PDMR-381249~077-R~GFNT02_RG-Q30-P2

Variant Type	Calling Status
Mutations	Called
Copy number	Called
Fusions	Called

Gene	Somatic Mutations	Classification	Type	VAF	Somatic Copy Number	CN status	Fusions
ABL1	p.P937L	Missense	SNP	0.490	2	-	-
AC004080.3	-	-	-	-	1	Loss	-
AC007326.4	-	-	-	-	1	Loss	-
AC093668.1	-	-	-	-	0	Del	-
AC093668.2	-	-	-	-	0	Del	-
AC093668.3	-	-	-	-	0	Del	-
AC105052.1	-	-	-	-	0	Del	-
AC105052.3	-	-	-	-	0	Del	-
AC244035.1	-	-	-	-	ND	ND	AC244035.1--RHEX
ACVR1	p.R375H	Missense	SNP	0.503	2	-	-
ADAM29	p.R723H	Missense	SNP	0.470	2	-	-
ADD1	p.V585I	Missense	SNP	0.615	2	-	-
AL445238.1	-	-	-	-	3	Gain	-
AL445989.1	-	-	-	-	3	Gain	-
ALPG	-	-	-	-	0	Del	-
ALPP	-	-	-	-	0	Del	-
ANKDD1A	p.R65C	Missense	SNP	0.517	2	-	-
ARL17A	-	-	-	-	2	-	ARL17A--KANSL1
ARRDC1	p.G379D	Missense	SNP	0.527	2	-	-
ARSF	p.A112P	Missense	SNP	0.542	ND	ND	-
ATRIP	p.C487Y	Missense	SNP	0.547	2	-	-
AUP1	p.R227C	Missense	SNP	0.515	2	-	-
B3GNT6	p.G221D	Missense	SNP	0.517	2	-	-
B4GALNT4	p.V625M	Missense	SNP	0.443	2	-	-
BCL9	p.R371C	Missense	SNP	0.464	2	-	-
BICC1	p.K156*	Nonsense	SNP	0.544	2	-	-
BRINP3	p.R159*	Nonsense	SNP	0.502	2	-	-
BRPF3	p.R897C	Missense	SNP	0.513	2	-	-
BSND	p.D3N	Missense	SNP	0.413	2	-	-
BTNL3	-	-	-	-	1	Loss	-
C12orf42	p.P244L	Missense	SNP	0.521	2	-	-
C4A	-	-	-	-	1	Loss	-
C4B	-	-	-	-	1	Loss	-
C6orf47	p.P214L	Missense	SNP	0.467	2	-	-
CASS4	p.S232N	Missense	SNP	0.541	2	-	-
CCDC39	p.R214C	Missense	SNP	0.491	2	-	-
CCDC53	p.T37I	Missense	SNP	0.463	ND	ND	-
CCDC77	p.X348_splice	Splice_Site	SNP	0.395	2	-	-
CCNYL2	-	-	-	-	ND	ND	ZNF33B--CCNYL2
CD93	p.V32M	Missense	SNP	0.439	2	-	-
CDC73	p.V445I	Missense	SNP	0.518	2	-	-
CHADL	p.R708S	Missense	SNP	0.500	2	-	-
CHL1	p.G874E	Missense	SNP	0.569	2	-	-
CILP2	p.G779D	Missense	SNP	0.495	2	-	-
CIZ1	p.R740*	Nonsense	SNP	0.494	2	-	-
CLEC14A	p.R161*	Nonsense	SNP	0.430	2	-	-
CNTNAP2	-	-	-	-	3	Gain	-
CTNNA2	p.A133V	Missense	SNP	0.494	2	-	-
CYP2A7	p.M18V	Missense	SNP	0.492	2	-	-
CYTIP	p.T278A	Missense	SNP	0.401	2	-	-
DACH1	-	-	-	-	3	Gain	-
DDX54	p.I393V	Missense	SNP	0.533	2	-	-
DEFB103A	-	-	-	-	1	Loss	-
DEFB103B	-	-	-	-	1	Loss	-
DEFB104A	-	-	-	-	1	Loss	-
DEFB104B	-	-	-	-	1	Loss	-
DEFB105A	-	-	-	-	1	Loss	-
DEFB105B	-	-	-	-	1	Loss	-
DEFB106A	-	-	-	-	1	Loss	-
DEFB106B	-	-	-	-	1	Loss	-
DEFB107A	-	-	-	-	1	Loss	-
DEFB107B	-	-	-	-	1	Loss	-
DEFB4A	-	-	-	-	1	Loss	-
DEFB4B	-	-	-	-	1	Loss	-
DGCR6	-	-	-	-	1	Loss	-
