Table 2.

Pathogenicity prediction of MED12 Exon 2 somatic mutations by various in-silico algorithms.

	Allele	CDS_position	Amino_acids	Codons	SIFTa	PolyPhenb	CADD_scorec	FATHMM_scored
X:71119380-71119380	T/G	107	p.Leu36Arg	cTg/cGg	0	0.997	26.8	0.77474
X:71119386-71119386	C/G	113	p.Ala38Gly	gCc/gGc	0.02	0.689	24.8	0.59056
X:71119403-71119403	G/A	130	p.Gly44Ser	Ggt/Agt	0	1	27.3	0.86901
X:71119403-71119403	G/C	130	p.Gly44Arg	Ggt/Cgt	0	1	26.4	0.87129
X:71119403-71119403	G/T	130	Gly44Cys	Ggt/Tgt	0	1	27	0.87129
X:71119404-71119404	G/A	131	p.Gly44Asp	gGt/gAt	0	1	26.9	0.87052
X:71119404-71119404	G/C	131	p.Gly44Ala	gGt/gCt	0	0.999	25.1	0.86901
X:71119437-71119439	A/T	164	p.Glu55Val	gAg/gTg	0	0.941	27.3	0.62785

^aSIFT ≤ 0.05 = Deleterious.

^bPolyPhen >0.5–1 = Pathogenic.

^cCADD_score ≥ 25 = Lethal.

^dFatham ≥ 0.5 = Damaging.