Patient I-H-135074

View Patient in Leukgen

Individual DMP ID: P-0018770

Gender: MALE

Disease(s): EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Number of WGS Samples: 1

Number of RNAseq Samples: 1

WGS Status:

ID	CONPAIR	BATTENBERG	PINDEL	ANNOT_PINDEL	CAVEMAN	ANNOT_CAVEMAN	BRASS
I-H-135074-T1-2-D1-1	SUCCEEDED	SUCCEEDED	SUCCEEDED	SUCCEEDED	SUCCEEDED	SUCCEEDED	SUCCEEDED

RNA Status:

ID	RNAFUSIONS
I-H-135074-T1-1-R1-1	SUCCEEDED

CBio Portal Results:

Tumor_Sample_Barcode	Chromosome	Start_Position	Reference_Allele	Tumor_Seq_Allele2	Hugo_Symbol	VAF	Variant_Classification	HGVSp_Short
P-0018770-T02-IM6	9	36840564	C	T	PAX5	0.227273	Missense_Mutation	p.R390H
P-0018770-T04-IM6	4	55569942	A	G	KIT	0.0845411	Missense_Mutation	p.E270G
P-0018770-T04-IM6	9	36840564	C	T	PAX5	0.191289	Missense_Mutation	p.R390H
P-0018770-T04-IM6	19	15355374	G	A	BRD4	0.137164	Missense_Mutation	p.P750L

Conpair Results:

		CONCORDANCE	MARKERS	REFERENCE_CONTAM	TARGET_CONTAM
TARGET	REFERENCE
I-H-135074-T1-1-R1-1	I-H-135074-N1-1-D1-1	96.54	1850/7387	0.024	0.103
I-H-135074-T1-2-D1-1	I-H-135074-N1-1-D1-1	98.15	7369/7387	0.024	0.052

RNA Sample: I-H-135074-T1-1-R1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

RNAFUSIONS Results:

High Confidence Fusions:

GENE1	GENE2	DESCRIPTION	SPAN_READS	SPLIT_READS	LEFTBREAK	RIGHTBREAK	CALLER_EFFECT	ANNOT_EFFECT	CALLER	NUM_CALLERS
EFR3A	LRRC6	exon-exon	319	27	8:133015532:+	8:133650353:-	out-of-frame	out-of-frame	FUSIONCATCHER	3
EFR3A	LRRC6	exon-exon	319	5	8:133015532:+	8:133655932:-	out-of-frame	out-of-frame	FUSIONCATCHER	3
EFR3A	LRRC6	exon-exon	39	177	8:133015532:+	8:133650353:-	-	out-of-frame	SOAPFUSE	3
EFR3A	LRRC6	exon-exon	13	50	8:133015532:+	8:133650353:-	FRAMESHIFT	out-of-frame	STARFUSION	3
BEST3	FRS2	exon-exon	28	13	12:70087454:-	12:69924645:+	CDS(truncated)/UTR	CDS(truncated)/UTR	FUSIONCATCHER	3
BEST3	FRS2	exon-exon	28	8	12:70092985:-	12:69924645:+	UTR/UTR	UTR/UTR	FUSIONCATCHER	3
BEST3	FRS2	exon-exon	28	4	12:70087509:-	12:69924645:+	CDS(truncated)/UTR	CDS(truncated)/UTR	FUSIONCATCHER	3
BEST3	FRS2	exon-exon	9	6	12:70087454:-	12:69924645:+	frame-shift	CDS(truncated)/UTR	SOAPFUSE	3
NFIX	GCDH	tcga,cell_lines,chimerdb3seq,cancer,oesophagus,10K	38	22	19:13136366:+	19:13024809:+	CDS(truncated)/CDS(no-known-start-or-end)	CDS(truncated)/CDS(no-known-start-or-end)	FUSIONCATCHER	2
NFIX	GCDH	tcga,cell_lines,chimerdb3seq,cancer,oesophagus,10K	38	3	19:13136366:+	19:13024677:+	CDS(truncated)/intronic	CDS(truncated)/intronic	FUSIONCATCHER	2
PVT1	CPM	no_protein,lincrna,oncogene,cancer,exon-exon	24	14	8:128806980:+	12:69279669:-	exonic(no-known-CDS)/CDS(truncated)	exonic(no-known-CDS)/CDS(truncated)	FUSIONCATCHER	2
PVT1	CPM	no_protein,lincrna,oncogene,cancer,exon-exon	24	2	8:128808254:+	12:69279669:-	exonic(no-known-CDS)/CDS(truncated)	exonic(no-known-CDS)/CDS(truncated)	FUSIONCATCHER	2
PVT1	CPM	no_protein,lincrna,oncogene,cancer,exon-exon	24	2	8:128806980:+	12:69326620:-	exonic(no-known-CDS)/UTR	exonic(no-known-CDS)/UTR	FUSIONCATCHER	2
PVT1	CPM	no_protein,lincrna,oncogene,cancer,exon-exon	24	2	8:128806980:+	12:69265736:-	exonic(no-known-CDS)/CDS(truncated)	exonic(no-known-CDS)/CDS(truncated)	FUSIONCATCHER	2
CPSF6	PNISR	exon-exon	17	6	12:69656342:+	6:99856147:-	out-of-frame	out-of-frame	FUSIONCATCHER	2
LRRC6	CCDC26	no_protein,lincrna,m16,exon-exon	17	11	8:133595941:-	8:130411930:-	CDS(truncated)/exonic(no-known-CDS)	CDS(truncated)/exonic(no-known-CDS)	FUSIONCATCHER	2
LRRC6	CCDC26	no_protein,lincrna,m16	17	5	8:133595941:-	8:130504361:-	CDS(truncated)/intronic	CDS(truncated)/intronic	FUSIONCATCHER	2
LRRC6	CCDC26	no_protein,lincrna,m16	17	4	8:133595941:-	8:130599268:-	CDS(truncated)/intronic	CDS(truncated)/intronic	FUSIONCATCHER	2
LRRC6	CCDC26	no_protein,lincrna,m16,exon-exon	17	3	8:133595941:-	8:130365226:-	CDS(truncated)/exonic(no-known-CDS)	CDS(truncated)/exonic(no-known-CDS)	FUSIONCATCHER	2
TAB3	DMD	known,tcga,chimerdb3seq,cancer,100K	16	15	X:30870895:-	X:31366751:-	in-frame	in-frame	FUSIONCATCHER	2
TAB3	DMD	known,tcga,chimerdb3seq,cancer,100K	16	2	X:30870895:-	X:31341775:-	out-of-frame	out-of-frame	FUSIONCATCHER	2
WDR12	FAM117B	m13,exon-exon	16	12	2:203757340:-	2:203589640:+	in-frame	in-frame	FUSIONCATCHER	2
PTPRR	MYRFL	exon-exon	9	7	12:71058113:-	12:70284751:+	UTR/CDS(truncated)	UTR/CDS(truncated)	FUSIONCATCHER	2
PTPRR	MYRFL	-	9	2	12:71058312:-	12:70284751:+	UTR/CDS(truncated)	UTR/CDS(truncated)	FUSIONCATCHER	2
YEATS4	LYZ	adjacent,oncogene,tcga,chimerdb3seq,1K	9	2	12:69756687:+	12:69743888:+	out-of-frame	out-of-frame	FUSIONCATCHER	2
YEATS4	LYZ	adjacent,oncogene,tcga,chimerdb3seq,1K	9	2	12:69764755:+	12:69743888:+	in-frame	in-frame	FUSIONCATCHER	2

Rescued Fusions:

GENE1	GENE2	DESCRIPTION	SPAN_READS	SPLIT_READS	LEFTBREAK	RIGHTBREAK	CALLER_EFFECT	ANNOT_EFFECT	CALLER	NUM_CALLERS
ETV6	IGK@	known,oncogene,cancer,tumor,m11	17	9	12:11998861:+	2:91834643:+	intronic/---	intronic/---	FUSIONCATCHER	1
IGK@	ETV6	known,oncogene,cancer,tumor,m0,multi	7	7	2:91834637:-	12:12036316:+	---/intronic	---/intronic	FUSIONCATCHER	1
IGK@	NSD2	known,oncogene,cancer,tumor,m0,multi	6	2	not-converted+	4:1928013:+	---/intronic	---/intronic	FUSIONCATCHER	1
IGH@	BCL9	known,oncogene,chimerdb2,chimerdb3kb,cancer,tumor,m0,multi	3	7	20:35289135:-	1:147043875:+	---/intronic	---/intronic	FUSIONCATCHER	1
NFIX	GCDH	tcga,cell_lines,chimerdb3seq,cancer,oesophagus,exon-exon	2	10	19:13136366:+	19:13024809:+	INFRAME	CDS(truncated)/CDS(no-known-start-or-end)	STARFUSION	2
SCARB1	NCOR2	known,tcga,cell_lines,non_tumor_cells,fragments,chimerdb3seq,cancer,oesophagus,exon-exon	2	3	12:125292307:-	12:124862930:-	out-of-frame	out-of-frame	FUSIONCATCHER	1

