id chr pos ref alt transcript_stable NCBI_geneid prediction model tree_vote note splicesite distance_from_splicesite disease_mutation polymorphism 1 21 33039603 A C ENST00000270142 6647 disease causing (ClinVar) simple_aae 42|58 ClinVar 1 21 33039603 A C ENST00000389995 6647 disease causing (ClinVar) simple_aae 43|57 ClinVar 2 2 233391374 T C ENST00000457943 1144 disease causing (ClinVar) 5utr 61|239 11 ClinVar 2 2 233391374 T C ENST00000258385 1144 disease causing (ClinVar) simple_aae 99|1 11 ClinVar 2 2 233391374 T C ENST00000543200 1144 disease causing (ClinVar) simple_aae 99|1 11 ClinVar 2 2 233391374 T C ENST00000536614 1144 disease causing (ClinVar) simple_aae 98|2 11 ClinVar