Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_347316 | 2 | 230632156:230632466:230633331:230633435:230633946:230634041 | 230633331:230633435 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347318 | 2 | 230633946:230634041:230636234:230636348:230638812:230638977 | 230636234:230636348 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347322 | 2 | 230636234:230636348:230638812:230638977:230642030:230642195 | 230638812:230638977 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347327 | 2 | 230638812:230638977:230642030:230642195:230643148:230643181 | 230642030:230642195 | ENSG00000153827.9 | ENST00000459841.1,ENST00000283943.5,ENST00000389045.3,ENST00000418123.1,ENST00000389044.4 |
exon_skip_347331 | 2 | 230643148:230643303:230643591:230643706:230650472:230650571 | 230643591:230643706 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347333 | 2 | 230650472:230650571:230652220:230652377:230653513:230653656 | 230652220:230652377 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347336 | 2 | 230653513:230653656:230654326:230654478:230655839:230655967 | 230654326:230654478 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347338 | 2 | 230655839:230655967:230656581:230656781:230656868:230656942 | 230656581:230656781 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347339 | 2 | 230659894:230660046:230661306:230661498:230662405:230662547 | 230661306:230661498 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347340 | 2 | 230663590:230663765:230663998:230664099:230666967:230667175 | 230663998:230664099 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347341 | 2 | 230668286:230668405:230668714:230668943:230670445:230670518 | 230668714:230668943 | ENSG00000153827.9 | ENST00000487178.1,ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347342 | 2 | 230672423:230672580:230672967:230673085:230675595:230675761 | 230672967:230673085 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000479037.1,ENST00000389044.4 |
exon_skip_347346 | 2 | 230675851:230675920:230678585:230678747:230678948:230679041 | 230678585:230678747 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000479037.1,ENST00000477441.1,ENST00000389044.4 |
exon_skip_347350 | 2 | 230693908:230694004:230695471:230695537:230701563:230701700 | 230695471:230695537 | ENSG00000153827.9 | ENST00000283943.5 |
exon_skip_347351 | 2 | 230693908:230694004:230695471:230695555:230701563:230701700 | 230695471:230695555 | ENSG00000153827.9 | ENST00000389045.3,ENST00000479037.1,ENST00000389044.4 |
exon_skip_347354 | 2 | 230705537:230705643:230723487:230724290:230744697:230744844 | 230723487:230724290 | ENSG00000153827.9 | ENST00000283943.5,ENST00000479037.1 |
exon_skip_347356 | 2 | 230724091:230724290:230725121:230725247:230744697:230744844 | 230725121:230725247 | ENSG00000153827.9 | ENST00000389044.4,ENST00000409677.1,ENST00000543084.1,ENST00000430954.1 |
exon_skip_347357 | 2 | 230725121:230725247:230744697:230744844:230786595:230786619 | 230744697:230744844 | ENSG00000153827.9 | ENST00000389044.4,ENST00000409677.1,ENST00000543084.1 |
exon_skip_347358 | 2 | 230744697:230744844:230765452:230765574:230786595:230786619 | 230765452:230765574 | ENSG00000153827.9 | ENST00000343290.5 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_347316 | 2 | 230632156:230632466:230633331:230633435:230633946:230634041 | 230633331:230633435 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347318 | 2 | 230633946:230634041:230636234:230636348:230638812:230638977 | 230636234:230636348 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347322 | 2 | 230636234:230636348:230638812:230638977:230642030:230642195 | 230638812:230638977 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347327 | 2 | 230638812:230638977:230642030:230642195:230643148:230643181 | 230642030:230642195 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4,ENST00000418123.1,ENST00000459841.1 |
exon_skip_347331 | 2 | 230643148:230643303:230643591:230643706:230650472:230650571 | 230643591:230643706 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347333 | 2 | 230650472:230650571:230652220:230652377:230653513:230653656 | 230652220:230652377 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347336 | 2 | 230653513:230653656:230654326:230654478:230655839:230655967 | 230654326:230654478 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347338 | 2 | 230655839:230655967:230656581:230656781:230656868:230656942 | 230656581:230656781 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347339 | 2 | 230659894:230660046:230661306:230661498:230662405:230662547 | 230661306:230661498 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347340 | 2 | 230663590:230663765:230663998:230664099:230666967:230667175 | 230663998:230664099 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4 |