View RNAFUSIONS Report

SALMON TSNE Results:

WGS Sample: I-H-135074-T1-2-D1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

Normal used: I-H-135074-N1-1-D1-1

MSISensor: LOW(0.4)

Battenberg Results

Tumor Purity: 0.41

Tumor Ploidy: 2.73

Pindel Results:

Pindel Likely Drivers:

CHR	START	GENE	EFFECT	cDNA_CHANGE	PROTEIN_CHANGE	TARGET_VAF	REFERENCE_VAF	REFERENCE_DEPTH	Oncogene	TSG	CCF	TARGET_VAFCORRECT_VAF	NORMAL_VAFCORRECT_VAF

CHR	START	GENE	EFFECT	cDNA_CHANGE	PROTEIN_CHANGE	TARGET_VAF	REFERENCE_DEPTH	CCF	TARGET_VAFCORRECT_VAF
1	151108216	SEMA6C	frameshift_variant	c.1274_1283delAAGTAGCTGT	p.Q425fs*24	0.092	59	0.783454	0.1
1	156262950	C1orf85	frameshift_variant	c.1101_1105delCCCAC	p.P368fs*49	0.087	43	0.610483	0.08
2	108499205	RGPD4	frameshift_variant	c.5142_5143insA	p.N1715fs*13	0.194	44	1.10856	0.19
3	9594053	LHFPL4	frameshift_variant	c.310_311insGG	p.V104fs*3	0.188	62	0.796787	0.21
4	186578613	SORBS2	frameshift_variant	c.531delC	p.V178fs*159	0.381	44	2.05102	0.42
4	186578616	SORBS2	frameshift_variant	c.528delG	p.V178fs*159	0.235	45	1.17201	0.3
5	5239311	ADAMTS16	frameshift_variant	c.2203delT	p.C735fs*45	0.135	38	0.944245	0.14
6	167754155	TTLL2	frameshift_variant	c.768delC	p.R257fs*12	0.172	40	0.957786	0.2
7	138768762	ZC3HAV1	complex_change_in_transcript	c.445-6_460del22	p.?	0.119	61	0.924283	0.16
10	75407029	SYNPO2L	frameshift_variant	c.2379_2380delGT	p.L795fs*35	0.235	62	0.972942	0.25
12	51620070	AC139768.1	stop_lost	c.43_57delTATATATATATATAT	p.?	0.167	16	nan	0.67
16	109410	RHBDF1	splice_site_variant	c.1893+3_1893+6delaggt	p.?	0.213	76	1.00895	0.21
18	12367023	AFG3L2	inframe_codon_loss	c.484_492delCTGCTCAAG	p.L162_K164delLLK	0.23	59	1.00578	0.26
19	1105745	GPX4	frameshift_variant	c.414_418delCGACG	p.D139fs*81	0.178	51	1.29442	0.19

Caveman Results:

Caveman Likely Drivers:

CHR	START	GENE	EFFECT	cDNA_CHANGE	PROTEIN_CHANGE	TARGET_VAF	REFERENCE_VAF	REFERENCE_DEPTH	Oncogene	TSG	CCF
3	195509582	MUC4	non_synonymous_codon	c.8869C>G	p.H2957D	0.36	0	9			nan

CHR	START	GENE	EFFECT	cDNA_CHANGE	PROTEIN_CHANGE	TARGET_VAF	REFERENCE_DEPTH	Oncogene	CCF
1	10708185	CASZ1	non_synonymous_codon	c.3170G>A	p.R1057Q	0.16	70		0.820145
1	25571705	C1orf63	non_synonymous_codon	c.608C>G	p.T203S	0.17	51		0.64627
1	43785015	TIE1	non_synonymous_codon	c.3032C>T	p.T1011M	0.18	60		0.895285
1	55088963	FAM151A	non_synonymous_codon	c.106C>A	p.L36M	0.16	66		0.777972
1	100613575	TRMT13	non_synonymous_codon	c.943G>C	p.G315R	0.12	42		0.949245
1	117699439	VTCN1	non_synonymous_codon	c.202G>A	p.V68M	0.13	56		1.03475
1	145304472	NBPF10	stop_gained	c.1405G>T	p.E469*	0.032	119		0.277329
1	158153744	CD1D	non_synonymous_codon	c.905T>G	p.M302R	0.17	55		1.21258
1	158736462	OR6N1	non_synonymous_codon	c.11G>A	p.G4E	0.19	54		1.28469
1	161068345	KLHDC9	non_synonymous_codon	c.20C>T	p.P7L	0.14	83		1.07678
1	161092307	DEDD	non_synonymous_codon	c.677G>T	p.R226I	0.071	53		0.568636
1	165513608	LRRC52	non_synonymous_codon	c.75G>T	p.K25N	0.19	47		0.824117
1	170931044	MROH9	non_synonymous_codon	c.302A>G	p.N101S	0.096	51		0.849475
1	176762740	PAPPA2	non_synonymous_codon	c.5065G>A	p.V1689M	0.1	55		0.895392
1	183938532	COLGALT2	non_synonymous_codon	c.703G>A	p.V235I	0.093	55		0.828238
1	200578028	KIF14	non_synonymous_codon	c.1484T>G	p.F495C	0.079	58		nan
1	202097571	GPR37L1	non_synonymous_codon	c.1333G>A	p.A445T	0.12	63		1.08919
1	202699040	KDM5B	non_synonymous_codon	c.4400G>A	p.R1467Q	0.18	47		0.787945
1	209905889	HSD11B1	stop_gained	c.626C>G	p.S209*	0.089	47		0.80314
1	219366502	LYPLAL1	non_synonymous_codon	c.270C>A	p.H90Q	0.11	60		0.975593
1	225611756	LBR	non_synonymous_codon	c.22G>A	p.D8N	0.1	54		0.908695
1	228407243	OBSCN	non_synonymous_codon	c.2872G>A	p.G958R	0.14	57		1.21475
1	242511469	PLD5	non_synonymous_codon	c.265G>A	p.V89M	0.14	49		1.09002
1	245245383	EFCAB2	splice_site_variant	c.184-2A>T	p.?	0.11	48		0.803542
2	5833268	SOX11	stop_gained	c.415G>T	p.E139*	0.092	50		0.72755
2	27306591	EMILIN1	non_synonymous_codon	c.2152G>C	p.G718R	0.15	68		0.890014
2	49191091	FSHR	non_synonymous_codon	c.869C>G	p.P290R	0.078	48		0.457611
2	88828643	TEX37	non_synonymous_codon	c.194C>A	p.T65K	0.18	49		0.996141
2	97526998	SEMA4C	non_synonymous_codon	c.1867G>A	p.G623R	0.15	70		0.913232
2	119915319	C1QL2	non_synonymous_codon	c.527A>C	p.K176T	0.095	69		0.566037
2	128390905	MYO7B	non_synonymous_codon	c.5400C>G	p.C1800W	0.2	62		1.15892
2	171260815	MYO3B	non_synonymous_codon	c.2336C>T	p.P779L	0.15	54		nan
2	175976375	ATF2	non_synonymous_codon	c.749G>A	p.R250Q	0.31	43		0.922555
2	179404873	TTN	non_synonymous_codon	c.98020C>T	p.R32674C	0.14	53		0.8064
2	197948092	ANKRD44	splice_site_variant	c.1433+1G>C	p.?	0.11	49		0.668541
2	203500443	FAM117B	non_synonymous_codon	c.533G>A	p.R178K	0.27	58		0.774496
2	230638946	TRIP12	non_synonymous_codon	c.5336C>T	p.T1779I	0.15	47		0.875181
2	231254681	SP140L	non_synonymous_codon	c.907C>A	p.L303I	0.21	43		1.2537
3	36897495	TRANK1	non_synonymous_codon	c.3586T>G	p.F1196V	0.25	41		1.0129
3	47043421	NBEAL2	non_synonymous_codon	c.4794G>C	p.Q1598H	0.14	65		0.547791
3	51274963	DOCK3	non_synonymous_codon	c.2044T>G	p.F682V	0.35	41		1.37465
3	121725895	ILDR1	non_synonymous_codon	c.172G>C	p.V58L	0.1	51		0.391279
3	123046467	ADCY5	non_synonymous_codon	c.1945C>T	p.R649W	0.27	58		0.946185
3	138763351	PRR23C	non_synonymous_codon	c.112G>A	p.E38K	0.3	66		1.10688
3	183772644	HTR3C	non_synonymous_codon	c.203T>C	p.I68T	0.29	63		1.14363
3	195509582	MUC4	non_synonymous_codon	c.8869C>G	p.H2957D	0.36	9		nan
