Table 1.

Somatic variants in MUC17 or PCNX1 that changed representation after NAC were identified in 3 of 6 patients.

GenePatient numberPosition, reference, variant, descriptionVariant frequency, depthEffectImpact SnpEff Polyphen SIFT
MUC172Chr7, 1010428420.184MissenseModerate
C165p.Thr3809MetDamaging
T0.092
SNV
4Chr7, 1010333190.052MissenseModerate
T187p.Ser635ProBenign
C0.802
SNV
6Chr7, 1010384400.034MissenseModerate
C165p.Arg2342SerBenign
A1
SNV
PCNX14Chr14, 709780260.118Frameshift/High
CACAGG30prematuren/a
Cterminationn/a
Deletionp.Thr564FS
6Chr14, 709782040.136Frameshift/High
GAT45prematuren/a
Gterminationn/a
Deletionp.Asp623FS
  • Note: Details included are as follows: chromosomal position in the reference genome, mutant allele frequency (relative to 1), mutant read depth, and effects of variants on encoded proteins in terms of primary protein sequence and predictions of functional impact (from SnpEff, Polyphen, and SIFT). SIFT (Sorting Intolerant from Tolerant) values represent predicted functional impact on scale of 0–1, with 0 being the more damaging end of the scale.

  • Abbreviations: n/a, not applicable; SNV, single nucleotide variant.