exon_skip_347341 | 2 | 230668286:230668405:230668714:230668943:230670445:230670518 | 230668714:230668943 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4,ENST00000487178.1 |
exon_skip_347342 | 2 | 230672423:230672580:230672967:230673085:230675595:230675761 | 230672967:230673085 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4,ENST00000479037.1 |
exon_skip_347346 | 2 | 230675851:230675920:230678585:230678747:230678948:230679041 | 230678585:230678747 | ENSG00000153827.9 | ENST00000283943.5,ENST00000389045.3,ENST00000389044.4,ENST00000479037.1,ENST00000477441.1 |
exon_skip_347350 | 2 | 230693908:230694004:230695471:230695537:230701563:230701700 | 230695471:230695537 | ENSG00000153827.9 | ENST00000283943.5 |
exon_skip_347351 | 2 | 230693908:230694004:230695471:230695555:230701563:230701700 | 230695471:230695555 | ENSG00000153827.9 | ENST00000389045.3,ENST00000389044.4,ENST00000479037.1 |
exon_skip_347354 | 2 | 230705537:230705643:230723487:230724290:230744697:230744844 | 230723487:230724290 | ENSG00000153827.9 | ENST00000283943.5,ENST00000479037.1 |
exon_skip_347356 | 2 | 230724091:230724290:230725121:230725247:230744697:230744844 | 230725121:230725247 | ENSG00000153827.9 | ENST00000389044.4,ENST00000543084.1,ENST00000409677.1,ENST00000430954.1 |
exon_skip_347358 | 2 | 230744697:230744844:230765452:230765574:230786595:230786619 | 230765452:230765574 | ENSG00000153827.9 | ENST00000343290.5 |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q14669 | 381 | 403 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 381 | 403 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 381 | 403 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 560 | 614 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 560 | 614 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 560 | 614 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1133 | 1197 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1133 | 1197 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1133 | 1197 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1713 | 1768 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1768 | 1823 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1768 | 1823 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1768 | 1823 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1768 | 1823 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1823 | 1861 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1823 | 1861 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1823 | 1861 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1823 | 1861 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1823 | 1861 | 1840 | 1840 | Natural variant | ID=VAR_080438;Note=In MRD49. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q14669 | 381 | 403 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 381 | 403 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 381 | 403 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 560 | 614 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 560 | 614 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 560 | 614 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1133 | 1197 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1133 | 1197 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1133 | 1197 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1713 | 1768 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1713 | 1768 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1768 | 1823 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1768 | 1823 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1768 | 1823 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1768 | 1823 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1823 | 1861 | 2 | 1992 | Chain | ID=PRO_0000173872;Note=E3 ubiquitin-protein ligase TRIP12 |
Q14669 | 1823 | 1861 | 338 | 1992 | Natural variant | ID=VAR_080432;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1823 | 1861 | 352 | 1992 | Natural variant | ID=VAR_080433;Note=In MRD49%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Q14669 | 1823 | 1861 | 1449 | 1992 | Natural variant | ID=VAR_080435;Note=In MRD49. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28251352;Dbxref=PMID:28251352 |
Q14669 | 1823 | 1861 | 1840 | 1840 | Natural variant | ID=VAR_080438;Note=In MRD49. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27848077;Dbxref=PMID:27848077 |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
SNUC2A_LARGE_INTESTINE | 230652221 | 230652377 | 230652337 | 230652337 | Frame_Shift_Del | A | - | p.Y1552fs |
HEC151_ENDOMETRIUM | 230656582 | 230656781 | 230656733 | 230656733 | Frame_Shift_Del | A | - | p.Y1347fs |
CCK81_LARGE_INTESTINE | 230723488 | 230724290 | 230724116 | 230724116 | Frame_Shift_Del | T | - | p.K91fs |
MDAPCA2B_PROSTATE | 230723488 | 230724290 | 230724211 | 230724211 | Frame_Shift_Del | T | - | p.T60fs |
TGBC11TKB_STOMACH | 230723488 | 230724290 | 230724211 | 230724211 | Frame_Shift_Del | T | - | p.T60fs |
HEC151_ENDOMETRIUM | 230723488 | 230724290 | 230724115 | 230724116 | Frame_Shift_Ins | - | T | p.P92fs |
LOVO_LARGE_INTESTINE | 230723488 | 230724290 | 230724115 | 230724116 | Frame_Shift_Ins | - | T | p.P92fs |
SKUT1_SOFT_TISSUE | 230723488 | 230724290 | 230724115 | 230724116 | Frame_Shift_Ins | - | T | p.P92fs |
A253_SALIVARY_GLAND | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
ACHN_KIDNEY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
AM38_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
BICR56_UPPER_AERODIGESTIVE_TRACT | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
BXPC3_PANCREAS | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
CAL120_BREAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
COLO678_LARGE_INTESTINE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
DV90_LUNG | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
EFM192A_BREAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
GB1_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HEC108_ENDOMETRIUM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HEC151_ENDOMETRIUM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HS274T_BREAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HS739T_FIBROBLAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HS822T_FIBROBLAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HS840T_FIBROBLAST | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HS944T_SKIN | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HT144_SKIN | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HT55_LARGE_INTESTINE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
IGR39_SKIN | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
JHOM1_OVARY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
KMRC1_KIDNEY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
KPNYN_AUTONOMIC_GANGLIA | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
LMSU_STOMACH | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
LN464_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
MDST8_LARGE_INTESTINE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
MPP89_PLEURA | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
NCIH1105_LUNG | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
NCIH1792_LUNG | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
NCIH854_LUNG | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
OAW42_OVARY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
RMGI_OVARY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SKOV3_OVARY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNB75_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU1066_UPPER_AERODIGESTIVE_TRACT | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU1076_UPPER_AERODIGESTIVE_TRACT | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU201_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU308_BILIARY_TRACT | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU349_KIDNEY | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
TCCSUP_URINARY_TRACT | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
TE1_OESOPHAGUS | 230723488 | 230724290 | 230724210 | 230724211 | Frame_Shift_Ins | - | T | p.T60fs |
SNU216_STOMACH | 230636235 | 230636348 | 230636299 | 230636299 | Missense_Mutation | G | A | p.S1840L |
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230638813 | 230638977 | 230638883 | 230638883 | Missense_Mutation | G | A | p.P1800L |
HEC108_ENDOMETRIUM | 230638813 | 230638977 | 230638890 | 230638890 | Missense_Mutation | C | A | p.G1798W |
HEC6_ENDOMETRIUM | 230643592 | 230643706 | 230643647 | 230643647 | Missense_Mutation | C | A | p.Q1643H |
MZ7MEL_SKIN | 230643592 | 230643706 | 230643672 | 230643672 | Missense_Mutation | T | C | p.Y1635C |
FU97_STOMACH | 230652221 | 230652377 | 230652226 | 230652226 | Missense_Mutation | T | G | p.K1589Q |
HCC2157_BREAST | 230652221 | 230652377 | 230652244 | 230652244 | Missense_Mutation | C | A | p.A1583S |
HEC151_ENDOMETRIUM | 230652221 | 230652377 | 230652319 | 230652319 | Missense_Mutation | G | A | p.R1558W |
MFE319_ENDOMETRIUM | 230652221 | 230652377 | 230652367 | 230652367 | Missense_Mutation | A | T | p.F1542I |
