Table 1.
Patient | Chr | Start | Stop | Reference | Alternative | Gene | Mutation | Exonic Function | Protein Change | Known |
---|---|---|---|---|---|---|---|---|---|---|
p5t | 5 | 112174631 | 112174631 | C | T | APC | SNV | Stop gain | p.Arg1114Ter | rs121913331, COSM13125 |
p10t | 5 | 112151185 | 112151185 | T | G | APC | SNV | Splice Region variant | - | |
p14t | 5 | 112155021 | 112155022 | TG | - | APC | deletion | Frame shift variant | p.Met431ArgfsTer12 | |
p4low | 5 | 112175639 | 112175639 | C | T | APC | SNV | Stop gain | p.Arg1450Ter | rs121913332, COSM13127 |
p6low | 5 | 112174249 | 112174249 | T | A | APC | SNV | Stop gain | p.Tyr986Ter | |
p7low | 5 | 112174129 | 112174129 | A | - | APC | deletion | Frame shift variant | p.Cys947ValfsTer8 | |
p7low | 5 | 112175255 | 112175255 | G | T | APC | SNV | Stop gain | p.Glu1322Ter | |
p10low | 5 | 112175390 | 112175391 | - | A | APC | Insertion | Frame shift variant | p.Thr1368AspfsTer7 | |
p11low | 5 | 112175639 | 112175639 | C | T | APC | SNV | Stop gain | p.Arg1450Ter | rs121913332, COSM13127 |
p12low | 5 | 112155031 | 112155032 | - | A | APC | Insertion | Frame shift variant | p.Asn436LysfsTer8 | |
p2t | 17 | 7578510 | 7578510 | G | - | TP53 | Deletion | Frame shift variant | p.C141Afs*29 | COSM69019 |
p10t | 17 | 7576889 | 7576890 | - | T | TP53 | Insertion | Frame shift variant | p.K320Efs*17 | |
p4t | 17 | 70119862 | 70119863 | - | TTCGA | SOX9 | Insertion | Missense mutation | p.V291Sfs*94 | |
p5t | 17 | 70119855 | 70119856 | - | CGAGA | SOX9 | Insertion | Frame shift variant | p.F289Rfs*96 | |
p10t | 17 | 70118889 | 70118889 | A | A | SOX9 | SNV | Frame shift variant | p.F154Y | |
p4low | 3 | 41274898 | 41274898 | G | C | CTNNB1 | SNV | Missense mutation | p.Trp383Ser | |
p13low | 3 | 41266124 | 41266124 | A | G | CTNNB1 | SNV | Missense mutation | p.Thr41Ala | rs121913412 |
p14low | 3 | 41266097 | 41266097 | G | A | CTNNB1 | SNV | Missense mutation | p.Asp32Asn | rs28931588 |
p14low | 4 | 153258983 | 153258983 | G | A | FBXW7 | SNV | Stop gain | p.Arg278Ter | |
p14t | 4 | 153268102 | 153268102 | C | - | FBXW7 | Deletion | Frame shift variant | p.Glu236AsnfsTer3 |
Chr = Chromosome.