or
or
Exact

Results for "Fu2022"

Variant Events: 26143

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
GON4L     SSC07823chr1:
155792248-155792248		TGexonicDe novononsynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292		c.A717C
c.A717C
c.A717C
c.A717C
c.A717C		p.E239D
p.E239D
p.E239D
p.E239D
p.E239D		15.2-Fu2022 E
GON4L     SSC02037chr1:
155736011-155736011		GAexonicDe novosynonymous SNVNM_001282856
NM_001282858
NM_001282860
NM_001282861
NM_032292		c.C3253T
c.C3253T
c.C3253T
c.C3253T
c.C3253T		p.L1085L
p.L1085L
p.L1085L
p.L1085L
p.L1085L		--Fu2022 E
THBS3     SSC10287chr1:
155168285-155168285		AGexonicDe novosynonymous SNVNM_001252608
NM_001252607
NM_007112		c.T1629C
c.T1962C
c.T1989C		p.D543D
p.D654D
p.D663D		--Fu2022 E
PYHIN1     SSC07646chr1:
158912155-158912155		GAexonicDe novononsynonymous SNVNM_152501
NM_198928
NM_198929
NM_198930		c.G968A
c.G941A
c.G968A
c.G941A		p.G323E
p.G314E
p.G323E
p.G314E		13.35-Fu2022 E
FCRL6     SSC00558chr1:
159778750-159778750		GAsplicingDe novosplicing11.07-Fu2022 E
PEAR1     SSC10273chr1:
156883034-156883034		CTexonicDe novononsynonymous SNVNM_001080471c.C2471Tp.T824I32.0-Fu2022 E
OR6N2     SSC02938chr1:
158746730-158746730		TCexonicDe novosynonymous SNVNM_001005278c.A696Gp.S232S--Fu2022 E
METTL11B     SSC07571chr1:
170136849-170136849		AGexonicDe novononsynonymous SNVNM_001136107c.A803Gp.Q268R13.11-Fu2022 E
CCDC181     SSC02972chr1:
169390748-169390748		GAexonicDe novosynonymous SNVNM_001300969
NM_021179
NM_001300968		c.C921T
c.C921T
c.C921T		p.N307N
p.N307N
p.N307N		--Fu2022 E
VANGL2     SSC03000chr1:
160393871-160393871		CTexonicDe novononsynonymous SNVNM_020335c.C1103Tp.T368I14.85-Fu2022 E
ADCY10     SSC06754chr1:
167870958-167870958		GAexonicDe novosynonymous SNVNM_001297772
NM_018417		c.C102T
c.C378T		p.I34I
p.I126I		--Fu2022 E
MR1     SSC05067chr1:
181021601-181021601		CTexonicDe novononsynonymous SNVNM_001194999
NM_001531		c.C700T
c.C835T		p.H234Y
p.H279Y		11.78-Fu2022 E
DHX9     SSC05600chr1:
182852665-182852665		GAexonicDe novononsynonymous SNVNM_001357c.G3155Ap.R1052Q33.0-Fu2022 E
FMO3     SSC06996chr1:
171086567-171086567		CTexonicDe novosynonymous SNVNM_001002294
NM_006894		c.C1584T
c.C1584T		p.F528F
p.F528F		--Fu2022 E
ABL2     SSC11000chr1:
179077107-179077107		CTexonicDe novononsynonymous SNVNM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237		c.G3232A
c.G2923A
c.G2878A
c.G3250A
c.G3295A
c.G2941A
c.G2986A		p.A1078T
p.A975T
p.A960T
p.A1084T
p.A1099T
p.A981T
p.A996T		20.9-Fu2022 E
CACNA1S     SSC05167chr1:
201047218-201047218		CTexonicDe novononsynonymous SNVNM_000069c.G1408Ap.V470M15.31-Fu2022 E
KIF14     SSC11682chr1:
200584483-200584483		GAexonicDe novononsynonymous SNVNM_014875c.C1367Tp.T456M31.0-Fu2022 E
PRG4     SSC00317chr1:
186281435-186281435		AGexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807		c.A3520G
c.A3643G
c.A3799G
c.A3793G
c.A3922G		p.I1174V
p.I1215V
p.I1267V
p.I1265V
p.I1308V		4.741-Fu2022 E
ATP2B4     SSC04564chr1:
203652386-203652386		GAexonicDe novononsynonymous SNVNM_001001396
NM_001684		c.G53A
c.G53A		p.R18H
p.R18H		0.0955.767E-5Fu2022 E
FMOD     SSC00977chr1:
203316602-203316602		CGexonicDe novononsynonymous SNVNM_002023c.G797Cp.G266A1.302-Fu2022 E
ETNK2     SSC09194chr1:
204103821-204103821		CAexonicDe novononsynonymous SNVNM_001297760c.G1016Tp.G339V10.29-Fu2022 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-Fu2022 E
KDM5B     SSC08501chr1:
202715066-202715066		AGexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T2243C
c.T2351C		p.L748S
p.L784S		26.2-Fu2022 E
KDM5B     SSC08721chr1:
202698172-202698172		GAexonicDe novostopgainNM_006618
NM_001314042		c.C4627T
c.C4735T		p.R1543X
p.R1579X		43.0-Fu2022 E
PTPN14     SSC11148chr1:
214638045-214638045		CTexonicDe novosynonymous SNVNM_005401c.G102Ap.E34E--Fu2022 E
ANGEL2     SSC11991chr1:
213168518-213168518		CTexonicDe novosynonymous SNVNM_001300757
NM_001300758
NM_001300753
NM_001300755
NM_144567		c.G993A
c.G993A
c.G1122A
c.G1122A
c.G1500A		p.L331L
p.L331L
p.L374L
p.L374L
p.L500L		--Fu2022 E
ZNF678     SSC06810chr1:
227843134-227843134		CAexonicDe novononsynonymous SNVNM_178549c.C1348Ap.H450N12.44-Fu2022 E
PM20D1     SSC07586chr1:
205797834-205797834		AGexonicDe novononsynonymous SNVNM_152491c.T1423Cp.Y475H14.02-Fu2022 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-Fu2022 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-Fu2022 E
INTS7     SSC04824chr1:
212190300-212190300		CGexonicDe novononsynonymous SNVNM_001199809
NM_001199811
NM_001199812
NM_015434		c.G290C
c.G437C
c.G437C
c.G437C		p.S97T
p.S146T
p.S146T
p.S146T		30.0-Fu2022 E
LAMB3     SSC06545chr1:
209823359-209823359		ACexonicDe novononsynonymous SNVNM_001017402
NM_000228
NM_001127641		c.T133G
c.T133G
c.T133G		p.S45A
p.S45A
p.S45A		22.7-Fu2022 E
LYST     SSC03679chr1:
235973332-235973332		TCexonicDe novosynonymous SNVNM_000081
NM_001301365		c.A786G
c.A786G		p.L262L
p.L262L		--Fu2022 E
HNRNPU     SSC09263chr1:
245027141-245027141		CGexonicDe novononsynonymous SNVNM_004501
NM_031844		c.G469C
c.G469C		p.G157R
p.G157R		12.79-Fu2022 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		--Fu2022 E
OBSCN     SSC02395chr1:
228434310-228434310		GAexonicDe novononsynonymous SNVNM_001098623
NM_052843
NM_001271223		c.G3839A
c.G3839A
c.G4115A		p.C1280Y
p.C1280Y
p.C1372Y		14.12-Fu2022 E
DISC1     SSC04771chr1:
231935948-231935948		CGexonicDe novononsynonymous SNVNM_001164540
NM_001012957
NM_001012959
NM_001164538
NM_001164539
NM_001164541
NM_001164542
NM_001164544
NM_018662
NM_001164537		c.C1418G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1784G
c.C1880G		p.A473G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A595G
p.A627G		20.4-Fu2022 E
NUP133     SSC05931chr1:
229637765-229637765		GAexonicDe novononsynonymous SNVNM_018230c.C386Tp.A129V15.03-Fu2022 E
CMPK2     SSC07370chr2:
6990025-6990025		GAexonicDe novostopgainNM_207315c.C1306Tp.Q436X14.8-Fu2022 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-Fu2022 E
PXDN     SSC06985chr2:
1658190-1658190		CTexonicDe novononsynonymous SNVNM_012293c.G1928Ap.R643Q19.98-Fu2022 E
OR2T1     SSC09641chr1:
248569659-248569659		AGexonicDe novononsynonymous SNVNM_030904c.A364Gp.M122V7.92-Fu2022 E
DNMT3A     SSC06157chr2:
25464520-25464520		CAexonicDe novononsynonymous SNVNM_153759
NM_022552
NM_175629		c.G1426T
c.G1993T
c.G1993T		p.V476L
p.V665L
p.V665L		33.08.343E-6Fu2022 E
EMILIN1     SSC05396chr2:
27304987-27304987		ACexonicDe novononsynonymous SNVNM_007046c.A548Cp.E183A14.11-Fu2022 E
ITSN2     SSC03134chr2:
24518595-24518595		CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152		c.G1573A
c.G1573A
c.G1573A		p.V525I
p.V525I
p.V525I		11.83-Fu2022 E
NCOA1     SSC09383chr2:
24928022-24928022		CTexonicDe novosynonymous SNVNM_003743
NM_147223
NM_147233		c.C1017T
c.C1017T
c.C1017T		p.S339S
p.S339S
p.S339S		-3.296E-5Fu2022 E
NCOA1     SSC05163chr2:
24920563-24920563		CGexonicDe novononsynonymous SNVNM_003743
NM_147223
NM_147233		c.C845G
c.C845G
c.C845G		p.A282G
p.A282G
p.A282G		29.8-Fu2022 E
SCN2A     DEASD_0262_001chr2:
166245137-166245137		ATsplicingDe novosplicing12.35-Fu2022 E
MEMO1   SSC08980chr2:
32168370-32168370		CTsplicingDe novosplicing15.93-Fu2022 E
BIRC6     SSC06522chr2:
32658756-32658756		CGexonicDe novononsynonymous SNVNM_016252c.C3293Gp.A1098G16.82-Fu2022 E
CAD     SSC07542chr2:
27445812-27445812		TCexonicDe novononsynonymous SNVNM_001306079
NM_004341		c.T716C
c.T716C		p.V239A
p.V239A		7.444-Fu2022 E
C2orf71     SSC08056chr2:
29295335-29295335		GAexonicDe novononsynonymous SNVNM_001029883c.C1793Tp.S598L10.8-Fu2022 E
NRXN1     SSC04927chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Fu2022 E
FBXO11     SSC02723chr2:
48040938-48040938		TAexonicDe novononsynonymous SNVNM_001190274
NM_025133		c.A2075T
c.A1823T		p.Y692F
p.Y608F		25.2-Fu2022 E
PSME4     SSC11394chr2:
54114533-54114533		GAexonicDe novononsynonymous SNVNM_014614c.C4592Tp.P1531L16.03-Fu2022 E
ERLEC1     SSC11341chr2:
54040122-54040122		AGexonicDe novononsynonymous SNVNM_001127398
NM_001127397
NM_015701		c.A976G
c.A1138G
c.A1138G		p.T326A
p.T380A
p.T380A		18.95-Fu2022 E
GALM     SSC00057chr2:
38958886-38958886		TCexonicDe novosynonymous SNVNM_138801c.T786Cp.H262H-1.661E-5Fu2022 E
CCT4     SSC00098chr2:
62115545-62115545		AGexonicDe novononsynonymous SNVNM_001256721
NM_006430		c.T98C
c.T98C		p.I33T
p.I33T		26.6-Fu2022 E
GMCL1     SSC09855chr2:
70106125-70106125		AGexonicDe novononsynonymous SNVNM_178439c.A1537Gp.K513E13.05-Fu2022 E
REL     SSC03262chr2:
61145360-61145360		TGexonicDe novosynonymous SNVNM_001291746
NM_002908		c.T570G
c.T570G		p.R190R
