Gene Promotor 5′ UTR Exon 1 5′5′ 3′ UTR Exon 2 3′3′ Splicing Exon 2 Splicing container colour labelregulatory region colour labelTF binding site container colour labelintergenic variant colour labelupstream gene variant container colour label5 prime UTR variant colour labelstart retained variant colour labelstart lost container colour labelsplice donor variant colour labelsplice acceptor variant container colour labelsplice region variant colour labelsplice donor 5th base colour labelsplice donor region colour splice polypyrimidine tract colour labelintron variant container colour label3 prime UTR variant container colour labeldownstream gene variant container colour labelsynonymous variant colour labelmissense variant colour labelinframe insertion colour labelinframe deletion colour labelstop gained colour labelframeshift variant colour labelcoding sequence variant container colour labeltranscript ablation colour labeltranscript amplification colour labelprotein altering variant colour labelmature miRNA variant colour labelNMD transcript variant colour labelnon coding transcript exon variant colour labelnon coding transcript variant colour labelTFBS ablation / amplification colour labelfeature elongation colour labelfeature truncation colour labelcoding transcript variant colour labelsequence variant container colour labelstop retained variant colour labelincomplete terminal codon variant colour labelstop lost