DNAH8	p.G290C	Missense	SNP	0.457	2	-	-
DNAJC18	p.A3V	Missense	SNP	0.431	2	-	-
DSCAML1	p.T1105M p.A917T	Missense Missense	SNP SNP	0.560 0.558	2	-	-
ELFN2	p.R739H	Missense	SNP	0.552	2	-	-
ERC2	p.A835T	Missense	SNP	0.539	2	-	-
FAM110D	p.P79L	Missense	SNP	0.501	2	-	-
FAM185A	-	-	-	-	0	Del	-
FAT4	p.I3286M	Missense	SNP	0.514	2	-	-
FBN2	p.C1077Y	Missense	SNP	0.481	2	-	-
FBXL13	-	-	-	-	0	Del	-
FBXL5	p.E691K	Missense	SNP	0.490	2	-	-
FLG	p.G2251*	Nonsense	SNP	0.481	2	-	-
FP565260.1	-	-	-	-	1	Loss	-
FP565260.2	-	-	-	-	1	Loss	-
FP565260.3	-	-	-	-	1	Loss	-
FP565260.4	-	-	-	-	1	Loss	-
GATD3B	-	-	-	-	1	Loss	-
GLRA4	p.R106H	Missense	SNP	0.505	ND	ND	-
GPC5	-	-	-	-	3	Gain	-
GPC6	-	-	-	-	3	Gain	-
GPR20	-	-	-	-	3	Gain	-
GUF1	p.R631Q	Missense	SNP	0.500	2	-	-
HNRNPAB	p.S296L	Missense	SNP	0.519	2	-	-
HOXA10	-	-	-	-	1	Loss	-
HOXA11	-	-	-	-	1	Loss	-
HOXA5	-	-	-	-	1	Loss	-
HOXA6	-	-	-	-	1	Loss	-
HOXA7	-	-	-	-	1	Loss	-
HOXA9	-	-	-	-	1	Loss	-
HRNR	p.H893Q	Missense	SNP	0.452	2	-	-
HYOU1	p.R98S	Missense	SNP	0.484	2	-	-
IFT140	p.E790K	Missense	SNP	0.482	2	-	-
IREB2	p.R51*	Nonsense	SNP	0.510	2	-	-
KANK4	p.R219Q	Missense	SNP	0.507	2	-	-
KANSL1	-	-	-	-	2	-	ARL17A--KANSL1
KCNA7	p.A262T	Missense	SNP	0.481	2	-	-
KCND2	-	-	-	-	3	Gain	-
KCTD18	p.P383L	Missense	SNP	0.531	2	-	-
KIAA1024	p.P754L	Missense	SNP	0.525	2	-	-
KIF13B	p.R306S	Missense	SNP	0.470	2	-	-
KLHL1	-	-	-	-	3	Gain	-
KRAS	p.G13D	Missense	SNP	0.449	2	-	-
KRT10	p.R370H	Missense	SNP	0.500	2	-	-
LMOD3	p.E148D	Missense	SNP	0.492	2	-	-
LRP12	p.R746*	Nonsense	SNP	0.484	2	-	-
LRRTM1	p.A395V	Missense	SNP	0.568	2	-	-
LTN1	p.A211T	Missense	SNP	0.482	2	-	-
MAGEL2	p.R899C	Missense	SNP	0.465	2	-	-
MARCH7	p.T36S	Missense	SNP	0.426	2	-	-
MAX	p.H28R	Missense	SNP	0.520	2	-	-
MED12	p.R1627C	Missense	SNP	0.449	ND	ND	-
MIS18BP1	p.R237Q	Missense	SNP	0.491	2	-	-
MISP	p.A196V	Missense	SNP	0.532	2	-	-
MRPL11	p.R154C	Missense	SNP	0.543	2	-	-
MUC17	p.Q1564P p.R2342C	Missense Missense	SNP SNP	0.197 0.497	2	-	-
NEGR1	-	-	-	-	3	Gain	-
NPHP3	p.N123K	Missense	SNP	0.450	2	-	-
NTNG1	-	-	-	-	3	Gain	-
NUP205	p.R1990*	Nonsense	SNP	0.478	2	-	-
OLFM4	-	-	-	-	3	Gain	-
OR4K5	p.S6Y	Missense	SNP	0.565	2	-	-
P3H2	p.L10P	Missense	SNP	0.541	2	-	-
PCDH17	-	-	-	-	3	Gain	-
PCDH9	-	-	-	-	3	Gain	-
PCDHB6	p.R459H	Missense	SNP	0.368	2	-	-
PCIF1	p.E200K	Missense	SNP	0.511	2	-	-
PDE6B	p.A471T	Missense	SNP	0.495	2	-	-
PI4KA	p.E749K	Missense	SNP	0.458	2	-	-
