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Results for "Satterstrom2020"

Variant Events: 12160

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
POC1B     14444.p1chr12:
89918931-89918931
GAexonicDe novononsynonymous SNVNM_001199782c.C326Tp.P109L16.54-Satterstrom2020 E
SCN2A     14525.p1chr2:
166152367-166152367
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G34A
c.G34A
c.G34A
p.D12N
p.D12N
p.D12N
13.34-Satterstrom2020 E
SCN2A     ASDFI_732chr2:
166152578-166152578
AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.A245G
c.A245G
c.A245G
p.D82G
p.D82G
p.D82G
19.73-Satterstrom2020 E
SCN2A     AU026Achr2:
166170231-166170231
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Satterstrom2020 E
SCN2A     DEASD_0143_001chr2:
166170231-166170231
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G1136A
c.G1136A
c.G1136A
p.R379H
p.R379H
p.R379H
35.0-Satterstrom2020 E
SCN2A     10C109819chr2:
166183403-166183403
TTAexonicDe novoframeshift insertionNM_001040143
NM_001040142
NM_021007
c.2058_2059insA
c.2058_2059insA
c.2058_2059insA
p.S686fs
p.S686fs
p.S686fs
--Satterstrom2020 E
GALNTL5     13556.p1chr7:
151684364-151684364
CTexonicDe novononsynonymous SNVNM_145292c.C656Tp.S219L17.61-Satterstrom2020 E
SCN2A     14280.p1chr2:
166201311-166201311
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C2809T
c.C2809T
c.C2809T
p.R937C
p.R937C
p.R937C
29.0-Satterstrom2020 E
SCN2A     NDAR_INVTZ957VTW_wes1chr2:
166201312-166201312
GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.G2810A
c.G2810A
c.G2810A
p.R937H
p.R937H
p.R937H
33.0-Satterstrom2020 E
SCN2A     11892.p1chr2:
166201379-166201379
CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.C2877A
c.C2877A
c.C2877A
p.C959X
p.C959X
p.C959X
42.0-Satterstrom2020 E
SCN2A     11114.p1chr2:
166210819-166210819
GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007
c.G3037T
c.G3037T
c.G3037T
p.G1013X
p.G1013X
p.G1013X
40.0-Satterstrom2020 E
AMIGO2     14017.p1chr12:
47472267-47472267
ACexonicDe novononsynonymous SNVNM_181847
NM_001143668
c.T519G
c.T519G
p.S173R
p.S173R
16.82-Satterstrom2020 E
SCN2A     13544.p1chr2:
166231378-166231378
TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.T4156C
c.T4156C
c.T4156C
p.C1386R
p.C1386R
p.C1386R
15.44-Satterstrom2020 E
SCN2A     13642.p1chr2:
166234111-166234111
CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007
c.C4259T
c.C4259T
c.C4259T
p.T1420M
p.T1420M
p.T1420M
28.0-Satterstrom2020 E
SCN2A     DEASD_0262_001chr2:
166245137-166245137
ATsplicingDe novosplicing12.35-Satterstrom2020 E
PEG10     13604.p1chr7:
94293229-94293229
GAexonicDe novononsynonymous SNVNM_001040152
NM_001172438
NM_001184962
c.G361A
c.G589A
c.G463A
p.V121M
p.V197M
p.V155M
15.64-Satterstrom2020 E
LYSMD4     12820.p1chr15:
100272044-100272044
TCexonicDe novononsynonymous SNVNM_001284417
NM_001284418
NM_001284419
NM_152449
c.A161G
c.A161G
c.A73G
c.A73G
p.E54G
p.E54G
p.S25G
p.S25G
17.83-Satterstrom2020 E
PEX11B     13336.p1chr1:
145517271-145517271
AGsplicingDe novosplicing19.0-Satterstrom2020 E
GCGR     13309.p1chr17:
79768754-79768754
GAexonicDe novononsynonymous SNVNM_000160c.G217Ap.A73T11.16-Satterstrom2020 E
CPSF3     13311.p1chr2:
9588447-9588447
ACexonicDe novononsynonymous SNVNM_016207c.A1363Cp.T455P16.67-Satterstrom2020 E
NOC2L     AC01-0062-01chr1:
881802-881802
CTexonicDe novononsynonymous SNVNM_015658c.G1783Ap.V595I16.591.66E-5Satterstrom2020 E
KLHL17     09C87513chr1:
897739-897739
TCexonicDe novononsynonymous SNVNM_198317c.T716Cp.L239P15.16-Satterstrom2020 E
ATAD3B     UK10K_SKUSE5080252chr1:
1423250-1423250
CTexonicDe novononsynonymous SNVNM_001317238
NM_031921
c.C1084T
c.C1222T
p.L362F
p.L408F
13.49-Satterstrom2020 E
TMEM52     DEASD_0145_001chr1:
1849510-1849510
GCexonicDe novononsynonymous SNVNM_178545c.C441Gp.S147R10.77-Satterstrom2020 E
SKI     08C78919chr1:
2234766-2234766
CTexonicDe novostopgainNM_003036c.C1138Tp.R380X37.0-Satterstrom2020 E
CHD5     DEASD_0125_001chr1:
6191718-6191718
GAexonicDe novononsynonymous SNVNM_015557c.C3235Tp.R1079W15.44-Satterstrom2020 E
ACOT7     DEASD_0088_001chr1:
6420658-6420658
TCexonicDe novononsynonymous SNVNM_181865c.A55Gp.R19G5.9838.242E-6Satterstrom2020 E
ZBTB48     AU117Achr1:
6642301-6642301
GAexonicDe novononsynonymous SNVNM_001278647
NM_001278648
NM_005341
c.G874A
c.G874A
c.G874A
p.E292K
p.E292K
p.E292K
21.58.246E-6Satterstrom2020 E
RERE     AU113Achr1:
8418823-8418823
CTexonicDe novononsynonymous SNVNM_001042682
NM_001042681
NM_012102
c.G2110A
c.G3772A
c.G3772A
p.E704K
p.E1258K
p.E1258K
35.0-Satterstrom2020 E
VPS13D     DEASD_0068_001chr1:
12336770-12336770
CTexonicDe novononsynonymous SNVNM_015378
NM_018156
c.C3125T
c.C3125T
p.S1042F
p.S1042F
18.67-Satterstrom2020 E
