Table 2 Candidate disease genes from the gene prioritisation dataset; the most highly expressed genes in mouse fetal heart tissue at E14.5.

Patient research number	Gene	HUGO ID	Variant Consequence	Gnomad AF	SIFT	Polyphen	CADD score	LOEUF score	GTEX expression (median TPM)	Rank mouse heart expression E14.5
10	CCT2	HGNC:1615	Missense	Absent	Deleterious (0.01)	Probably damaging (0.984)	29.2	0.23	38.83	98.6
11	APLP2	HGNC:598	Missense	Absent	Deleterious(0)	Probably damaging (0.999)	24.4	0.39	99.92	98.5
12	PYGB	HGNC:9723	Missense	Absent	Tolerated (0.11)	Benign(0)	22.5	0.89	100.2	97.9
13	KIAA0100	HGNC:28960	Missense	Absent	Tolerated (1)	Benign (0.056)	17.1	0.42	17.39	95.4
14	AKAP13	HGNC:371	Missense	Absent	Deleterious (0.03)	Probably damaging (0.998)	29.2	0.29	22.68	94.4
15	ZC3H4	HGNC:17808	Missense	Absent	Tolerated (1)	Probably damaging (0.997)	21.8	0.054	5.264	89.8
16	SIPA1L1	HGNC:20284	Missense	Absent	Tolerated(0.79)	Benign (0.074)	17.75	0.17	1.071	88.7
17	GOLGA6A	HGNC:32206	Frameshift	Absent	–	–	–	1.18	0	88.4
18	UBR2	HGNC:21289	Missense	Absent	Tolerated (0.36)	Benign (0.009)	18.66	0.21	7.637	87.3
19	NUP98	HGNC:8068	Missense	Absent	Tolerated (0.27)	Possibly damaging (0.544)	23.4	0.12	9.499	87.2
20	HMCN1	HGNC:19194	Missense	Absent	Tolerated (0.12)	Benign (0.003)	15.55	0.48	0.923	85.9

The mouse expression data was derived from RNA sequencing of tissue from E14.5 mouse embryos (for published data and methodology see [10, 19]). Datasets were from the following tissues: left and right atria, left ventricle (with interventricular septum, aortic and mitral valves), and right ventricle (with pulmonary and tricuspid valves). The average of rpm (reads assigned per million mapped reads) of each gene from each chamber was used as the measure of overall heart expression. The table lists: Patient research number, Gene name, HUGO ID, variant features (including in silico tool prediction outcomes), LOEUF score, human heart GTEX expression and ranked mouse heart expression at E14.5.
AF allele frequency.

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