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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ANK2 |
 Gene summary |
| Gene information | Gene symbol | ANK2 | Gene ID | 287 |
| Gene name | ankyrin 2 | |
| Synonyms | ANK-2|LQT4|brank-2 | |
| Cytomap | 4q25-q26 | |
| Type of gene | protein-coding | |
| Description | ankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin | |
| Modification date | 20180523 | |
| UniProtAcc | Q01484 | |
| Context | PubMed: ANK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for ANK2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for ANK2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ANK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_425855 | 4 | 113970884:113970968:114072235:114072280:114095571:114095673 | 114072235:114072280 | ENSG00000145362.12 | ENST00000504454.1 |
| exon_skip_425858 | 4 | 114158142:114158328:114158754:114158778:114161640:114161739 | 114158754:114158778 | ENSG00000145362.12 | ENST00000394537.3,ENST00000503271.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000503423.1,ENST00000264366.6 |
| exon_skip_425859 | 4 | 114176890:114177088:114179205:114179304:114179468:114179567 | 114179205:114179304 | ENSG00000145362.12 | ENST00000394537.3,ENST00000503271.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000503423.1,ENST00000264366.6 |
| exon_skip_425861 | 4 | 114198992:114199091:114199615:114199714:114203830:114204028 | 114199615:114199714 | ENSG00000145362.12 | ENST00000394537.3,ENST00000503271.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000264366.6 |
| exon_skip_425862 | 4 | 114209543:114209642:114213571:114213670:114214595:114214694 | 114213571:114213670 | ENSG00000145362.12 | ENST00000394537.3,ENST00000503271.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000503423.1,ENST00000264366.6 |
| exon_skip_425865 | 4 | 114239740:114239776:114244914:114244950:114251401:114251519 | 114244914:114244950 | ENSG00000145362.12 | ENST00000506722.1 |
| exon_skip_425866 | 4 | 114251401:114251626:114253127:114253226:114254209:114254364 | 114253127:114253226 | ENSG00000145362.12 | ENST00000394537.3,ENST00000503271.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1 |
| exon_skip_425867 | 4 | 114262867:114263072:114264172:114264298:114267055:114267178 | 114264172:114264298 | ENSG00000145362.12 | ENST00000394537.3,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000510275.2,ENST00000503423.1,ENST00000509550.1,ENST00000264366.6,ENST00000514960.1 |
| exon_skip_425868 | 4 | 114267055:114267178:114269431:114269464:114271383:114271404 | 114269431:114269464 | ENSG00000145362.12 | ENST00000394537.3,ENST00000504415.1,ENST00000504454.1,ENST00000357077.4,ENST00000506722.1,ENST00000510275.2,ENST00000503423.1,ENST00000509550.1,ENST00000264366.6 |
| exon_skip_425871 | 4 | 114267055:114267178:114271383:114271405:114281978:114282053 | 114271383:114271405 | ENSG00000145362.12 | ENST00000514960.1 |
| exon_skip_425874 | 4 | 114269431:114269464:114271383:114271405:114281978:114282053 | 114271383:114271405 | ENSG00000145362.12 | ENST00000394537.3,ENST00000504415.1,ENST00000506722.1,ENST00000510275.2,ENST00000509550.1,ENST00000508007.1 |
| exon_skip_425876 | 4 | 114271383:114271405:114274200:114280455:114281978:114282053 | 114274200:114280455 | ENSG00000145362.12 | ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425877 | 4 | 114290669:114290961:114293688:114293781:114294245:114294320 | 114293688:114293781 | ENSG00000145362.12 | ENST00000510275.2,ENST00000514960.1 |
| exon_skip_425880 | 4 | 114294245:114294329:114294440:114294605:114302612:114302627 | 114294440:114294605 | ENSG00000145362.12 | ENST00000394537.3,ENST00000357077.4,ENST00000506722.1,ENST00000510275.2,ENST00000509550.1,ENST00000264366.6 |
| exon_skip_425883 | 4 | 114294514:114294605:114295919:114296102:114299245:114299337 | 114295919:114296102 | ENSG00000145362.12 | ENST00000506344.1 |
| exon_skip_425884 | 4 | 114294514:114294605:114295919:114296102:114302612:114302627 | 114295919:114296102 | ENSG00000145362.12 | ENST00000505342.1,ENST00000514960.1 |
| exon_skip_425885 | 4 | 114294514:114294605:114299245:114299337:114302612:114302627 | 114299245:114299337 | ENSG00000145362.12 | ENST00000514167.1 |
| exon_skip_425886 | 4 | 114295919:114296102:114299245:114299337:114302612:114302627 | 114299245:114299337 | ENSG00000145362.12 | ENST00000506344.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_425855 | 4 | 113970884:113970968:114072235:114072280:114095571:114095673 | 114072235:114072280 | ENSG00000145362.12 | ENST00000504454.1 |
| exon_skip_425858 | 4 | 114158142:114158328:114158754:114158778:114161640:114161739 | 114158754:114158778 | ENSG00000145362.12 | ENST00000503271.1,ENST00000503423.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425859 | 4 | 114176890:114177088:114179205:114179304:114179468:114179567 | 114179205:114179304 | ENSG00000145362.12 | ENST00000503271.1,ENST00000503423.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425861 | 4 | 114198992:114199091:114199615:114199714:114203830:114204028 | 114199615:114199714 | ENSG00000145362.12 | ENST00000503271.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425862 | 4 | 114209543:114209642:114213571:114213670:114214595:114214694 | 114213571:114213670 | ENSG00000145362.12 | ENST00000503271.1,ENST00000503423.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425865 | 4 | 114239740:114239776:114244914:114244950:114251401:114251519 | 114244914:114244950 | ENSG00000145362.12 | ENST00000506722.1 |
| exon_skip_425866 | 4 | 114251401:114251626:114253127:114253226:114254209:114254364 | 114253127:114253226 | ENSG00000145362.12 | ENST00000503271.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4 |
| exon_skip_425867 | 4 | 114262867:114263072:114264172:114264298:114267055:114267178 | 114264172:114264298 | ENSG00000145362.12 | ENST00000503423.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6,ENST00000509550.1,ENST00000514960.1,ENST00000510275.2 |
| exon_skip_425868 | 4 | 114267055:114267178:114269431:114269464:114271383:114271404 | 114269431:114269464 | ENSG00000145362.12 | ENST00000503423.1,ENST00000506722.1,ENST00000504454.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6,ENST00000509550.1,ENST00000504415.1,ENST00000510275.2 |
| exon_skip_425871 | 4 | 114267055:114267178:114271383:114271405:114281978:114282053 | 114271383:114271405 | ENSG00000145362.12 | ENST00000514960.1 |
| exon_skip_425874 | 4 | 114269431:114269464:114271383:114271405:114281978:114282053 | 114271383:114271405 | ENSG00000145362.12 | ENST00000506722.1,ENST00000394537.3,ENST00000509550.1,ENST00000504415.1,ENST00000510275.2,ENST00000508007.1 |
| exon_skip_425876 | 4 | 114271383:114271405:114274200:114280455:114281978:114282053 | 114274200:114280455 | ENSG00000145362.12 | ENST00000357077.4,ENST00000264366.6 |
| exon_skip_425877 | 4 | 114290669:114290961:114293688:114293781:114294245:114294320 | 114293688:114293781 | ENSG00000145362.12 | ENST00000514960.1,ENST00000510275.2 |
| exon_skip_425880 | 4 | 114294245:114294329:114294440:114294605:114302612:114302627 | 114294440:114294605 | ENSG00000145362.12 | ENST00000506722.1,ENST00000394537.3,ENST00000357077.4,ENST00000264366.6,ENST00000509550.1,ENST00000510275.2 |
| exon_skip_425883 | 4 | 114294514:114294605:114295919:114296102:114299245:114299337 | 114295919:114296102 | ENSG00000145362.12 | ENST00000506344.1 |
| exon_skip_425884 | 4 | 114294514:114294605:114295919:114296102:114302612:114302627 | 114295919:114296102 | ENSG00000145362.12 | ENST00000514960.1,ENST00000505342.1 |
| exon_skip_425885 | 4 | 114294514:114294605:114299245:114299337:114302612:114302627 | 114299245:114299337 | ENSG00000145362.12 | ENST00000514167.1 |
| exon_skip_425886 | 4 | 114295919:114296102:114299245:114299337:114302612:114302627 | 114299245:114299337 | ENSG00000145362.12 | ENST00000506344.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ANK2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for ANK2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for ANK2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
ANK2_ESCA_exon_skip_425876_psi_boxplot.png |
ANK2_KIRC_exon_skip_425876_psi_boxplot.png |
ANK2_KIRP_exon_skip_425876_psi_boxplot.png |
ANK2_LGG_exon_skip_425876_psi_boxplot.png |
ANK2_LUAD_exon_skip_425876_psi_boxplot.png |
ANK2_SKCM_exon_skip_425876_psi_boxplot.png |
ANK2_STAD_exon_skip_425876_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_425859 | 114179206 | 114179304 | 114179211 | 114179211 | Frame_Shift_Del | T | - | p.G398fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_425862 | 114213572 | 114213670 | 114213644 | 114213644 | Frame_Shift_Del | G | - | p.G784fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_425866 | 114253128 | 114253226 | 114253153 | 114253153 | Frame_Shift_Del | C | - | p.P1052fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_425876 | 114274201 | 114280455 | 114274570 | 114274570 | Frame_Shift_Del | A | - | p.E1599fs |
| COAD | TCGA-A6-5661-01 | exon_skip_425876 | 114274201 | 114280455 | 114274588 | 114274588 | Frame_Shift_Del | A | - | p.Q1605fs |
| STAD | TCGA-HU-8602-01 | exon_skip_425876 | 114274201 | 114280455 | 114274959 | 114274959 | Frame_Shift_Del | A | - | p.L1728fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_425876 | 114274201 | 114280455 | 114274959 | 114274959 | Frame_Shift_Del | A | - | p.L1728fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_425876 | 114274201 | 114280455 | 114275575 | 114275575 | Frame_Shift_Del | A | - | p.E1934fs |
| STAD | TCGA-BR-4368-01 | exon_skip_425876 | 114274201 | 114280455 | 114275575 | 114275575 | Frame_Shift_Del | A | - | p.E1934fs |
| LUAD | TCGA-55-8506-01 | exon_skip_425876 | 114274201 | 114280455 | 114276131 | 114276131 | Frame_Shift_Del | G | - | p.Q2119fs |
| LGG | TCGA-HT-7855-01 | exon_skip_425876 | 114274201 | 114280455 | 114277079 | 114277080 | Frame_Shift_Del | CT | - | p.2435_2435del |
| LGG | TCGA-HT-7855-01 | exon_skip_425876 | 114274201 | 114280455 | 114277079 | 114277080 | Frame_Shift_Del | CT | - | p.DS2435fs |
| KIRC | TCGA-BP-5009-01 | exon_skip_425876 | 114274201 | 114280455 | 114277376 | 114277376 | Frame_Shift_Del | C | - | p.S2534fs |
| ESCA | TCGA-V5-AASW-01 | exon_skip_425876 | 114274201 | 114280455 | 114277685 | 114277685 | Frame_Shift_Del | A | - | p.K2638fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_425876 | 114274201 | 114280455 | 114277701 | 114277701 | Frame_Shift_Del | G | - | p.G2643fs |
| READ | TCGA-AG-A00Y-01 | exon_skip_425876 | 114274201 | 114280455 | 114278110 | 114278111 | Frame_Shift_Del | CC | - | p.2779_2779del |
| STAD | TCGA-CG-4465-01 | exon_skip_425876 | 114274201 | 114280455 | 114278230 | 114278230 | Frame_Shift_Del | A | - | p.E2819fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_425876 | 114274201 | 114280455 | 114278579 | 114278579 | Frame_Shift_Del | T | - | p.S2935fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_425876 | 114274201 | 114280455 | 114278579 | 114278579 | Frame_Shift_Del | T | - | p.S2935fs |
| LUAD | TCGA-05-4389-01 | exon_skip_425876 | 114274201 | 114280455 | 114278661 | 114278661 | Frame_Shift_Del | A | - | p.T2963fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_425876 | 114274201 | 114280455 | 114279545 | 114279545 | Frame_Shift_Del | T | - | p.D3257fs |
| KIRP | TCGA-UZ-A9PS-01 | exon_skip_425876 | 114274201 | 114280455 | 114279656 | 114279656 | Frame_Shift_Del | T | - | p.N3294fs |
| COAD | TCGA-A6-5661-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| COAD | TCGA-F4-6856-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.G3456fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| STAD | TCGA-BR-6852-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_425876 | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| STAD | TCGA-CG-5728-01 | exon_skip_425880 | 114294441 | 114294605 | 114294543 | 114294543 | Frame_Shift_Del | G | - | p.E3932fs |
| COAD | TCGA-CM-4746-01 | exon_skip_425867 | 114264173 | 114264298 | 114264255 | 114264256 | Frame_Shift_Ins | - | T | p.S1402fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_425867 | 114264173 | 114264298 | 114264255 | 114264256 | Frame_Shift_Ins | - | T | p.S1402fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_425867 | 114264173 | 114264298 | 114264255 | 114264256 | Frame_Shift_Ins | - | T | p.S1402fs |
