
-
-
Werling2018
G
EIF2B3
11142.p1
chr1:
45366709-45366709
T
C
intronic
De novo
-
-
Werling2018
G
RSBN1
11257.p1
chr1:
114316019-114316019
G
A
intronic
De novo
-
-
Werling2018
G
LOC101927967
11219.p1
chr2:
79164893-79164893
G
T
intergenic
De novo
-
-
Werling2018
G
NWD2
11390.p1
chr4:
37344184-37344184
A
C
intronic
De novo
-
-
Werling2018
G
MIR548XHG
11378.p1
chr21:
21511218-21511218
A
G
intergenic
De novo
-
-
Werling2018
G
CD6
11420.p1
chr11:
60851085-60851085
G
A
intergenic
De novo
-
-
Werling2018
G
BTBD11
11398.p1
chr12:
107728290-107728290
G
A
intronic
De novo
-
-
Werling2018
G
SAMD5
11348.p1
chr6:
148347885-148347885
T
G
intergenic
De novo
-
-
Werling2018
G
LCORL
11336.p1
chr4:
18421033-18421033
C
T
intergenic
De novo
-
-
Werling2018
G
R3HDM1
11378.p1
chr2:
136328793-136328793
T
G
intronic
De novo
-
-
Werling2018
G
MYLIP
11376.p1
chr6:
16165782-16165782
G
A
intergenic
Unknown
-
-
Werling2018
G
SEMA5A
11556.p1
chr5:
9274183-9274183
C
T
intronic
De novo
-
-
Werling2018
G
11554.p1
chr1:
81943681-81943681
G
T
intergenic
De novo
-
-
Werling2018
G
KNDC1
11587.p1
chr10:
135039876-135039876
C
T
UTR3
Unknown
-
-
Werling2018
G
POU6F2
11565.p1
chr7:
39472990-39472990
G
C
intronic
De novo
-
-
Werling2018
G
SOX5
11508.p1
chr12:
23879549-23879549
C
T
intronic
De novo
-
-
Werling2018
G
AZIN1-AS1
11440.p1
chr8:
103972716-103972716
A
G
ncRNA_intronic
De novo
-
-
Werling2018
G
SNAP25
11542.p1
chr20:
10201369-10201369
G
A
intronic
De novo
-
-
Werling2018
G
TCF7L2
11520.p1
chr10:
115087888-115087888
C
A
intergenic
De novo
-
-
Werling2018
G
IQSEC1
11679.p1
chr3:
13090241-13090241
G
A
intronic
Unknown
-
-
Werling2018
G
ENAH
11641.p1
chr1:
225685988-225685988
T
C
intronic
De novo
-
-
Werling2018
G
TCP10
11736.p1
chr6:
167874299-167874299
C
T
intergenic
De novo
-
-
Werling2018
G
PDCD6IP
11456.p1
chr3:
34321660-34321660
C
T
intergenic
De novo
-
-
Werling2018
G
PLXNA4
11726.p1
chr7:
132094142-132094142
C
G
intronic
De novo
-
-
Werling2018
G
GJA1
11615.p1
chr6:
122222146-122222146
C
T
intergenic
Unknown
-
-
Werling2018
G
SLC16A10
11615.p1
chr6:
111494786-111494786
C
T
intronic
De novo
-
-
Werling2018
G
INPP4B
11630.p1
chr4:
144007831-144007831
G
A
intergenic
De novo
-
-
Werling2018
G
POM121L1P
11625.p1
chr22:
22947173-22947173
C
A
intergenic
De novo
-
-
Werling2018
G
LINC01072
11839.p1
chr13:
20696951-20696951
T
G
intergenic
De novo
-
-
Werling2018
G
TRIM24
11827.p1
chr7:
138263420-138263420
A
G
intronic
De novo
-
-
Werling2018
G
B3GLCT
11857.p1
chr13:
32170706-32170706
C
G
intergenic
De novo
-
-
Werling2018
G
ATG10
11855.p1
chr5:
81425780-81425780
A
C
intronic
Unknown
-
-
Werling2018
G
DMRT2
11792.p1
chr9:
1689975-1689975
G
A
intergenic
De novo
-
-
Werling2018
G
TMEM144
11792.p1
chr4:
159320048-159320048
C
A
intergenic
De novo
-
-
Werling2018
G
SEMG2
11818.p1
chr20:
43859486-43859486
G
A
intergenic
De novo
-
-
Werling2018
G
LIPG
11818.p1
chr18:
47047974-47047974
G
A
