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Copy pathglio_variants.txt
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glio_variants.txt
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Sample Gene Alteration Type
4526 TP53 c.329G>C ;p.R110P missense
4526 IDH1 c.395G>A ;p.R132H missense
4587 IDH1 c.394C>A ;p.R132S missense
4587 TP53 c.817C>T ;p.R273C missense
4587 RB1 c.1072C>T ;p.R358* stop
4588 TERT c.1-124C>T ;p.? promoter
4588 MET c.504G>T ;p.E168D missense
4588 PIK3CA c.3140A>T ;p.H1047L missense
4588 IDH1 c.395G>A ;p.R132H missense
4589 TP53 c.527_537del11 ;p.C176* stop
4589 NF1 c.3445A>G ;p.M1149V missense
4589 CDKN2A deletion del
4590 TP53 c.413C>T ;p.A138V missense
4590 MET c.1039G>A ;p.A347T missense
4590 ATRX c.2711T>G ;p.L904* stop
4590 IDH1 c.395G>A ;p.R132H missense
4590 ATRX c.3374_3379delCTGATA ;p.S1125* stop
4591 ATRX c.3145dupA ;p.I1049fs fs
4591 TP53 c.627_628insCAGA ;p.N210Qfs fs
4591 IDH1 c.394C>G ;p.R132G missense
4591 TP53 c.613T>C ;p.Y205H missense
4591 TP53 c.614A>C ;p.Y205S missense
4591 CDKN2A deletion del
4593 PTEN c.769delT ;p.F257fs fs
4593 PIK3CA c.1A>G ;p.M1V missense
4593 NF1 c.7300C>T ;p.Q2434* stop
4594 TERT c.1-124C>T ;p.? promoter
4594 EGFR c.2318A>G ;p.H773R missense
4594 EGFR amp amp
4594 EGFRvIII deletion del
4594 CDKN2A deletion del
4594 PTEN deletion del
4595 TERT c.1-146C>T ;p.? promoter
4595 PTEN Deletion del
4595 CDKN2A Deletion del
4596 TP53 c.764T>G ;p.I255S missense
4596 ATRX c.6545A>G ;p.K2182R missense
4596 IDH1 c.395G>A ;p.R132H missense
4597 TERT c.1-124C>T ;p.? promoter
4597 PTEN Deletion del
4597 RB1 Deletion del
4597 IDH2 Deletion del
4598 TERT c.1-124C>T ;p.? promoter
4598 CDK6 c.659G>A ;p.R220H missense
4598 EGFR c.368C>T ;p.S123F stop
4598 MET amp amp
4598 EGFR amp amp
4599 RB1 c.2107-1G>C ;p.? splice
4599 TERT c.1-124C>T ;p.? promoter
4599 PTEN c.388C>T ;p.R130* stop
4599 TP53 c.706T>A ;p.Y236N missense
4600 ATRX c.633-1G>A ;p.? splice
4600 ATRX c.3133_3137delAAAAG ;p.K1045fs*1 fs
4600 TP53 c.395A>G ;p.K132R missense
4600 TP53 c.277delC ;p.L93fs*30 fs
4600 IDH1 c.395G>A ;p.R132H missense
4601 TERT c.1-146C>T ;p.? promoter
4601 EGFR amp amp
4601 EGFRvIII deletion del
4601 CDKN2A deletion del
4601 PTEN deletion del
4603 PTEN c.448G>T ;p.E150* stop
4603 EGFR amp amp
4603 CDKN2A deletion del
4605 MYCN c.816T>G ;p.D272E missense
4605 IDH1 c.395G>A ;p.R132H missense
4605 TP53 c.839G>A ;p.R280K missense
4605 ATRX c.2788_2789delCT ;p.S930Ffs*7 fs
4606 TERT c.1-124C>T ;p.? promoter
4606 IDH1 c.395G>A ;p.R132H missense
4608 CIC c.2583C>A ;p.S861R missense
4608 KIAA/BRAF KIAA/BRAF fusion fusion
4608 CDKN2A Deletion del
4608 DDX3X Deletion del