AADACL4     09C95914chr1:
12726725-12726725
CGexonicDe novosynonymous SNVNM_001013630c.C1203Gp.V401V--Satterstrom2020 E
KAZN     NDAR_INVAR462JT4_wes1chr1:
15430600-15430600
GAexonicDe novononsynonymous SNVNM_201628c.G1963Ap.A655T35.0-Satterstrom2020 E
TMEM51     DEASD_0148_001chr1:
15545879-15545879
CTexonicDe novosynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.C402T
c.C402T
c.C402T
c.C402T
p.Y134Y
p.Y134Y
p.Y134Y
p.Y134Y
-8.396E-6Satterstrom2020 E
FBLIM1     DEASD_0241_001chr1:
16096936-16096936
CTexonicDe novononsynonymous SNVNM_001024216
NM_001024215
NM_017556
c.C283T
c.C574T
c.C574T
p.P95S
p.P192S
p.P192S
19.898.258E-6Satterstrom2020 E
SPEN     AU226Achr1:
16235920-16235920
ACexonicDe novononsynonymous SNVNM_015001c.A986Cp.D329A17.83-Satterstrom2020 E
CROCC     NDAR_INVPC670BF4_wes1chr1:
17250836-17250836
AGexonicDe novosynonymous SNVNM_014675c.A213Gp.T71T-0.3367Satterstrom2020 E
PADI1     NDAR_INVNB971TGY_wes1chr1:
17531782-17531782
GAexonicDe novononsynonymous SNVNM_013358c.G70Ap.E24K10.173.0E-4Satterstrom2020 E
PADI3     NDAR_INVEB022VLQ_wes1chr1:
17596738-17596738
TGexonicDe novononsynonymous SNVNM_016233c.T663Gp.D221E9.1290.0022Satterstrom2020 E
UBXN10     DEASD_0044_001chr1:
20517220-20517220
GAexonicDe novononsynonymous SNVNM_152376c.G166Ap.V56M4.4182.491E-5Satterstrom2020 E
RAP1GAP     DEASD_0277_001chr1:
21929359-21929359
CTexonicDe novosynonymous SNVNM_001145658
NM_002885
NM_001145657
c.G1668A
c.G1476A
c.G1554A
p.P556P
p.P492P
p.P518P
--Satterstrom2020 E
HSPG2     NDAR_INVWK012EYC_wes1chr1:
22174444-22174444
CTintronicDe novo8.56-Satterstrom2020 E
EPHB2     DEASD_0337_001chr1:
23233357-23233357
CTexonicDe novosynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449
c.C1869T
c.C2043T
c.C2046T
c.C2043T
p.N623N
p.N681N
p.N682N
p.N681N
-8.248E-6Satterstrom2020 E
HNRNPR     AU026Achr1:
23637156-23637156
GAexonicDe novononsynonymous SNVNM_001297621
NM_001297622
NM_001102397
NM_001102399
NM_001297620
NM_001102398
NM_005826
c.C1213T
c.C1276T
c.C1390T
c.C1399T
c.C1579T
c.C1702T
c.C1693T
p.R405C
p.R426C
p.R464C
p.R467C
p.R527C
p.R568C
p.R565C
11.788.251E-6Satterstrom2020 E
IFNLR1     DEASD_0278_001chr1:
24507257-24507257
TCexonicDe novononsynonymous SNVNM_170743
NM_173064
NM_173065
c.A146G
c.A146G
c.A146G
p.N49S
p.N49S
p.N49S
9.058-Satterstrom2020 E
PDIK1L     NDAR_INVZT109BL0_wes1chr1:
26449034-26449034
AGexonicDe novononsynonymous SNVNM_001243532
NM_152835
NM_001243533
c.A992G
c.A992G
c.A992G
p.Q331R
p.Q331R
p.Q331R
12.59-Satterstrom2020 E
ARID1A     NDAR_INVEG601VP6_wes1chr1:
27088806-27088806
ATexonicDe novosynonymous SNVNM_006015
NM_139135
c.A2415T
c.A2415T
p.P805P
p.P805P
--Satterstrom2020 E
EPB41     DEASD_0198_001chr1:
29379632-29379632
GAexonicDe novosynonymous SNVNM_203343
NM_001166005
NM_001166006
NM_001166007
NM_004437
NM_203342
c.G1548A
c.G1653A
c.G1653A
c.G1026A
c.G1026A
c.G1026A
p.S516S
p.S551S
p.S551S
p.S342S
p.S342S
p.S342S
-8.328E-6Satterstrom2020 E
SDC3     NDAR_INVLT014TFN_wes1chr1:
31346198-31346198
CTexonicDe novononsynonymous SNVNM_014654c.G1189Ap.A397T33.01.0E-4Satterstrom2020 E
PUM1     09C85235chr1:
31437728-31437728
GAexonicDe novononsynonymous SNVNM_001020658
NM_014676
c.C2116T
c.C2116T
p.R706C
p.R706C
19.32-Satterstrom2020 E
SNRNP40     DEASD_0296_001chr1:
31754296-31754296
CAexonicDe novosynonymous SNVNM_004814c.G579Tp.T193T-1.652E-5Satterstrom2020 E
SERINC2     09C79813chr1:
31905923-31905923
CGexonicDe novononsynonymous SNVNM_001199037
NM_018565
NM_178865
NM_001199038
NM_001199039
c.C1135G
c.C1135G
c.C1123G
c.C1150G
c.C958G
p.R379G
p.R379G
p.R375G
p.R384G
p.R320G
16.56-Satterstrom2020 E
PTP4A2     NDAR_INVNX928JZW_wes1chr1:
32374546-32374546
CTexonicDe novosynonymous SNVNM_001195100
NM_001195101
NM_080391
c.G336A
c.G318A
c.G411A
p.A112A
p.A106A
p.A137A
15.112.476E-5Satterstrom2020 E
TMEM39B     UK10K_SKUSE5080230chr1:
32557520-32557520
AGexonicDe novononsynonymous SNVNM_018056c.A835Gp.K279E35.0-Satterstrom2020 E
KIAA1522     DEASD_0340_001chr1:
33236926-33236926
CGexonicDe novononsynonymous SNVNM_001198972
NM_020888
c.C1969G
c.C2146G
p.P657A
p.P716A
0.959-Satterstrom2020 E
NCDN     10C110016chr1:
36026645-36026645
CTexonicDe novononsynonymous SNVNM_001014841
NM_014284
NM_001014839
c.C842T
c.C893T
c.C893T
p.P281L
p.P298L
p.P298L
0.9-Satterstrom2020 E
AGO4     09C85478chr1:
36282630-36282630
GTexonicDe novononsynonymous SNVNM_017629c.G167Tp.R56L17.66-Satterstrom2020 E
AGO4     AU172Achr1:
36306838-36306838
GTexonicDe novononsynonymous SNVNM_017629c.G1797Tp.K599N18.19-Satterstrom2020 E
AGO3     NDAR_INVRN099AG1_wes1chr1:
36474610-36474610
GAexonicDe novononsynonymous SNVNM_177422
NM_024852
c.G292A
c.G994A
p.G98R
p.G332R
34.0-Satterstrom2020 E
CCDC24     ASDFI_1628chr1:
44458012-44458012
