Data in PDF; extracted raw data to Excel.

Obtained Ref/Alt by splitting genotype column for substitutions

Obtained Ref/Alt for indels using Transvar.

SampleID was generated using the familiy ID plus "-003". Table S6 shows all probands have the identifier 03 of the family, and other papers from the Stephen Scherer group (as well as the MSSNG project)  now using the suffix -003 (or -001/-002 for mother/father respectively.)

X chromosome variant towards the bottom included errors in the genotype (ref was equal to alt). For these, we ran Transvar using the cDNA variant notation to obtain the genomic variant ref and alt.

The 32 base deletion on SCN2A:166170551 was updated by converting the cDNA change to genomic using Transvar.