OUMS23_LARGE_INTESTINE | 230654327 | 230654478 | 230654358 | 230654358 | Missense_Mutation | G | T | p.A1480D |
HCT15_LARGE_INTESTINE | 230654327 | 230654478 | 230654370 | 230654370 | Missense_Mutation | C | A | p.R1476I |
BICR18_UPPER_AERODIGESTIVE_TRACT | 230654327 | 230654478 | 230654458 | 230654458 | Missense_Mutation | A | C | p.S1447A |
KG1C_CENTRAL_NERVOUS_SYSTEM | 230654327 | 230654478 | 230654466 | 230654466 | Missense_Mutation | G | T | p.P1444Q |
SHP77_LUNG | 230656582 | 230656781 | 230656584 | 230656584 | Missense_Mutation | T | C | p.I1396M |
TE14_OESOPHAGUS | 230656582 | 230656781 | 230656640 | 230656640 | Missense_Mutation | C | T | p.D1378N |
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230656582 | 230656781 | 230656721 | 230656721 | Missense_Mutation | G | A | p.H1351Y |
NO11_CENTRAL_NERVOUS_SYSTEM | 230661307 | 230661498 | 230661319 | 230661319 | Missense_Mutation | A | T | p.F1193L |
MZ7MEL_SKIN | 230661307 | 230661498 | 230661387 | 230661387 | Missense_Mutation | A | T | p.L1171M |
NHAHTDD_CENTRAL_NERVOUS_SYSTEM | 230661307 | 230661498 | 230661416 | 230661416 | Missense_Mutation | C | T | p.S1161N |
NCIH378_LUNG | 230663999 | 230664099 | 230664061 | 230664061 | Missense_Mutation | T | A | p.K1007I |
SNU1040_LARGE_INTESTINE | 230663999 | 230664099 | 230664065 | 230664065 | Missense_Mutation | G | A | p.P1006S |
HCT15_LARGE_INTESTINE | 230668715 | 230668943 | 230668744 | 230668744 | Missense_Mutation | C | A | p.K875N |
HS578T_BREAST | 230668715 | 230668943 | 230668805 | 230668805 | Missense_Mutation | C | A | p.R855I |
ISTSL2_LUNG | 230668715 | 230668943 | 230668896 | 230668896 | Missense_Mutation | T | C | p.K825E |
BICR18_UPPER_AERODIGESTIVE_TRACT | 230668715 | 230668943 | 230668928 | 230668928 | Missense_Mutation | G | A | p.S814L |
S117_SOFT_TISSUE | 230668715 | 230668943 | 230668928 | 230668928 | Missense_Mutation | G | A | p.S814L |
GP2D_LARGE_INTESTINE | 230672968 | 230673085 | 230672971 | 230672971 | Missense_Mutation | A | G | p.I731T |
GP5D_LARGE_INTESTINE | 230672968 | 230673085 | 230672971 | 230672971 | Missense_Mutation | A | G | p.I731T |
JHOM1_OVARY | 230672968 | 230673085 | 230673046 | 230673046 | Missense_Mutation | G | A | p.S706F |
LN18_CENTRAL_NERVOUS_SYSTEM | 230678586 | 230678747 | 230678674 | 230678674 | Missense_Mutation | G | T | p.A585E |
SNU668_STOMACH | 230723488 | 230724290 | 230723680 | 230723680 | Missense_Mutation | C | T | p.A237T |
EFO27_OVARY | 230723488 | 230724290 | 230723680 | 230723680 | Missense_Mutation | C | T | p.A237T |
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230723680 | 230723680 | Missense_Mutation | C | T | p.A237T |
BC3C_URINARY_TRACT | 230723488 | 230724290 | 230723800 | 230723800 | Missense_Mutation | A | T | p.S197T |
TTC1240_SOFT_TISSUE | 230723488 | 230724290 | 230723871 | 230723871 | Missense_Mutation | G | T | p.A173E |
JHUEM7_ENDOMETRIUM | 230723488 | 230724290 | 230723925 | 230723925 | Missense_Mutation | G | T | p.S155Y |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230723955 | 230723955 | Missense_Mutation | C | T | p.R145Q |
639V_URINARY_TRACT | 230723488 | 230724290 | 230723955 | 230723955 | Missense_Mutation | C | T | p.R145Q |
CCK81_LARGE_INTESTINE | 230723488 | 230724290 | 230724004 | 230724004 | Missense_Mutation | A | G | p.S129P |
HMEL_BREAST | 230723488 | 230724290 | 230724063 | 230724063 | Missense_Mutation | C | T | p.S109N |
JHUEM7_ENDOMETRIUM | 230723488 | 230724290 | 230724112 | 230724112 | Missense_Mutation | T | C | p.K93E |
DU145_PROSTATE | 230723488 | 230724290 | 230724124 | 230724124 | Missense_Mutation | C | T | p.A89T |
KNS60_CENTRAL_NERVOUS_SYSTEM | 230723488 | 230724290 | 230724157 | 230724157 | Missense_Mutation | G | A | p.P78S |
ESS1_ENDOMETRIUM | 230723488 | 230724290 | 230724214 | 230724214 | Missense_Mutation | T | G | p.K59Q |
SISO_CERVIX | 230723488 | 230724290 | 230724235 | 230724235 | Missense_Mutation | C | T | p.A52T |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 230723488 | 230724290 | 230724235 | 230724235 | Missense_Mutation | C | T | p.A52T |
HEC108_ENDOMETRIUM | 230723488 | 230724290 | 230724241 | 230724241 | Missense_Mutation | C | T | p.D50N |
CCK81_LARGE_INTESTINE | 230744698 | 230744844 | 230744714 | 230744714 | Missense_Mutation | C | T | p.D28N |
NCIH2081_LUNG | 230744698 | 230744844 | 230744723 | 230744723 | Missense_Mutation | G | A | p.P25S |
SW1271_LUNG | 230744698 | 230744844 | 230744729 | 230744729 | Missense_Mutation | C | A | p.A23S |
YD38_UPPER_AERODIGESTIVE_TRACT | 230723488 | 230724290 | 230723830 | 230723830 | Nonsense_Mutation | T | A | p.K187* |
MFE319_ENDOMETRIUM | 230643592 | 230643706 | 230643592 | 230643592 | Splice_Site | C | A | p.G1662W |