CTexonicDe novosynonymous SNVNM_152499c.C255Tp.L85L--Satterstrom2020 E
KLF17     NDAR_INVZW891AN2_wes1chr1:
44595425-44595425
CGexonicDe novononsynonymous SNVNM_173484c.C482Gp.S161W14.27-Satterstrom2020 E
DMAP1     AU11304chr1:
44680521-44680521
GAexonicDe novononsynonymous SNVNM_019100
NM_001034023
NM_001034024
c.G344A
c.G344A
c.G344A
p.R115Q
p.R115Q
p.R115Q
35.0-Satterstrom2020 E
MAST2     DEASD_0048_001chr1:
46500523-46500523
GAexonicDe novosynonymous SNVNM_015112c.G4182Ap.A1394A-1.661E-5Satterstrom2020 E
MAST2     DEASD_0426_001chr1:
46501219-46501219
AGexonicDe novosynonymous SNVNM_015112c.A4878Gp.A1626A--Satterstrom2020 E
DMBX1     DEASD_0072_001chr1:
46977822-46977822
CAexonicDe novononsynonymous SNVNM_147192
NM_172225
c.C805A
c.C790A
p.Q269K
p.Q264K
23.3-Satterstrom2020 E
TTC39A     DEASD_0407_001chr1:
51771704-51771704
TCexonicDe novononsynonymous SNVNM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665
c.A536G
c.A545G
c.A638G
c.A533G
c.A452G
c.A641G
p.E179G
p.E182G
p.E213G
p.E178G
p.E151G
p.E214G
9.726-Satterstrom2020 E
OSBPL9     DEASD_0084_001chr1:
52253139-52253139
GCexonicDe novononsynonymous SNVNM_148905
NM_148904
NM_148907
NM_148906
NM_148908
NM_024586
NM_148909
c.G1581C
c.G1581C
c.G1785C
c.G2064C
c.G2076C
c.G2115C
c.G2145C
p.K527N
p.K527N
p.K595N
p.K688N
p.K692N
p.K705N
p.K715N
8.374-Satterstrom2020 E
ACOT11     NDAR_INVLT014TFN_wes1chr1:
55060359-55060359
AGexonicDe novononsynonymous SNVNM_015547
NM_147161
c.A602G
c.A602G
p.Q201R
p.Q201R
13.01-Satterstrom2020 E
MROH7     1360JS0006chr1:
55161082-55161082
CTexonicDe novosynonymous SNVNM_001291332
NM_001039464
c.C1437T
c.C2883T
p.C479C
p.C961C
-2.0E-4Satterstrom2020 E
MYSM1     UK10K_SKUSE5080234chr1:
59147575-59147575
TCexonicDe novononsynonymous SNVNM_001085487c.A1141Gp.I381V9.507-Satterstrom2020 E
FOXD3     DEASD_0246_001chr1:
63789333-63789333
ATexonicDe novononsynonymous SNVNM_012183c.A604Tp.I202F20.6-Satterstrom2020 E
CACHD1     10C105879chr1:
65139072-65139072
TGexonicDe novononsynonymous SNVNM_001293274
NM_020925
c.T1764G
c.T2499G
p.F588L
p.F833L
13.51-Satterstrom2020 E
SGIP1     10C109647chr1:
67154953-67154953
GAexonicDe novononsynonymous SNVNM_001308203
NM_032291
c.G841A
c.G1438A
p.D281N
p.D480N
35.0-Satterstrom2020 E
SRSF11     DEASD_0233_001chr1:
70703186-70703187
GAGexonicDe novoframeshift deletionNM_001190987
NM_004768
c.670delA
c.670delA
p.K224fs
p.K224fs
--Satterstrom2020 E
MSH4     08C78798chr1:
76282194-76282195
CACexonicDe novoframeshift deletionNM_002440c.953delAp.Q318fs--Satterstrom2020 E
ASB17     AU219Achr1:
76397917-76397917
GTexonicDe novostopgainNM_080868c.C60Ap.C20X36.0-Satterstrom2020 E
ZNHIT6     NDAR_INVXF966VTK_wes1chr1:
86173504-86173504
TAexonicDe novononsynonymous SNVNM_017953
NM_001170670
c.A464T
c.A347T
p.E155V
p.E116V
18.71-Satterstrom2020 E
CLCA4     09C86256chr1:
87043692-87043692
GAexonicDe novononsynonymous SNVNM_012128c.G2059Ap.A687T11.44-Satterstrom2020 E
GBP6     AC03-1002-01chr1:
89846032-89846032
GAexonicDe novononsynonymous SNVNM_198460c.G713Ap.R238Q14.238.243E-6Satterstrom2020 E
CDC7     NDAR_INVWL738LDP_wes1chr1:
91973842-91973842
GTexonicDe novononsynonymous SNVNM_001134419
NM_001134420
NM_003503
c.G223T
c.G223T
c.G223T
p.A75S
p.A75S
p.A75S
34.0-Satterstrom2020 E
BTBD8     DEASD_0003_001chr1:
92546143-92546143
GAexonicDe novosynonymous SNVNM_183242c.G15Ap.G5G-8.403E-6Satterstrom2020 E
GLMN     DEASD_0031_001chr1:
92737032-92737032
TCexonicDe novononsynonymous SNVNM_053274c.A913Gp.M305V0.139-Satterstrom2020 E
MTF2     AU15203chr1:
93602372-93602372
GAexonicDe novononsynonymous SNVNM_001164393
NM_001164392
NM_007358
NM_001164391
c.G1264A
c.G1399A
c.G1570A
c.G1264A
p.D422N
p.D467N
p.D524N
p.D422N
16.38-Satterstrom2020 E
CCDC18     10C102957chr1:
93667486-93667486
GAexonicDe novononsynonymous SNVNM_001306076
NM_206886
c.G736A
c.G736A
p.E246K
p.E246K
26.86.683E-5Satterstrom2020 E
ABCA4     10C107587chr1:
94502713-94502713
ATexonicDe novosynonymous SNVNM_000350c.T3801Ap.T1267T--Satterstrom2020 E
ABCD3     09C81574chr1:
94953137-94953137
AGexonicDe novononsynonymous SNVNM_002858c.A937Gp.M313V15.149.967E-5Satterstrom2020 E
TMEM56     09C83024chr1:
95616924-95616924
AGexonicDe novosynonymous SNVNM_001199679
NM_001199691
NM_152487
c.A348G
c.A348G
c.A348G
p.K116K
p.K116K
p.K116K
--Satterstrom2020 E
PTBP2     NDAR_INVXU466BJV_wes1chr1:
97272493-97272493
GAexonicDe novononsynonymous SNVNM_001300990
NM_001300985
NM_001300986
NM_001300988
NM_001300989
NM_021190
NM_001300987
c.G994A
c.G1165A
c.G1174A
c.G1165A
c.G1150A
c.G1150A
c.G1198A
p.D332N
p.D389N
p.D392N
p.D389N
p.D384N
p.D384N
p.D400N
19.84-Satterstrom2020 E
VAV3     09C90753Achr1:
108138879-108138879
GCexonicDe novononsynonymous SNVNM_001079874
NM_006113
c.C625G
