| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471021 | 7 | 128431463:128431605:128432153:128432237:128432373:128432481 | 128432153:128432237 | ENSG00000128596.12 | ENST00000459946.1 |
| exon_skip_471022 | 7 | 128434747:128434822:128441239:128441527:128444703:128444815 | 128441239:128441527 | ENSG00000128596.12 | ENST00000378685.4 |
| exon_skip_471024 | 7 | 128434747:128434822:128441239:128441563:128444703:128444815 | 128441239:128441563 | ENSG00000128596.12 | ENST00000464832.1,ENST00000487361.1,ENST00000297788.4 |
| exon_skip_471025 | 7 | 128445901:128445955:128446290:128446449:128446741:128446912 | 128446290:128446449 | ENSG00000128596.12 | ENST00000494552.1,ENST00000297788.4 |
| exon_skip_471043 | 7 | 128445901:128445955:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000378685.4,ENST00000464832.1 |
| exon_skip_471045 | 7 | 128446428:128446449:128446741:128446912:128447413:128447599 | 128446741:128446912 | ENSG00000128596.12 | ENST00000464672.1,ENST00000494552.1,ENST00000297788.4 |
| exon_skip_471047 | 7 | 128446800:128446912:128447413:128447599:128457811:128457918 | 128447413:128447599 | ENSG00000128596.12 | ENST00000487361.1 |
| exon_skip_471050 | 7 | 128447413:128447599:128449503:128449698:128450192:128450250 | 128449503:128449698 | ENSG00000128596.12 | ENST00000464672.1,ENST00000494552.1,ENST00000480137.1,ENST00000297788.4 |
| exon_skip_471060 | 7 | 128447413:128447599:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000487361.1 |
| exon_skip_471063 | 7 | 128450192:128450420:128451315:128451406:128451853:128452366 | 128451315:128451406 | ENSG00000128596.12 | ENST00000480137.1 |
| exon_skip_471069 | 7 | 128451853:128452366:128452761:128452983:128454691:128454973 | 128452761:128452983 | ENSG00000128596.12 | ENST00000494552.1,ENST00000480137.1,ENST00000297788.4 |
| exon_skip_471071 | 7 | 128451853:128452366:128452761:128452983:128461852:128461939 | 128452761:128452983 | ENSG00000128596.12 | ENST00000464672.1 |
| exon_skip_471082 | 7 | 128454702:128454973:128455667:128455985:128457811:128457918 | 128455667:128455985 | ENSG00000128596.12 | ENST00000297788.4 |
| exon_skip_471087 | 7 | 128455851:128455985:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000297788.4 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_471021 | 7 | 128431463:128431605:128432153:128432237:128432373:128432481 | 128432153:128432237 | ENSG00000128596.12 | ENST00000459946.1 |
| exon_skip_471022 | 7 | 128434747:128434822:128441239:128441527:128444703:128444815 | 128441239:128441527 | ENSG00000128596.12 | ENST00000378685.4 |
| exon_skip_471024 | 7 | 128434747:128434822:128441239:128441563:128444703:128444815 | 128441239:128441563 | ENSG00000128596.12 | ENST00000464832.1,ENST00000487361.1,ENST00000297788.4 |
| exon_skip_471025 | 7 | 128445901:128445955:128446290:128446449:128446741:128446912 | 128446290:128446449 | ENSG00000128596.12 | ENST00000297788.4,ENST00000494552.1 |
| exon_skip_471043 | 7 | 128445901:128445955:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000378685.4,ENST00000464832.1 |
| exon_skip_471045 | 7 | 128446428:128446449:128446741:128446912:128447413:128447599 | 128446741:128446912 | ENSG00000128596.12 | ENST00000297788.4,ENST00000494552.1,ENST00000464672.1 |
| exon_skip_471047 | 7 | 128446800:128446912:128447413:128447599:128457811:128457918 | 128447413:128447599 | ENSG00000128596.12 | ENST00000487361.1 |
| exon_skip_471050 | 7 | 128447413:128447599:128449503:128449698:128450192:128450250 | 128449503:128449698 | ENSG00000128596.12 | ENST00000297788.4,ENST00000480137.1,ENST00000494552.1,ENST00000464672.1 |
| exon_skip_471060 | 7 | 128447413:128447599:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000487361.1 |
| exon_skip_471063 | 7 | 128450192:128450420:128451315:128451406:128451853:128452366 | 128451315:128451406 | ENSG00000128596.12 | ENST00000480137.1 |
| exon_skip_471069 | 7 | 128451853:128452366:128452761:128452983:128454691:128454973 | 128452761:128452983 | ENSG00000128596.12 | ENST00000297788.4,ENST00000480137.1,ENST00000494552.1 |
| exon_skip_471071 | 7 | 128451853:128452366:128452761:128452983:128461852:128461939 | 128452761:128452983 | ENSG00000128596.12 | ENST00000464672.1 |