4732 TP53 c.584T>C ;p.I195T missense
4732 IDH2 c.515G>T ;p.R172M missense
4733 TERT c.1-124C>T ;p.? promoter
4733 ATRX c.1928A>C ;p.E643A missense
4733 IDH1 c.395G>A ;p.R132H missense
4736 TP53 c.403T>C ;p.C135R missense
4736 IDH1 c.395G>A ;p.R132H missense
4736 ATRX c.3461C>G ;p.S1154* stop
4736 TP53 c.306delC ;p.T102fs fs
4737 IDH1 c.395G>A ;p.R132H missense
4737 TP53 c.548C>G ;p.S183* stop
4738 TERT c.1-124C>T ;p.? promoter
4738 TP53 c.455C>G ;p.P152R missense
4738 CDK6 amp amp
4738 MYCN amp amp
4740 TERT c.1-124C>T ;p.? promoter
4740 MET c.504G>T ;p.E168D missense
4740 TP53 c.820G>A ;p.V274I missense
4741 TERT c.1-124C>T ;p.? promoter
4741 IDH1 c.395G>A ;p.R132H missense
4742 TERT c.1-146C>T ;p.? promoter
4742 NF1 c.420_428delGGTTTTATT ;p.141_143delVLF inframe
4742 TP53 c.761T>C ;p.I254T missense
4742 TP53 c.455C>T ;p.P152L missense
4742 IDH1 c.395G>A ;p.R132H missense
4742 TP53 c.743G>A ;p.R248Q missense
4743 IDH1 c.395G>A ;p.R132H missense
4743 CIC c.637C>T ;p.R213W missense
4745 PTCH1 c.3911_3912delAC ;p.D1304Afs fs
4745 IDH1 c.395G>A ;p.R132H missense
4745 TP53 c.701A>G ;p.Y234C missense
4746 ATRX c.2978delA ;p.K993fs fs
4746 TP53 c.524G>A ;p.R175H missense
4747 TP53 c.395A>G ;p.K132R missense
4747 ATRX c.2216_2217delAA ;p.K739Rfs fs
4747 IDH1 c.395G>A ;p.R132H missense
4752 NF2 c.1018G>A ;p.A340T missense
4752 H3F3A c.83A>T ;p.K28M missense
4752 MET c.40C>T ;p.L14F missense
4752 TP53 c.742C>T ;p.R248W missense
4753 PIK3CA c.1633G>A ;p.E545K missense
4753 IDH1 c.395G>A ;p.R132H missense
4753 TP53 c.817C>T ;p.R273C missense
4754 TP53 c.580C>T ;p.L194F missense
4754 IDH1 c.395G>A ;p.R132H missense
4755 TP53 c.527G>A ;p.C176Y missense
4755 IDH1 c.395G>A ;p.R132H missense
4755 TP53 c.817C>T ;p.R273C missense
4756 NF2 c.447+1G>A ;p.? splice
4758 MYCN c.1093C>A ;p.P365T missense
4759 AKT1 c.49G>A ;p.E17K missense
4760 NF2 c.1341-2A>G ;p.? splice
4822 BRAF c.1799T>A ;p.V600E missense
6623 H3F3A c.83A>T ;p.K28M missense
6623 TP53 c.817C>T ;p.R273C missense
7521 TP53 c.551_554delATAG ;p.D184fs*62 fs
7521 H3F3A c.83A>T ;p.K28M missense
7521 TP53 c.839G>A ;p.R280K missense
7521 DDX3X Deletion del
7667 ATRX c.2832_2836del ;p.E944fs fs
7667 H3F3A c.103G>A ;p.G35R missense
7667 TP53 c.844C>T ;p.R282W missense
1002MB DDX3X deletion del
1008EG EGFR amp amp
2011PA KIAA/BRAF KIAA/BRAF fusion fusion
2012PA KIAA/BRAF KIAA/BRAF fusion fusion
2118PA KIAA/BRAF KIAA/BRAF fusion fusion
888A2 TP53 c.919+1G>A ;p.? splice
888A2 NF1 c.528T>A ;p.D176E missense
888A2 IDH1 c.394C>A ;p.R132S missense
970B1 ATRX c.2648_2651delAAGA ;p.Q883Rfs fs
970B1 IDH1 c.395G>A ;p.R132H missense
970B1 TP53 c.G638A ;p.R213Q missense
970B1 TP53 c.G644T ;p.S215I missense