c.C2305G
p.P209A
p.P769A
13.52-Satterstrom2020 E
STXBP3     DEASD_0397_001chr1:
109315441-109315441
GAexonicDe novononsynonymous SNVNM_007269c.G593Ap.S198N13.23-Satterstrom2020 E
STXBP3     09C95782chr1:
109321932-109321932
AGexonicDe novononsynonymous SNVNM_007269c.A709Gp.I237V19.21-Satterstrom2020 E
CSF1     UK10K_SKUSE5080188chr1:
110456998-110456998
CTexonicDe novononsynonymous SNVNM_000757
NM_172210
NM_172211
NM_172212
c.C157T
c.C157T
c.C157T
c.C157T
p.R53W
p.R53W
p.R53W
p.R53W
14.59-Satterstrom2020 E
STRIP1     08C77589chr1:
110584430-110584431
GCGexonicDe novoframeshift deletionNM_001270768
NM_033088
c.548delC
c.833delC
p.A183fs
p.A278fs
--Satterstrom2020 E
ST7L     AU01204chr1:
113084629-113084629
TCexonicDe novononsynonymous SNVNM_001308264
NM_138728
NM_017744
NM_138727
NM_138729
c.A1024G
c.A1480G
c.A1573G
c.A1522G
c.A1573G
p.M342V
p.M494V
p.M525V
p.M508V
p.M525V
11.37-Satterstrom2020 E
DENND2C     DEASD_0336_001chr1:
115153709-115153709
CTexonicDe novononsynonymous SNVNM_198459
NM_001256404
c.G1183A
c.G1354A
p.E395K
p.E452K
21.6-Satterstrom2020 E
AMPD1     AU10204chr1:
115217373-115217373
CCTexonicDe novoframeshift insertionNM_001172626
NM_000036
c.1886dupA
c.1898dupA
p.K629fs
p.K633fs
--Satterstrom2020 E
TTF2     09C98146chr1:
117632812-117632812
CAexonicDe novononsynonymous SNVNM_003594c.C2478Ap.D826E17.06-Satterstrom2020 E
HAO2     DEASD_0380_001chr1:
119927556-119927556
CTexonicDe novosynonymous SNVNM_016527
NM_001005783
c.C441T
c.C480T
p.S147S
p.S160S
--Satterstrom2020 E
HSD3B2     NDAR_INVNX928JZW_wes1chr1:
119964751-119964751
GAexonicDe novosynonymous SNVNM_000198
NM_001166120
c.G627A
c.G627A
p.G209G
p.G209G
--Satterstrom2020 E
NBPF8     08C78517chr1:
148017617-148017626
ATCCCAGGACAexonicDe novononframeshift deletionNM_001037501c.1677_1685delp.559_562del--Satterstrom2020 E
APH1A     09C91621chr1:
150238957-150238957
GAexonicDe novostopgainNM_001243771
NM_001243772
NM_001077628
NM_016022
c.C538T
c.C499T
c.C709T
c.C709T
p.R180X
p.R167X
p.R237X
p.R237X
38.0-Satterstrom2020 E
APH1A     NDAR_INVVD872ZC6_wes1chr1:
150240177-150240177
CAexonicDe novononsynonymous SNVNM_001243771
NM_001077628
NM_016022
c.G126T
c.G297T
c.G297T
p.E42D
p.E99D
p.E99D
13.45-Satterstrom2020 E
SETDB1     AU134Achr1:
150933526-150933526
TCexonicDe novosynonymous SNVNM_001145415
NM_012432
c.T2988C
c.T2988C
p.A996A
p.A996A
--Satterstrom2020 E
PSMB4     DEASD_0371_001chr1:
151372965-151372965
CAexonicDe novononsynonymous SNVNM_002796c.C395Ap.A132D28.1-Satterstrom2020 E
POGZ     10C102646chr1:
151379469-151379469
GGGTACexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2177_2178insGTAC
c.2303_2304insGTAC
c.2276_2277insGTAC
c.2435_2436insGTAC
c.2462_2463insGTAC
p.T726fs
p.T768fs
p.T759fs
p.T812fs
p.T821fs
--Satterstrom2020 E
RORC     AU221Achr1:
151783852-151783852
CTexonicDe novosynonymous SNVNM_001001523
NM_005060
c.G1281A
c.G1344A
p.L427L
p.L448L
--Satterstrom2020 E
RORC     DEASD_0062_001chr1:
151787862-151787862
CGexonicDe novononsynonymous SNVNM_001001523
NM_005060
c.G275C
c.G338C
p.S92T
p.S113T
17.42-Satterstrom2020 E
FLG2     DEASD_0231_001chr1:
152327810-152327810
CTexonicDe novononsynonymous SNVNM_001014342c.G2452Ap.A818T10.157.414E-5Satterstrom2020 E
S100A1     09C83459chr1:
153604222-153604222
GAexonicDe novononsynonymous SNVNM_006271c.G190Ap.E64K16.051.647E-5Satterstrom2020 E
ILF2     10C112515chr1:
153637720-153637720
GAexonicDe novostopgainNM_001267809
NM_004515
c.C439T
c.C553T
p.R147X
p.R185X
37.0-Satterstrom2020 E
ATP8B2     NDAR_INVEB022VLQ_wes1chr1:
154307007-154307007
CTexonicDe novosynonymous SNVNM_001005855
NM_020452
c.C777T
c.C876T
p.S259S
p.S292S
-8.248E-6Satterstrom2020 E
ATP8B2     UK10K_SKUSE5080168chr1:
154317610-154317610
AGexonicDe novononsynonymous SNVNM_020452c.A2549Gp.N850S26.7-Satterstrom2020 E
RUSC1     09C89285chr1:
155296911-155296911
CAexonicDe novononsynonymous SNVNM_001278228
NM_001278230
NM_001105205
NM_001278227
NM_001278229
NM_014328
NM_001105203
NM_001105204
c.C977A
c.C995A
c.C1172A
c.C896A
c.C677A
c.C995A
c.C2402A
c.C2084A
p.A326D
p.A332D
p.A391D
p.A299D
p.A226D
p.A332D
p.A801D
p.A695D
12.76-Satterstrom2020 E
ASH1L     DEASD_0085_001chr1:
155448915-155448917
TTATexonicDe novoframeshift deletionNM_018489c.3744_3745delp.H1248fs--Satterstrom2020 E
ARHGEF2     DEASD_0278_001chr1:
155932442-155932442
GAexonicDe novononsynonymous SNVNM_001162383
NM_001162384
NM_004723
c.C1043T
c.C1040T
c.C959T
p.A348V
p.A347V
p.A320V
28.3-Satterstrom2020 E
LMNA     NDAR_INVEW902YT9_wes1chr1:
156105767-156105767
CTexonicDe novosynonymous SNVNM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625
c.C676T
c.C1012T
c.C1012T
c.C1012T
c.C1012T
c.C769T
c.C1012T
p.L226L
p.L338L
p.L338L
p.L338L
p.L338L
p.L257L
p.L338L
