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Table 1 Variants in ORF-Y and ORF-Z. Variants that are synonymous when translated in the reading frame of the main POLG ORF or that are listed as UTR variants, with their predicted effects on the translation product of ORF-Y or ORF-Z

From: Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon

rsID

Ref > Alt

Position (Anchor)

ORF-Y

ORF-Z

768005050

G>A

chr15:89333152 (GRCh38.p12)

no change

not in ORF

1057522857

C>T

chr15:89330213 (GRCh38.p12)

G259S

not in ORF

750915606

G>A

chr15:89333227 (GRCh38.p12)

P194S

not in ORF

766842881

G>C

chr15:89333233 (GRCh38.p12)

L192V

not in ORF

1028326668

C>T

chr15:89333239 (GRCh38.p12)

G190R

not in ORF

886044612

C>T

chr15:89333254 (GRCh38.p12)

G185S

not in ORF

1057520491

G>A

chr15:89333266 (GRCh38.p12)

P181S

not in ORF

375445567

G>A/C

chr15:89333271 (GRCh38.p12)

A179G

not in ORF

1567194008

A>G

chr15:89333283 (GRCh38.p12)

V175A

not in ORF

1567194019

C>T

chr15:89333287 (GRCh38.p12)

A174T

not in ORF

779981823

C>T

chr15:89333302 (GRCh38.p12)

G169R

not in ORF

761417163

G>A

chr15:89333332 (GRCh38.p12)

P159S

not in ORF

558958919

C>A/G/T

chr15:89333371 (GRCh38.p12)

A146T/A146S/A146P

not in ORF

1057524724

C>A

chr15:89333374 (GRCh38.p12)

A145S

not in ORF

1057521700

G>C

chr15:89333419 (GRCh38.p12)

L130V

not in ORF

56221189

C>A

chr15:89333422 (GRCh38.p12)

A129S

not in ORF

376266682

G>A

chr15:89333425 (GRCh38.p12)

R128W

not in ORF

144439703

G>A/C

chr15:89333491 (GRCh38.p12)

R106G/R106W

not in ORF

774537232

G>A/C/T

chr15:89333518 (GRCh38.p12)

L97I/L97V/L97F

not in ORF

1241802528

A>G

chr15:89333535 (GRCh38.p12)

I91T

not in ORF

751225754

C>A/G/T

chr15:89333545 (GRCh38.p12)

A88T/A88P/A88S

not in ORF

745310138

T>C

chr15:89333569 (GRCh38.p12)

I80V

not in ORF

1555454318

T>C

chr15:89333575 (GRCh38.p12)

S78G

not in ORF

372383277

C>A

chr15:89333578 (GRCh38.p12)

A77S

not in ORF

796052878

C>T

chr15:89333593 (GRCh38.p12)

A72T

not in ORF

587781118

T>A/C

chr15:89333596 (GRCh38.p12)

T71A/T71S

not in ORF

587781117

C>G/T

chr15:89333599 (GRCh38.p12)

A70T/A70P

not in ORF

1453538834

C>T

chr15:89333602 (GRCh38.p12)

A69T

not in ORF

766501874

C>T

chr15:89333605 (GRCh38.p12)

A68T

not in ORF

570989155

C>T

chr15:89333626 (GRCh38.p12)

A61T

not in ORF

794727268

C>A

chr15:89333641 (GRCh38.p12)

A56S

not in ORF

587781116

G>A

chr15:89333668 (GRCh38.p12)

R47C

not in ORF

944054671

T>C/G

chr15:89333695 (GRCh38.p12)

S38R/S38G

not in ORF

1378670216

C>G

chr15:89333701 (GRCh38.p12)

G36R

not in ORF

535213599

G>A/C

chr15:89333716 (GRCh38.p12)

R31G/R31C

not in ORF

1482684558

G>A

chr15:89333722 (GRCh38.p12)

R29C

not in ORF

1060504037

G>A

chr15:89333725 (GRCh38.p12)

R28W

not in ORF

1057523280

C>T

chr15:89333734 (GRCh38.p12)

E25K

not in ORF

892999189

G>A/C

chr15:89333740 (GRCh38.p12)

L23V/L23L

not in ORF

750010376

C>A

chr15:89333775 (GRCh38.p12)

R11L

not in ORF

1284152513

A>C

chr15:89333782 (GRCh38.p12)

S9A

not in ORF

1057521902

G>A

chr15:89333802 (GRCh38.p12)

P2L

not in ORF

553331485

T>C

chr15:89333821 (GRCh38.p12)

not in ORF

no change

3087378

G>A

chr15:89333834 (GRCh38.p12)

not in ORF

S20F