4	1087566	RNF212	non_synonymous_codon	c.483C>A	p.S161R	0.24	57		1.18053
4	8029503	ABLIM2	non_synonymous_codon	c.1250A>G	p.Y417C	0.21	63		1.04665
4	10445240	ZNF518B	non_synonymous_codon	c.2713G>T	p.A905S	0.24	38		1.12585
4	39313170	RFC1	splice_site_variant	c.1384-1G>C	p.?	0.3	66		1.46308
4	48027343	NIPAL1	non_synonymous_codon	c.305C>A	p.T102N	0.3	35		1.4616
4	69795779	UGT2A3	non_synonymous_codon	c.1336A>T	p.I446F	0.23	57		1.13015
4	87692686	PTPN13	non_synonymous_codon	c.5181C>G	p.D1727E	0.16	44		0.794719
4	90857675	MMRN1	non_synonymous_codon	c.2844G>C	p.W948C	0.19	57		0.929719
4	146460988	SMAD1	non_synonymous_codon	c.433G>A	p.E145K	0.19	61		0.94468
4	155411483	DCHS2	non_synonymous_codon	c.1025G>A	p.G342E	0.14	64		0.639278
4	170077635	SH3RF1	non_synonymous_codon	c.589C>G	p.P197A	0.14	49		0.674587
4	177114622	SPATA4	non_synonymous_codon	c.330C>A	p.N110K	0.1	45		0.489573
5	7889376	MTRR	non_synonymous_codon	c.1396A>T	p.S466C	0.2	50		0.688752
5	34840787	TTC23L	non_synonymous_codon	c.11G>A	p.S4N	0.15	59		1.00161
5	74047315	GFM2	non_synonymous_codon	c.308T>G	p.V103G	0.17	52		1.18006
5	82786198	VCAN	non_synonymous_codon	c.352G>T	p.V118F	0.21	52		0.716524
5	94784159	FAM81B	non_synonymous_codon	c.1216T>A	p.Y406N	0.28	55		0.960409
5	133747427	CDKN2AIPNL	non_synonymous_codon	c.119G>A	p.R40H	0.087	58		0.596666
5	133914993	JADE2	non_synonymous_codon	c.2359G>A	p.V787I	0.11	67		0.753809
5	145383688	SH3RF2	non_synonymous_codon	c.716T>C	p.V239A	0.13	51		0.874821
6	8026638	BLOC1S5	non_synonymous_codon	c.346G>A	p.V116I	0.12	43		0.604317
6	24563596	KIAA0319	non_synonymous_codon	c.2582C>T	p.S861L	0.18	57		0.884367
6	27277615	POM121L2	non_synonymous_codon	c.2335A>G	p.T779A	0.13	60		0.651848
6	35965520	SLC26A8	non_synonymous_codon	c.622A>T	p.I208F	0.088	62		0.426577
6	56484763	DST	non_synonymous_codon	c.4069G>C	p.D1357H	0.11	50		0.50229
6	89888758	GABRR1	non_synonymous_codon	c.1171C>T	p.P391S	0.15	57		0.716228
6	108227946	SEC63	non_synonymous_codon	c.769G>A	p.D257N	0.28	38		1.3457
6	110763500	SLC22A16	non_synonymous_codon	c.1130C>G	p.S377C	0.41	50		0.985991
6	138632585	KIAA1244	non_synonymous_codon	c.4138C>A	p.P1380T	0.14	60		0.656542
6	161455353	MAP3K4	non_synonymous_codon	c.215C>A	p.S72Y	0.082	55		0.398138
6	167754628	TTLL2	non_synonymous_codon	c.1240C>G	p.L414V	0.27	40		1.28144
6	168439355	KIF25	non_synonymous_codon	c.440G>A	p.R147H	0.18	44		0.890573
6	168708980	DACT2	non_synonymous_codon	c.1457G>A	p.S486N	0.17	73		0.732506
7	12395757	VWDE	non_synonymous_codon	c.3725A>G	p.D1242G	0.19	52		1.09398
7	27582600	HIBADH	non_synonymous_codon	c.604G>C	p.V202L	0.14	37		0.763397
7	29606037	PRR15	non_synonymous_codon	c.92T>A	p.V31E	0.037	49		0.222976
7	47323416	TNS3	non_synonymous_codon	c.3976G>A	p.G1326S	0.14	52		0.84866
7	48887621	AC004899.1	non_synonymous_codon	c.121C>T	p.R41C	0.18	65		nan
7	50136165	C7orf72	non_synonymous_codon	c.484G>C	p.E162Q	0.11	56		0.641158
7	75601738	POR	non_synonymous_codon	c.196T>C	p.S66P	0.2	63		1.18002
7	100681341	MUC17	non_synonymous_codon	c.6644C>A	p.P2215H	0.071	66		nan
7	102952310	PMPCB	non_synonymous_codon	c.1296G>T	p.R432S	0.13	52		0.781948
7	105206037	RINT1	non_synonymous_codon	c.2128C>T	p.R710W	0.22	60		1.26152
7	107791188	NRCAM	non_synonymous_codon	c.3688T>C	p.F1230L	0.21	54		1.27299
7	120740134	CPED1	non_synonymous_codon	c.904C>T	p.R302C	0.15	48		0.88685
7	141759306	MGAM	non_synonymous_codon	c.3854G>A	p.R1285Q	0.22	40		1.08641