--Satterstrom2020 E
MEF2D     DEASD_0089_001chr1:
156452417-156452417
GAexonicDe novononsynonymous SNVNM_001271629
NM_005920
c.C70T
c.C70T
p.R24W
p.R24W
20.2-Satterstrom2020 E
ARHGEF11     DEASD_0084_001chr1:
156928572-156928572
TCexonicDe novosynonymous SNVNM_014784
NM_198236
c.A1344G
c.A1464G
p.Q448Q
p.Q488Q
--Satterstrom2020 E
CD1A     AU06304chr1:
158226779-158226779
GAexonicDe novononsynonymous SNVNM_001763c.G808Ap.A270T8.7482.472E-5Satterstrom2020 E
PYHIN1     DEASD_0302_001chr1:
158913694-158913694
CTexonicDe novostopgainNM_152501
NM_198928
NM_198929
NM_198930
c.C1117T
c.C1090T
c.C1117T
c.C1090T
p.R373X
p.R364X
p.R373X
p.R364X
21.13.0E-4Satterstrom2020 E
COPA     NDAR_INVGE342MBJ_wes1chr1:
160281685-160281685
TCexonicDe novononsynonymous SNVNM_001098398
NM_004371
c.A1049G
c.A1049G
p.K350R
p.K350R
15.398.261E-6Satterstrom2020 E
NCSTN     AU175Achr1:
160327962-160327962
CTexonicDe novosynonymous SNVNM_001290186
NM_015331
NM_001290184
c.C1617T
c.C2031T
c.C1971T
p.F539F
p.F677F
p.F657F
-4.118E-5Satterstrom2020 E
USP21     DEASD_0065_001chr1:
161130734-161130734
CTexonicDe novononsynonymous SNVNM_012475
NM_001014443
c.C304T
c.C304T
p.L102F
p.L102F
15.58-Satterstrom2020 E
OLFML2B     DEASD_0097_001chr1:
161989809-161989809
GAexonicDe novononsynonymous SNVNM_001297713
NM_015441
c.C338T
c.C338T
p.S113L
p.S113L
12.931.0E-4Satterstrom2020 E
CD247     09C91621chr1:
167410000-167410000
TCexonicDe novosynonymous SNVNM_000734
NM_198053
c.A63G
c.A63G
p.A21A
p.A21A
--Satterstrom2020 E
GORAB     DEASD_0124_001chr1:
170508470-170508470
CTexonicDe novononsynonymous SNVNM_001146039
NM_152281
c.C256T
c.C256T
p.L86F
p.L86F
17.22-Satterstrom2020 E
MYOC     AU079Achr1:
171621313-171621313
GAexonicDe novostopgainNM_000261c.C439Tp.R147X36.01.0E-4Satterstrom2020 E
SLC9C2     09C87173chr1:
173493166-173493166
AGexonicDe novononsynonymous SNVNM_178527c.T2582Cp.I861T7.386-Satterstrom2020 E
RC3H1     DEASD_0073_001chr1:
173947626-173947626
CTexonicDe novononsynonymous SNVNM_001300850
NM_001300851
NM_001300852
NM_172071
c.G1102A
c.G1102A
c.G1102A
c.G1102A
p.D368N
p.D368N
p.D368N
p.D368N
35.0-Satterstrom2020 E
SOAT1     AU051Achr1:
179310419-179310419
TGexonicDe novononsynonymous SNVNM_001252511
NM_001252512
NM_003101
c.T580G
c.T559G
c.T754G
p.S194A
p.S187A
p.S252A
26.5-Satterstrom2020 E
TDRD5     09C99485chr1:
179609178-179609178
GAexonicDe novosynonymous SNVNM_001199092
NM_001199085
NM_001199089
NM_001199091
NM_173533
c.G390A
c.G1725A
c.G1725A
c.G1725A
c.G1725A
p.R130R
p.R575R
p.R575R
p.R575R
p.R575R
--Satterstrom2020 E
CEP350     AU242Achr1:
179985050-179985050
AGexonicDe novononsynonymous SNVNM_014810c.A2119Gp.S707G27.3-Satterstrom2020 E
CACNA1E     AU03604chr1:
181721285-181721285
CTexonicDe novosynonymous SNVNM_001205294
NM_000721
NM_001205293
c.C3681T
c.C3738T
c.C3738T
p.N1227N
p.N1246N
p.N1246N
--Satterstrom2020 E
ZNF648     NDAR_INVAK465EDQ_wes1chr1:
182026889-182026889
CTexonicDe novononsynonymous SNVNM_001009992c.G257Ap.S86N9.12-Satterstrom2020 E
HMCN1     AC02-1240-01chr1:
185985113-185985113
TCexonicDe novosynonymous SNVNM_031935c.T4933Cp.L1645L-8.261E-6Satterstrom2020 E
PRG4     1360JS0011chr1:
186276795-186276795
CTexonicDe novosynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.C1542T
c.C1665T
c.C1821T
c.C1815T
c.C1944T
p.L514L
p.L555L
p.L607L
p.L605L
p.L648L
-1.695E-5Satterstrom2020 E
RGS1     08C78321chr1:
192545954-192545954
TCexonicDe novononsynonymous SNVNM_002922c.T269Cp.L90P15.04-Satterstrom2020 E
RGS2     NDAR_INVYN810UMB_wes1chr1:
192779294-192779294
ATsplicingDe novosplicing25.22.0E-4Satterstrom2020 E
CDC73     NDAR_INVZD496DT3_wes1chr1:
193111163-193111163
GGACexonicDe novoframeshift insertionNM_024529c.696_697insACp.R232fs--Satterstrom2020 E
KCNT2     10C105736chr1:
196395019-196395019
CGexonicDe novononsynonymous SNVNM_001287819
NM_001287820
NM_198503
c.G1084C
c.G1084C
c.G1084C
p.G362R
p.G362R
p.G362R
29.8-Satterstrom2020 E
CRB1     09C89011chr1:
197390429-197390429
GAexonicDe novononsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G1135A
c.G1471A
c.G1471A
c.G1264A
p.D379N
p.D491N
p.D491N
p.D422N
0.01-Satterstrom2020 E
NR5A2     10C108596chr1:
200017391-200017391
CTexonicDe novosynonymous SNVNM_001276464
NM_003822
NM_205860
c.C339T
c.C417T
c.C555T
p.L113L
p.L139L
p.L185L
8.781-Satterstrom2020 E
ANKRD66     11403.p1chr6:
46719684-46719684
CTexonicDe novononsynonymous SNVNM_001162435c.C164Tp.A55V--Satterstrom2020 E
CACNA1S     NDAR_INVAF559YZC_wes1chr1:
201009483-201009483
GCexonicDe novononsynonymous SNVNM_000069c.C5246Gp.S1749C6.996-Satterstrom2020 E
KDM5B     NDAR_INVDR082LLL_wes1chr1:
202724403-202724403
GGCexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1533dupG
c.1641dupG
p.H512fs
p.H548fs
--Satterstrom2020 E