| CHOL | TCGA-ZD-A8I3-01 | exon_skip_425871 exon_skip_425874 | 114271384 | 114271405 | 114271399 | 114271400 | Frame_Shift_Ins | - | A | p.E1474fs |
| CHOL | TCGA-ZD-A8I3-01 | exon_skip_425871 exon_skip_425874 | 114271384 | 114271405 | 114271399 | 114271400 | Frame_Shift_Ins | - | A | p.K1474fs |
| HNSC | TCGA-CN-6023-01 | exon_skip_425876 | 114274201 | 114280455 | 114275546 | 114275547 | Frame_Shift_Ins | - | C | p.KP1924fs |
| READ | TCGA-EI-6507-01 | exon_skip_425876 | 114274201 | 114280455 | 114276086 | 114276087 | Frame_Shift_Ins | - | CA | p.S2104fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_425876 | 114274201 | 114280455 | 114277508 | 114277509 | Frame_Shift_Ins | - | A | p.E2578fs |
| HNSC | TCGA-CN-6021-01 | exon_skip_425876 | 114274201 | 114280455 | 114278600 | 114278601 | Frame_Shift_Ins | - | A | p.N2943fs |
| HNSC | TCGA-CN-6021-01 | exon_skip_425876 | 114274201 | 114280455 | 114278600 | 114278601 | Frame_Shift_Ins | - | A | p.S2942fs |
| COAD | TCGA-A6-2676-01 | exon_skip_425876 | 114274201 | 114280455 | 114279033 | 114279034 | Frame_Shift_Ins | - | C | p.T3087fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| KIRC | TCGA-A3-3382-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| KIRC | TCGA-AK-3427-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| KIRC | TCGA-AK-3440-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| KIRC | TCGA-AK-3443-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| KIRC | TCGA-AK-3465-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| LUAD | TCGA-35-3615-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| LUAD | TCGA-44-2655-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| LUAD | TCGA-44-2662-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| LUAD | TCGA-55-1594-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| LUAD | TCGA-67-3770-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.G3454fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.R3454fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.R3454fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_425876 | 114274201 | 114280455 | 114280134 | 114280135 | Frame_Shift_Ins | - | G | p.R3454fs |
| KIRC | TCGA-CJ-5689-01 | exon_skip_425867 | 114264173 | 114264298 | 114264182 | 114264182 | Nonsense_Mutation | G | T | p.G1378X |
| HNSC | TCGA-CN-4731-01 | exon_skip_425867 | 114264173 | 114264298 | 114264272 | 114264272 | Nonsense_Mutation | G | T | p.E1408* |
| LUAD | TCGA-17-Z060-01 | exon_skip_425876 | 114274201 | 114280455 | 114274542 | 114274542 | Nonsense_Mutation | G | T | p.E1590* |
| LUAD | TCGA-55-7281-01 | exon_skip_425876 | 114274201 | 114280455 | 114274602 | 114274602 | Nonsense_Mutation | G | T | p.E1610* |
| COAD | TCGA-A6-5661-01 | exon_skip_425876 | 114274201 | 114280455 | 114274616 | 114274616 | Nonsense_Mutation | T | A | p.Y1614X |
| STAD | TCGA-BR-8363-01 | exon_skip_425876 | 114274201 | 114280455 | 114274836 | 114274836 | Nonsense_Mutation | C | T | p.Q1688* |
| STAD | TCGA-BR-8363-01 | exon_skip_425876 | 114274201 | 114280455 | 114274836 | 114274836 | Nonsense_Mutation | C | T | p.Q1688X |
| ESCA | TCGA-IG-A3YA-01 | exon_skip_425876 | 114274201 | 114280455 | 114275106 | 114275106 | Nonsense_Mutation | G | T | p.E1778X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_425876 | 114274201 | 114280455 | 114275124 | 114275124 | Nonsense_Mutation | C | T | p.R1784* |
| BLCA | TCGA-FD-A3B6-01 | exon_skip_425876 | 114274201 | 114280455 | 114275328 | 114275328 | Nonsense_Mutation | G | T | p.E1852* |
| LUAD | TCGA-95-7039-01 | exon_skip_425876 | 114274201 | 114280455 | 114275488 | 114275488 | Nonsense_Mutation | C | A | p.S1905* |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_425876 | 114274201 | 114280455 | 114275901 | 114275901 | Nonsense_Mutation | C | T | p.Q2043* |
| SKCM | TCGA-D3-A5GO-06 | exon_skip_425876 | 114274201 | 114280455 | 114275901 | 114275901 | Nonsense_Mutation | C | T | p.Q2043X |
| KICH | TCGA-KL-8330-01 | exon_skip_425876 | 114274201 | 114280455 | 114275928 | 114275928 | Nonsense_Mutation | C | T | p.R2052X |
| LUAD | TCGA-17-Z062-01 | exon_skip_425876 | 114274201 | 114280455 | 114276798 | 114276798 | Nonsense_Mutation | G | T | p.G2342* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_425876 | 114274201 | 114280455 | 114277614 | 114277614 | Nonsense_Mutation | G | T | p.E2614* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_425876 | 114274201 | 114280455 | 114277614 | 114277614 | Nonsense_Mutation | G | T | p.E2614* |
| STAD | TCGA-BR-4361-01 | exon_skip_425876 | 114274201 | 114280455 | 114277794 | 114277794 | Nonsense_Mutation | A | T | p.K2674* |
| STAD | TCGA-BR-4361-01 | exon_skip_425876 | 114274201 | 114280455 | 114277794 | 114277794 | Nonsense_Mutation | A | T | p.K2674X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_425876 | 114274201 | 114280455 | 114277836 | 114277836 | Nonsense_Mutation | C | T | p.R2688* |
| KIRC | TCGA-BP-4995-01 | exon_skip_425876 | 114274201 | 114280455 | 114277953 | 114277953 | Nonsense_Mutation | C | T | p.Q2727* |
| KIRC | TCGA-BP-4995-01 | exon_skip_425876 | 114274201 | 114280455 | 114277953 | 114277953 | Nonsense_Mutation | C | T | p.Q2727X |
| ESCA | TCGA-L5-A88V-01 | exon_skip_425876 | 114274201 | 114280455 | 114278181 | 114278181 | Nonsense_Mutation | G | T | p.E2803* |
| ESCA | TCGA-L5-A88V-01 | exon_skip_425876 | 114274201 | 114280455 | 114278181 | 114278181 | Nonsense_Mutation | G | T | p.E2803X |
| COAD | TCGA-D5-5537-01 | exon_skip_425876 | 114274201 | 114280455 | 114278343 | 114278343 | Nonsense_Mutation | G | T | p.E2857X |
| PRAD | TCGA-EJ-A7NF-01 | exon_skip_425876 | 114274201 | 114280455 | 114278436 | 114278436 | Nonsense_Mutation | A | T | p.K2888* |
| UCEC | TCGA-AP-A056-01 | exon_skip_425876 | 114274201 | 114280455 | 114278727 | 114278727 | Nonsense_Mutation | G | T | p.E2985* |
| LUAD | TCGA-05-4382-01 | exon_skip_425876 | 114274201 | 114280455 | 114279550 | 114279551 | Nonsense_Mutation | CC | AA | p.S3259* |
