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. Author manuscript; available in PMC: 2023 May 1.
Published in final edited form as: Genet Med. 2022 Jan 29;24(5):986–998. doi: 10.1016/j.gim.2022.01.001

Table 1.

Gene variants used to test Somatic SOP

Gene Symbol KRAS BRAF PIK3CA IDH1 EZH2 TERT FLT3 PTEN TP53 RB1
Transcript ID NM_004985.5 NM_004333.6 NM_006218.4 NM_005896.4 NM_004456.4 NM_198253.3 NM_004119.3 NM_000314.6 NM_000546.5 NM_000321.2
Variant p.Gly12Ala p.Pro14Arg p.Met1? p.Phe32Val c.-7-2A>C c.-124C>T p.Asp835Tyr c.-9C>G p.Pro47Ser p.Ile124ArgfsTer6
p.Gln61Lys p.Ala31Gly p.Ile391Met c.123-4C>T p.Asp136Val c.-146C>T p.Asp835Glu p.His123Arg p.Val73Met p.Ser443Ter
p.Ser65Ile p.Pro403LeufsTer8 p.Glu418Lys p.Val71Ile p.Asp233Gly c.-124C>A p.Asp835His p.Arg130Gln p.Cys124Ter c.607+1G>A
p.Arg164Gln p.Asp445His p.Glu453Lys p.Arg132His p.Val626Met c.-332C>T p.Asp835Val p.Thr131Ile p.Cys135Gly c.2211+5G>T
p.Asn486_Pro490del p.Glu545Ala p.Arg132Cys p.Arg658Thr c.-245T>C p.Asp835Ile p.Leu182Ser p.Val173Met c.1216-29A>G
p.Gly469Ala p.Lys733Arg p.Arg132Ser p.Ala682Gly p.Arg230Ter p.Asn676Lys p.Leu193= p.Glu180Lys p.Gln689His
p.Gly469Glu p.His1047Gln p.Val178Ile p.Ala682Val p.Trp581Ter p.Tyr842Cys p.Pro204Ala p.Glu298Lys p.Ser567Leu
p.Asp594Asn p.His1047Arg p.Asp220Gly p.Arg684Cys p.Phe691Leu c.634+5G>C p.Gly334Arg p.Trp563Leu
p.Val600Lys p.His1065Tyr p.Glu262Lys p.Arg690His p.Tyr693Cys p.Lys322Ter p.Ala347Asp p.Arg661Trp
p.Lys601Glu p.Asn1068LysfsTer5 p.Ser695Leu p.Tyr693Asn p.Pro354Leu p.His365Tyr p.Glu554Lys
p.Tyr731Phe p.Tyr606Cys
p.Tyr731His
p.Tyr646Phe

“p.“ denotes the variant at the protein level, “c.“ denotes the variant at the cDNA level. Note, the first 5 TERT variants are in promoter region and the negative number indicates the number of base pairs upstream of the ATG translation start site.