KDM5B     DEASD_0303_001chr1:
202742307-202742307
CGexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.G515C
c.G515C
p.R172T
p.R172T
36.0-Satterstrom2020 E
KLHL12     NDAR_INVMN966KXZ_wes1chr1:
202863873-202863873
CGexonicDe novononsynonymous SNVNM_001303109
NM_001303051
NM_021633
c.G837C
c.G1254C
c.G1140C
p.M279I
p.M418I
p.M380I
16.45-Satterstrom2020 E
ZC3H11A       AU242Achr1:
203816590-203816590
ATexonicDe novostopgainNM_014827c.A1321Tp.K441X41.0-Satterstrom2020 E
NFASC     09C87225chr1:
204978698-204978698
CTexonicDe novosynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-Satterstrom2020 E
NFASC     1339JS0045chr1:
204978698-204978698
CTexonicDe novosynonymous SNVNM_001160331
NM_015090
NM_001160332
NM_001005388
c.C3150T
c.C3090T
c.C3105T
c.C3303T
p.N1050N
p.N1030N
p.N1035N
p.N1101N
9.507-Satterstrom2020 E
RBBP5     UK10K_SKUSE5080181chr1:
205072989-205072989
CTexonicDe novononsynonymous SNVNM_001193272
NM_001193273
NM_005057
c.G518A
c.G137A
c.G518A
p.G173D
p.G46D
p.G173D
36.0-Satterstrom2020 E
C4BPB     DEASD_0334_001chr1:
207265132-207265132
AGexonicDe novononsynonymous SNVNM_000716
NM_001017364
NM_001017365
NM_001017366
NM_001017367
c.A376G
c.A373G
c.A376G
c.A373G
c.A376G
p.T126A
p.T125A
p.T126A
p.T125A
p.T126A
17.67-Satterstrom2020 E
DIEXF     DEASD_0100_001chr1:
210016834-210016834
GAexonicDe novononsynonymous SNVNM_014388c.G1820Ap.R607H21.74.0E-4Satterstrom2020 E
NEK2     AU037Achr1:
211843642-211843642
GAexonicDe novononsynonymous SNVNM_001204182
NM_001204183
NM_002497
c.C746T
c.C746T
c.C746T
p.T249M
p.T249M
p.T249M
17.48.243E-6Satterstrom2020 E
FLVCR1     DEASD_0118_001chr1:
213061871-213061871
GAexonicDe novononsynonymous SNVNM_014053c.G1348Ap.A450T35.0-Satterstrom2020 E
PTPN14     DEASD_0262_001chr1:
214557735-214557735
GAexonicDe novononsynonymous SNVNM_005401c.C1463Tp.P488L24.22.471E-5Satterstrom2020 E
KCTD3     DEASD_0011_001chr1:
215781447-215781447
GAexonicDe novosynonymous SNVNM_016121c.G1398Ap.A466A8.2348.256E-6Satterstrom2020 E
USH2A     09C87038chr1:
216363573-216363573
AGexonicDe novononsynonymous SNVNM_007123
NM_206933
c.T4388C
c.T4388C
p.L1463S
p.L1463S
12.03-Satterstrom2020 E
BPNT1     UK10K_SKUSE5080257chr1:
220233081-220233081
CAexonicDe novononsynonymous SNVNM_001286149
NM_001286150
NM_001286151
NM_006085
c.G560T
c.G617T
c.G560T
c.G725T
p.G187V
p.G206V
p.G187V
p.G242V
25.9-Satterstrom2020 E
MARK1     10C116616chr1:
220835211-220835211
GAexonicDe novosynonymous SNVNM_001286128
NM_001286126
NM_001286124
NM_018650
c.G1980A
c.G2046A
c.G2094A
c.G2091A
p.P660P
p.P682P
p.P698P
p.P697P
-1.678E-5Satterstrom2020 E
MIA3     DEASD_0296_001chr1:
222805584-222805584
AGexonicDe novononsynonymous SNVNM_198551c.A3247Gp.T1083A1.62-Satterstrom2020 E
MIA3     ASDFI_1144chr1:
222835428-222835428
GAexonicDe novononsynonymous SNVNM_001300867
NM_198551
c.G1778A
c.G5144A
p.R593Q
p.R1715Q
12.498.305E-6Satterstrom2020 E
CDC42BPA     UK10K_SKUSE5080268chr1:
227307548-227307548
TGexonicDe novononsynonymous SNVNM_003607
NM_014826
c.A1604C
c.A1604C
p.K535T
p.K535T
25.5-Satterstrom2020 E
RYR2     DEASD_0115_001chr1:
237870440-237870440
CAexonicDe novononsynonymous SNVNM_001035c.C9772Ap.P3258T13.93-Satterstrom2020 E
CHRM3     DEASD_0050_001chr1:
240072255-240072255
AGexonicDe novononsynonymous SNVNM_000740c.A1504Gp.I502V14.25-Satterstrom2020 E
CHML     DEASD_0121_001chr1:
241798420-241798420
TAexonicDe novononsynonymous SNVNM_001821c.A649Tp.I217F9.41-Satterstrom2020 E
EXO1     AC02-1177-01chr1:
242015681-242015681
TGexonicDe novosynonymous SNVNM_003686
NM_006027
NM_130398
c.T249G
c.T249G
c.T249G
p.P83P
p.P83P
p.P83P
--Satterstrom2020 E
ZBTB18     NDAR_INVVH064RG2_wes1chr1:
244218501-244218501
CTexonicDe novosynonymous SNVNM_006352
NM_001278196
NM_205768
c.C1398T
c.C1398T
c.C1425T
p.H466H
p.H466H
p.H475H
2.1868.315E-6Satterstrom2020 E
ADSS     ASDFI_1572chr1:
244583599-244583599
CAsplicingDe novosplicing23.6-Satterstrom2020 E
DESI2     DEASD_0061_001chr1:
244816617-244816617
TTGexonicDe novoframeshift insertionNM_001297746
NM_016076
c.3dupG
c.3dupG
p.M1fs
p.M1fs
--Satterstrom2020 E
PGBD2     AU13203chr1:
249211378-249211378
ATexonicDe novononsynonymous SNVNM_170725c.A595Tp.M199L12.84-Satterstrom2020 E
SH3YL1     UK10K_SKUSE5080232chr2:
234212-234212
CTexonicDe novononsynonymous SNVNM_001159597
NM_015677
NM_001282682
NM_001282687
c.G352A
c.G352A
c.G64A
c.G64A
p.G118R
p.G118R
p.G22R
p.G22R
17.413.319E-5Satterstrom2020 E
MYT1L     DEASD_0440_001chr2:
1893073-1893073
GAexonicDe novosynonymous SNVNM_001303052
NM_015025
c.C2460T
c.C2454T
p.P820P
p.P818P
-8.28E-6Satterstrom2020 E
MYT1L     DEASD_0057_001chr2:
1921023-1921023
GCexonicDe novononsynonymous SNVNM_001303052
NM_015025
c.C1572G
c.C1566G
p.H524Q
p.H522Q