| LUAD | TCGA-44-5644-01 | exon_skip_425876 | 114274201 | 114280455 | 114279970 | 114279970 | Nonsense_Mutation | C | A | p.S3399* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_425876 | 114274201 | 114280455 | 114279996 | 114279996 | Nonsense_Mutation | C | T | p.R3408* |
| BLCA | TCGA-GC-A3RD-01 | exon_skip_425876 | 114274201 | 114280455 | 114280167 | 114280167 | Nonsense_Mutation | G | T | p.E3465* |
| SKCM | TCGA-XV-AAZW-01 | exon_skip_425876 | 114274201 | 114280455 | 114280254 | 114280254 | Nonsense_Mutation | C | T | p.Q3494* |
| LUAD | TCGA-64-1678-01 | exon_skip_425858 | 114158755 | 114158778 | 114158753 | 114158754 | Splice_Site | AG | TA | p.M224_splice |
| LUAD | TCGA-99-7458-01 | exon_skip_425858 | 114158755 | 114158778 | 114158754 | 114158754 | Splice_Site | G | T | p.M224_splice |
| ESCA | TCGA-2H-A9GO-01 | exon_skip_425866 | 114253128 | 114253226 | 114253127 | 114253127 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IG-A3YA-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114275106 | |
| Mutation end: 114275106 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E1778X | |
exon_skip_425876_ESCA_TCGA-IG-A3YA-01.png | |
 | Sample: TCGA-BP-4995-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277953 | |
| Mutation end: 114277953 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2727X | |
| Sample: TCGA-BP-4995-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277953 | |
| Mutation end: 114277953 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2727* | |
exon_skip_425876_KIRC_TCGA-BP-4995-01.png | |
 | Sample: TCGA-05-4382-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114279550 | |
| Mutation end: 114279551 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: CC | |
| Mutation seq: AA | |
| AAchange: p.S3259* | |
exon_skip_129994_LUAD_TCGA-05-4382-01.png | |
exon_skip_129996_LUAD_TCGA-05-4382-01.png | |
exon_skip_146150_LUAD_TCGA-05-4382-01.png | |
exon_skip_19523_LUAD_TCGA-05-4382-01.png | |
exon_skip_327136_LUAD_TCGA-05-4382-01.png | |
exon_skip_331845_LUAD_TCGA-05-4382-01.png | |
exon_skip_347552_LUAD_TCGA-05-4382-01.png | |
exon_skip_347557_LUAD_TCGA-05-4382-01.png | |
exon_skip_359496_LUAD_TCGA-05-4382-01.png | |
exon_skip_367842_LUAD_TCGA-05-4382-01.png | |
exon_skip_367844_LUAD_TCGA-05-4382-01.png | |
exon_skip_425876_LUAD_TCGA-05-4382-01.png | |
exon_skip_434000_LUAD_TCGA-05-4382-01.png | |
exon_skip_448593_LUAD_TCGA-05-4382-01.png | |
exon_skip_91823_LUAD_TCGA-05-4382-01.png | |
 | Sample: TCGA-D3-A5GO-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114275901 | |
| Mutation end: 114275901 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2043X | |
| Sample: TCGA-D3-A5GO-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114275901 | |
| Mutation end: 114275901 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q2043* | |
exon_skip_425876_SKCM_TCGA-D3-A5GO-06.png | |
 | Sample: TCGA-XV-AAZW-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280254 | |
| Mutation end: 114280254 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q3494* | |
exon_skip_425876_SKCM_TCGA-XV-AAZW-01.png | |
 | Sample: TCGA-BR-4361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277794 | |
| Mutation end: 114277794 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.K2674X | |
| Sample: TCGA-BR-4361-01 |
| Cancer type: STAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277794 | |
| Mutation end: 114277794 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.K2674* | |
exon_skip_110606_STAD_TCGA-BR-4361-01.png | |
exon_skip_293444_STAD_TCGA-BR-4361-01.png | |
exon_skip_30776_STAD_TCGA-BR-4361-01.png | |
exon_skip_30782_STAD_TCGA-BR-4361-01.png | |
exon_skip_30792_STAD_TCGA-BR-4361-01.png | |
exon_skip_309972_STAD_TCGA-BR-4361-01.png | |
exon_skip_326683_STAD_TCGA-BR-4361-01.png | |
exon_skip_328488_STAD_TCGA-BR-4361-01.png | |
exon_skip_365627_STAD_TCGA-BR-4361-01.png | |
exon_skip_425876_STAD_TCGA-BR-4361-01.png | |
exon_skip_43854_STAD_TCGA-BR-4361-01.png | |
exon_skip_439047_STAD_TCGA-BR-4361-01.png | |
exon_skip_439048_STAD_TCGA-BR-4361-01.png | |
exon_skip_442657_STAD_TCGA-BR-4361-01.png | |
exon_skip_447822_STAD_TCGA-BR-4361-01.png | |
exon_skip_489149_STAD_TCGA-BR-4361-01.png | |
exon_skip_59757_STAD_TCGA-BR-4361-01.png | |
exon_skip_80320_STAD_TCGA-BR-4361-01.png | |
 | Sample: TCGA-AP-A0LM-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114279996 | |
| Mutation end: 114279996 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R3408* | |
exon_skip_149408_UCEC_TCGA-AP-A0LM-01.png | |
exon_skip_425876_UCEC_TCGA-AP-A0LM-01.png | |
exon_skip_92497_UCEC_TCGA-AP-A0LM-01.png | |
 | Sample: TCGA-BP-5009-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277376 | |
| Mutation end: 114277376 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S2534fs | |
exon_skip_385593_KIRC_TCGA-BP-5009-01.png | |
exon_skip_425876_KIRC_TCGA-BP-5009-01.png | |
exon_skip_464960_KIRC_TCGA-BP-5009-01.png | |
 | Sample: TCGA-A3-3382-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280134 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G3454fs | |
exon_skip_10881_KIRC_TCGA-A3-3382-01.png | |
exon_skip_10918_KIRC_TCGA-A3-3382-01.png | |
exon_skip_314822_KIRC_TCGA-A3-3382-01.png | |
exon_skip_348822_KIRC_TCGA-A3-3382-01.png | |
exon_skip_420494_KIRC_TCGA-A3-3382-01.png | |
exon_skip_425876_KIRC_TCGA-A3-3382-01.png | |
 | Sample: TCGA-AK-3443-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280134 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G3454fs | |
exon_skip_425876_KIRC_TCGA-AK-3443-01.png | |
exon_skip_93891_KIRC_TCGA-AK-3443-01.png | |
exon_skip_93913_KIRC_TCGA-AK-3443-01.png | |
 | Sample: TCGA-AK-3465-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280134 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G3454fs | |
exon_skip_347690_KIRC_TCGA-AK-3465-01.png | |
exon_skip_425876_KIRC_TCGA-AK-3465-01.png | |
exon_skip_503611_KIRC_TCGA-AK-3465-01.png | |
exon_skip_93891_KIRC_TCGA-AK-3465-01.png | |
 | Sample: TCGA-UZ-A9PS-01 |
| Cancer type: KIRP | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114279656 | |
| Mutation end: 114279656 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.N3294fs | |
exon_skip_425876_KIRP_TCGA-UZ-A9PS-01.png | |
exon_skip_438605_KIRP_TCGA-UZ-A9PS-01.png | |
exon_skip_439615_KIRP_TCGA-UZ-A9PS-01.png | |
 | Sample: TCGA-HT-7855-01 |
| Cancer type: LGG | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277079 | |
| Mutation end: 114277080 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CT | |
| Mutation seq: - | |
| AAchange: p.2435_2435del | |
| Sample: TCGA-HT-7855-01 |
| Cancer type: LGG | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114277079 | |
| Mutation end: 114277080 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CT | |
| Mutation seq: - | |
| AAchange: p.DS2435fs | |
exon_skip_425876_LGG_TCGA-HT-7855-01.png | |
 | Sample: TCGA-05-4389-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114278661 | |
| Mutation end: 114278661 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.T2963fs | |
exon_skip_127162_LUAD_TCGA-05-4389-01.png | |
exon_skip_425876_LUAD_TCGA-05-4389-01.png | |
exon_skip_52425_LUAD_TCGA-05-4389-01.png | |
exon_skip_52428_LUAD_TCGA-05-4389-01.png | |
 | Sample: TCGA-44-2662-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280134 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G3454fs | |
exon_skip_355953_LUAD_TCGA-44-2662-01.png | |
exon_skip_425876_LUAD_TCGA-44-2662-01.png | |
exon_skip_93891_LUAD_TCGA-44-2662-01.png | |
 | Sample: TCGA-BR-4368-01 |
| Cancer type: STAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114275575 | |
| Mutation end: 114275575 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.E1934fs | |
exon_skip_113437_STAD_TCGA-BR-4368-01.png | |
exon_skip_121036_STAD_TCGA-BR-4368-01.png | |
exon_skip_126510_STAD_TCGA-BR-4368-01.png | |
exon_skip_309996_STAD_TCGA-BR-4368-01.png | |
exon_skip_384879_STAD_TCGA-BR-4368-01.png | |
exon_skip_425876_STAD_TCGA-BR-4368-01.png | |
exon_skip_491897_STAD_TCGA-BR-4368-01.png | |
 | Sample: TCGA-D7-A6EY-01 |
| Cancer type: STAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280134 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.G3454fs | |
exon_skip_100237_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_21523_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_37321_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_377023_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_425876_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_469411_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_489149_STAD_TCGA-D7-A6EY-01.png | |
exon_skip_93963_STAD_TCGA-D7-A6EY-01.png | |
 | Sample: TCGA-BR-6852-01 |
| Cancer type: STAD | |
| ESID: exon_skip_425876 | |
| Skipped exon start: 114274201 | |
| Skipped exon end: 114280455 | |
| Mutation start: 114280135 | |
| Mutation end: 114280135 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.R3454fs | |
exon_skip_347530_STAD_TCGA-BR-6852-01.png | |
exon_skip_374468_STAD_TCGA-BR-6852-01.png | |
exon_skip_374469_STAD_TCGA-BR-6852-01.png | |
exon_skip_383994_STAD_TCGA-BR-6852-01.png | |
exon_skip_425876_STAD_TCGA-BR-6852-01.png | |
exon_skip_468121_STAD_TCGA-BR-6852-01.png | |
exon_skip_500520_STAD_TCGA-BR-6852-01.png | |
exon_skip_69752_STAD_TCGA-BR-6852-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNUC5_LARGE_INTESTINE | 114179206 | 114179304 | 114179239 | 114179239 | Frame_Shift_Del | A | - | p.K408fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114213572 | 114213670 | 114213607 | 114213607 | Frame_Shift_Del | G | - | p.Q771fs |
| AN3CA_ENDOMETRIUM | 114264173 | 114264298 | 114264256 | 114264256 | Frame_Shift_Del | T | - | p.S1402fs |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114274596 | 114274596 | Frame_Shift_Del | C | - | p.P1608fs |
| LS411N_LARGE_INTESTINE | 114274201 | 114280455 | 114274959 | 114274959 | Frame_Shift_Del | A | - | p.K1730fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114274959 | 114274959 | Frame_Shift_Del | A | - | p.K1730fs |
| NCIH748_LUNG | 114274201 | 114280455 | 114275166 | 114275166 | Frame_Shift_Del | C | - | p.P1798fs |
| AN3CA_ENDOMETRIUM | 114274201 | 114280455 | 114277794 | 114277794 | Frame_Shift_Del | A | - | p.K2675fs |
| LOVO_LARGE_INTESTINE | 114274201 | 114280455 | 114277794 | 114277794 | Frame_Shift_Del | A | - | p.K2675fs |
| 22RV1_PROSTATE | 114274201 | 114280455 | 114278230 | 114278230 | Frame_Shift_Del | A | - | p.E2819fs |
| SKMEL2_SKIN | 114274201 | 114280455 | 114279199 | 114279200 | Frame_Shift_Del | CT | - | p.T3142fs |
| DV90_LUNG | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| SW48_LARGE_INTESTINE | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114280135 | 114280135 | Frame_Shift_Del | G | - | p.R3454fs |
| WM2664_SKIN | 114274201 | 114280455 | 114274946 | 114274947 | Frame_Shift_Ins | - | A | p.K1725fs |
| NCIH250_LUNG | 114274201 | 114280455 | 114278838 | 114278840 | In_Frame_Del | ACA | - | p.T3024del |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114279608 | 114279610 | In_Frame_Del | AGA | - | p.E3280del |
| NCIH1339_LUNG | 114199616 | 114199714 | 114199629 | 114199629 | Missense_Mutation | C | A | p.P599Q |
| PEO1_OVARY | 114199616 | 114199714 | 114199684 | 114199684 | Missense_Mutation | G | T | p.E617D |
| NCIH2444_LUNG | 114213572 | 114213670 | 114213574 | 114213574 | Missense_Mutation | C | A | p.N760K |
| YD8_UPPER_AERODIGESTIVE_TRACT | 114213572 | 114213670 | 114213623 | 114213623 | Missense_Mutation | A | G | p.I777V |
| SNU175_LARGE_INTESTINE | 114213572 | 114213670 | 114213635 | 114213635 | Missense_Mutation | C | T | p.L781F |
| NB17_AUTONOMIC_GANGLIA | 114253128 | 114253226 | 114253178 | 114253178 | Missense_Mutation | T | C | p.L1059S |
| SNUC2A_LARGE_INTESTINE | 114253128 | 114253226 | 114253187 | 114253187 | Missense_Mutation | G | A | p.R1062H |
| SNUC2B_LARGE_INTESTINE | 114253128 | 114253226 | 114253187 | 114253187 | Missense_Mutation | G | A | p.R1062H |
| CORL47_LUNG | 114253128 | 114253226 | 114253217 | 114253217 | Missense_Mutation | A | C | p.K1072T |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114264173 | 114264298 | 114264187 | 114264187 | Missense_Mutation | A | C | p.K1379N |
| NCIH2347_LUNG | 114264173 | 114264298 | 114264209 | 114264209 | Missense_Mutation | G | T | p.G1387C |
| OV90_OVARY | 114264173 | 114264298 | 114264281 | 114264281 | Missense_Mutation | C | T | p.L1411F |