intergenic
De novo
-
-
Werling2018
G
SNHG5
11888.p1
chr6:
86716321-86716321
G
A
intergenic
De novo
-
-
Werling2018
G
11869.p1
chr16:
14474784-14474784
T
C
intergenic
De novo
-
-
Werling2018
G
KIF1B
11946.p1
chr1:
10311172-10311172
C
T
intronic
De novo
-
-
Werling2018
G
GCFC2
11939.p1
chr2:
75904421-75904421
T
C
intronic
Unknown
-
-
Werling2018
G
C9orf72
11868.p1
chr9:
27699626-27699626
C
A
intergenic
De novo
-
-
Werling2018
G
LINC00375
11857.p1
chr13:
85776518-85776518
T
C
intergenic
De novo
-
-
Werling2018
G
ZNF697
14590.p1
chr1:
120241440-120241440
G
T
intergenic
De novo
-
-
Werling2018
G
MCU
11869.p1
chr10:
74505955-74505955
A
G
intronic
De novo
-
-
Werling2018
G
RRAGD
11869.p1
chr6:
90083229-90083229
C
T
intronic
De novo
-
-
Werling2018
G
LECT2
12061.p1
chr5:
135357767-135357767
C
T
intergenic
De novo
-
-
Werling2018
G
ATG10
12061.p1
chr5:
81294272-81294272
G
C
intronic
De novo
-
-
Werling2018
G
VAT1L
12113.p1
chr16:
78044486-78044486
T
G
intergenic
De novo
-
-
Werling2018
G
MED13
12091.p1
chr17:
60057115-60057115
C
T
intronic
De novo
-
-
Werling2018
G
FAT3
11990.p1
chr11:
92355213-92355213
C
G
intronic
De novo
-
-
Werling2018
G
LPP
11954.p1
chr3:
188200887-188200887
T
A
intronic
De novo
-
-
Werling2018
G
NLGN1
12061.p1
chr3:
174462029-174462029
G
A
intergenic
De novo
-
-
Werling2018
G
DDX10
11990.p1
chr11:
109252958-109252958
T
A
intergenic
De novo
-
-
Werling2018
G
GLIS3
12377.p1
chr9:
4148382-4148382
T
C
intronic
De novo
-
-
Werling2018
G
NTM
12321.p1
chr11:
131373318-131373318
G
A
intronic
De novo
-
-
Werling2018
G
GRM5
12407.p1
chr11:
88653180-88653180
C
T
intronic
Unknown
-
-
Werling2018
G
LOC100422212
12407.p1
chr1:
163796319-163796319
G
A
intergenic
De novo
-
-
Werling2018
G
LCORL
12185.p1
chr4:
18310822-18310822
C
T
intergenic
De novo
-
-
Werling2018
G
GAS6-AS2
12115.p1
chr13:
114568347-114568347
C
T
ncRNA_exonic
De novo
-
-
Werling2018
G
CCNH
12303.p1
chr5:
87332697-87332697
C
T
intergenic
De novo
-
-
Werling2018
G
JAK2
12290.p1
chr9:
5110989-5110989
C
T
intronic
De novo
-
-
Werling2018
G
PLSCR4
12449.p1
chr3:
146127126-146127126
G
C
intergenic
De novo
-
-
Werling2018
G
ZNF618
12445.p1
chr9:
116711060-116711060
A
G
intronic
De novo
-
-
Werling2018
G
12481.p1
chr5:
125523600-125523600
G
A
ncRNA_intronic
De novo
-
-
Werling2018
G
NAALADL2
12460.p1
chr3:
175033923-175033923
A
C
intronic
De novo
-
-
Werling2018
G
DAB1
12430.p1
chr1:
57839519-57839519
A
G
intronic
De novo
-
-
Werling2018
G
NTNG1
12412.p1
chr1:
107693895-107693895
A
G
intronic
De novo
-
-
Werling2018
G
FAM13C
12440.p1
chr10:
61244989-61244989
A
G
intergenic
De novo
-
-
Werling2018
G
LINC01994
12430.p1
chr3:
182490874-182490874
A
G
intergenic
De novo
-
-
Werling2018
G
NARS2
12572.p1
chr11:
78211966-78211966
C
T
intronic
De novo
-
-
Werling2018
G
CLRN1
12572.p1
chr3:
150678467-150678467
T
C
intronic
De novo
-
-
Werling2018
G
STON2
12605.p1
chr14:
81766884-81766884
C
T
intronic
