Table 2. Summary of germline mutations.

Chr	Position	Reference allele	Mutant allele	Variant class	Gene symbol	Coding variant type
13	37439827	G	A	SNP	SMAD9	Stopgain
16	31374391	A	AG	Insertion	ITGAX	Frameshift_insertion
22	32875242	GT	G	Deletion	FBXO7	Frameshift_deletion
22	37882124	GA	G	Deletion	MFNG	Frameshift_deletion
22	42473987	G	A	SNP	FAM109B	Stopgain
4	175443135	CAG	C	Deletion	HPGD	Frameshift_deletion
5	637664	C	T	SNP	CEP72	Stopgain
6	154428918	CG	C	Deletion	OPRM1	Frameshift_deletion
9	125288771	T	A	SNP	OR1N1	Stopgain

Abbreviation: SNP, single-nucleotide polymorphism.