PIK3R1	p.R358* p.X582_splice	Nonsense Splice_Site	SNP SNP	0.466 0.498	2	-	-
PLOD1	p.H225R	Missense	SNP	0.539	2	-	-
PODXL	p.V107M	Missense	SNP	0.457	2	-	-
POLR2J2	-	-	-	-	0	Del	-
POLR2J3	-	-	-	-	0	Del	-
PPFIBP2	p.R110C	Missense	SNP	0.488	2	-	-
PPM1F	p.R167H	Missense	SNP	0.525	2	-	-
PPP2CA	p.R206H	Missense	SNP	0.510	2	-	-
PRAG1	-	-	-	-	1	Loss	-
PRMT6	-	-	-	-	3	Gain	-
PRODH	-	-	-	-	1	Loss	-
PRR23D1	-	-	-	-	1	Loss	-
PRR23D2	-	-	-	-	1	Loss	-
PTGIR	p.S380T	Missense	SNP	0.512	2	-	-
PTPRD	p.P1257L	Missense	SNP	0.513	2	-	-
PTPRS	p.A918V	Missense	SNP	0.607	2	-	-
PTRF	p.E188K	Missense	SNP	0.520	ND	ND	-
RAB11FIP1	p.A413S	Missense	SNP	0.444	2	-	-
RASA4	-	-	-	-	0	Del	-
RASA4B	-	-	-	-	0	Del	-
RGPD1	-	-	-	-	0	Del	-
RGPD2	-	-	-	-	0	Del	-
RHEX	-	-	-	-	2	-	AC244035.1--RHEX
RNF214	p.R482H	Missense	SNP	0.471	2	-	-
RP1	p.R193H	Missense	SNP	0.556	2	-	-
RSAD1	p.R396Q	Missense	SNP	0.451	2	-	-
SERPINF2	p.G68*	Nonsense	SNP	0.529	2	-	-
SETD2	p.R540Q	Missense	SNP	0.496	2	-	-
SKI	p.A540V	Missense	SNP	0.480	2	-	-
SLC22A8	p.R50C	Missense	SNP	0.532	2	-	-
SLC38A5	p.R339H	Missense	SNP	0.565	ND	ND	-
SLC45A3	p.P309L	Missense	SNP	0.510	2	-	-
SLC45A4	-	-	-	-	3	Gain	-
SLCO1A2	p.E297K	Missense	SNP	0.421	2	-	-
SLITRK1	-	-	-	-	3	Gain	-
SLITRK5	-	-	-	-	3	Gain	-
SLITRK6	-	-	-	-	3	Gain	-
SOX3	p.R22W	Missense	SNP	0.549	ND	ND	-
SPAG11A	-	-	-	-	1	Loss	-
SPAG11B	-	-	-	-	1	Loss	-
TAF1	p.G1292E	Missense	SNP	0.493	ND	ND	-
TCEB3B	p.R235C	Missense	SNP	0.522	ND	ND	-
TEX33	p.P188H	Missense	SNP	0.357	2	-	-
TFAP4	p.T230P	Missense	SNP	0.143	2	-	-
TG	p.A286T	Missense	SNP	0.504	2	-	-
TMEM132D	p.R853W	Missense	SNP	0.511	2	-	-
TMEM178A	p.A141T	Missense	SNP	0.469	2	-	-
TMEM191B	-	-	-	-	1	Loss	-
TMEM218	p.V12M	Missense	SNP	0.518	2	-	-
TOR4A	p.A208V	Missense	SNP	0.534	2	-	-
TRIM52	p.C227*	Nonsense	SNP	0.517	2	-	-
UBASH3B	p.E436K	Missense	SNP	0.506	2	-	-
UNC13B	p.R1085C	Missense	SNP	0.431	2	-	-
UNC5CL	p.R244H	Missense	SNP	0.548	2	-	-
UPK3BL1	-	-	-	-	0	Del	-
UROC1	p.G72R	Missense	SNP	0.430	2	-	-
USP17L1	-	-	-	-	1	Loss	-
USP17L3	-	-	-	-	1	Loss	-
USP17L4	-	-	-	-	1	Loss	-
USP17L8	-	-	-	-	1	Loss	-
USPL1	p.S248L	Missense	SNP	0.561	2	-	-
VPS13C	p.N23S	Missense	SNP	0.468	2	-	-
ZBP1	p.R109W	Missense	SNP	0.532	2	-	-
ZBTB7B	p.R397L	Missense	SNP	0.444	2	-	-
ZC3H7A	p.L389V	Missense	SNP	0.466	2	-	-
ZNF169	p.R549C	Missense	SNP	0.475	2	-	-
ZNF33B	-	-	-	-	2	-	ZNF33B--CCNYL2
ZNF83	p.K290R	Missense	SNP	0.218	2	-	-