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Results for "Marques2022"

Variant Events: 297

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
EXOSC10     Marques2022:6chr1:
11147924-11147924		GAexonicnonsynonymous SNVNM_001001998
NM_002685		c.C878T
c.C878T		p.S293F
p.S293F		17.588.251E-6Marques2022 ET
EXOSC10     Marques2022:5chr1:
11147872-11147872		ACexonicnonsynonymous SNVNM_001001998
NM_002685		c.T930G
c.T930G		p.F310L
p.F310L		15.12-Marques2022 ET
EXOSC10     Marques2022:8chr1:
11155907-11155907		GAexonicnonsynonymous SNVNM_001001998
NM_002685		c.C280T
c.C280T		p.R94C
p.R94C		22.78.237E-6Marques2022 ET
EXOSC10     Marques2022:7chr1:
11147945-11147945		GAexonicnonsynonymous SNVNM_001001998
NM_002685		c.C857T
c.C857T		p.T286I
p.T286I		17.83-Marques2022 ET
EXOSC10     Marques2022:2chr1:
11140876-11140877		GAGexonicframeshift deletionNM_001001998
NM_002685		c.1530delT
c.1530delT		p.F510fs
p.F510fs		--Marques2022 ET
EXOSC10     Marques2022:1chr1:
11140608-11140608		TCsplicingsplicing14.928.425E-6Marques2022 ET
EXOSC10     Marques2022:4chr1:
11147637-11147637		GTexonicstopgainNM_001001998
NM_002685		c.C957A
c.C957A		p.Y319X
p.Y319X		36.0-Marques2022 ET
EXOSC10     Marques2022:3chr1:
11141171-11141171		CTexonicnonsynonymous SNVNM_001001998
NM_002685		c.G1405A
c.G1405A		p.V469M
p.V469M		35.0-Marques2022 ET
SMG5     Marques2022:14chr1:
156231165-156231165		AGexonicnonsynonymous SNVNM_015327c.T2066Cp.L689S28.6-Marques2022 ET
SMG5     Marques2022:13chr1:
156228924-156228924		AGexonicnonsynonymous SNVNM_015327c.T2314Cp.F772L32.0-Marques2022 ET
SMG5     Marques2022:16chr1:
156233299-156233299		GAexonicnonsynonymous SNVNM_015327c.C1918Tp.R640C21.55.781E-5Marques2022 ET
SMG5     Marques2022:15chr1:
156231189-156231189		CGexonicnonsynonymous SNVNM_015327c.G2042Cp.S681T25.61.65E-5Marques2022 ET
MOV10     Marques2022:10chr1:
113232525-113232525		TCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.T641C
c.T641C
c.T473C		p.V214A
p.V214A
p.V158A		25.8-Marques2022 ET
MOV10     Marques2022:9chr1:
113232272-113232272		GCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G577C
c.G577C
c.G409C		p.G193R
p.G193R
p.G137R		18.05-Marques2022 ET
SMG5     Marques2022:12chr1:
156220780-156220780		AGexonicnonsynonymous SNVNM_015327c.T2836Cp.Y946H21.41.0E-4Marques2022 ET
MOV10     Marques2022:11chr1:
113240930-113240930		GAexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G2338A
c.G2338A
c.G2170A		p.G780S
p.G780S
p.G724S		29.4-Marques2022 ET
SMG5     Marques2022:22chr1:
156244418-156244418		GAexonicnonsynonymous SNVNM_015327c.C514Tp.H172Y19.391.647E-5Marques2022 ET
SMG5     Marques2022:21chr1:
156237971-156237971		ACexonicnonsynonymous SNVNM_015327c.T843Gp.C281W17.277.0E-4Marques2022 ET
SMG7     Marques2022:24chr1:
183495800-183495800		ATexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.A256T
c.A382T
c.A382T
c.A382T		p.I86F
p.I128F
p.I128F
p.I128F		21.8-Marques2022 ET
SMG7     Marques2022:23chr1:
183485030-183485030		AGexonicnonsynonymous SNVNM_173156
NM_201568
NM_201569		c.A83G
c.A83G
c.A83G		p.E28G
p.E28G
p.E28G		31.0-Marques2022 ET
SMG5     Marques2022:18chr1:
156235857-156235857		CTexonicnonsynonymous SNVNM_015327c.G1570Ap.D524N29.08.239E-6Marques2022 ET
SMG5     Marques2022:17chr1:
156235692-156235692		GAexonicnonsynonymous SNVNM_015327c.C1735Tp.R579C25.7-Marques2022 ET
SMG5     Marques2022:20chr1:
156236048-156236048		CTexonicnonsynonymous SNVNM_015327c.G1379Ap.R460H28.68.244E-6Marques2022 ET
SMG5     Marques2022:19chr1:
156235910-156235910		GAexonicnonsynonymous SNVNM_015327c.C1517Tp.T506M27.34.944E-5Marques2022 ET
SMG7     Marques2022:30chr1:
183514391-183514391		ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.A2188C
c.A2314C
c.A2176C
c.A2176C		p.T730P
p.T772P
p.T726P
p.T726P		21.94.961E-5Marques2022 ET
SMG7     Marques2022:29chr1:
183514098-183514098		CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.C1895A
c.C2021A
c.C1883A
c.C1883A		p.P632H
p.P674H
p.P628H
p.P628H		22.30.004Marques2022 ET
SMG7     Marques2022:32chr1:
183519894-183519894		AGexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.A3016G
c.A2992G
c.A2854G
c.A3004G		p.T1006A
p.T998A
p.T952A
p.T1002A		24.2-Marques2022 ET
SMG7     Marques2022:31chr1:
183518978-183518978		CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.C2927T
c.C2903T
c.C2765T
c.C2915T		p.P976L
p.P968L
p.P922L
p.P972L		18.4-Marques2022 ET
SMG7     Marques2022:26chr1:
183511350-183511350		GCexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.G1429C
c.G1555C
c.G1555C
c.G1555C		p.G477R
p.G519R
p.G519R
p.G519R		23.83.0E-4Marques2022 ET
SMG7     Marques2022:25chr1:
183498535-183498535		GAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.G584A
c.G710A
c.G710A
c.G710A		p.R195Q
p.R237Q
p.R237Q
p.R237Q		23.81.0E-4Marques2022 ET
SMG7     Marques2022:28chr1:
183514098-183514098		CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.C1895A
c.C2021A
c.C1883A
c.C1883A		p.P632H
p.P674H
p.P628H
p.P628H		22.30.004Marques2022 ET
SMG7     Marques2022:27chr1:
183513518-183513518		CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.C1747T
c.C1873T
c.C1735T
c.C1735T		p.P583S
p.P625S
p.P579S
p.P579S		21.48.249E-6Marques2022 ET
GNL2     Marques2022:38chr1:
38040295-38040295		GAexonicnonsynonymous SNVNM_013285c.C1273Tp.L425F22.4-Marques2022 ET
GNL2     Marques2022:37chr1:
38032607-38032607		CTexonicnonsynonymous SNVNM_013285c.G2045Ap.R682Q23.40.0012Marques2022 ET
GNL2     Marques2022:40chr1:
38048426-38048426		GTexonicnonsynonymous SNVNM_013285c.C748Ap.L250I20.5-Marques2022 ET
GNL2     Marques2022:39chr1:
38048425-38048425		AGexonicnonsynonymous SNVNM_013285c.T749Cp.L250P26.3-Marques2022 ET
SMG7     Marques2022:34chr1:
183520048-183520048		ATexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.A3170T
c.A3146T
c.A3008T
c.A3158T		p.D1057V
p.D1049V
p.D1003V
p.D1053V		23.50.0022Marques2022 ET
SMG7     Marques2022:33chr1:
183520043-183520043		ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.A3165C
c.A3141C
c.A3003C
c.A3153C		p.K1055N
p.K1047N
p.K1001N
p.K1051N		18.545.0E-4Marques2022 ET
GNL2     Marques2022:36chr1:
38032584-38032584		GAexonicnonsynonymous SNVNM_013285c.C2068Tp.R690W15.275.768E-5Marques2022 ET
SMG7     Marques2022:35chr1:
183520216-183520216		CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.C3215T
c.C3191T
c.C3053T
c.C3203T		p.T1072M
p.T1064M
p.T1018M
p.T1068M		17.059.068E-5Marques2022 ET
GNL2     Marques2022:46chr1:
38056362-38056362		AGexonicnonsynonymous SNVNM_013285c.T329Cp.V110A32.0-Marques2022 ET
GNL2     Marques2022:45chr1:
38056336-38056336		AGexonicnonsynonymous SNVNM_013285c.T355Cp.S119P26.4-Marques2022 ET
GNL2     Marques2022:48chr1:
38059364-38059364		TCexonicnonsynonymous SNVNM_013285c.A148Gp.R50G22.46.602E-5Marques2022 ET
GNL2     Marques2022:47chr1:
38058381-38058381		GAexonicnonsynonymous SNVNM_013285c.C176Tp.P59L19.213.0E-4Marques2022 ET
GNL2     Marques2022:42chr1:
38049504-38049504		CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:41chr1:
38049504-38049504		CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:44chr1:
38053077-38053077		ACexonicnonsynonymous SNVNM_013285c.T404Gp.L135R17.78.274E-6Marques2022 ET
GNL2     Marques2022:43chr1:
38053027-38053027		GAexonicstopgainNM_013285c.C454Tp.R152X35.0-Marques2022 ET
MAGOHB     Marques2022:54chr12:
10766088-10766088		TAexonicnonsynonymous SNVNM_018048c.A44Tp.H15L27.9-Marques2022 ET
UPF2     Marques2022:53chr10:
12071255-12071255		CTexonicnonsynonymous SNVNM_015542
NM_080599		c.G634A
c.G634A		p.A212T
p.A212T		29.84.985E-5Marques2022 ET
UPF3A     Marques2022:56chr13:
115048398-115048398		AGexonicnonsynonymous SNVNM_023011
NM_080687		c.A401G
c.A401G		p.Y134C
p.Y134C		15.713.0E-4Marques2022 ET
UPF3A     Marques2022:55chr13:
115048328-115048328		TCexonicnonsynonymous SNVNM_023011
NM_080687		c.T331C
c.T331C		p.Y111H
p.Y111H		22.9-Marques2022 ET
UPF2     Marques2022:50chr10:
12021166-12021166		TCsplicingsplicing24.0-Marques2022 ET
UPF2     Marques2022:49chr10:
11998335-11998335		AGexonicnonsynonymous SNVNM_015542
NM_080599		c.T2558C
c.T2558C		p.I853T
p.I853T		21.88.246E-6Marques2022 ET
UPF2     Marques2022:52chr10:
12071235-12071235		ATexonicnonsynonymous SNVNM_015542
NM_080599		c.T654A
c.T654A		p.D218E
p.D218E		18.149.0E-4Marques2022 ET
UPF2     Marques2022:51chr10:
12071235-12071235		ATexonicnonsynonymous SNVNM_015542
NM_080599		c.T654A
c.T654A		p.D218E
p.D218E		18.149.0E-4Marques2022 ET
UPF3A     Marques2022:62chr13:
115067205-115067205		GCsplicingsplicing10.15-Marques2022 ET
UPF3A     Marques2022:61chr13:
115057122-115057122		AGexonicnonsynonymous SNVNM_080687
NM_023011		c.A602G
c.A701G		p.E201G
p.E234G		23.6-Marques2022 ET
DIS3L     Marques2022:64chr15:
66607419-66607419		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G860A
c.G611A		p.R287H
p.R204H		36.0-Marques2022 ET
UPF3A     Marques2022:63chr13:
115067318-115067318		GAexonicnonsynonymous SNVNM_080687
NM_023011		c.G1021A
c.G1120A		p.E341K
p.E374K		14.711.775E-5Marques2022 ET
UPF3A     Marques2022:58chr13:
115051869-115051869		GAexonicnonsynonymous SNVNM_023011c.G514Ap.E172K34.01.0E-4Marques2022 ET
UPF3A     Marques2022:57chr13:
115048398-115048398		AGexonicnonsynonymous SNVNM_023011
NM_080687		c.A401G
c.A401G		p.Y134C
p.Y134C		15.713.0E-4Marques2022 ET
UPF3A     Marques2022:60chr13:
115057018-115057018		AGexonicnonsynonymous SNVNM_080687
NM_023011		c.A587G
c.A686G		p.Q196R
p.Q229R		25.5-Marques2022 ET
UPF3A     Marques2022:59chr13:
115052084-115052084		CTexonicnonsynonymous SNVNM_080687
NM_023011		c.C512T
c.C611T		p.A171V
p.A204V		19.860.0015Marques2022 ET
DIS3L     Marques2022:70chr15:
66615886-66615886		AGexonicnonsynonymous SNVNM_001143688
NM_133375		c.A1630G
c.A1381G		p.S544G
p.S461G		17.61-Marques2022 ET
DIS3L     Marques2022:69chr15:
66615859-66615859		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1603T
c.C1354T		p.R535C
p.R452C		18.59.06E-5Marques2022 ET
DIS3L     Marques2022:72chr15:
66618395-66618395		CGexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1894G
c.C1645G		p.L632V
p.L549V		15.39-Marques2022 ET
DIS3L     Marques2022:71chr15:
66618278-66618278		GCexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1777C
c.G1528C		p.A593P
p.A510P		28.8-Marques2022 ET
DIS3L     Marques2022:66chr15:
66612931-66612931		TGexonicnonsynonymous SNVNM_001143688
NM_133375		c.T1187G
c.T938G		p.I396S
p.I313S		27.3-Marques2022 ET
DIS3L     Marques2022:65chr15:
66612927-66612927		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C1183T
c.C934T		p.R395C
p.R312C		26.11.0E-4Marques2022 ET
DIS3L     Marques2022:68chr15:
66615092-66615092		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1394A
c.G1145A		p.R465H
p.R382H		19.062.471E-5Marques2022 ET
DIS3L     Marques2022:67chr15:
66612933-66612933		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G1189A
c.G940A		p.D397N
p.D314N		35.0-Marques2022 ET
GSPT1     Marques2022:78chr16:
11970019-11970019		TCexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094		c.A1613G
c.A1202G
c.A1616G		p.E538G
p.E401G
p.E539G		23.8-Marques2022 ET
GSPT1     Marques2022:77chr16:
11969662-11969662		AGexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094		c.T1814C
c.T1403C
c.T1817C		p.F605S
p.F468S
p.F606S		22.7-Marques2022 ET
GSPT1     Marques2022:80chr16:
11980731-11980731		TCexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094		c.A1012G
c.A601G
c.A1015G		p.R338G
p.R201G
p.R339G		19.63-Marques2022 ET
GSPT1     Marques2022:79chr16:
11976936-11976936		ATexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094		c.T1361A
c.T950A
c.T1364A		p.V454D
p.V317D
p.V455D		25.1-Marques2022 ET
DIS3L     Marques2022:74chr15:
66621325-66621325		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C2219T
c.C1970T		p.A740V
p.A657V		31.08.263E-6Marques2022 ET
DIS3L     Marques2022:73chr15:
66621325-66621325		CTexonicnonsynonymous SNVNM_001143688
NM_133375		c.C2219T
c.C1970T		p.A740V
p.A657V		31.08.263E-6Marques2022 ET
DIS3L     Marques2022:76chr15:
66621382-66621382		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G2276A