De novo
-
-
Werling2018
G
GLI3
12605.p1
chr7:
42112333-42112333
C
T
intronic
De novo
-
-
Werling2018
G
LTN1
12497.p1
chr21:
30301370-30301370
T
C
UTR3
De novo
-
-
Werling2018
G
LINC02113
12492.p1
chr5:
98879232-98879232
A
G
ncRNA_intronic
Unknown
-
-
Werling2018
G
AFAP1L2
12529.p1
chr10:
116080534-116080534
G
A
intronic
De novo
-
-
Werling2018
G
LINC01173
12529.p1
chr2:
235692986-235692986
G
T
intergenic
De novo
-
-
Werling2018
G
SLC38A6
12651.p1
chr14:
61460044-61460044
A
G
intronic
De novo
-
-
Werling2018
G
NEGR1
12651.p1
chr1:
73542237-73542237
A
G
intergenic
De novo
-
-
Werling2018
G
TREM2
12706.p1
chr6:
41142880-41142880
T
C
intergenic
Unknown
-
-
Werling2018
G
YIF1B
12689.p1
chr19:
38808067-38808067
C
T
intergenic
De novo
-
-
Werling2018
G
MTRNR2L1
12605.p1
chr17:
22112776-22112776
G
C
intergenic
De novo
-
-
Werling2018
G
12605.p1
chr14:
84157186-84157186
A
C
intergenic
De novo
-
-
Werling2018
G
C8orf48
12636.p1
chr8:
13817790-13817790
G
C
intergenic
De novo
-
-
Werling2018
G
GALNTL6
12628.p1
chr4:
173380115-173380115
A
G
intronic
De novo
-
-
Werling2018
G
12778.p1
chr6:
69204117-69204117
C
T
intergenic
De novo
-
-
Werling2018
G
SOCS7
12738.p1
chr17:
36511483-36511483
C
T
intronic
De novo
-
-
Werling2018
G
GRK5
12798.p1
chr10:
121234176-121234176
C
G
intergenic
De novo
-
-
Werling2018
G
MBD2
12786.p1
chr18:
51703894-51703894
T
A
intronic
De novo
-
-
Werling2018
G
FAM171B
12738.p1
chr2:
187558260-187558260
T
C
upstream
De novo
-
-
Werling2018
G
ELMO1
12731.p1
chr7:
37442008-37442008
G
A
intronic
De novo
-
-
Werling2018
G
CCSER1
12738.p1
chr4:
91538812-91538812
G
T
intronic
De novo
-
-
Werling2018
G
PTPRG
12738.p1
chr3:
61747795-61747795
T
C
intronic
De novo
-
-
Werling2018
G
EDC3
12875.p1
chr15:
74931393-74931393
G
T
intronic
De novo
-
-
Werling2018
G
NCAM2
12857.p1
chr21:
22580670-22580670
A
T
intronic
De novo
-
-
Werling2018
G
LINC00494
12891.p1
chr20:
47150740-47150740
A
G
intergenic
De novo
-
-
Werling2018
G
ADCYAP1
12879.p1
chr18:
1016128-1016128
C
T
intergenic
Unknown
-
-
Werling2018
G
EBF1
12834.p1
chr5:
158415421-158415421
A
T
intronic
Unknown
-
-
Werling2018
G
MACROD1
12804.p1
chr11:
63793746-63793746
C
T
intronic
Unknown
-
-
Werling2018
G
OR9A2
12857.p1
chr7:
142722352-142722352
C
T
downstream
De novo
-
-
Werling2018
G
GABRA6
12857.p1
chr5:
161112304-161112304
A
T
upstream
Unknown
-
-
Werling2018
G
OR2T10
13080.p1
chr1:
248762360-248762360
G
A
intergenic
Unknown
-
-
Werling2018
G
SP100
13076.p1
chr2:
231478278-231478278
G
A
intergenic
De novo
-
-
Werling2018
G
ONECUT1
13159.p1
chr15:
53552586-53552586
T
C
intergenic
De novo
-
-
Werling2018
G
LOC102467222
13116.p1
chr8:
20443559-20443559
T
C
intergenic
De novo
-
-
Werling2018
G
DENND1A
13066.p1
chr9:
126458061-126458061
G
A
intronic
De novo
-
-
Werling2018
G
PDE4D
13026.p1
chr5:
59736662-59736662
C
T
intronic
De novo
-
-
Werling2018
G
RBMS3
13069.p1
chr3:
30139030-30139030
A
G
intergenic
De novo
-
-
Werling2018
G
OPA3
13066.p1
chr19:
46044827-46044827
G
T
intronic
De novo
-
-
Werling2018
G
CDK13
13309.p1
chr7:
40085808-40085808
C
G
intronic
De novo
-
-
Werling2018
G
LOC339593
13300.p1
chr20:
11503165-11503165
A
G
intergenic
De novo
-
-
Werling2018
G
SEC24D
13358.p1
chr4:
119668258-119668258
A
G
intronic
De novo
-
-
Werling2018
G
PTEN
13314.p1
chr10:
89839953-89839953
A
G
intergenic
De novo
-
-
Werling2018
G
LINC00364
13191.p1
chr13:
68262045-68262045
G
A
intergenic
De novo
-
-
Werling2018
G
13171.p1
chr4:
65867328-65867328
C
T
ncRNA_intronic
De novo
-
-
Werling2018
G
MAPKBP1
13239.p1
chr15:
42100218-42100218
T
C
intronic
De novo
-
-
Werling2018
G
LINC00963
13218.p1
chr9:
132272363-132272363
G
A
ncRNA_intronic
Unknown
-
-
Werling2018
G
USP13
13462.p1
chr3:
179477821-179477821
C
G
intronic
Unknown
-
-
Werling2018
G
TSPAN12
13409.p1
chr7:
120509455-120509455
G
T
intergenic
De novo
-
-
Werling2018
G
LOC100422212
13508.p1
chr1:
164021579-164021579
A
G
intergenic
De novo
-
-
Werling2018
G
UBE2MP1
13502.p1
chr16:
34476339-34476339
A
C
intergenic
De novo
-
-
Werling2018
G
MECOM
13403.p1
chr3:
169025065-169025065
C
T
intronic
De novo
-
-
Werling2018
G
LOC101928516
13358.p1
chr6:
75384884-75384884
C
T
ncRNA_intronic
De novo
-
-
Werling2018
G
IRX3
13403.p1
chr16:
54771075-54771075
C
T
intergenic
Unknown
-
-
Werling2018
G
EZH2
13874.p1
chr7:
148607094-148607094
G
A
intergenic
De novo
-
-
Werling2018
G
RFPL4B
13403.p1
chr6:
113164741-113164741
G
A
intergenic
De novo
-
-
Werling2018
G
AOC1
13069.p1
chr7:
150640803-150640803
G
A
intergenic
De novo
-
-
Werling2018
G
ADGRL4
13609.p1
chr1:
80384890-80384890
G
C
intergenic
De novo
-
-
Werling2018
G
CNTNAP5
13604.p1
chr2:
127087750-127087750
G
A
intergenic
De novo
-
-
Werling2018
G
LOC101927043
13649.p1
chr2:
47546253-47546253
C
T
ncRNA_intronic
De novo
-
-
Werling2018
G
NCKAP5
13629.p1
chr2:
134259497-134259497
T
A
intronic
De novo
-
-
Werling2018
G
DPP10
13542.p1
chr2:
118250328-118250328
A
G
intergenic
De novo
-
-
Werling2018
G
OSR1
13532.p1
chr2:
19605814-19605814
A
G
intergenic
De novo
-
-
Werling2018
G
BRD1
13577.p1
chr22:
50170516-50170516
C
T
intronic
Unknown
-
-
Werling2018
G
QKI
13542.p1
chr6:
164073404-164073404
C
G
intergenic
De novo
-
-
Werling2018
G
MIR8068
13738.p1
chr11:
29423649-29423649
G
A
intergenic
De novo
-
-
Werling2018
G
YY1P2
13732.p1
chr2:
140912252-140912252
G
A
intergenic
De novo
-
-
Werling2018
G
C16orf45
13748.p1
chr16:
15574307-15574307
C
T
intronic
De novo
-
-
Werling2018
G
SDC2
13748.p1
chr8:
97632484-97632484
C
T
intergenic
De novo
-
-
Werling2018
G
CASP7
13687.p1
chr10:
115500965-115500965
G
A
intergenic
De novo
-
-
Werling2018
G
IGFBP3
13651.p1
chr7:
47089316-47089316
C
G
intergenic
De novo
-
-
Werling2018
G
Source Variant Information
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, -
Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
View
More