8	11995461	USP17L2	non_synonymous_codon	c.809A>C	p.H270P	0.032	70		nan
8	36691112	KCNU1	non_synonymous_codon	c.1147T>C	p.Y383H	0.26	60		0.967017
8	41550371	ANK1	non_synonymous_codon	c.3776G>A	p.R1259Q	0.1	59		1.11123
8	67577594	VCPIP1	non_synonymous_codon	c.1600A>G	p.N534D	0.061	67		0.666741
8	68334878	CPA6	non_synonymous_codon	c.1175C>A	p.P392H	0.12	60		1.36039
8	143928006	GML	non_synonymous_codon	c.377A>C	p.E126A	0.1	57		1.26853
8	144162634	RP11-520P18.5	non_synonymous_codon	c.80A>G	p.N27S	0.099	63		1.32588
8	145623019	CPSF1	non_synonymous_codon	c.2149G>T	p.A717S	0.12	61		0.756753
9	6252914	IL33	non_synonymous_codon	c.392A>G	p.D131G	0.27	50		1.31308
9	13147549	MPDZ	non_synonymous_codon	c.3739A>T	p.R1247W	0.22	68		1.07434
9	16437446	BNC2	non_synonymous_codon	c.746T>C	p.L249P	0.24	60		1.19564
9	34517320	DNAI1	non_synonymous_codon	c.1856C>A	p.A619D	0.19	54		0.879007
9	43629301	SPATA31A6	non_synonymous_codon	c.209G>A	p.R70Q	0.21	61		0.980921
9	85677605	RASEF	non_synonymous_codon	c.178G>C	p.G60R	0.2	69		0.936926
9	95608625	ZNF484	stop_gained	c.2450G>A	p.W817*	0.14	52		0.680921
9	113704315	LPAR1	non_synonymous_codon	c.179G>C	p.C60S	0.14	54		0.659255
9	130496654	TOR2A	non_synonymous_codon	c.341G>T	p.G114V	0.25	60		1.22912
9	139607122	FAM69B	non_synonymous_codon	c.5G>A	p.R2Q	0.17	65		0.725181
10	44052177	ZNF239	non_synonymous_codon	c.1351C>T	p.R451W	0.32	44		1.19518
10	72026033	NPFFR1	non_synonymous_codon	c.122C>G	p.P41R	0.3	59		1.16406
10	116203793	ABLIM1	non_synonymous_codon	c.1928A>G	p.N643S	0.25	64		0.92313
11	48387417	OR4C5	non_synonymous_codon	c.601G>A	p.D201N	0.22	47		0.923847
11	57886678	OR9I1	non_synonymous_codon	c.239A>G	p.Q80R	0.2	62		1.10754
11	58978190	MPEG1	stop_lost	c.2149T>G	p.*717E	0.23	55		0.996782
11	62296723	AHNAK	non_synonymous_codon	c.5166G>A	p.M1722I	0.25	53		1.02028
11	65685310	C11orf68	non_synonymous_codon	c.502T>G	p.S168A	0.28	65		0.953461
11	89185012	NOX4	non_synonymous_codon	c.205A>G	p.S69G	0.21	67		0.898473
11	113675474	USP28	splice_site_variant	c.2580-1G>C	p.?	0.27	53		0.9259
11	123814231	OR6T1	non_synonymous_codon	c.315C>A	p.F105L	0.13	81		1.11303
11	123814255	OR6T1	stop_gained	c.291C>A	p.C97*	0.12	79		1.01822
11	124845017	CCDC15	non_synonymous_codon	c.542G>A	p.R181H	0.19	54		1.07186
12	56565490	SMARCC2	non_synonymous_codon	c.2065G>A	p.A689T	0.21	54		1.01466
12	65702375	MSRB3	non_synonymous_codon	c.16C>A	p.L6M	0.086	41		0.423022
12	69140435	SLC35E3	non_synonymous_codon	c.278T>G	p.L93R	0.36	57		nan
12	94691110	PLXNC1	non_synonymous_codon	c.3985G>A	p.A1329T	0.16	59		0.766451
12	112708216	HECTD4	non_synonymous_codon	c.1558G>A	p.V520I	0.24	56		1.16879
13	99498271	DOCK9	non_synonymous_codon	c.126C>G	p.Q43E	0.19	58		0.72724
14	24435542	DHRS4	non_synonymous_codon	c.582G>T	p.K194N	0.051	66		0.625674
14	60585051	PCNXL4	non_synonymous_codon	c.1583G>C	p.G528A	0.14	63		0.886623
14	68042550	PLEKHH1	non_synonymous_codon	c.2180G>T	p.G727V	0.11	52		0.676746
14	73989685	HEATR4	non_synonymous_codon	c.172C>A	p.H58N	0.18	54		1.11273
14	76776167	RP11-516J2.1	splice_site_variant	nan	nan	0.11	57		0.669978
14	95054126	SERPINA5	non_synonymous_codon	c.427G>C	p.D143H	0.21	48		1.27708
14	99929838	SETD3	non_synonymous_codon	c.181C>T	p.R61W	0.22	65		1.21814
14	101012883	BEGAIN	non_synonymous_codon	c.131G>A	p.R44Q	0.12	61		0.553701
15	21004987	AC012414.1	non_synonymous_codon	c.301G>A	p.A101T	0.08	66		0.403636
15	45412823	DUOXA1	non_synonymous_codon	c.521G>A	p.R174H	0.31	65		1.13838