c.G2027A		p.R759H
p.R676H		26.60.0061Marques2022 ET
DIS3L     Marques2022:75chr15:
66621382-66621382		GAexonicnonsynonymous SNVNM_001143688
NM_133375		c.G2276A
c.G2027A		p.R759H
p.R676H		26.60.0061Marques2022 ET
PARN     Marques2022:86chr16:
14723475-14723475		CTexonicnonsynonymous SNVNM_001242992
NM_002582		c.G76A
c.G76A		p.A26T
p.A26T		24.91.658E-5Marques2022 ET
PARN     Marques2022:85chr16:
14704500-14704500		CTsplicingsplicing20.8-Marques2022 ET
SMG1     Marques2022:88chr16:
18840681-18840681		CTexonicnonsynonymous SNVNM_015092c.G9530Ap.R3177Q25.11.658E-5Marques2022 ET
SMG1     Marques2022:87chr16:
18827703-18827703		AGexonicnonsynonymous SNVNM_015092c.T10223Cp.V3408A22.5-Marques2022 ET
PARN     Marques2022:82chr16:
14576552-14576552		CGexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582		c.G1475C
c.G1430C
c.G1613C		p.R492P
p.R477P
p.R538P		19.548.292E-5Marques2022 ET
PARN     Marques2022:81chr16:
14576541-14576541		GAexonicstopgainNM_001242992
NM_001134477
NM_002582		c.C1486T
c.C1441T
c.C1624T		p.Q496X
p.Q481X
p.Q542X		21.6-Marques2022 ET
PARN     Marques2022:84chr16:
14700381-14700381		TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582		c.A524G
c.A479G
c.A662G		p.Y175C
p.Y160C
p.Y221C		17.31.959E-5Marques2022 ET
PARN     Marques2022:83chr16:
14676079-14676079		TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582		c.A1013G
c.A968G
c.A1151G		p.Y338C
p.Y323C
p.Y384C		18.632.484E-5Marques2022 ET
SMG1     Marques2022:94chr16:
18847451-18847451		CGexonicnonsynonymous SNVNM_015092c.G7861Cp.G2621R18.861.151E-5Marques2022 ET
SMG1     Marques2022:93chr16:
18846365-18846365		GAexonicnonsynonymous SNVNM_015092c.C8179Tp.R2727C19.63-Marques2022 ET
SMG1     Marques2022:96chr16:
18851024-18851024		GAexonicnonsynonymous SNVNM_015092c.C6941Tp.T2314M20.71.658E-5Marques2022 ET
SMG1     Marques2022:95chr16:
18849539-18849539		GAexonicnonsynonymous SNVNM_015092c.C7210Tp.R2404W17.953.838E-5Marques2022 ET
SMG1     Marques2022:90chr16:
18841262-18841262		GTexonicnonsynonymous SNVNM_015092c.C9119Ap.S3040Y18.33-Marques2022 ET
SMG1     Marques2022:89chr16:
18840721-18840721		TCexonicnonsynonymous SNVNM_015092c.A9490Gp.S3164G14.88.283E-6Marques2022 ET
SMG1     Marques2022:92chr16:
18845710-18845710		AGexonicnonsynonymous SNVNM_015092c.T8381Cp.V2794A17.411.715E-5Marques2022 ET
SMG1     Marques2022:91chr16:
18844365-18844365		CAexonicnonsynonymous SNVNM_015092c.G8689Tp.G2897C18.6-Marques2022 ET
SMG6     Marques2022:102chr17:
1972183-1972183		CTexonicnonsynonymous SNVNM_001282326
NM_001256828
NM_001256827
NM_017575		c.G457A
c.G1000A
c.G1000A
c.G3724A		p.E153K
p.E334K
p.E334K
p.E1242K		30.00.0019Marques2022 ET
SMG1     Marques2022:101chr16:
18896984-18896984		ACexonicnonsynonymous SNVNM_015092c.T827Gp.V276G18.9-Marques2022 ET
SMG6     Marques2022:104chr17:
2139929-2139929		ATexonicnonsynonymous SNVNM_001256828
NM_001256827
NM_017575		c.T2A
c.T2A
c.T2726A		p.M1K
p.M1K
p.M909K		26.7-Marques2022 ET
SMG6     Marques2022:103chr17:
1972183-1972183		CTexonicnonsynonymous SNVNM_001282326
NM_001256828
NM_001256827
NM_017575		c.G457A
c.G1000A
c.G1000A
c.G3724A		p.E153K
p.E334K
p.E334K
p.E1242K		30.00.0019Marques2022 ET
SMG1     Marques2022:98chr16:
18871010-18871010		AGexonicnonsynonymous SNVNM_015092c.T3821Cp.L1274P18.478.409E-6Marques2022 ET
SMG1     Marques2022:97chr16:
18869558-18869558		CTexonicnonsynonymous SNVNM_015092c.G4168Ap.V1390M21.73.0E-4Marques2022 ET
SMG1     Marques2022:100chr16:
18882017-18882017		GAexonicnonsynonymous SNVNM_015092c.C2407Tp.R803C21.07.0E-4Marques2022 ET
SMG1     Marques2022:99chr16:
18871027-18871027		TCsplicingsplicing16.47-Marques2022 ET
SMG6     Marques2022:110chr17:
2203223-2203223		TCexonicnonsynonymous SNVNM_017575c.A824Gp.D275G14.960.0012Marques2022 ET
SMG6     Marques2022:109chr17:
2203223-2203223		TCexonicnonsynonymous SNVNM_017575c.A824Gp.D275G14.960.0012Marques2022 ET
SMG6     Marques2022:112chr17:
2203356-2203356		CGexonicnonsynonymous SNVNM_017575c.G691Cp.D231H10.910.0064Marques2022 ET