19.46-Satterstrom2020 E
MYT1L     AU062Achr2:
1926950-1926950
GTexonicDe novostopgainNM_001303052
NM_015025
c.C591A
c.C591A
p.Y197X
p.Y197X
39.0-Satterstrom2020 E
ASAP2     09C84797chr2:
9467956-9467956
AGexonicDe novononsynonymous SNVNM_001135191
NM_003887
c.A602G
c.A602G
p.Y201C
p.Y201C
23.1-Satterstrom2020 E
NOL10     AU246Achr2:
10747348-10747348
ACexonicDe novononsynonymous SNVNM_001261392
NM_001261394
NM_024894
c.T1038G
c.T966G
c.T1116G
p.D346E
p.D322E
p.D372E
21.6-Satterstrom2020 E
GREB1     NDAR_INVMK181HMA_wes1chr2:
11765413-11765413
GAexonicDe novosynonymous SNVNM_014668c.G4281Ap.S1427S-1.657E-5Satterstrom2020 E
NTSR2     NDAR_INVRR429WG7_wes1chr2:
11798722-11798722
GAexonicDe novosynonymous SNVNM_012344c.C1116Tp.A372A-1.0E-4Satterstrom2020 E
WDR35     NDAR_INVPW048JAT_wes1chr2:
20138107-20138107
CGexonicDe novononsynonymous SNVNM_020779
NM_001006657
c.G1982C
c.G2015C
p.R661P
p.R672P
26.1-Satterstrom2020 E
APOB     1483JS0022chr2:
21229188-21229188
TGexonicDe novononsynonymous SNVNM_000384c.A10552Cp.N3518H13.02-Satterstrom2020 E
ADCY3     DEASD_0369_004chr2:
25042880-25042880
AGexonicDe novononsynonymous SNVNM_004036c.T3356Cp.L1119S27.8-Satterstrom2020 E
ADCY3     DEASD_0193_001chr2:
25057739-25057739
CTexonicDe novononsynonymous SNVNM_004036c.G1729Ap.V577M14.51-Satterstrom2020 E
ADCY3     DEASD_0171_001chr2:
25061366-25061366
GAexonicDe novononsynonymous SNVNM_004036c.C1481Tp.A494V11.3-Satterstrom2020 E
DNAJC27     ASDFI_1071chr2:
25180710-25180710
TGexonicDe novononsynonymous SNVNM_001198559
NM_016544
c.A374C
c.A374C
p.E125A
p.E125A
15.99-Satterstrom2020 E
DNMT3A     DEASD_0131_001chr2:
25463289-25463289
TCexonicDe novononsynonymous SNVNM_153759
NM_022552
NM_175629
c.A1637G
c.A2204G
c.A2204G
p.Y546C
p.Y735C
p.Y735C
21.31.0E-4Satterstrom2020 E
KIF3C     DEASD_0016_001chr2:
26203250-26203250
TCexonicDe novononsynonymous SNVNM_002254c.A1537Gp.K513E15.55-Satterstrom2020 E
C2orf70     NDAR_INVFF921HTH_wes1chr2:
26798966-26798966
CTexonicDe novononsynonymous SNVNM_001105519c.C271Tp.R91C8.1441.656E-5Satterstrom2020 E
DPYSL5     AU04203chr2:
27164818-27164818
GAexonicDe novononsynonymous SNVNM_001253723
NM_001253724
NM_020134
c.G1090A
c.G1090A
c.G1090A
p.V364I
p.V364I
p.V364I
15.91-Satterstrom2020 E
SPAST     09C98906chr2:
32361662-32361663
CTCexonicDe novoframeshift deletionNM_199436
NM_014946
c.1181delT
c.1277delT
p.L394fs
p.L426fs
--Satterstrom2020 E
BIRC6     10C116035chr2:
32640862-32640862
CGexonicDe novononsynonymous SNVNM_016252c.C2503Gp.R835G15.97-Satterstrom2020 E
BIRC6     DEASD_0255_001chr2:
32656133-32656133
CTexonicDe novostopgainNM_016252c.C3223Tp.R1075X38.0-Satterstrom2020 E
HEATR5B     10C116035chr2:
37299319-37299319
GAexonicDe novostopgainNM_019024c.C703Tp.R235X33.08.24E-6Satterstrom2020 E
DHX57     10C110254chr2:
39053113-39053113
GAexonicDe novostopgainNM_198963c.C2890Tp.R964X37.01.648E-5Satterstrom2020 E
DHX57     NDAR_INVWJ720YXQ_wes1chr2:
39065068-39065068
TCexonicDe novononsynonymous SNVNM_198963c.A2447Gp.K816R19.95-Satterstrom2020 E
LRPPRC     DEASD_0094_001chr2:
44184566-44184566
GAexonicDe novononsynonymous SNVNM_133259c.C1607Tp.S536L8.105-Satterstrom2020 E
SIX2     08C79293chr2:
45235850-45235850
TAexonicDe novostopgainNM_016932c.A400Tp.K134X41.0-Satterstrom2020 E
SRBD1     10C103541chr2:
45778322-45778322
TAexonicDe novononsynonymous SNVNM_018079c.A1617Tp.L539F20.5-Satterstrom2020 E
MCFD2     NDAR_INVEX697GZ6_wes1chr2:
47136241-47136241
CTexonicDe novononsynonymous SNVNM_001171507
NM_001171508
NM_139279
NM_001171506
c.G70A
c.G70A
c.G70A
c.G70A
p.A24T
p.A24T
p.A24T
p.A24T
10.174.133E-5Satterstrom2020 E
MSH2     AU186Achr2:
47672716-47672716
TAexonicDe novononsynonymous SNVNM_000251
NM_001258281
c.T1306A
c.T1108A
p.F436I
p.F370I
22.9-Satterstrom2020 E
PPP1R21     AU207Achr2:
48692688-48692688
GAexonicDe novosynonymous SNVNM_001135629
NM_001193475
NM_152994
c.G804A
c.G804A
c.G804A
p.T268T
p.T268T
p.T268T
-8.243E-6Satterstrom2020 E
NRXN1     DEASD_0107_001chr2:
50318536-50318536
CTexonicDe novononsynonymous SNVNM_138735
NM_004801
NM_001135659
c.G538A
c.G3643A
c.G3763A
p.V180I
p.V1215I
p.V1255I
20.1-Satterstrom2020 E
NRXN1     NDAR_INVCG000TG1_wes1chr2:
50850511-50850511
TGexonicDe novononsynonymous SNVNM_004801
NM_001135659
c.A1075C
c.A1174C
p.N359H
p.N392H
18.45-Satterstrom2020 E
PPP4R3B     10C106627chr2:
55808728-55808728
GCexonicDe novononsynonymous SNVNM_001122964
NM_001282850
NM_020463
c.C1340G
c.C1340G
c.C1340G
p.P447R
p.P447R
p.P447R
28.1-Satterstrom2020 E
BCL11A     DEASD_0096_001chr2:
60688721-60688722
GAGexonicDe novoframeshift deletionNM_018014
NM_022893
c.1325delT
c.1325delT
p.L442fs
p.L442fs
--Satterstrom2020 E
PAPOLG     AU166Achr2:
61014164-61014164