15	74425369	ISLR2	non_synonymous_codon	c.274C>A	p.P92T	0.16	59		0.603186
15	75932507	IMP3	initiator_codon_change	c.3G>C	p.M1I	0.32	73		1.22705
15	78825916	HYKK	non_synonymous_codon	c.1026G>T	p.W342C	0.37	55		1.43795
16	314839	ITFG3	non_synonymous_codon	c.1477G>A	p.A493T	0.26	79		1.24762
16	18852990	SMG1	non_synonymous_codon	c.6593T>A	p.L2198Q	0.19	62		0.86331
16	28117810	XPO6	non_synonymous_codon	c.2506G>T	p.D836Y	0.16	70		0.796902
16	56459170	AMFR	non_synonymous_codon	c.70G>A	p.A24T	0.12	61		0.580145
16	58562435	CNOT1	non_synonymous_codon	c.6397C>A	p.L2133M	0.19	42		0.931959
16	75646223	ADAT1	non_synonymous_codon	c.961G>C	p.E321Q	0.061	51		0.294789
17	7247963	ACAP1	non_synonymous_codon	c.850A>C	p.S284R	0.37	58		1.71864
17	11583121	DNAH9	non_synonymous_codon	c.3401T>C	p.L1134P	0.24	46		1.12786
17	18004836	DRG2	non_synonymous_codon	c.661G>A	p.E221K	0.26	75		1.1769
17	35879094	SYNRG	non_synonymous_codon	c.3894C>G	p.I1298M	0.21	76		1.18
17	41055965	G6PC	non_synonymous_codon	c.248G>A	p.R83H	0.39	50		0.970644
17	41861241	C17orf105	non_synonymous_codon	c.475C>T	p.L159F	0.18	55		0.979863
17	45351787	ITGB3	non_synonymous_codon	c.82C>A	p.P28T	0.31	46		0.848933
18	19345792	MIB1	stop_gained	c.289C>T	p.R97*	0.3	50		1.15036
18	43532551	EPG5	non_synonymous_codon	c.1067T>G	p.M356R	0.29	67		1.11325
18	47806277	MBD1	non_synonymous_codon	c.86G>A	p.G29E	0.26	63		0.987684
18	55143872	ONECUT2	non_synonymous_codon	c.1432C>T	p.R478W	0.27	51		1.00657
19	871225	MED16	non_synonymous_codon	c.1934G>T	p.R645L	0.18	65		1.21632
19	3613169	CACTIN	non_synonymous_codon	c.1469G>C	p.R490T	0.049	85		0.341727
19	5843968	FUT3	non_synonymous_codon	c.883G>A	p.D295N	0.14	62		1.02125
19	12501678	ZNF799	non_synonymous_codon	c.1534G>A	p.A512T	0.095	71		0.666784
19	12502756	ZNF799	stop_gained	c.456C>A	p.Y152*	0.15	44		1.05574
19	15355374	BRD4	non_synonymous_codon	c.2249C>T	p.P750L	0.058	58	✔	0.344599
19	17430436	DDA1	non_synonymous_codon	c.280G>A	p.D94N	0.16	55		1.12042
19	19753380	GMIP	non_synonymous_codon	c.68G>C	p.R23P	0.18	51		1.2731
19	35741361	LSR	non_synonymous_codon	c.397C>T	p.R133W	0.18	50		1.22045
19	36967456	ZNF566	non_synonymous_codon	c.4G>A	p.A2T	0.15	59		1.02518
19	40929426	SERTAD1	non_synonymous_codon	c.28C>T	p.R10W	0.11	65		0.694133
19	51323265	KLK1	non_synonymous_codon	c.523G>C	p.V175L	0.26	60		0.900916
19	54652018	CNOT3	non_synonymous_codon	c.1030C>G	p.P344A	0.068	72		0.475446
19	55179387	LILRB4	non_synonymous_codon	c.1264C>G	p.Q422E	0.14	53		0.904571
20	1896014	SIRPA	non_synonymous_codon	c.349G>A	p.G117S	0.12	59		nan
20	5098144	PCNA	non_synonymous_codon	c.554C>A	p.T185K	0.15	45		nan
20	33764501	PROCR	non_synonymous_codon	c.602G>A	p.G201E	0.11	57		0.988941
20	34263035	NFS1	non_synonymous_codon	c.880G>T	p.G294W	0.092	51		0.829763
20	42310458	MYBL2	non_synonymous_codon	c.149G>C	p.G50A	0.1	62		0.933226
20	44664476	SLC12A5	non_synonymous_codon	c.409G>A	p.V137I	0.094	75		0.832574
20	49247275	FAM65C	non_synonymous_codon	c.110C>T	p.A37V	0.093	45		0.841385
20	50238712	ATP9A	splice_site_variant	c.2017-1G>A	p.?	0.09	70		0.797562
20	51872386	TSHZ2	non_synonymous_codon	c.2389G>A	p.D797N	0.07	51		0.6178
21	34400062	OLIG2	non_synonymous_codon	c.892T>A	p.C298S	0.19	68		1.09135
22	40696489	TNRC6B	non_synonymous_codon	c.3739A>G	p.N1247D	0.24	59		0.940176
X	1585207	P2RY8	non_synonymous_codon	c.245A>G	p.Y82C	0.44	67		0.923242
X	63563534	MTMR8	non_synonymous_codon	c.932G>C	p.R311T	0.43	26		1.0818

