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Table 1 Variant annotation, by minor allele frequency category, for variants present in at least 5 copies in the unrelated exome sample and in the family WGS sample

From: Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19

Sample

Variant type

0.1 < MAFa ≤ 0.5

0.01 < MAF ≤ 0.1

MAF ≤ 0.01

Unrelated exome sample

Coding

All coding

5956

6878

13776

Synonymous

3240

3329

6159

Non-synonymous

2647

3450

7389

Highly Deleterious

340

833

1979

Non-coding

5′ UTRb

165

170

361

3′ UTR

309

335

588

Family WGS sample

Coding

All coding

15270

16412

23872

Synonymous

8089

7743

10061

Non-synonymous

6828

8275

13180

Highly Deleterious

549

1159

1996

Non-coding

5′ UTR

3142

3057

4093

3′ UTR

16628

16688

21885

  1. a MAF minor allele frequency. b UTR untranslated region