SMG6     Marques2022:111chr17:
2203320-2203320		GAexonicnonsynonymous SNVNM_017575c.C727Tp.R243C17.382.473E-5Marques2022 ET
SMG6     Marques2022:106chr17:
2196223-2196223		CTexonicnonsynonymous SNVNM_017575c.G2200Ap.D734N34.08.237E-6Marques2022 ET
SMG6     Marques2022:105chr17:
2186072-2186072		GAexonicnonsynonymous SNVNM_017575c.C2530Tp.R844W14.361.647E-5Marques2022 ET
SMG6     Marques2022:108chr17:
2202443-2202443		GAexonicnonsynonymous SNVNM_017575c.C1604Tp.T535M8.084.141E-5Marques2022 ET
SMG6     Marques2022:107chr17:
2202438-2202438		CAexonicnonsynonymous SNVNM_017575c.G1609Tp.G537C13.781.0E-4Marques2022 ET
CASC3     Marques2022:118chr17:
38320381-38320381		CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:117chr17:
38320381-38320381		CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:120chr17:
38324554-38324554		CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
CASC3     Marques2022:119chr17:
38324454-38324454		AGsplicingsplicing22.0-Marques2022 ET
CASC3     Marques2022:114chr17:
38296913-38296913		GTexonicnonsynonymous SNVNM_007359c.G112Tp.G38C18.61-Marques2022 ET
SMG6     Marques2022:113chr17:
2203868-2203868		CGexonicnonsynonymous SNVNM_017575c.G179Cp.R60T18.428.247E-6Marques2022 ET
CASC3     Marques2022:116chr17:
38318281-38318281		ACexonicnonsynonymous SNVNM_007359c.A483Cp.K161N12.69-Marques2022 ET
CASC3     Marques2022:115chr17:
38318151-38318151		GAexonicnonsynonymous SNVNM_007359c.G443Ap.S148N14.52-Marques2022 ET
SMG8     Marques2022:126chr17:
57287453-57287453		CTexonicnonsynonymous SNVNM_018149c.C41Tp.A14V8.93.0E-4Marques2022 ET
SMG8     Marques2022:125chr17:
57287425-57287425		GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SMG8     Marques2022:128chr17:
57288043-57288043		CTexonicnonsynonymous SNVNM_018149c.C631Tp.L211F18.37-Marques2022 ET
SMG8     Marques2022:127chr17:
57287970-57287970		CGexonicnonsynonymous SNVNM_018149c.C558Gp.H186Q16.652.615E-5Marques2022 ET
SRSF1     Marques2022:122chr17:
56083297-56083297		ACexonicnonsynonymous SNVNM_001078166
NM_006924		c.T417G
c.T417G		p.D139E
p.D139E		13.02-Marques2022 ET
CASC3     Marques2022:121chr17:
38324554-38324554		CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
SMG8     Marques2022:124chr17:
57287425-57287425		GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SRSF1     Marques2022:123chr17:
56084441-56084441		CTexonicnonsynonymous SNVNM_001078166
NM_006924		c.G58A
c.G58A		p.V20M
p.V20M		16.71-Marques2022 ET
SMG8     Marques2022:134chr17:
57288997-57288997		GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:133chr17:
57288766-57288766		GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:136chr17:
57289151-57289151		TCexonicnonsynonymous SNVNM_018149c.T1739Cp.F580S17.8-Marques2022 ET
SMG8     Marques2022:135chr17:
57288997-57288997		GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:130chr17:
57288044-57288044		TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:129chr17:
57288044-57288044		TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:132chr17:
57288766-57288766		GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:131chr17:
57288401-57288401		CTexonicnonsynonymous SNVNM_018149c.C989Tp.P330L21.8-Marques2022 ET
UPF1     Marques2022:142chr19:
18966038-18966038		CTexonicnonsynonymous SNVNM_001297549
NM_002911		c.C1564T
c.C1531T		p.R522W
p.R511W		21.38.452E-6Marques2022 ET
UPF1     Marques2022:141chr19:
18960931-18960931		TAexonicnonsynonymous SNVNM_001297549
NM_002911		c.T509A
c.T509A		p.L170Q
p.L170Q		24.5-Marques2022 ET
UPF1     Marques2022:144chr19:
18968277-18968277		CAexonicnonsynonymous SNVNM_001297549
NM_002911		c.C2150A
c.C2117A		p.P717H
p.P706H		26.0-Marques2022 ET
UPF1     Marques2022:143chr19:
18968162-18968162		CAexonicnonsynonymous SNVNM_001297549
NM_002911		c.C2035A
c.C2002A		p.P679T
p.P668T		24.1-Marques2022 ET
EIF4A3     Marques2022:138chr17:
78109932-78109932		TCsplicingsplicing8.876-Marques2022 ET
SMG8     Marques2022:137chr17:
57290456-57290456		GAexonicnonsynonymous SNVNM_018149c.G2272Ap.G758S27.91.648E-5Marques2022 ET
EIF4A3     Marques2022:140chr17:
78118041-78118041		AGexonicnonsynonymous SNVNM_014740c.T172Cp.F58L34.0-Marques2022 ET
EIF4A3     Marques2022:139chr17:
78112071-78112071		AGexonicnonsynonymous SNVNM_014740c.T737Cp.L246S17.48-Marques2022 ET
DHX34     Marques2022:150chr19:
47856844-47856844		ACexonicnonsynonymous SNVNM_014681c.A557Cp.D186A23.78.492E-6Marques2022 ET
SMG9     Marques2022:149chr19:
44254857-44254859		CATCexonicframeshift deletionNM_019108c.35_36delp.Y12fs--Marques2022 ET
DHX34     Marques2022:152chr19:
47858455-47858455		GAexonicnonsynonymous SNVNM_014681c.G865Ap.D289N27.81.0E-4Marques2022 ET
DHX34     Marques2022:151chr19:
47858447-47858447		TCexonicnonsynonymous SNVNM_014681c.T857Cp.L286P20.84.944E-5Marques2022 ET
SMG9     Marques2022:146chr19:
44251821-44251821		GAexonicnonsynonymous SNVNM_019108c.C454Tp.R152W19.789.032E-6Marques2022 ET
SMG9     Marques2022:145chr19:
44242324-44242324		GAexonicnonsynonymous SNVNM_019108c.C859Tp.R287C22.5-Marques2022 ET
SMG9     Marques2022:148chr19:
44254848-44254848		GAexonicnonsynonymous SNVNM_019108c.C46Tp.R16W22.48.314E-6Marques2022 ET
SMG9     Marques2022:147chr19:
44251836-44251836		ATexonicnonsynonymous SNVNM_019108c.T439Ap.Y147N23.3-Marques2022 ET
DHX34     Marques2022:158chr19:
47876133-47876133		CTexonicstopgainNM_014681c.C1915Tp.Q639X42.0-Marques2022 ET
DHX34     Marques2022:157chr19:
47865789-47865789		TCexonicnonsynonymous SNVNM_014681c.T1432Cp.F478L18.81-Marques2022 ET
DHX34     Marques2022:160chr19:
47876902-47876902		GAexonicnonsynonymous SNVNM_014681c.G2009Ap.R670Q20.51.0E-4Marques2022 ET
DHX34     Marques2022:159chr19:
47876898-47876898		CTexonicnonsynonymous SNVNM_014681c.C2005Tp.R669C23.71.0E-4Marques2022 ET
DHX34     Marques2022:154chr19:
47858494-47858494		CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     Marques2022:153chr19:
47858494-47858494		CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     Marques2022:156chr19:
47865787-47865787		AGexonicnonsynonymous SNVNM_014681c.A1430Gp.E477G32.0-Marques2022 ET
DHX34     Marques2022:155chr19:
47865756-47865756		GTexonicnonsynonymous SNVNM_014681c.G1399Tp.D467Y27.70.0018Marques2022 ET
DHX34     Marques2022:166chr19:
47884091-47884091		CTexonicnonsynonymous SNVNM_014681c.C3001Tp.R1001W12.756.602E-5Marques2022 ET
DHX34     Marques2022:165chr19:
47883030-47883030		GTexonicnonsynonymous SNVNM_014681c.G2770Tp.G924C19.144.0E-4Marques2022 ET
RUVBL2     Marques2022:168chr19:
49514506-49514506		CTexonicnonsynonymous SNVNM_006666c.C940Tp.R314W34.03.0E-4Marques2022 ET
RUVBL2     Marques2022:167chr19:
49513138-49513138		GAexonicnonsynonymous SNVNM_006666c.G568Ap.G190R24.5-Marques2022 ET
DHX34     Marques2022:162chr19:
47879329-47879329		AGexonicnonsynonymous SNVNM_014681c.A2456Gp.N819S18.188.812E-5Marques2022 ET
DHX34     Marques2022:161chr19:
47879292-47879292		GAexonicnonsynonymous SNVNM_014681c.G2419Ap.G807S35.00.0032Marques2022 ET
DHX34     Marques2022:164chr19:
47880464-47880464		GAsplicingsplicing21.1-Marques2022 ET
DHX34     Marques2022:163chr19:
47879766-47879766		GAexonicnonsynonymous SNVNM_014681c.G2548Ap.E850K19.940.0023Marques2022 ET
NBAS     Marques2022:174chr2:
15415865-15415865		TAexonicnonsynonymous SNVNM_015909c.A5467Tp.I1823F19.555.0E-4Marques2022 ET
NBAS     Marques2022:173chr2:
15415627-15415627		GAexonicnonsynonymous SNVNM_015909c.C5705Tp.S1902F24.5-Marques2022 ET
NBAS     Marques2022:176chr2:
15427225-15427225		GAexonicnonsynonymous SNVNM_015909c.C5110Tp.H1704Y17.242.0E-4Marques2022 ET
NBAS     Marques2022:175chr2:
15415865-15415865		TAexonicnonsynonymous SNVNM_015909c.A5467Tp.I1823F19.555.0E-4Marques2022 ET
PPP2R1A     Marques2022:170chr19:
52725358-52725358		TCexonicnonsynonymous SNVNM_014225c.T1525Cp.S509P21.0-Marques2022 ET
PPP2R1A     Marques2022:169chr19:
52716217-52716217		CTexonicnonsynonymous SNVNM_014225c.C661Tp.R221W27.2-Marques2022 ET
NBAS     Marques2022:172chr2:
15374831-15374831		CTexonicnonsynonymous SNVNM_015909c.G5984Ap.R1995Q32.06.0E-4Marques2022 ET
NBAS     Marques2022:171chr2:
15359049-15359049		GTexonicnonsynonymous SNVNM_015909c.C6280Ap.P2094T26.68.343E-6Marques2022 ET
NBAS     Marques2022:182chr2:
15449305-15449305		GAexonicnonsynonymous SNVNM_015909c.C4649Tp.A1550V28.72.0E-4Marques2022 ET
NBAS     Marques2022:181chr2:
15448339-15448339		CTsplicingsplicing16.54-Marques2022 ET
NBAS     Marques2022:184chr2:
15467889-15467889		ACexonicnonsynonymous SNVNM_015909c.T4567Gp.F1523V21.7-Marques2022 ET
NBAS     Marques2022:183chr2:
15449305-15449305		GAexonicnonsynonymous SNVNM_015909c.C4649Tp.A1550V28.72.0E-4Marques2022 ET
NBAS     Marques2022:178chr2:
15427256-15427256		GCexonicstopgainNM_015909c.C5079Gp.Y1693X41.0-Marques2022 ET
NBAS     Marques2022:177chr2:
15427225-15427225		GAexonicnonsynonymous SNVNM_015909c.C5110Tp.H1704Y17.242.0E-4Marques2022 ET
NBAS     Marques2022:180chr2:
15432775-15432775		CTexonicnonsynonymous SNVNM_015909c.G4913Ap.R1638H18.160.003Marques2022 ET
NBAS     Marques2022:179chr2:
15432775-15432775		CTexonicnonsynonymous SNVNM_015909c.G4913Ap.R1638H18.160.003Marques2022 ET
NBAS     Marques2022:190chr2:
15542374-15542374		CGexonicnonsynonymous SNVNM_015909c.G2989Cp.E997Q16.893.299E-5Marques2022 ET
NBAS     Marques2022:189chr2:
15534391-15534391		GAexonicnonsynonymous SNVNM_015909c.C3217Tp.R1073C16.180.0042Marques2022 ET
NBAS     Marques2022:192chr2:
15608634-15608634		CTexonicstopgainNM_015909c.G1749Ap.W583X40.08.256E-6Marques2022 ET
NBAS     Marques2022:191chr2:
15601387-15601387		ACexonicnonsynonymous SNVNM_015909c.T2277Gp.I759M15.9-Marques2022 ET
NBAS     Marques2022:186chr2:
15493821-15493821		ATexonicnonsynonymous SNVNM_015909c.T3945Ap.S1315R15.068.26E-6Marques2022 ET
NBAS     Marques2022:185chr2:
15470849-15470849		ACexonicnonsynonymous SNVNM_015909c.T4220Gp.L1407W16.88-Marques2022 ET
NBAS     Marques2022:188chr2:
15534391-15534391		GAexonicnonsynonymous SNVNM_015909c.C3217Tp.R1073C16.180.0042Marques2022 ET
NBAS     Marques2022:187chr2:
15496498-15496498		AGexonicnonsynonymous SNVNM_015909c.T3860Cp.L1287S13.752.474E-5Marques2022 ET
NBAS     Marques2022:198chr2:
15651461-15651461		CAexonicnonsynonymous SNVNM_015909c.G760Tp.G254C13.51-Marques2022 ET
NBAS     Marques2022:197chr2:
15651412-15651412		CTexonicnonsynonymous SNVNM_015909c.G809Ap.G270D20.42.478E-5Marques2022 ET
NBAS     Marques2022:200chr2:
15676649-15676649		GCexonicnonsynonymous SNVNM_015909c.C540Gp.S180R9.5751.0E-4Marques2022 ET
NBAS     Marques2022:199chr2:
15676570-15676570		GAexonicstopgainNM_015909c.C619Tp.R207X37.0-Marques2022 ET
NBAS     Marques2022:194chr2:
15615936-15615936		AGexonicnonsynonymous SNVNM_015909c.T1216Cp.C406R11.924.949E-5Marques2022 ET
NBAS     Marques2022:193chr2:
15614282-15614282		GAexonicnonsynonymous SNVNM_015909c.C1508Tp.A503V23.9-Marques2022 ET
NBAS     Marques2022:196chr2:
15618404-15618404		CGexonicnonsynonymous SNVNM_015909c.G1093Cp.D365H17.350.0088Marques2022 ET
NBAS     Marques2022:195chr2:
15618404-15618404		CGexonicnonsynonymous SNVNM_015909c.G1093Cp.D365H17.350.0088Marques2022 ET
DIS3L2     Marques2022:206chr2:
233028237-233028237		AGexonicnonsynonymous SNVNM_001257281
NM_152383		c.A1019G
c.A1019G		p.Y340C
p.Y340C		21.11.0E-4Marques2022 ET
DIS3L2     Marques2022:205chr2:
233001277-233001279		CCTCexonicframeshift deletionNM_001257281
NM_152383		c.799_800del
c.799_800del		p.L267fs
p.L267fs		--Marques2022 ET
DIS3L2     Marques2022:208chr2:
233127938-233127938		CGexonicnonsynonymous SNVNM_001257281
NM_152383		c.C1447G
c.C1447G		p.R483G
p.R483G		20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:207chr2:
233127938-233127938		CGexonicnonsynonymous SNVNM_001257281
NM_152383		c.C1447G
c.C1447G		p.R483G
p.R483G		20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:202chr2:
232880381-232880381		GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383		c.G210C
c.G210C
c.G210C		p.Q70H
p.Q70H
p.Q70H		20.2-Marques2022 ET
NBAS     Marques2022:201chr2:
15696945-15696945		TCsplicingsplicing18.171.652E-5Marques2022 ET
DIS3L2     Marques2022:204chr2:
232894729-232894729		GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383		c.G305C
c.G305C
c.G305C		p.R102P
p.R102P
p.R102P		27.25.8E-5Marques2022 ET
DIS3L2     Marques2022:203chr2:
232889039-232889039		CTexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383		c.C263T
c.C263T
c.C263T		p.P88L
p.P88L
p.P88L		21.69.0E-4Marques2022 ET
DIS3L2     Marques2022:214chr2:
233194645-233194645		TCexonicnonsynonymous SNVNM_152383c.T1862Cp.L621P21.98.372E-6Marques2022 ET
DIS3L2     Marques2022:213chr2:
233194618-233194618		CTexonicnonsynonymous SNVNM_152383c.C1835Tp.P612L18.351.683E-5Marques2022 ET
DIS3L2     Marques2022:216chr2:
233201302-233201302		GTexonicstopgainNM_152383c.G2620Tp.E874X34.03.594E-5Marques2022 ET
DIS3L2     Marques2022:215chr2:
233198613-233198613		ATexonicnonsynonymous SNVNM_152383c.A2074Tp.N692Y20.1-Marques2022 ET
DIS3L2     Marques2022:210chr2:
233164812-233164812		GTexonicnonsynonymous SNVNM_152383c.G1722Tp.E574D18.181.0E-4Marques2022 ET
DIS3L2     Marques2022:209chr2:
233127939-233127939		GAexonicnonsynonymous SNVNM_001257281
NM_152383		c.G1448A
c.G1448A		p.R483Q
p.R483Q		24.00.0113Marques2022 ET
DIS3L2     Marques2022:212chr2:
233194609-233194609		GAexonicnonsynonymous SNVNM_152383c.G1826Ap.R609Q32.02.546E-5Marques2022 ET
DIS3L2     Marques2022:211chr2:
233194608-233194608		CTexonicnonsynonymous SNVNM_152383c.C1825Tp.R609W25.51.0E-4Marques2022 ET
XRN1     Marques2022:222chr3:
142051814-142051814		CTexonicnonsynonymous SNVNM_001282857
NM_019001		c.G4057A
c.G4057A		p.A1353T
p.A1353T		27.73.304E-5Marques2022 ET
XRN1     Marques2022:221chr3:
142031589-142031589		GCexonicnonsynonymous SNVNM_001282857
NM_019001		c.C4633G
c.C4669G		p.P1545A
p.P1557A		18.372.0E-4Marques2022 ET
XRN1     Marques2022:224chr3:
142084168-142084168		GTexonicnonsynonymous SNVNM_001282857
NM_019001		c.C3245A
c.C3245A		p.P1082H
p.P1082H		17.815.79E-5Marques2022 ET
XRN1     Marques2022:223chr3:
142075938-142075938		CTexonicnonsynonymous SNVNM_001282857
NM_019001		c.G3488A
c.G3488A		p.R1163Q
p.R1163Q		35.0-Marques2022 ET
SEC13     Marques2022:218chr3:
10357089-10357089		CTexonicnonsynonymous SNVNM_001136232
NM_001278946
NM_183352
NM_001136026
NM_030673		c.G38A
c.G80A
c.G80A
c.G218A
c.G89A		p.R13H
p.R27H
p.R27H
p.R73H
p.R30H		35.09.141E-5Marques2022 ET
SEC13     Marques2022:217chr3:
10354325-10354325		AGexonicnonsynonymous SNVNM_001136232
NM_001278946
NM_183352
NM_001136026
NM_030673		c.T212C
c.T254C
c.T254C
c.T392C
c.T263C		p.I71T
p.I85T
p.I85T
p.I131T
p.I88T		25.2-Marques2022 ET
RUVBL1     Marques2022:220chr3:
127831806-127831806		TCexonicnonsynonymous SNVNM_003707c.A286Gp.M96V18.274.943E-5Marques2022 ET
RUVBL1     Marques2022:219chr3:
127823653-127823653		AGexonicnonsynonymous SNVNM_003707c.T476Cp.I159T24.78.258E-6Marques2022 ET
EIF4G1     Marques2022:230chr3:
184035178-184035178		CTexonicnonsynonymous SNVNM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.C217T
c.C238T
c.C97T
c.C217T
c.C238T		p.R73C
p.R80C
p.R33C
p.R73C
p.R80C		25.18.249E-6Marques2022 ET
XRN1     Marques2022:229chr3:
142142460-142142461		CACexonicframeshift deletionNM_001282857
NM_001282859
NM_019001		c.651delT
c.651delT
c.651delT		p.H217fs
p.H217fs
p.H217fs		--Marques2022 ET
EIF4G1     Marques2022:232chr3:
184044707-184044707		CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.C2779T
c.C2872T
c.C3103T
c.C3367T
c.C3385T
c.C3244T
c.C3364T
c.C3385T		p.R927C
p.R958C
p.R1035C
p.R1123C
p.R1129C
p.R1082C
p.R1122C
p.R1129C		25.8-Marques2022 ET
EIF4G1     Marques2022:231chr3:
184039373-184039373		CAexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946		c.C413A
c.C509A
c.C740A
c.C1001A
c.C1022A
c.C881A
c.C1001A
c.C1022A		p.P138Q
p.P170Q
p.P247Q
p.P334Q
p.P341Q
p.P294Q
p.P334Q
p.P341Q		15.858.238E-5Marques2022 ET
XRN1     Marques2022:226chr3:
142102200-142102200		AGexonicnonsynonymous SNVNM_001282857
NM_019001		c.T2558C
c.T2558C		p.F853S
p.F853S		29.6-Marques2022 ET
XRN1