Table 4.

Examples of novel variants in six genes found in the Border and Bearded Collie contigs.

Contig ID	Gene ID	Contig Seq	Accession ID	Dog Disease	Affected Breeds	Human Disease
bc_87005	COL9A3	partial CDS in last exon due to gap in CGR	NP_001184100.1	Oculoskeletal dysplasia 1	Samoyed, Labrador Retriever	Stickler Syndrome, Type 1; Marshall Syndrome
bc_134555	DLX6	putative splice variant	NP_005213.3	Cleft palate 1	Nova Scotia Duck Tolling Retriever	Pierre Robin Syndrome
bc_156488	FAM161A	putative splice variant	XP_005626198.1	Progressive retinal atrophy, type 3	Tibetan Spaniel, Tibetan Terrier	Retinitis pigmentosa 28
bc_162349	RASGRP1	putative splice variant	AAX76907.1	Thrombopathia	Eskimo Spitz, Bassett Hound, Landseer Newfoundland	Storage pool platelet disease
bc_85943	RD3	putative splice variant	NP_898882.1	Rod-cone dysplasia 2	Rough Collie, Smooth Collie	Leber congenital amaurosis 12
bc_110123 & bc_92297	SCARF2	partial CDS in exons 4, 5, 12 due to gap in CGR	AAH00584.2	van den Ende-Gupta syndrome	Wirehaired Fox Terrier	van den Ende-Gupta syndrome

Table includes a description of the novel content within the contig, associated dog or human disease, and the affected breeds.