| exon_skip_471082 | 7 | 128454702:128454973:128455667:128455985:128457811:128457918 | 128455667:128455985 | ENSG00000128596.12 | ENST00000297788.4 |
| exon_skip_471087 | 7 | 128455851:128455985:128457811:128457918:128461852:128461939 | 128457811:128457918 | ENSG00000128596.12 | ENST00000297788.4 |
| 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 |
| Q96JN2 | 115 | 223 | 212 | 223 | Alternative sequence | ID=VSP_027841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 115 | 223 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 115 | 223 | 5 | 337 | Compositional bias | Note=Glu-rich |
| Q96JN2 | 115 | 223 | 218 | 218 | Natural variant | ID=VAR_034880;Note=D->H;Dbxref=dbSNP:rs3816887 |
| Q96JN2 | 363 | 416 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 363 | 416 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 416 | 473 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 416 | 473 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 535 | 600 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 535 | 600 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 847 | 921 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 847 | 921 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 847 | 921 | 859 | 974 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96JN2 | 1015 | 1121 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 1015 | 1121 | 958 | 1154 | Alternative sequence | ID=VSP_027844;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 1015 | 1121 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 1015 | 1121 | 1036 | 1110 | Compositional bias | Note=Glu-rich |
| Q96JN2 | 1015 | 1121 | 1049 | 1049 | Natural variant | ID=VAR_034881;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11347906,ECO:0000269|PubMed:12690205,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|Ref.5;Dbxref=dbSNP:rs472 |
| 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 |
| Q96JN2 | 115 | 223 | 212 | 223 | Alternative sequence | ID=VSP_027841;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 115 | 223 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 115 | 223 | 5 | 337 | Compositional bias | Note=Glu-rich |
| Q96JN2 | 115 | 223 | 218 | 218 | Natural variant | ID=VAR_034880;Note=D->H;Dbxref=dbSNP:rs3816887 |
| Q96JN2 | 363 | 416 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 363 | 416 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 416 | 473 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 416 | 473 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 535 | 600 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 535 | 600 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 847 | 921 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 847 | 921 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 847 | 921 | 859 | 974 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96JN2 | 1015 | 1121 | 364 | 1121 | Alternative sequence | ID=VSP_027842;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 1015 | 1121 | 958 | 1154 | Alternative sequence | ID=VSP_027844;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96JN2 | 1015 | 1121 | 1 | 1154 | Chain | ID=PRO_0000300639;Note=Coiled-coil domain-containing protein 136 |
| Q96JN2 | 1015 | 1121 | 1036 | 1110 | Compositional bias | Note=Glu-rich |
| Q96JN2 | 1015 | 1121 | 1049 | 1049 | Natural variant | ID=VAR_034881;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11347906,ECO:0000269|PubMed:12690205,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|Ref.5;Dbxref=dbSNP:rs472 |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| MFE319_ENDOMETRIUM | 128446291 | 128446449 | 128446326 | 128446327 | Frame_Shift_Ins | - | A | p.K376fs |
| OC314_OVARY | 128455668 | 128455985 | 128455758 | 128455759 | Frame_Shift_Ins | - | A | p.E1046fs |
| TTC709_SOFT_TISSUE | 128455668 | 128455985 | 128455758 | 128455759 | Frame_Shift_Ins | - | A | p.E1046fs |
| NCIH1417_LUNG | 128441240 | 128441527 | 128441422 | 128441422 | Missense_Mutation | C | T | p.R177W |
| NCIH1417_LUNG | 128441240 | 128441563 | 128441422 | 128441422 | Missense_Mutation | C | T | p.R177W |
| UMUC1_URINARY_TRACT | 128441240 | 128441527 | 128441427 | 128441427 | Missense_Mutation | G | A | p.M178I |
| UMUC1_URINARY_TRACT | 128441240 | 128441563 | 128441427 | 128441427 | Missense_Mutation | G | A | p.M178I |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128441240 | 128441527 | 128441458 | 128441458 | Missense_Mutation | C | T | p.R189W |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128441240 | 128441563 | 128441458 | 128441458 | Missense_Mutation | C | T | p.R189W |
| OAW42_OVARY | 128441240 | 128441527 | 128441491 | 128441491 | Missense_Mutation | C | A | p.R200S |
| OAW42_OVARY | 128441240 | 128441563 | 128441491 | 128441491 | Missense_Mutation | C | A | p.R200S |
| NCIH510_LUNG | 128446291 | 128446449 | 128446336 | 128446336 | Missense_Mutation | G | A | p.D379N |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128446291 | 128446449 | 128446339 | 128446339 | Missense_Mutation | A | G | p.T380A |
| NCIH1623_LUNG | 128446291 | 128446449 | 128446404 | 128446404 | Missense_Mutation | G | T | p.Q401H |
| LU99_LUNG | 128446742 | 128446912 | 128446751 | 128446751 | Missense_Mutation | T | G | p.C420G |
| HEC108_ENDOMETRIUM | 128446742 | 128446912 | 128446755 | 128446755 | Missense_Mutation | G | A | p.R421Q |
| CORL23_LUNG | 128446742 | 128446912 | 128446755 | 128446755 | Missense_Mutation | G | A | p.R421Q |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128446742 | 128446912 | 128446764 | 128446764 | Missense_Mutation | A | C | p.K424T |
| NCIH1385_LUNG | 128447414 | 128447599 | 128447429 | 128447429 | Missense_Mutation | G | C | p.A479P |
| LU139_LUNG | 128447414 | 128447599 | 128447483 | 128447483 | Missense_Mutation | C | T | p.R497W |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 128447414 | 128447599 | 128447505 | 128447505 | Missense_Mutation | A | T | p.Q504L |
| NCIH1755_LUNG | 128447414 | 128447599 | 128447554 | 128447554 | Missense_Mutation | G | T | p.K520N |
| H3118_UPPER_AERODIGESTIVE_TRACT | 128449504 | 128449698 | 128449558 | 128449558 | Missense_Mutation | C | G | p.Q554E |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 128449504 | 128449698 | 128449646 | 128449646 | Missense_Mutation | A | G | p.E583G |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128449504 | 128449698 | 128449688 | 128449688 | Missense_Mutation | T | C | p.L597P |
| HCC1143_BREAST | 128452762 | 128452983 | 128452789 | 128452789 | Missense_Mutation | C | G | p.L857V |
| NCIH441_LUNG | 128452762 | 128452983 | 128452846 | 128452846 | Missense_Mutation | C | A | p.Q876K |
| HCC2450_LUNG | 128452762 | 128452983 | 128452966 | 128452966 | Missense_Mutation | C | A | p.Q916K |
| HEC1_ENDOMETRIUM | 128455668 | 128455985 | 128455699 | 128455699 | Missense_Mutation | G | A | p.S1026N |
| NCIH1385_LUNG | 128455668 | 128455985 | 128455703 | 128455703 | Missense_Mutation | G | T | p.Q1027H |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128455668 | 128455985 | 128455901 | 128455901 | Missense_Mutation | C | A | p.D1093E |
| HCC1395_BREAST | 128455668 | 128455985 | 128455930 | 128455930 | Missense_Mutation | C | G | p.S1103C |
| MCC13_SKIN | 128455668 | 128455985 | 128455933 | 128455933 | Missense_Mutation | C | T | p.S1104F |
| SNU1_STOMACH | 128455668 | 128455985 | 128455945 | 128455945 | Missense_Mutation | C | T | p.P1108L |
| CHP126_AUTONOMIC_GANGLIA | 128457812 | 128457918 | 128457848 | 128457848 | Missense_Mutation | C | G | p.P1134A |
| CHP126_AUTONOMIC_GANGLIA | 128457812 | 128457918 | 128457848 | 128457849 | Missense_Mutation | CC | GA | p.P1134D |
| CHP126_AUTONOMIC_GANGLIA | 128457812 | 128457918 | 128457849 | 128457849 | Missense_Mutation | C | A | p.P1134H |
| BICR16_UPPER_AERODIGESTIVE_TRACT | 128457812 | 128457918 | 128457876 | 128457876 | Missense_Mutation | C | G | p.A1143G |
| HEC251_ENDOMETRIUM | 128457812 | 128457918 | 128457901 | 128457901 | Missense_Mutation | G | T | p.E1151D |
| HCC2814_LUNG | 128455668 | 128455985 | 128455758 | 128455758 | Nonsense_Mutation | G | T | p.E1046* |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128446742 | 128446912 | 128446742 | 128446742 | Splice_Site | G | A | p.E417K |