| NCIH2110_LUNG | 114274201 | 114280455 | 114274208 | 114274208 | Missense_Mutation | G | T | p.E1478D |
| C33A_CERVIX | 114274201 | 114280455 | 114274242 | 114274242 | Missense_Mutation | C | A | p.H1490N |
| KYSE220_OESOPHAGUS | 114274201 | 114280455 | 114274344 | 114274344 | Missense_Mutation | G | A | p.D1524N |
| HCC2998_LARGE_INTESTINE | 114274201 | 114280455 | 114274548 | 114274548 | Missense_Mutation | T | C | p.W1592R |
| KMBC2_URINARY_TRACT | 114274201 | 114280455 | 114274551 | 114274551 | Missense_Mutation | G | T | p.V1593F |
| OCUM1_STOMACH | 114274201 | 114280455 | 114274574 | 114274574 | Missense_Mutation | A | G | p.I1600M |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114274600 | 114274600 | Missense_Mutation | T | C | p.L1609S |
| DU145_PROSTATE | 114274201 | 114280455 | 114274624 | 114274624 | Missense_Mutation | T | C | p.V1617A |
| NCIH1304_LUNG | 114274201 | 114280455 | 114274963 | 114274963 | Missense_Mutation | A | C | p.K1730T |
| SW684_SOFT_TISSUE | 114274201 | 114280455 | 114275058 | 114275059 | Missense_Mutation | CC | TT | p.P1762F |
| MM370_SKIN | 114274201 | 114280455 | 114275059 | 114275059 | Missense_Mutation | C | T | p.P1762L |
| RVH421_SKIN | 114274201 | 114280455 | 114275068 | 114275068 | Missense_Mutation | C | T | p.S1765F |
| SBC3_LUNG | 114274201 | 114280455 | 114275112 | 114275112 | Missense_Mutation | G | A | p.E1780K |
| MRKNU1_BREAST | 114274201 | 114280455 | 114275149 | 114275149 | Missense_Mutation | A | T | p.K1792I |
| NCIH1930_LUNG | 114274201 | 114280455 | 114275162 | 114275162 | Missense_Mutation | C | A | p.D1796E |
| SW948_LARGE_INTESTINE | 114274201 | 114280455 | 114275162 | 114275162 | Missense_Mutation | C | A | p.D1796E |
| HGC27_STOMACH | 114274201 | 114280455 | 114275173 | 114275173 | Missense_Mutation | A | G | p.K1800R |
| SNU1040_LARGE_INTESTINE | 114274201 | 114280455 | 114275181 | 114275181 | Missense_Mutation | C | T | p.H1803Y |
| AN3CA_ENDOMETRIUM | 114274201 | 114280455 | 114275200 | 114275200 | Missense_Mutation | C | T | p.A1809V |
| LOVO_LARGE_INTESTINE | 114274201 | 114280455 | 114275200 | 114275200 | Missense_Mutation | C | T | p.A1809V |
| FTC133_THYROID | 114274201 | 114280455 | 114275230 | 114275230 | Missense_Mutation | C | T | p.A1819V |
| SW900_LUNG | 114274201 | 114280455 | 114275307 | 114275307 | Missense_Mutation | G | T | p.V1845L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114275356 | 114275356 | Missense_Mutation | C | T | p.A1861V |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114275422 | 114275422 | Missense_Mutation | C | A | p.P1883H |
| RDES_BONE | 114274201 | 114280455 | 114275458 | 114275458 | Missense_Mutation | C | A | p.S1895Y |
| SKRC20_KIDNEY | 114274201 | 114280455 | 114275497 | 114275497 | Missense_Mutation | G | A | p.G1908D |
| SKMES1_LUNG | 114274201 | 114280455 | 114275507 | 114275507 | Missense_Mutation | C | A | p.D1911E |
| ESO51_OESOPHAGUS | 114274201 | 114280455 | 114275608 | 114275608 | Missense_Mutation | C | T | p.T1945M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114275652 | 114275652 | Missense_Mutation | C | T | p.H1960Y |
| TGBC11TKB_STOMACH | 114274201 | 114280455 | 114275721 | 114275721 | Missense_Mutation | A | T | p.R1983W |
| TE5_OESOPHAGUS | 114274201 | 114280455 | 114275817 | 114275817 | Missense_Mutation | T | A | p.S2015T |
| KMH2_THYROID | 114274201 | 114280455 | 114275848 | 114275848 | Missense_Mutation | G | A | p.G2025D |
| HEC251_ENDOMETRIUM | 114274201 | 114280455 | 114275929 | 114275929 | Missense_Mutation | G | A | p.R2052Q |
| HEC251_ENDOMETRIUM | 114274201 | 114280455 | 114275991 | 114275991 | Missense_Mutation | A | G | p.I2073V |
| KPMRTRY_SOFT_TISSUE | 114274201 | 114280455 | 114276050 | 114276050 | Missense_Mutation | A | G | p.I2092M |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114276127 | 114276127 | Missense_Mutation | A | G | p.E2118G |
| MDAMB436_BREAST | 114274201 | 114280455 | 114276196 | 114276196 | Missense_Mutation | A | G | p.K2141R |
| SNU245_BILIARY_TRACT | 114274201 | 114280455 | 114276256 | 114276256 | Missense_Mutation | A | C | p.K2161T |
| HCC44_LUNG | 114274201 | 114280455 | 114276303 | 114276303 | Missense_Mutation | A | C | p.T2177P |
| NCIH2172_LUNG | 114274201 | 114280455 | 114276354 | 114276354 | Missense_Mutation | C | A | p.Q2194K |
| NCIH2342_LUNG | 114274201 | 114280455 | 114276399 | 114276399 | Missense_Mutation | G | T | p.G2209W |
| NCIH513_PLEURA | 114274201 | 114280455 | 114276420 | 114276420 | Missense_Mutation | G | T | p.G2216C |
| NCIBL128_MATCHED_NORMAL_TISSUE | 114274201 | 114280455 | 114276490 | 114276490 | Missense_Mutation | C | G | p.T2239S |
| MDAMB453_BREAST | 114274201 | 114280455 | 114276552 | 114276552 | Missense_Mutation | G | A | p.E2260K |
| SNU81_LARGE_INTESTINE | 114274201 | 114280455 | 114276594 | 114276594 | Missense_Mutation | C | T | p.R2274C |
| CHLA57_BONE | 114274201 | 114280455 | 114276595 | 114276595 | Missense_Mutation | G | A | p.R2274H |
| 127399_SOFT_TISSUE | 114274201 | 114280455 | 114276601 | 114276601 | Missense_Mutation | A | G | p.E2276G |
| HCC1569_BREAST | 114274201 | 114280455 | 114276733 | 114276733 | Missense_Mutation | G | A | p.S2320N |
| MDAPCA2B_PROSTATE | 114274201 | 114280455 | 114276754 | 114276754 | Missense_Mutation | G | A | p.C2327Y |
| OV56_OVARY | 114274201 | 114280455 | 114276799 | 114276799 | Missense_Mutation | G | T | p.G2342V |
| SNUC2A_LARGE_INTESTINE | 114274201 | 114280455 | 114276840 | 114276840 | Missense_Mutation | T | C | p.F2356L |
| SNUC2B_LARGE_INTESTINE | 114274201 | 114280455 | 114276840 | 114276840 | Missense_Mutation | T | C | p.F2356L |
| SW756_CERVIX | 114274201 | 114280455 | 114276850 | 114276850 | Missense_Mutation | C | T | p.S2359L |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114276870 | 114276870 | Missense_Mutation | G | T | p.D2366Y |
| NCIH211_LUNG | 114274201 | 114280455 | 114277017 | 114277017 | Missense_Mutation | A | T | p.S2415C |
| LS180_LARGE_INTESTINE | 114274201 | 114280455 | 114277018 | 114277018 | Missense_Mutation | G | A | p.S2415N |
