PMID: 31128889

Germline Variants Impact Somatic Events during Tumorigenesis.

Trends in genetics : TIG
JR Ramroop, MM Gerber, AE Toland
2019-07

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
7-111718012-T-A DOCK4 c.38-73826A>T - IntronicSNV - 1/51
7-111718012-T-C DOCK4 c.38-73826A>G - IntronicSNV - 1/51
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
7-104402709-G-A LHFPL3 c.682+25351G>A - IntronicSNV - 2/2
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
7-55086755-G-C EGFR c.1-216G>C - 5-UTRSNV 1/28 -
7-55086755-G-T EGFR c.1-216G>T - 5-UTRSNV 1/28 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
2-212409848-C-A ERBB4 c.2487+16780G>T - IntronicSNV - 20/26
5-56111582-A-T MAP3K1 c.182A>T p.Gln61Leu Missense 1/20 -
22-30351473-T-C MTMR3 c.1-15576T>C - IntronicSNV - 1/19
19-2109157-T-G AP3D1 c.3400A>C p.Ile1134Leu Missense 30/32 -
5-56210923-G-A SETD9 c.812+130G>A - IntronicSNV - 5/5
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
22-38563471-C-T PLA2G6 c.209+1754G>A - IntronicSNV - 2/15
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
7-104382873-T-C LHFPL3 c.682+5515T>C - IntronicSNV - 2/2
19-2109157-T-C AP3D1 c.3400A>G p.Ile1134Val Missense 30/32 -
22-39358037-A-C APOBEC3A c.470-66A>C - IntronicSNV - 3/4
7-55251593-A-G EGFR c.2469+2422A>G - IntronicSNV - 20/27
20-54961541-A-T AURKA c.91T>A p.Phe31Ile Missense 3/9 -
5-56111582-A-G MAP3K1 c.182A>G p.Gln61Arg Missense 1/20 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -