| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13330 | 1 | 161475776:161475797:161476123:161476381:161479609:161479689 | 161476123:161476381 | ENSG00000143226.9 | ENST00000271450.6 |
| exon_skip_13331 | 1 | 161475776:161475797:161476123:161476497:161479609:161479689 | 161476123:161476497 | ENSG00000143226.9 | ENST00000536731.1 |
| exon_skip_13332 | 1 | 161475776:161475797:161476126:161476381:161479609:161479689 | 161476126:161476381 | ENSG00000143226.9 | ENST00000367972.4,ENST00000467654.1 |
| exon_skip_13333 | 1 | 161475776:161475797:161476126:161476497:161479609:161479689 | 161476126:161476497 | ENSG00000143226.9 | ENST00000483665.2 |
| exon_skip_13335 | 1 | 161479609:161479864:161480623:161480746:161483684:161483722 | 161480623:161480746 | ENSG00000143226.9 | ENST00000367972.4,ENST00000271450.6,ENST00000483665.2 |
| exon_skip_13339 | 1 | 161480630:161480746:161483684:161483722:161487764:161487927 | 161483684:161483722 | ENSG00000143226.9 | ENST00000367972.4,ENST00000271450.6,ENST00000483665.2 |
| exon_skip_13342 | 1 | 161480630:161480746:161487764:161487927:161489378:161489450 | 161487764:161487927 | ENSG00000143226.9 | ENST00000467525.1 |
| exon_skip_13356 | 1 | 161487764:161487927:161489378:161489450:161489591:161489781 | 161489378:161489450 | ENSG00000143226.9 | ENST00000491841.1 |
| exon_skip_13357 | 1 | 161487764:161487927:161489378:161489503:161493079:161493226 | 161489378:161489503 | ENSG00000143226.9 | ENST00000467525.1 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13330 | 1 | 161475776:161475797:161476123:161476381:161479609:161479689 | 161476123:161476381 | ENSG00000143226.9 | ENST00000271450.6 |
| exon_skip_13331 | 1 | 161475776:161475797:161476123:161476497:161479609:161479689 | 161476123:161476497 | ENSG00000143226.9 | ENST00000536731.1 |
| exon_skip_13332 | 1 | 161475776:161475797:161476126:161476381:161479609:161479689 | 161476126:161476381 | ENSG00000143226.9 | ENST00000367972.4,ENST00000467654.1 |
| exon_skip_13333 | 1 | 161475776:161475797:161476126:161476497:161479609:161479689 | 161476126:161476497 | ENSG00000143226.9 | ENST00000483665.2 |
| exon_skip_13335 | 1 | 161479609:161479864:161480623:161480746:161483684:161483722 | 161480623:161480746 | ENSG00000143226.9 | ENST00000367972.4,ENST00000271450.6,ENST00000483665.2 |
| exon_skip_13339 | 1 | 161480630:161480746:161483684:161483722:161487764:161487927 | 161483684:161483722 | ENSG00000143226.9 | ENST00000367972.4,ENST00000271450.6,ENST00000483665.2 |
| exon_skip_13342 | 1 | 161480630:161480746:161487764:161487927:161489378:161489450 | 161487764:161487927 | ENSG00000143226.9 | ENST00000467525.1 |
| exon_skip_13356 | 1 | 161487764:161487927:161489378:161489450:161489591:161489781 | 161489378:161489450 | ENSG00000143226.9 | ENST00000491841.1 |
| exon_skip_13357 | 1 | 161487764:161487927:161489378:161489503:161493079:161493226 | 161489378:161489503 | ENSG00000143226.9 | ENST00000467525.1 |
| 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 |
| P12318 | 35 | 121 | 35 | 35 | Alternative sequence | ID=VSP_036865;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P12318 | 35 | 121 | 42 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 50 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 57 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 68 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 73 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 80 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FCG |
| P12318 | 35 | 121 | 87 | 93 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 100 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 107 | 110 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1H9V |
| P12318 | 35 | 121 | 115 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 34 | 317 | Chain | ID=PRO_0000015145;Note=Low affinity immunoglobulin gamma Fc region receptor II-a |
| P12318 | 35 | 121 | 62 | 104 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1FCG,ECO:0000269|PubMed:10331870,ECO:0000269|PubMed:11397093,ECO:0000269|PubMed:19011614;Dbxref=PMID:10331870,PMID:11397093,PMID:19011614 |
| P12318 | 35 | 121 | 39 | 118 | Domain | Note=Ig-like C2-type 1 |
| P12318 | 35 | 121 | 97 | 97 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10397151;Dbxref=PMID:10397151 |
| P12318 | 35 | 121 | 96 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 63 | 63 | Natural variant | ID=VAR_054857;Note=Q->R;Dbxref=dbSNP:rs9427398 |
| P12318 | 35 | 121 | 34 | 217 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 34 | 317 | Chain | ID=PRO_0000015145;Note=Low affinity immunoglobulin gamma Fc region receptor II-a |
| P12318 | 206 | 247 | 218 | 218 | Natural variant | ID=VAR_054859;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17851834,PMID:15489334 |
| P12318 | 206 | 247 | 34 | 217 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 241 | 317 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 218 | 240 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P12318 | 35 | 121 | 35 | 35 | Alternative sequence | ID=VSP_036865;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P12318 | 35 | 121 | 42 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 50 | 53 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 57 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 68 | 71 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 73 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 80 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FCG |
| P12318 | 35 | 121 | 87 | 93 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 100 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 107 | 110 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1H9V |
| P12318 | 35 | 121 | 115 | 120 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 34 | 317 | Chain | ID=PRO_0000015145;Note=Low affinity immunoglobulin gamma Fc region receptor II-a |
| P12318 | 35 | 121 | 62 | 104 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1FCG,ECO:0000269|PubMed:10331870,ECO:0000269|PubMed:11397093,ECO:0000269|PubMed:19011614;Dbxref=PMID:10331870,PMID:11397093,PMID:19011614 |
| P12318 | 35 | 121 | 39 | 118 | Domain | Note=Ig-like C2-type 1 |
| P12318 | 35 | 121 | 97 | 97 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10397151;Dbxref=PMID:10397151 |
| P12318 | 35 | 121 | 96 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RY4 |
| P12318 | 35 | 121 | 63 | 63 | Natural variant | ID=VAR_054857;Note=Q->R;Dbxref=dbSNP:rs9427398 |
| P12318 | 35 | 121 | 34 | 217 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 34 | 317 | Chain | ID=PRO_0000015145;Note=Low affinity immunoglobulin gamma Fc region receptor II-a |
| P12318 | 206 | 247 | 218 | 218 | Natural variant | ID=VAR_054859;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17851834,PMID:15489334 |
| P12318 | 206 | 247 | 34 | 217 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 241 | 317 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P12318 | 206 | 247 | 218 | 240 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_13332 exon_skip_13330
| 161476124 | 161476381 | 161476156 | 161476156 | Frame_Shift_Del | C | - | p.P48fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_13331 exon_skip_13333
| 161476124 | 161476497 | 161476156 | 161476156 | Frame_Shift_Del | C | - | p.P48fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_13332 exon_skip_13330
| 161476127 | 161476381 | 161476156 | 161476156 | Frame_Shift_Del | C | - | p.P48fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_13331 exon_skip_13333
| 161476127 | 161476497 | 161476156 | 161476156 | Frame_Shift_Del | C | - | p.P48fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_13332 exon_skip_13330
| 161476124 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| BLCA | TCGA-UY-A78K-01 | exon_skip_13331 exon_skip_13333
| 161476124 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| BLCA | TCGA-UY-A78K-01 | exon_skip_13332 exon_skip_13330
| 161476127 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| BLCA | TCGA-UY-A78K-01 | exon_skip_13331 exon_skip_13333
| 161476127 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13332 exon_skip_13330
| 161476124 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13332 exon_skip_13330
| 161476124 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74X |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13331 exon_skip_13333
| 161476124 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13331 exon_skip_13333
| 161476124 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74X |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13332 exon_skip_13330
| 161476127 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13332 exon_skip_13330
| 161476127 | 161476381 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74X |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13331 exon_skip_13333
| 161476127 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74* |
| SKCM | TCGA-D3-A5GS-06 | exon_skip_13331 exon_skip_13333
| 161476127 | 161476497 | 161476237 | 161476237 | Nonsense_Mutation | C | T | p.Q74X |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIH196_LUNG | 161476124 | 161476497 | 161476138 | 161476138 | Missense_Mutation | G | T | p.A41S |
| NCIH196_LUNG | 161476127 | 161476381 | 161476138 | 161476138 | Missense_Mutation | G | T | p.A41S |
| NCIH196_LUNG | 161476127 | 161476497 | 161476138 | 161476138 | Missense_Mutation | G | T | p.A41S |
| NCIH196_LUNG | 161476124 | 161476381 | 161476138 | 161476138 | Missense_Mutation | G | T | p.A41S |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 161476124 | 161476497 | 161476214 | 161476214 | Missense_Mutation | G | A | p.R66H |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 161476127 | 161476381 | 161476214 | 161476214 | Missense_Mutation | G | A | p.R66H |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 161476127 | 161476497 | 161476214 | 161476214 | Missense_Mutation | G | A | p.R66H |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 161476124 | 161476381 | 161476214 | 161476214 | Missense_Mutation | G | A | p.R66H |
| SNUC4_LARGE_INTESTINE | 161476124 | 161476497 | 161476228 | 161476228 | Missense_Mutation | G | A | p.D71N |
| SNUC4_LARGE_INTESTINE | 161476127 | 161476381 | 161476228 | 161476228 | Missense_Mutation | G | A | p.D71N |
| SNUC4_LARGE_INTESTINE | 161476127 | 161476497 | 161476228 | 161476228 | Missense_Mutation | G | A | p.D71N |
| SNUC4_LARGE_INTESTINE | 161476124 | 161476381 | 161476228 | 161476228 | Missense_Mutation | G | A | p.D71N |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161476124 | 161476497 | 161476372 | 161476372 | Missense_Mutation | G | A | p.V119M |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161476127 | 161476381 | 161476372 | 161476372 | Missense_Mutation | G | A | p.V119M |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161476127 | 161476497 | 161476372 | 161476372 | Missense_Mutation | G | A | p.V119M |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161476124 | 161476381 | 161476372 | 161476372 | Missense_Mutation | G | A | p.V119M |
| COLO684_ENDOMETRIUM | 161480624 | 161480746 | 161480633 | 161480633 | Missense_Mutation | T | C | p.M210T |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161480624 | 161480746 | 161480678 | 161480678 | Missense_Mutation | C | G | p.A225G |
| OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 161480624 | 161480746 | 161480678 | 161480678 | Missense_Mutation | C | G | p.A225G |
| MFE296_ENDOMETRIUM | 161483685 | 161483722 | 161483712 | 161483712 | Missense_Mutation | C | T | p.A257V |
| JHH6_LIVER | 161487765 | 161487927 | 161487774 | 161487774 | Missense_Mutation | C | T | p.R264C |
| CCK81_LARGE_INTESTINE | 161487765 | 161487927 | 161487774 | 161487774 | Missense_Mutation | C | T | p.R264C |
| GAK_SKIN | 161487765 | 161487927 | 161487774 | 161487774 | Missense_Mutation | C | T | p.R264C |
| OVKATE_OVARY | 161487765 | 161487927 | 161487774 | 161487774 | Missense_Mutation | C | T | p.R264C |
| OVSAHO_OVARY | 161487765 | 161487927 | 161487840 | 161487840 | Missense_Mutation | G | A | p.G286S |
| L33_PANCREAS | 161487765 | 161487927 | 161487882 | 161487882 | Missense_Mutation | G | A | p.D300N |
| OVCAR5_OVARY | 161487765 | 161487927 | 161487882 | 161487882 | Missense_Mutation | G | A | p.D300N |
| HT55_LARGE_INTESTINE | 161487765 | 161487927 | 161487929 | 161487929 | Missense_Mutation | T | A | p.S315R |
| VMRCLCD_LUNG | 161487765 | 161487927 | 161487766 | 161487766 | Splice_Site | C | A | p.P261Q |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_13335 | 1 | 161479609:161479864:161480623:161480746:161483684:161483722 | 161480623:161480746 | ENST00000367972.4,ENST00000271450.6,ENST00000483665.2 | GBM | rs11810143 | chr1:161480649 | A/G | 1.98e-07
|
| exon_skip_13331 | 1 | 161475776:161475797:161476123:161476497:161479609:161479689 | 161476123:161476497 | ENST00000536731.1 | GBM | rs9427397 | chr1:161476204 | C/T | 9.64e-09
|
| exon_skip_13331 | 1 | 161475776:161475797:161476123:161476497:161479609:161479689 | 161476123:161476497 | ENST00000536731.1 | GBM | rs9427398 | chr1:161476205 | A/G | 1.15e-08
|
| exon_skip_13332 | 1 | 161475776:161475797:161476126:161476381:161479609:161479689 | 161476126:161476381 | ENST00000367972.4,ENST00000467654.1 | GBM | rs9427397 | chr1:161476204 | C/T | 9.64e-09
|
| exon_skip_13332 | 1 | 161475776:161475797:161476126:161476381:161479609:161479689 | 161476126:161476381 | ENST00000367972.4,ENST00000467654.1 | GBM | rs9427398 | chr1:161476205 | A/G | 1.15e-08
|
| exon_skip_13333 | 1 | 161475776:161475797:161476126:161476497:161479609:161479689 | 161476126:161476497 | ENST00000483665.2 | GBM | rs9427397 | chr1:161476204 | C/T | 9.64e-09
|
| exon_skip_13333 | 1 | 161475776:161475797:161476126:161476497:161479609:161479689 | 161476126:161476497 | ENST00000483665.2 | GBM | rs9427398 | chr1:161476205 | A/G | 1.15e-08
|
| exon_skip_13330 | 1 | 161475776:161475797:161476123:161476381:161479609:161479689 | 161476123:161476381 | ENST00000271450.6 | GBM | rs9427397 | chr1:161476204 | C/T | 9.64e-09
|
| exon_skip_13330 | 1 | 161475776:161475797:161476123:161476381:161479609:161479689 | 161476123:161476381 | ENST00000271450.6 | GBM | rs9427398 | chr1:161476205 | A/G | 1.15e-08
|