Analysis report

NGS Analysis Report

SYNTHETIC-001

Sample information

Patient name	<PATIENT_NAME>	Personal identity number	<PERSONAL_IDENTITY_NUMBER>	Sample ID	SYNTHETIC-001
Sample type	<SAMPLE_TYPE>	Registration date	<REGISTRATION_DATE>	Clinical question	Synthetic analysis
Analysis method	NGS - synthetic demonstration	Analysis performed by	Example Diagnostics Center	Assay	Demonstration panel
Run	SYNTHETIC-RUN	Generated at	2026-01-01	Generated by	Demo User
Report ID	DEMO-REPORT-001

Analysis report

NGS Analysis Report

SYNTHETIC-001

Sample information

Patient name	<PATIENT_NAME>	Personal identity number	<PERSONAL_IDENTITY_NUMBER>
Sample ID	SYNTHETIC-001	Sample type	<SAMPLE_TYPE>
Registration date	<REGISTRATION_DATE>	Clinical question	Synthetic analysis
Analysis method	NGS - synthetic demonstration	Analysis performed by	Example Diagnostics Center
Assay	Demonstration panel	Run	SYNTHETIC-RUN
Generated at	2026-01-01	Generated by	Demo User
Report ID	DEMO-REPORT-001

Clinically relevant SNVs and small INDELs

Gene	HGVS protein	VAF (%)	Hotspot	Classification
BRAF	p.Val600Glu	24	Yes	Reviewed synthetic classification
EXAMPLE2	p.(Example34del)	18	No	Reviewed synthetic classification

Copy-number alterations

Gene	Copy number	Classification
EXAMPLE1	6	Reviewed synthetic classification

Fusions

Genes (exons)	Locus	Classification
EML4(13)::ALK(20)	chr2:42400000;chr2:29400000	Reviewed synthetic classification

Other clinically relevant findings

Gene	Source type	Variant class	Classification
EXAMPLE3	Imbalance	RNA	Reviewed synthetic classification

Conclusion

Reviewed synthetic conclusion. For demonstration only.

Sample	Status
SYNTHETIC-001	Reviewed

Detected mutations

BRAF: p.Val600Glu
Gene	BRAF	Type	SNV	Transcript	NM_004333.6
Consequence	missense_variant	HGVS cDNA	c.1799T>A	HGVS protein	p.Val600Glu
Chromosome	7	Position	140753336	VAF (%)	24
Hotspot	Yes	Classification	Reviewed synthetic classification

EXAMPLE2: p.(Example34del)
Gene	EXAMPLE2	Type	INDEL	Transcript	DEMO_TRANSCRIPT
Consequence	inframe_deletion	HGVS cDNA	c.100_102del	HGVS protein	p.(Example34del)
Chromosome	1	Position	100100	VAF (%)	18
Hotspot	No	Classification	Reviewed synthetic classification

Detected copy-number alterations

EXAMPLE1
Gene	EXAMPLE1	Change	Gain	Copy number	6
CNV ratio	3.1	Locus	chr1:100000-200000
Classification	Reviewed synthetic classification

Detailed fusion results

EML4(13)::ALK(20)
Variant-ID	DEMO-FUSION-001	Genes (exons)	EML4(13)::ALK(20)	Locus	chr2:42400000;chr2:29400000
Oncomine driver gene	ALK	Fusion type	RNA fusion	Supporting reads	37
Unique molecules	18	5′ breakpoint	chr2:42400000	3′ breakpoint	chr2:29400000
Classification	Reviewed synthetic classification

Details of other findings

EXAMPLE3: Imbalance
Gene	EXAMPLE3	Source type	Imbalance	Variant class	RNA
Locus	chr3:100000-200000	Imbalance score	2.1	Imbalance p-value	0.01
Breakpoint range	100000-200000
Classification	Reviewed synthetic classification

Analysis description

Method

Synthetic analysis description.

Scope

Demonstration of report content and layout.

Table 1: Analyzed genes

BRAF	EXAMPLE1	EXAMPLE2	EXAMPLE3	EML4	ALK	EXAMPLE4	EXAMPLE5	EXAMPLE6	EXAMPLE7	EXAMPLE8
EXAMPLE9	EXAMPLE10	EXAMPLE11	EXAMPLE12	EXAMPLE13	EXAMPLE14	EXAMPLE15	EXAMPLE16	EXAMPLE17	EXAMPLE18	EXAMPLE19
EXAMPLE20	EXAMPLE21	EXAMPLE22	EXAMPLE23	EXAMPLE24

Classification description

Example classification description.

References

Example reference.