p.R190R		--Fu2022 E
C2orf42     SSC03349chr2:
70392261-70392261		TCexonicDe novononsynonymous SNVNM_017880c.A1316Gp.N439S12.73-Fu2022 E
C2orf42     SSC05321chr2:
70377544-70377544		GAexonicDe novononsynonymous SNVNM_017880c.C1669Tp.P557S12.868.256E-6Fu2022 E
TCF7L1     SSC02484chr2:
85529727-85529727		GTexonicDe novononsynonymous SNVNM_031283c.G646Tp.D216Y23.0-Fu2022 E
ALMS1     SSC08031chr2:
73681132-73681132		TGexonicDe novononsynonymous SNVNM_015120c.T7475Gp.L2492R17.75-Fu2022 E
BUB1     SSC12762chr2:
111406869-111406869		AGexonicDe novosynonymous SNVNM_001278616
NM_001278617
NM_004336		c.T2229C
c.T2289C
c.T2289C		p.N743N
p.N763N
p.N763N		-8.251E-6Fu2022 E
CLASP1     SSC03203chr2:
122154835-122154835		TCexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_015282
NM_001142273		c.A2920G
c.A2938G
c.A3004G
c.A2944G		p.I974V
p.I980V
p.I1002V
p.I982V		18.72-Fu2022 E
SEMA4C     SSC02077chr2:
97529773-97529773		CTexonicDe novononsynonymous SNVNM_017789c.G1220Ap.R407Q11.22-Fu2022 E
RANBP2     SSC07699chr2:
109382819-109382819		ATexonicDe novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Fu2022 E
RFX8     SSC03560chr2:
102083246-102083246		ACexonicDe novononsynonymous SNVNM_001145664c.T65Gp.F22C16.45-Fu2022 E
ARHGEF4     SSC10777chr2:
131796442-131796442		GAexonicDe novononsynonymous SNVNM_032995
NM_015320		c.G584A
c.G584A		p.S195N
p.S195N		15.15-Fu2022 E
SCN2A     SSC03177chr2:
166201379-166201379		CAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Fu2022 E
SCN2A     SSC11033chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Fu2022 E
SCN2A     SSC08396chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Fu2022 E
SCN2A     SSC00344chr2:
166210819-166210819		GTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Fu2022 E
NEB     SSC06883chr2:
152512435-152512435		TCexonicDe novononsynonymous SNVNM_001164507
NM_001164508
NM_001271208
NM_004543		c.A6598G
c.A6598G
c.A6598G
c.A6598G		p.S2200G
p.S2200G
p.S2200G
p.S2200G		22.9-Fu2022 E
GORASP2     SSC06166chr2:
171819397-171819397		TGexonicDe novononsynonymous SNVNM_001201428
NM_015530		c.T755G
c.T959G		p.L252R
p.L320R		20.9-Fu2022 E
MAP3K20     SSC09696chr2:
174096941-174096941		GAexonicDe novononsynonymous SNVNM_016653c.G1054Ap.V352I15.133.312E-5Fu2022 E
RAPGEF4     SSC09204chr2:
173885400-173885400		AGexonicDe novononsynonymous SNVNM_001282901
NM_001282900
NM_001100397
NM_001282899
NM_007023		c.A1550G
c.A1697G
c.A1778G
c.A1751G
c.A2210G		p.N517S
p.N566S
p.N593S
p.N584S
p.N737S		26.1-Fu2022 E
CERS6     SSC03560chr2:
169417831-169417831		AGexonicDe novononsynonymous SNVNM_001256126
NM_203463		c.A406G
c.A406G		p.M136V
p.M136V		4.5241.649E-5Fu2022 E
SCN1A     SSC04635chr2:
166848006-166848006		TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.A5779G
c.A5695G
c.A5746G
c.A5779G		p.R1927G
p.R1899G
p.R1916G
p.R1927G		14.33-Fu2022 E
LRP2     SSC06968chr2:
170042308-170042308		GAexonicDe novostopgainNM_004525c.C9550Tp.R3184X53.0-Fu2022 E
LRP2     SSC08168chr2:
170012798-170012798		CTexonicDe novononsynonymous SNVNM_004525c.G12137Ap.R4046Q8.986-Fu2022 E
TTN     SSC03561chr2:
179452804-179452804		CTexonicDe novosynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550		c.G36135A
c.G36510A
c.G36711A
c.G55626A
c.G58407A
c.G63330A		p.A12045A
p.A12170A
p.A12237A
p.A18542A
p.A19469A
p.A21110A		-6.664E-5Fu2022 E
NCKAP1     SSC06366chr2:
183791570-183791570		CAexonicDe novostopgainNM_013436
NM_205842		c.G3244T
c.G3262T		p.E1082X
p.E1088X		48.0-Fu2022 E
TTN     SSC10846chr2:
179666976-179666976		GAexonicDe novononsynonymous SNVNM_001256850
NM_001267550
NM_003319
NM_133378
NM_133379
NM_133432
NM_133437		c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T
c.C184T		p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C
p.R62C		18.741.648E-5Fu2022 E
TTN     SSC06404chr2:
179447820-179447820		GTexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550		c.C38515A
c.C38890A
c.C39091A
c.C58006A
c.C60787A
c.C65710A		p.L12839I
p.L12964I
p.L13031I
p.L19336I
p.L20263I
p.L21904I		13.75-Fu2022 E
ALS2     SSC02327chr2:
202571654-202571654		GAexonicDe novononsynonymous SNVNM_020919c.C4495Tp.R1499C22.44.15E-5Fu2022 E
TYW5     SSC06042chr2:
200797909-200797909		GAexonicDe novostopgainNM_001039693c.C829Tp.Q277X38.0-Fu2022 E
NBEAL1     SSC04995chr2:
203972384-203972384		AGexonicDe novosynonymous SNVNM_001114132c.A1335Gp.Q445Q--Fu2022 E
DNAH7     SSC08767chr2:
196759791-196759791		CTexonicDe novononsynonymous SNVNM_018897c.G4805Ap.R1602H33.03.322E-5Fu2022 E
ZSWIM2     SSC10390chr2:
187694548-187694548		TCexonicDe novononsynonymous SNVNM_182521c.A1001Gp.N334S9.779-Fu2022 E
SF3B1     SSC10812chr2:
198274508-198274508		GTexonicDe novononsynonymous SNVNM_012433c.C890Ap.P297H28.1-Fu2022 E
HECW2     SSC03717chr2:
197106887-197106887		GAexonicDe novononsynonymous SNVNM_001304840
NM_020760		c.C2503T
c.C3571T		p.R835W
p.R1191W		18.67-Fu2022 E
FN1     SSC02989chr2:
216245617-216245617		CTexonicDe novononsynonymous SNVNM_002026
NM_212478
NM_001306129
NM_212482		c.G5078A
c.G5078A
c.G5351A
c.G5351A		p.R1693K
p.R1693K
p.R1784K
p.R1784K		16.17-Fu2022 E
STK36     SSC10287chr2:
219562284-219562284		AGexonicDe novononsynonymous SNVNM_001243313
NM_015690		c.A2797G
c.A2860G		p.I933V
p.I954V		7.615-Fu2022 E
FN1     SSC08165chr2:
216251636-216251636		TGexonicDe novononsynonymous SNVNM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482		c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C		p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T		12.02-Fu2022 E
UNC80     SSC04780chr2:
210745771-210745771		CTexonicDe novostopgainNM_032504
NM_182587		c.C4069T
c.C4054T		p.R1357X
p.R1352X		44.0-Fu2022 E
NRP2     SSC08761chr2:
206617656-206617656		CTexonicDe novosynonymous SNVNM_003872
NM_018534
NM_201266
NM_201267
NM_201279		c.C2001T
c.C2001T
c.C2001T
c.C2001T
c.C2001T		p.T667T
p.T667T
p.T667T
p.T667T
p.T667T		--Fu2022 E
UNC80     SSC10614chr2:
210824419-210824419		ACexonicDe novononsynonymous SNVNM_032504
NM_182587		c.A7595C
c.A7580C		p.K2532T
p.K2527T		26.3-Fu2022 E
SP110     SSC10053chr2:
231035373-231035373		CTexonicDe novononsynonymous SNVNM_004509
NM_080424		c.G1920A
c.G1992A		p.M640I
p.M664I		9.184-Fu2022 E
TRIP12     SSC06111chr2:
230701696-230701696		GAexonicDe novostopgainNM_001284216
NM_001284215
NM_004238
NM_001284214		c.C103T
c.C1012T
c.C1012T
c.C1138T		p.R35X
p.R338X
p.R338X
p.R380X		38.0-Fu2022 E
MTERF4     SSC09403chr2:
242035720-242035720		TAexonicDe novononsynonymous SNVNM_182501c.A839Tp.K280M17.22-Fu2022 E
AGAP1     SSC02254chr2:
237029030-237029030		GAexonicDe novononsynonymous SNVNM_014914
NM_001037131		c.G2150A
c.G2309A		p.R717H
p.R770H		35.01.729E-5Fu2022 E
SLC6A1     SSC10931chr3:
11076337-11076337		GAexonicDe novononsynonymous SNVNM_003042c.G1648Ap.G550R15.95-Fu2022 E
SLC6A1     SSC09465chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Fu2022 E
HRH1     SSC02441chr3:
11300939-11300939		GAexonicDe novosynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861		c.G216A
c.G216A
c.G216A
c.G216A		p.A72A
p.A72A
p.A72A
p.A72A		-8.247E-6Fu2022 E
GRM7     SSC02938chr3:
7620458-7620458		GAexonicDe novononsynonymous SNVNM_000844
NM_181874		c.G1865A
c.G1865A		p.R622Q
p.R622Q		24.58.238E-6Fu2022 E
BRPF1     SSC00075chr3:
9781299-9781299		TCexonicDe novononsynonymous SNVNM_001003694
NM_004634		c.T1216C
c.T1216C		p.Y406H
p.Y406H		13.13-Fu2022 E
GOLGA4     SSC04693chr3:
37369172-37369172		TCexonicDe novononsynonymous SNVNM_002078
NM_001172713		c.T5795C
c.T5861C		p.L1932S
p.L1954S		15.83-Fu2022 E
NUP210     SSC05882chr3:
13367336-13367336		CAexonicDe novononsynonymous SNVNM_024923c.G4603Tp.V1535F9.885-Fu2022 E
TSEN2     SSC06956chr3:
12570418-12570418		TCexonicDe novosynonymous SNVNM_001145393
NM_001145395
NM_001145392
NM_025265
NM_001145394		c.T1053C
c.T1053C
c.T1131C
c.T1131C
c.T954C		p.H351H
p.H351H
p.H377H
p.H377H
p.H318H		--Fu2022 E
SATB1     NP119chr3:
18436215-18436215		TCexonicDe novosynonymous SNVNM_001131010
NM_001195470
NM_002971		c.A945G
c.A945G
c.A945G		p.Q315Q
p.Q315Q
p.Q315Q		-1.647E-5Fu2022 E
CTNNB1     SSC04950chr3:
41275346-41275346		GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904		c.G1512A
c.G1512A
c.G1512A		p.W504X
p.W504X
p.W504X		42.0-Fu2022 E
ZNF620     SSC02395chr3:
40553954-40553954		CAexonicDe novosynonymous SNVNM_175888c.C213Ap.G71G--Fu2022 E
ZNF662     SSC00240chr3:
42956561-42956561		CTexonicDe novosynonymous SNVNM_001134656
NM_207404		c.C1074T
c.C996T		p.Y358Y
p.Y332Y		-4.121E-5Fu2022 E
SEC22C     SSC00624chr3:
42610365-42610365		AGexonicDe novosynonymous SNVNM_001201572
NM_001201584
NM_004206
NM_032970		c.T174C
c.T174C
c.T174C
c.T174C		p.F58F