CAexonicDe novononsynonymous SNVNM_022894c.C1249Ap.P417T27.4-Satterstrom2020 E
VPS54     09C84554chr2:
64120568-64120568
CAexonicDe novononsynonymous SNVNM_001005739
NM_016516
c.G2894T
c.G2930T
p.R965M
p.R977M
28.9-Satterstrom2020 E
SLC1A4     NDAR_INVJT291VPH_wes1chr2:
65245299-65245299
GAexonicDe novononsynonymous SNVNM_001193493
NM_003038
c.G235A
c.G1129A
p.V79M
p.V377M
36.01.647E-5Satterstrom2020 E
SPRED2     09C99529chr2:
65561787-65561787
GAexonicDe novostopgainNM_001128210
NM_181784
c.C316T
c.C325T
p.R106X
p.R109X
26.52.471E-5Satterstrom2020 E
ANTXR1     10C101202chr2:
69409650-69409650
CTexonicDe novononsynonymous SNVNM_032208c.C1211Tp.T404I19.24-Satterstrom2020 E
PCYOX1     NDAR_INVPC670BF4_wes1chr2:
70502099-70502099
GAexonicDe novononsynonymous SNVNM_016297c.G503Ap.R168H19.461.648E-5Satterstrom2020 E
ZNF638     10C102294chr2:
71635358-71635358
CGexonicDe novononsynonymous SNVNM_001014972
NM_001252612
NM_001252613
NM_014497
c.C3242G
c.C3242G
c.C3242G
c.C3242G
p.P1081R
p.P1081R
p.P1081R
p.P1081R
13.19-Satterstrom2020 E
DYSF     ASDFI_1061chr2:
71788955-71788955
CTexonicDe novononsynonymous SNVNM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982
c.C2194T
c.C2194T
c.C2197T
c.C2197T
c.C2239T
c.C2236T
c.C2287T
c.C2287T
c.C2239T
c.C2290T
c.C2290T
c.C2236T
c.C2329T
c.C2332T
p.H732Y
p.H732Y
p.H733Y
p.H733Y
p.H747Y
p.H746Y
p.H763Y
p.H763Y
p.H747Y
p.H764Y
p.H764Y
p.H746Y
p.H777Y
p.H778Y
12.08-Satterstrom2020 E
DYSF     DEASD_0147_001chr2:
71797809-71797809
CTexonicDe novostopgainNM_001130976
NM_001130977
NM_001130984
NM_001130986
NM_001130455
NM_001130978
NM_001130980
NM_001130981
NM_001130983
NM_001130985
NM_001130987
NM_003494
NM_001130979
NM_001130982
c.C3070T
c.C3070T
c.C3073T
c.C3073T
c.C3115T
c.C3112T
c.C3163T
c.C3163T
c.C3115T
c.C3166T
c.C3166T
c.C3112T
c.C3205T
c.C3208T
p.R1024X
p.R1024X
p.R1025X
p.R1025X
p.R1039X
p.R1038X
p.R1055X
p.R1055X
p.R1039X
p.R1056X
p.R1056X
p.R1038X
p.R1069X
p.R1070X
44.01.679E-5Satterstrom2020 E
CYP26B1     10C107334chr2:
72362470-72362470
GAexonicDe novononsynonymous SNVNM_001277742
NM_019885
c.C283T
c.C508T
p.R95C
p.R170C
21.5-Satterstrom2020 E
ALMS1     AC04-0014-01chr2:
73800198-73800198
ACexonicDe novononsynonymous SNVNM_015120c.A11191Cp.N3731H15.95-Satterstrom2020 E
DUSP11     11C119814chr2:
73989820-73989820
ATexonicDe novononsynonymous SNVNM_003584c.T1102Ap.S368T10.03-Satterstrom2020 E
SLC4A5     09C81170chr2:
74483044-74483044
TCexonicDe novononsynonymous SNVNM_021196
NM_133478
c.A883G
c.A883G
p.M295V
p.M295V
15.29-Satterstrom2020 E
MOGS     NDAR_INVEX320NGB_wes1chr2:
74689442-74689442
CTexonicDe novononsynonymous SNVNM_006302
NM_001146158
c.G1474A
c.G1156A
p.D492N
p.D386N
17.69-Satterstrom2020 E
SFTPB     UK10K_SKUSE5080162chr2:
85892817-85892817
CTexonicDe novononsynonymous SNVNM_000542
NM_198843
c.G530A
c.G530A
p.R177Q
p.R177Q
1.5991.0E-4Satterstrom2020 E
PTCD3     AU220Achr2:
86333407-86333407
CTexonicDe novononsynonymous SNVNM_017952c.C37Tp.R13C13.611.701E-5Satterstrom2020 E
KDM3A     08C79295chr2:
86678313-86678313
ATexonicDe novostopgainNM_001146688
NM_018433
c.A430T
c.A430T
p.K144X
p.K144X
27.2-Satterstrom2020 E
PROM2     NDAR_INVWB513RW6_wes1chr2:
95943281-95943281
CAexonicDe novosynonymous SNVNM_001165977
NM_001165978
NM_144707
c.C942A
c.C942A
c.C942A
p.A314A
p.A314A
p.A314A
--Satterstrom2020 E
SNRNP200     DEASD_0008_001chr2:
96962741-96962741
TCexonicDe novononsynonymous SNVNM_014014c.A1445Gp.N482S26.1-Satterstrom2020 E
CNNM4     AU221Achr2:
97464939-97464939
CTexonicDe novosynonymous SNVNM_020184c.C1827Tp.A609A-1.648E-5Satterstrom2020 E
ZAP70     09C82222chr2:
98354242-98354242
CTexonicDe novononsynonymous SNVNM_207519
NM_001079
c.C584T
c.C1505T
p.P195L
p.P502L
31.0-Satterstrom2020 E
CNGA3     AU180Achr2:
99006180-99006180
GAexonicDe novononsynonymous SNVNM_001079878
NM_001298
c.G455A
c.G509A
p.R152H
p.R170H
11.834.119E-5Satterstrom2020 E
INPP4A     AU128Achr2:
99163073-99163073
TCexonicDe novononsynonymous SNVNM_001134224
NM_001134225
NM_001566
NM_004027
c.T1079C
c.T1079C
c.T1079C
c.T1079C
p.I360T
p.I360T
p.I360T
p.I360T
15.168.297E-6Satterstrom2020 E
IL1RL1     DEASD_0170_001chr2:
102965622-102965622
GAexonicDe novononsynonymous SNVNM_016232c.G1201Ap.V401I19.56-Satterstrom2020 E
SEPT10     AU213Achr2:
110310766-110310766
AGexonicDe novosynonymous SNVNM_178584
NM_144710
c.T990C
c.T1059C
p.H330H
p.H353H
--Satterstrom2020 E
SEPT10     AC677.201chr2:
110323354-110323354
CGexonicDe novononsynonymous SNVNM_178584
NM_144710
c.G776C
c.G845C
p.W259S
p.W282S
23.08.281E-6Satterstrom2020 E
NPHP1     DEASD_0153_001chr2:
110901141-110901141
TGexonicDe novosynonymous SNVNM_001128179
NM_000272
NM_001128178
NM_207181
c.A1318C
c.A1675C
c.A1507C
c.A1672C
p.R440R
p.R559R
p.R503R
p.R558R
--Satterstrom2020 E
MERTK