| C4I_CERVIX | 114274201 | 114280455 | 114277023 | 114277023 | Missense_Mutation | G | A | p.D2417N |
| NCIH526_LUNG | 114274201 | 114280455 | 114277144 | 114277144 | Missense_Mutation | C | T | p.P2457L |
| CW2_LARGE_INTESTINE | 114274201 | 114280455 | 114277148 | 114277148 | Missense_Mutation | T | A | p.S2458R |
| HEC251_ENDOMETRIUM | 114274201 | 114280455 | 114277177 | 114277177 | Missense_Mutation | C | A | p.S2468Y |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114277186 | 114277186 | Missense_Mutation | G | A | p.S2471N |
| SNU81_LARGE_INTESTINE | 114274201 | 114280455 | 114277221 | 114277221 | Missense_Mutation | T | G | p.F2483V |
| HCC38_BREAST | 114274201 | 114280455 | 114277273 | 114277273 | Missense_Mutation | C | G | p.T2500R |
| KMRC2_KIDNEY | 114274201 | 114280455 | 114277277 | 114277277 | Missense_Mutation | A | C | p.E2501D |
| EPLC272H_LUNG | 114274201 | 114280455 | 114277326 | 114277326 | Missense_Mutation | G | A | p.E2518K |
| SNUC2A_LARGE_INTESTINE | 114274201 | 114280455 | 114277341 | 114277341 | Missense_Mutation | G | A | p.E2523K |
| GOTO_AUTONOMIC_GANGLIA | 114274201 | 114280455 | 114277341 | 114277341 | Missense_Mutation | G | C | p.E2523Q |
| SNUC2B_LARGE_INTESTINE | 114274201 | 114280455 | 114277341 | 114277341 | Missense_Mutation | G | A | p.E2523K |
| LCLC103H_LUNG | 114274201 | 114280455 | 114277502 | 114277502 | Missense_Mutation | C | A | p.N2576K |
| MFE319_ENDOMETRIUM | 114274201 | 114280455 | 114277600 | 114277600 | Missense_Mutation | G | T | p.R2609M |
| M14_SKIN | 114274201 | 114280455 | 114277624 | 114277624 | Missense_Mutation | A | T | p.Q2617L |
| MDAMB435S_SKIN | 114274201 | 114280455 | 114277624 | 114277624 | Missense_Mutation | A | T | p.Q2617L |
| SNU719_STOMACH | 114274201 | 114280455 | 114277674 | 114277674 | Missense_Mutation | G | A | p.V2634M |
| NCIH358_LUNG | 114274201 | 114280455 | 114277722 | 114277722 | Missense_Mutation | C | A | p.P2650T |
| NCIH2286_LUNG | 114274201 | 114280455 | 114277725 | 114277725 | Missense_Mutation | G | T | p.V2651L |
| SNU81_LARGE_INTESTINE | 114274201 | 114280455 | 114277738 | 114277738 | Missense_Mutation | C | T | p.S2655L |
| SW900_LUNG | 114274201 | 114280455 | 114277738 | 114277738 | Missense_Mutation | C | T | p.S2655L |
| NCIH1623_LUNG | 114274201 | 114280455 | 114277742 | 114277742 | Missense_Mutation | G | T | p.E2656D |
| MEWO_SKIN | 114274201 | 114280455 | 114277769 | 114277769 | Missense_Mutation | A | T | p.E2665D |
| CAL12T_LUNG | 114274201 | 114280455 | 114277777 | 114277777 | Missense_Mutation | C | A | p.P2668H |
| LB647SCLC_LUNG | 114274201 | 114280455 | 114277909 | 114277909 | Missense_Mutation | C | A | p.P2712H |
| SKMEL5_SKIN | 114274201 | 114280455 | 114278026 | 114278026 | Missense_Mutation | C | T | p.S2751F |
| MET2B | 114274201 | 114280455 | 114278097 | 114278097 | Missense_Mutation | C | T | p.H2775Y |
| TE4_OESOPHAGUS | 114274201 | 114280455 | 114278104 | 114278104 | Missense_Mutation | G | A | p.C2777Y |
| MEWO_SKIN | 114274201 | 114280455 | 114278143 | 114278143 | Missense_Mutation | C | T | p.S2790F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114278161 | 114278161 | Missense_Mutation | C | T | p.P2796L |
| TCYIK_CERVIX | 114274201 | 114280455 | 114278161 | 114278161 | Missense_Mutation | C | T | p.P2796L |
| NCIH1355_LUNG | 114274201 | 114280455 | 114278178 | 114278178 | Missense_Mutation | G | A | p.D2802N |
| HS706T_BONE | 114274201 | 114280455 | 114278393 | 114278393 | Missense_Mutation | A | T | p.K2873N |
| TE125T_FIBROBLAST | 114274201 | 114280455 | 114278406 | 114278406 | Missense_Mutation | A | C | p.K2878Q |
| LOVO_LARGE_INTESTINE | 114274201 | 114280455 | 114278419 | 114278419 | Missense_Mutation | C | T | p.T2882I |
| HOP62_LUNG | 114274201 | 114280455 | 114278449 | 114278449 | Missense_Mutation | C | A | p.S2892Y |
| NCIH513_PLEURA | 114274201 | 114280455 | 114278452 | 114278452 | Missense_Mutation | A | G | p.Q2893R |
| HEC6_ENDOMETRIUM | 114274201 | 114280455 | 114278506 | 114278506 | Missense_Mutation | C | T | p.S2911F |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114278515 | 114278515 | Missense_Mutation | C | T | p.A2914V |
| BPH1_PROSTATE | 114274201 | 114280455 | 114278562 | 114278562 | Missense_Mutation | A | G | p.N2930D |
| SNU1_STOMACH | 114274201 | 114280455 | 114278580 | 114278580 | Missense_Mutation | T | C | p.F2936L |
| SNU283_LARGE_INTESTINE | 114274201 | 114280455 | 114278622 | 114278622 | Missense_Mutation | C | T | p.H2950Y |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114278622 | 114278622 | Missense_Mutation | C | A | p.H2950N |
| SNUC5_LARGE_INTESTINE | 114274201 | 114280455 | 114278628 | 114278628 | Missense_Mutation | A | C | p.T2952P |
| STS0421_SOFT_TISSUE | 114274201 | 114280455 | 114278682 | 114278682 | Missense_Mutation | G | A | p.D2970N |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114278762 | 114278762 | Missense_Mutation | A | T | p.E2996D |
| NCIH1770_LUNG | 114274201 | 114280455 | 114278787 | 114278787 | Missense_Mutation | G | A | p.E3005K |
| HEC108_ENDOMETRIUM | 114274201 | 114280455 | 114278826 | 114278826 | Missense_Mutation | A | G | p.T3018A |
| DMS454_LUNG | 114274201 | 114280455 | 114278851 | 114278851 | Missense_Mutation | T | A | p.V3026D |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114278910 | 114278910 | Missense_Mutation | A | G | p.S3046G |
| CW2_LARGE_INTESTINE | 114274201 | 114280455 | 114278968 | 114278968 | Missense_Mutation | A | G | p.K3065R |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114279022 | 114279022 | Missense_Mutation | C | A | p.T3083N |
| DU145_PROSTATE | 114274201 | 114280455 | 114279036 | 114279036 | Missense_Mutation | C | A | p.P3088T |
| SNU1_STOMACH | 114274201 | 114280455 | 114279057 | 114279057 | Missense_Mutation | A | T | p.T3095S |
| SNU1040_LARGE_INTESTINE | 114274201 | 114280455 | 114279070 | 114279070 | Missense_Mutation | A | G | p.N3099S |
| JHUEM2_ENDOMETRIUM | 114274201 | 114280455 | 114279106 | 114279106 | Missense_Mutation | T | C | p.M3111T |
| NCIH1437_LUNG | 114274201 | 114280455 | 114279108 | 114279108 | Missense_Mutation | A | G | p.T3112A |