p.F58F
p.F58F
p.F58F		--Fu2022 E
TTC21A     SSC06038chr3:
39170415-39170415		GCexonicDe novononsynonymous SNVNM_001105513
NM_145755		c.G1765C
c.G1909C		p.G589R
p.G637R		28.0-Fu2022 E
SCN11A     SSC04895chr3:
38892193-38892193		TGexonicDe novononsynonymous SNVNM_014139
NM_001287223		c.A4106C
c.A4106C		p.D1369A
p.D1369A		21.7-Fu2022 E
NBEAL2     SSC00403chr3:
47049651-47049651		TGexonicDe novononsynonymous SNVNM_015175c.T7694Gp.L2565R23.2-Fu2022 E
ZNF445     SSC05973chr3:
44488908-44488908		GAexonicDe novononsynonymous SNVNM_181489c.C2255Tp.P752L15.78-Fu2022 E
CCR3     SSC10290chr3:
46307387-46307387		GAexonicDe novosynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328		c.G738A
c.G792A
c.G738A
c.G801A		p.A246A
p.A264A
p.A246A
p.A267A		-9.068E-5Fu2022 E
LSMEM2     SSC07901chr3:
50324003-50324003		CGexonicDe novononsynonymous SNVNM_001304385
NM_153215		c.C160G
c.C160G		p.L54V
p.L54V		17.3-Fu2022 E
TUSC2     SSC09054chr3:
50363828-50363828		CTexonicDe novononsynonymous SNVNM_007275c.G227Ap.R76Q18.066.597E-5Fu2022 E
PLXNB1     SSC05224chr3:
48464316-48464316		GAexonicDe novononsynonymous SNVNM_001130082
NM_002673		c.C1148T
c.C1148T		p.P383L
p.P383L		24.8-Fu2022 E
LAMB2     SSC06932chr3:
49170257-49170257		GAexonicDe novononsynonymous SNVNM_002292c.C44Tp.P15L12.39-Fu2022 E
CELSR3     SSC06501chr3:
48682259-48682259		GAexonicDe novononsynonymous SNVNM_001407c.C7975Tp.L2659F23.4-Fu2022 E
CACNA1D     SSC07798chr3:
53707152-53707152		GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840		c.G1219A
c.G1219A		p.G407R
p.G407R		20.8-Fu2022 E
CACNA2D3     SSC08101chr3:
54921984-54921984		AGsplicingDe novosplicing17.81-Fu2022 E
ROBO1     SSC06268chr3:
78685134-78685134		AGexonicDe novosynonymous SNVNM_133631
NM_002941		c.T3027C
c.T3162C		p.N1009N
p.N1054N		--Fu2022 E
FOXP1     SSC00370chr3:
71026115-71026115		GAexonicDe novostopgainNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.C1207T
c.C1279T
c.C1513T
c.C1507T
c.C1507T
c.C1504T
c.C1507T
c.C1507T		p.R403X
p.R427X
p.R505X
p.R503X
p.R503X
p.R502X
p.R503X
p.R503X		37.0-Fu2022 E
TBC1D23     SSC06608chr3:
100015120-100015120		GCsplicingDe novosplicing19.61-Fu2022 E
PROS1     SSC08292chr3:
93619708-93619708		CTexonicDe novononsynonymous SNVNM_000313
NM_001314077		c.G667A
c.G763A		p.D223N
p.D255N		16.89-Fu2022 E
KCTD6     SSC08549chr3:
58487140-58487140		GCexonicDe novononsynonymous SNVNM_153331
NM_001128214		c.G495C
c.G495C		p.K165N
p.K165N		13.3-Fu2022 E
ASB14     SSC08463chr3:
57314402-57314402		CGexonicDe novononsynonymous SNVNM_001142733c.G815Cp.G272A21.3-Fu2022 E
TMF1     SSC11115chr3:
69078988-69078988		TCexonicDe novononsynonymous SNVNM_007114c.A2572Gp.K858E13.23-Fu2022 E
SUCLG2     SSC09449chr3:
67578618-67578618		GAexonicDe novostopgainNM_001177599
NM_003848		c.C355T
c.C355T		p.Q119X
p.Q119X		38.0-Fu2022 E
POLQ     SSC06885chr3:
121209103-121209103		AGexonicDe novononsynonymous SNVNM_199420c.T2675Cp.V892A14.23-Fu2022 E
CSTA     SSC07492chr3:
122060292-122060292		GAexonicDe novononsynonymous SNVNM_005213c.G175Ap.A59T12.61-Fu2022 E
DZIP3     SSC04703chr3:
108405377-108405377		TGexonicDe novononsynonymous SNVNM_014648c.T3095Gp.M1032R7.046-Fu2022 E
POPDC2     SSC04535chr3:
119367114-119367114		GAexonicDe novosynonymous SNVNM_001308333
NM_022135		c.C1002T
c.C1002T		p.G334G
p.G334G		--Fu2022 E
NEK11     SSC10929chr3:
130884303-130884303		CTexonicDe novosynonymous SNVNM_001146003
NM_024800
NM_145910		c.C1116T
c.C1116T
c.C1116T		p.S372S
p.S372S
p.S372S		--Fu2022 E
RAB43     SSC07461chr3:
128813981-128813981		CTexonicDe novononsynonymous SNVNM_001204887
NM_198490
NM_001204883
NM_001204884
NM_001204885
NM_001204886
NM_001204890		c.G236A
c.G236A
c.G236A
c.G236A
c.G236A
c.G236A
c.G883A		p.R79Q
p.R79Q
p.R79Q
p.R79Q
p.R79Q
p.R79Q
p.G295S		35.0-Fu2022 E
ADCY5     SSC05372chr3:
123049782-123049782		CTexonicDe novononsynonymous SNVNM_001199642
NM_183357		c.G550A
c.G1600A		p.A184T
p.A534T		37.0-Fu2022 E
NMNAT3     SSC08243chr3:
139280174-139280174		TCexonicDe novononsynonymous SNVNM_001200047
NM_178177		c.A170G
c.A326G		p.N57S
p.N109S		13.51-Fu2022 E
EPHB1     SSC05396chr3:
134968233-134968233		GAexonicDe novononsynonymous SNVNM_004441c.G2746Ap.V916M32.02.49E-5Fu2022 E
BCHE     SSC07880chr3:
165547525-165547525		ACexonicDe novononsynonymous SNVNM_000055c.T1297Gp.F433V11.96-Fu2022 E