Calls by Numbers:

	TOTAL_PINDEL	PASS_PINDEL	TOTAL_CAVEMAN	PASS_CAVEMAN	REARR	DEL	INV	TRANSLOC	TAN_DUP
I-H-135074-T1-2-D1-1	1031889	1139	308955	22535	390	111	133	66	80

Patient I-H-135074

View Patient in Leukgen

Individual DMP ID: P-0018770

Gender: MALE

Disease(s): EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Number of WGS Samples: 1

Number of RNAseq Samples: 1

WGS Status:

RNA Status:

CBio Portal Results:

Conpair Results:

RNA Sample: I-H-135074-T1-1-R1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

RNAFUSIONS Results:

High Confidence Fusions:

Rescued Fusions:

View RNAFUSIONS Report

SALMON TSNE Results:

WGS Sample: I-H-135074-T1-2-D1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

Normal used: I-H-135074-N1-1-D1-1

MSISensor: LOW(0.4)

Battenberg Results

Tumor Purity: 0.41

Tumor Ploidy: 2.73

Pindel Results:

Pindel Likely Drivers:

Caveman Results:

Caveman Likely Drivers:

Calls by Numbers:

Integrated Circos:

Mutational Signatures

END REPORT

Patient I-H-135074

View Patient in Leukgen

Individual DMP ID: P-0018770

Gender: MALE

Disease(s): EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Number of WGS Samples: 1

Number of RNAseq Samples: 1

WGS Status:

RNA Status:

CBio Portal Results:

Conpair Results:

RNA Sample: I-H-135074-T1-1-R1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

RNAFUSIONS Results:

High Confidence Fusions:

Rescued Fusions:

View RNAFUSIONS Report

SALMON TSNE Results:

WGS Sample: I-H-135074-T1-2-D1-1

Disease: EMBRYONAL RHABDOMYOSARCOMA (ERMS)

Tissue Site: Abdomen Diaphragm

Days since birth at collection: 6898

Normal used: I-H-135074-N1-1-D1-1

MSISensor: LOW(0.4)

Battenberg Results

Tumor Purity: 0.41

Tumor Ploidy: 2.73

View Raw Battenberg Images

Pindel Results:

Pindel Likely Drivers:

View Passed Coding Indel Calls

Caveman Results:

Caveman Likely Drivers:

View Passed SNV Coding Calls

Calls by Numbers:

Integrated Circos:

Mutational Signatures

View 96 Mutational Context

END REPORT