| NCIH1573_LUNG | 114274201 | 114280455 | 114279115 | 114279115 | Missense_Mutation | G | C | p.S3114T |
| MDAMB453_BREAST | 114274201 | 114280455 | 114279153 | 114279153 | Missense_Mutation | G | A | p.E3127K |
| BHY_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114279171 | 114279171 | Missense_Mutation | C | A | p.Q3133K |
| PACADD137_PANCREAS | 114274201 | 114280455 | 114279231 | 114279231 | Missense_Mutation | G | T | p.G3153W |
| SKMEL3_SKIN | 114274201 | 114280455 | 114279246 | 114279246 | Missense_Mutation | C | T | p.P3158S |
| CAL12T_LUNG | 114274201 | 114280455 | 114279264 | 114279264 | Missense_Mutation | G | C | p.E3164Q |
| HS578T_BREAST | 114274201 | 114280455 | 114279361 | 114279361 | Missense_Mutation | C | T | p.S3196L |
| NCIH847_LUNG | 114274201 | 114280455 | 114279366 | 114279366 | Missense_Mutation | G | C | p.A3198P |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114279463 | 114279463 | Missense_Mutation | C | T | p.T3230M |
| NCIH1930_LUNG | 114274201 | 114280455 | 114279519 | 114279519 | Missense_Mutation | G | A | p.E3249K |
| SISO_CERVIX | 114274201 | 114280455 | 114279533 | 114279533 | Missense_Mutation | A | C | p.Q3253H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114279533 | 114279533 | Missense_Mutation | A | C | p.Q3253H |
| BICR16_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114279597 | 114279597 | Missense_Mutation | G | A | p.D3275N |
| M14_SKIN | 114274201 | 114280455 | 114279597 | 114279597 | Missense_Mutation | G | A | p.D3275N |
| MDAMB435S_SKIN | 114274201 | 114280455 | 114279597 | 114279597 | Missense_Mutation | G | A | p.D3275N |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114279632 | 114279632 | Missense_Mutation | G | C | p.E3286D |
| SNUC2A_LARGE_INTESTINE | 114274201 | 114280455 | 114279648 | 114279648 | Missense_Mutation | A | G | p.M3292V |
| SNUC2B_LARGE_INTESTINE | 114274201 | 114280455 | 114279648 | 114279648 | Missense_Mutation | A | G | p.M3292V |
| TGBC11TKB_STOMACH | 114274201 | 114280455 | 114279671 | 114279671 | Missense_Mutation | A | C | p.E3299D |
| SBC1_LUNG | 114274201 | 114280455 | 114279766 | 114279766 | Missense_Mutation | C | G | p.S3331C |
| TK10_KIDNEY | 114274201 | 114280455 | 114279895 | 114279895 | Missense_Mutation | C | A | p.P3374H |
| SNUC5_LARGE_INTESTINE | 114274201 | 114280455 | 114280040 | 114280040 | Missense_Mutation | G | T | p.E3422D |
| NCIH650_LUNG | 114274201 | 114280455 | 114280156 | 114280156 | Missense_Mutation | A | T | p.K3461I |
| A498_KIDNEY | 114274201 | 114280455 | 114280200 | 114280200 | Missense_Mutation | G | A | p.E3476K |
| GP2D_LARGE_INTESTINE | 114274201 | 114280455 | 114280251 | 114280251 | Missense_Mutation | A | G | p.T3493A |
| GP5D_LARGE_INTESTINE | 114274201 | 114280455 | 114280251 | 114280251 | Missense_Mutation | A | G | p.T3493A |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114280317 | 114280317 | Missense_Mutation | G | C | p.V3515L |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114280404 | 114280404 | Missense_Mutation | G | C | p.E3544Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 114274201 | 114280455 | 114280410 | 114280410 | Missense_Mutation | C | A | p.L3546M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114280410 | 114280410 | Missense_Mutation | C | A | p.L3546M |
| SNUC2A_LARGE_INTESTINE | 114274201 | 114280455 | 114280450 | 114280450 | Missense_Mutation | C | T | p.A3559V |
| SNUC5_LARGE_INTESTINE | 114294441 | 114294605 | 114294508 | 114294508 | Missense_Mutation | A | G | p.Q3921R |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 114294441 | 114294605 | 114294547 | 114294547 | Missense_Mutation | A | T | p.D3934V |
| LNCAPCLONEFGC_PROSTATE | 114294441 | 114294605 | 114294566 | 114294566 | Missense_Mutation | A | G | p.I3940M |
| ISTSL1_LUNG | 114274201 | 114280455 | 114274299 | 114274299 | Nonsense_Mutation | G | T | p.E1509* |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114274201 | 114280455 | 114275347 | 114275347 | Nonsense_Mutation | C | G | p.S1858* |
| CORL321_PLEURA | 114274201 | 114280455 | 114275584 | 114275584 | Nonsense_Mutation | T | A | p.L1937* |
| SKMEL30_SKIN | 114274201 | 114280455 | 114275727 | 114275727 | Nonsense_Mutation | G | T | p.E1985* |
| LS411N_LARGE_INTESTINE | 114274201 | 114280455 | 114276543 | 114276543 | Nonsense_Mutation | C | T | p.Q2257* |
| C125PM_LARGE_INTESTINE | 114274201 | 114280455 | 114278002 | 114278002 | Nonsense_Mutation | T | G | p.L2743* |
| CW2_LARGE_INTESTINE | 114274201 | 114280455 | 114278595 | 114278595 | Nonsense_Mutation | G | T | p.E2941* |
| TMK1_STOMACH | 114274201 | 114280455 | 114278785 | 114278785 | Nonsense_Mutation | G | A | p.W3004* |
| NCIH2342_LUNG | 114274201 | 114280455 | 114279361 | 114279361 | Nonsense_Mutation | C | A | p.S3196* |
| NCIH513_PLEURA | 114274201 | 114280455 | 114279859 | 114279859 | Nonsense_Mutation | C | G | p.S3362* |
| NCIH2347_LUNG | 114274201 | 114280455 | 114279900 | 114279900 | Nonsense_Mutation | G | T | p.G3376* |
| 647V_URINARY_TRACT | 114274201 | 114280455 | 114280014 | 114280014 | Nonsense_Mutation | G | T | p.E3414* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANK2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_425876 | 4 | 114271383:114271405:114274200:114280455:114281978:114282053 | 114274200:114280455 | ENST00000357077.4,ENST00000264366.6 | LGG | rs3733615 | chr4:114276884 | A/G | 2.35e-04 |
| exon_skip_425876 | 4 | 114271383:114271405:114274200:114280455:114281978:114282053 | 114274200:114280455 | ENST00000357077.4,ENST00000264366.6 | LGG | rs10013743 | chr4:114279422 | A/G | 3.26e-03 |
| exon_skip_425876 | 4 | 114271383:114271405:114274200:114280455:114281978:114282053 | 114274200:114280455 | ENST00000357077.4,ENST00000264366.6 | LGG | rs28377576 | chr4:114276880 | T/C | 3.41e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANK2 |
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RelatedDrugs for ANK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ANK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ANK2 | C1970119 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | 1 | CTD_human;UNIPROT |
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