SAMD7     SSC07370chr3:
169644647-169644647		GCexonicDe novononsynonymous SNVNM_001304366
NM_182610		c.G597C
c.G597C		p.E199D
p.E199D		1.534-Fu2022 E
MYNN     SSC09383chr3:
169500345-169500345		CTexonicDe novononsynonymous SNVNM_001185119
NM_018657
NM_001185118		c.C1313T
c.C1313T
c.C1313T		p.T438I
p.T438I
p.T438I		13.5-Fu2022 E
MBNL1     SSC06966chr3:
152018116-152018116		TCexonicDe novononsynonymous SNVNM_207293
NM_207294
NM_207295
NM_207296
NM_207297
NM_021038
NM_207292		c.T134C
c.T134C
c.T134C
c.T134C
c.T134C
c.T134C
c.T134C		p.V45A
p.V45A
p.V45A
p.V45A
p.V45A
p.V45A
p.V45A		15.52-Fu2022 E
PLOD2     SSC03717chr3:
145799604-145799604		TCexonicDe novononsynonymous SNVNM_000935
NM_182943		c.A1279G
c.A1279G		p.N427D
p.N427D		29.7-Fu2022 E
SLC33A1     SSC06611chr3:
155551287-155551287		GAexonicDe novosynonymous SNVNM_001190992
NM_004733		c.C1236T
c.C1236T		p.I412I
p.I412I		8.127-Fu2022 E
ATP11B     SSC00057chr3:
182607238-182607238		CGexonicDe novononsynonymous SNVNM_014616c.C2884Gp.L962V12.11-Fu2022 E
SOX2     SSC09782chr3:
181430427-181430427		GAexonicDe novosynonymous SNVNM_003106c.G279Ap.E93E--Fu2022 E
AP2M1     SSC10837chr3:
183899699-183899699		GCsplicingDe novosplicing15.38-Fu2022 E
TNIK     SSC07587chr3:
170783991-170783991		AGexonicDe novosynonymous SNVNM_001161566
NM_001161562
NM_001161564
NM_001161565
NM_001161560
NM_001161561
NM_001161563
NM_015028		c.T3708C
c.T3873C
c.T3795C
c.T3732C
c.T3960C
c.T3897C
c.T3819C
c.T3984C		p.C1236C
p.C1291C
p.C1265C
p.C1244C
p.C1320C
p.C1299C
p.C1273C
p.C1328C		--Fu2022 E
EIF5A2     SSC08364chr3:
170612204-170612204		GAexonicDe novosynonymous SNVNM_020390c.C279Tp.C93C--Fu2022 E
PEX5L     SSC06970chr3:
179605524-179605524		CTexonicDe novononsynonymous SNVNM_001256753
NM_001256751
NM_001256752
NM_001256750
NM_001256754
NM_001256755
NM_016559		c.G70A
c.G175A
c.G142A
c.G241A
c.G118A
c.G118A
c.G247A		p.D24N
p.D59N
p.D48N
p.D81N
p.D40N
p.D40N
p.D83N		36.08.237E-6Fu2022 E
MUC4     SSC08609chr3:
195507684-195507684		GAexonicDe novosynonymous SNVNM_018406c.C10767Tp.D3589D-6.184E-5Fu2022 E
TMEM41A     SSC05945chr3:
185209431-185209431		AGexonicDe novononsynonymous SNVNM_080652c.T689Cp.M230T15.01-Fu2022 E
KNG1     SSC09521chr3:
186460067-186460067		AGexonicDe novononsynonymous SNVNM_001102416c.A1882Gp.T628A11.34-Fu2022 E
SLC26A1     SSC04588chr4:
983823-983823		CAexonicDe novononsynonymous SNVNM_022042
NM_213613		c.G904T
c.G904T		p.A302S
p.A302S		17.21-Fu2022 E
PIGG     SSC04349chr4:
517523-517523		CTexonicDe novosynonymous SNVNM_001289052
NM_001127178
NM_001289051
NM_017733		c.C1491T
c.C1890T
c.C1623T
c.C1866T		p.V497V
p.V630V
p.V541V
p.V622V		-1.654E-5Fu2022 E
TM4SF19       SSC06202chr3:
196053904-196053904		CTsplicingDe novosplicing11.38-Fu2022 E
LRPAP1     SSC09929chr4:
3516547-3516547		CTexonicDe novononsynonymous SNVNM_002337c.G943Ap.E315K19.494.143E-5Fu2022 E
GRK4     SSC03679chr4:
3031020-3031020		CGexonicDe novononsynonymous SNVNM_001004056
NM_005307
NM_001004057
NM_182982		c.C1057G
c.C1057G
c.C1153G
c.C1153G		p.P353A
p.P353A
p.P385A
p.P385A		24.9-Fu2022 E
LETM1     SSC10855chr4:
1843426-1843426		CAexonicDe novononsynonymous SNVNM_012318c.G242Tp.R81L4.138-Fu2022 E
FAM200B     SSC04771chr4:
15689874-15689874		GAexonicDe novostopgainNM_001145191c.G1274Ap.W425X41.0-Fu2022 E
BOD1L1     SSC11758chr4:
13584354-13584354		TCexonicDe novononsynonymous SNVNM_148894c.A8440Gp.N2814D10.22-Fu2022 E
EVC2     SSC07302chr4:
5687134-5687134		TCexonicDe novononsynonymous SNVNM_001166136
NM_147127		c.A539G
c.A779G		p.K180R
p.K260R		9.742-Fu2022 E
CPZ     SSC05666chr4:
8620162-8620162		CTexonicDe novononsynonymous SNVNM_003652
NM_001014447
NM_001014448		c.C1477T
c.C1510T
c.C1099T		p.R493W
p.R504W
p.R367W		14.454.126E-5Fu2022 E
KIAA0232     SSC06116chr4:
6843914-6843914		CTexonicDe novostopgainNM_001100590
NM_014743		c.C352T
c.C352T		p.R118X
p.R118X		42.0-Fu2022 E
NSUN7     SSC00624chr4:
40762471-40762471		ACexonicDe novononsynonymous SNVNM_024677c.A319Cp.I107L16.57-Fu2022 E
TLR1     SSC11139chr4:
38798446-38798446		AGexonicDe novosynonymous SNVNM_003263c.T2007Cp.H669H--Fu2022 E
GABRG1     SSC04351chr4:
46125839-46125839		TCexonicDe novononsynonymous SNVNM_173536c.A92Gp.H31R7.5028.372E-6Fu2022 E
C4orf19     SSC06266chr4:
37591786-37591786		GAexonicDe novononsynonymous SNVNM_018302
NM_001104629		c.G109A
c.G109A		p.D37N
p.D37N		15.158.238E-6Fu2022 E
TMPRSS11D     SSC07467chr4:
68693131-68693131		GTexonicDe novononsynonymous SNVNM_004262c.C800Ap.A267E1.85-Fu2022 E
LNX1     SSC10956chr4:
54364903-54364903		CTexonicDe novononsynonymous SNVNM_032622
NM_001126328		c.G595A
c.G883A		p.E199K
p.E295K		34.08.239E-6Fu2022 E
OCIAD1     SSC09521chr4:
48852062-48852062		TGexonicDe novononsynonymous SNVNM_001079839
NM_001079840
NM_001079841
NM_001079842
NM_001168254
NM_017830		c.T340G
c.T340G
c.T340G
c.T340G
c.T355G
c.T340G		p.L114V
p.L114V
p.L114V
p.L114V
p.L119V
p.L114V		17.65-Fu2022 E
KDR     SSC04908chr4:
55968172-55968172		GTexonicDe novosynonymous SNVNM_002253c.C2158Ap.R720R--Fu2022 E
BMP3     SSC03297chr4:
81967605-81967605		CTexonicDe novononsynonymous SNVNM_001201c.C1030Tp.R344W9.241-Fu2022 E
SCARB2     SSC06938chr4:
77100764-77100764		AGexonicDe novononsynonymous SNVNM_005506c.T518Cp.V173A11.75-Fu2022 E
HELQ     SSC02600chr4:
84374563-84374563		TGexonicDe novononsynonymous SNVNM_001297755
NM_001297758
NM_001297759
NM_133636		c.A833C
c.A722C
c.A833C
c.A833C		p.K278T
p.K241T
p.K278T
p.K278T		11.18-Fu2022 E
NPFFR2     SSC00625chr4:
72994491-72994491		GAexonicDe novononsynonymous SNVNM_004885
NM_053036
NM_001144756		c.G489A
c.G183A
c.G192A		p.M163I
p.M61I
p.M64I		8.023-Fu2022 E
SLC4A4     SSC06345chr4:
72352706-72352706		TGexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742		c.T1813G
c.T1945G
c.T1945G		p.Y605D
p.Y649D
p.Y649D		0.008-Fu2022 E
USO1     SSC10662chr4:
76734406-76734406		TCexonicDe novounknown7.388-Fu2022 E
WDFY3     SSC06712chr4:
85719152-85719152		TAexonicDe novostopgainNM_014991c.A2932Tp.R978X45.0-Fu2022 E
TNIP3     SSC08755chr4:
122071336-122071336		GAexonicDe novosynonymous SNVNM_024873
NM_001128843
NM_001244764		c.C531T
c.C741T
c.C762T		p.S177S
p.S247S
p.S254S		-3.301E-5Fu2022 E
SEC24D     SSC06387chr4:
119738546-119738546		GTexonicDe novosynonymous SNVNM_014822c.C270Ap.V90V--Fu2022 E
INPP4B     SSC05058chr4:
143033751-143033751		AGexonicDe novosynonymous SNVNM_001101669
NM_003866		c.T2220C
c.T2220C		p.H740H
p.H740H		--Fu2022 E
NDST4     SSC03263chr4:
115760701-115760701		GAexonicDe novostopgainNM_022569c.C2119Tp.Q707X46.0-Fu2022 E
ANK2     SSC11111chr4:
114275304-114275304		CTexonicDe novononsynonymous SNVNM_001148c.C5530Tp.P1844S14.11-Fu2022 E
SDHA     SSC08246chr5:
251135-251135		GAexonicDe novononsynonymous SNVNM_001294332
NM_004168		c.G1436A
c.G1580A		p.R479H
p.R527H		19.83.295E-5Fu2022 E
FREM3     SSC05051chr4:
144619732-144619732		AGexonicDe novosynonymous SNVNM_001168235c.T2097Cp.D699D--Fu2022 E
NR3C2     SSC08154chr4:
149073677-149073677		GTexonicDe novostopgainNM_001166104
NM_000901		c.C2102A
c.C2453A		p.S701X
p.S818X		43.0-Fu2022 E
ANKH     DEASD_0284_001chr5:
14716885-14716885		GAexonicDe novosynonymous SNVNM_054027c.C1071Tp.I357I--Fu2022 E
PDZD2     SSC10584chr5:
32089331-32089331		CTexonicDe novononsynonymous SNVNM_178140c.C5777Tp.T1926I2.873-Fu2022 E
MYO10     SSC11006chr5:
16672929-16672929		CTexonicDe novosynonymous SNVNM_012334c.G5178Ap.V1726V--Fu2022 E
TPPP     SSC10795chr5:
748569-748569		AGintergenicDe novo11.78-Fu2022 E
TRIO     SSC08153chr5:
14394220-14394220		ATexonicDe novononsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Fu2022 E
OXCT1     SSC06698chr5:
41762252-41762252		CTexonicDe novosynonymous SNVNM_000436c.G1299Ap.A433A-8.239E-6Fu2022 E
ZNF366     SSC06883chr5:
71752302-71752302		TCexonicDe novononsynonymous SNVNM_152625c.A1453Gp.S485G19.26-Fu2022 E
GPBP1     SSC04534chr5:
56545306-56545306		GAexonicDe novononsynonymous SNVNM_001127236
NM_001203246
NM_001127235
NM_022913		c.G896A
c.G362A
c.G851A
c.G875A		p.R299Q
p.R121Q
p.R284Q
p.R292Q		23.6-Fu2022 E
TAF9     SSC03325chr5:
68661075-68661075		TCexonicDe novononsynonymous SNVNM_001015892
NM_003187		c.A490G
c.A490G		p.T164A
p.T164A		10.83-Fu2022 E
TRIM23     SSC06111chr5:
64892348-64892348		CTexonicDe novosynonymous SNVNM_001656
NM_033227
NM_033228		c.G1320A
c.G1320A
c.G1320A		p.V440V
p.V440V
p.V440V		--Fu2022 E
ADGRV1     SSC06607chr5:
89923398-89923398		ATexonicDe novononsynonymous SNVNM_032119c.A1043Tp.D348V25.5-Fu2022 E
ADGRV1     SSC02682chr5:
89949288-89949288		GAexonicDe novononsynonymous SNVNM_032119c.G3897Ap.M1299I15.56-Fu2022 E
AP3B1     SSC04956chr5:
77590359-77590359		CAexonicDe novosynonymous SNVNM_003664c.G45Tp.G15G--Fu2022 E
COL4A3BP     SSC12779chr5:
74721285-74721285		TCexonicDe novononsynonymous SNVNM_005713
NM_031361
NM_001130105		c.A496G
c.A496G
c.A880G		p.T166A
p.T166A
p.T294A		19.53-Fu2022 E
VCAN     SSC05058chr5:
82817065-82817065		GAexonicDe novosynonymous SNVNM_001164098
NM_004385		c.G2940A
c.G2940A		p.K980K
p.K980K		--Fu2022 E
STARD4     SSC09785chr5:
110843072-110843072		CGexonicDe novononsynonymous SNVNM_001308056
NM_001308057
NM_001308058
NM_139164		c.G60C
c.G60C
c.G60C
c.G60C		p.Q20H
p.Q20H
p.Q20H
p.Q20H		15.11-Fu2022 E
PPIP5K2     SSC05971chr5:
102486980-102486980		GCexonicDe novononsynonymous SNVNM_015216
NM_001276277		c.G930C
c.G930C		p.L310F
p.L310F		16.74-Fu2022 E
PAM     SSC09186chr5:
102340877-102340877		TCexonicDe novosynonymous SNVNM_138821
NM_000919
NM_001177306
NM_138766
NM_138822		c.T1429C
c.T1750C
c.T1750C
c.T1750C
c.T1750C		p.L477L
p.L584L
p.L584L
p.L584L
p.L584L		8.333-Fu2022 E
LIX1     SSC08054chr5:
96430657-96430657		CTexonicDe novononsynonymous SNVNM_153234c.G644Ap.R215Q2.952.475E-5Fu2022 E
ANKHD1     SSC01947chr5:
139819806-139819806		CAexonicDe novononsynonymous SNVNM_001197030
NM_017747
NM_017978
NM_020690
NM_024668		c.C720A
c.C720A
c.C687A
c.C720A
c.C720A		p.S240R
p.S240R
p.S229R
p.S240R
p.S240R		19.75-Fu2022 E
PITX1     SSC05162chr5:
134364690-134364690		GAexonicDe novononsynonymous SNVNM_002653c.C724Tp.L242F28.2-Fu2022 E
PCDHA11     SSC10448chr5:
140249739-140249739		GAexonicDe novononsynonymous SNVNM_018902
NM_031861		c.G1051A
c.G1051A		p.V351M
p.V351M		5.932-Fu2022 E
P4HA2     SSC11148chr5:
131549620-131549620		CTexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G458A
c.G458A
c.G458A
c.G458A
c.G458A		p.G153E
p.G153E
p.G153E
p.G153E
p.G153E		29.2-Fu2022 E
P4HA2     SSC07028chr5:
131543433-131543433		TAexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.A1048T
c.A1048T
c.A1048T
c.A1048T
c.A1048T		p.I350F
p.I350F
p.I350F
p.I350F
p.I350F		36.0-Fu2022 E
HSPA4     SSC05051chr5:
132403139-132403139		GAexonicDe novononsynonymous SNVNM_002154c.G196Ap.G66R28.3-Fu2022 E
AFF4     SSC05143chr5:
132223552-132223552		CTexonicDe novosynonymous SNVNM_014423c.G2919Ap.T973T-8.319E-6Fu2022 E
PCDHB16     SSC01947chr5:
140563150-140563150		ATexonicDe novononsynonymous SNVNM_020957c.A1016Tp.D339V15.17-Fu2022 E
SH3TC2     SSC06431chr5:
148422396-148422396		GAexonicDe novosynonymous SNVNM_024577c.C390Tp.Y130Y-4.119E-5Fu2022 E
RBM27       SSC07063chr5:
145613205-145613205		GAexonicDe novononsynonymous SNVNM_018989c.G1043Ap.G348D17.39-Fu2022 E
HMGXB3     SSC06297chr5:
149390017-149390017		CTexonicDe novononsynonymous SNVNM_014983c.C656Tp.A219V17.36-Fu2022 E
AFAP1L1     SSC06985chr5:
148699277-148699277		CTexonicDe novononsynonymous SNVNM_001146337
NM_152406		c.C1612T
c.C1612T		p.R538C
p.R538C		21.61.739E-5Fu2022 E
PCDHGB1     SSC04165chr5:
140732011-140732011		CTexonicDe novosynonymous SNVNM_018922
NM_032095		c.C2184T
c.C2184T		p.C728C
p.C728C		--Fu2022 E
RBM27       SSC06431chr5:
145603023-145603023		CTexonicDe novononsynonymous SNVNM_018989c.C236Tp.P79L19.02-Fu2022 E
CCNJL     SSC12506chr5:
159686714-159686714		CAexonicDe novosynonymous SNVNM_001308173
NM_024565		c.G345T
c.G489T		p.L115L
p.L163L		--Fu2022 E
CCNJL     SSC09043chr5:
159686641-159686641		AGexonicDe novononsynonymous SNVNM_001308173
NM_024565		c.T418C
c.T562C		p.W140R
p.W188R		24.1-Fu2022 E
ADAM19     SSC11163chr5:
156929856-156929856		GAexonicDe novosynonymous SNVNM_033274c.C1263Tp.N421N--Fu2022 E
ZNF454     SSC03622chr5:
178373955-178373955		TCexonicDe novononsynonymous SNVNM_001178089
NM_001178090
NM_182594		c.T218C
c.T218C
c.T218C		p.M73T
p.M73T
p.M73T		5.415-Fu2022 E
HIGD2A     SSC04465chr5:
175816383-175816383		GAexonicDe novononsynonymous SNVNM_138820c.G206Ap.R69Q5.108-Fu2022 E
HRH2     SSC04693chr5:
175110636-175110636		CTexonicDe novononsynonymous SNVNM_022304
NM_001131055		c.C400T
c.C400T		p.R134W
p.R134W		17.52-Fu2022 E
FAF2     SSC10830chr5:
175921055-175921055		AGexonicDe novononsynonymous SNVNM_014613c.A539Gp.D180G19.75-Fu2022 E
ECI2     SSC08042chr6:
4116240-4116240		TAexonicDe novosynonymous SNVNM_001166010
NM_006117
NM_206836		c.A963T
c.A963T
c.A1053T		p.V321V
p.V321V
p.V351V		--Fu2022 E
SLC22A23     SSC05931chr6:
3273379-3273379		CTexonic