| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105039 | 14 | 21538526:21538558:21541203:21541401:21542090:21543150 | 21541203:21541401 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3,ENST00000555038.1,ENST00000553709.1 |
| exon_skip_105046 | 14 | 21541203:21541401:21542090:21543150:21543490:21543658 | 21542090:21543150 | ENSG00000165801.5 | ENST00000556399.1 |
| exon_skip_105047 | 14 | 21541203:21541401:21542090:21543339:21543490:21543658 | 21542090:21543339 | ENSG00000165801.5 | ENST00000298693.3,ENST00000555038.1,ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105052 | 14 | 21543490:21543658:21543781:21543924:21544518:21544615 | 21543781:21543924 | ENSG00000165801.5 | ENST00000556399.1 |
| exon_skip_105054 | 14 | 21543490:21543658:21543803:21543924:21544518:21544615 | 21543803:21543924 | ENSG00000165801.5 | ENST00000298693.3,ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105056 | 14 | 21544721:21544802:21544932:21545049:21546335:21546366 | 21544932:21545049 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3,ENST00000298694.4,ENST00000555232.1,ENST00000553709.1 |
| exon_skip_105058 | 14 | 21546335:21546431:21546531:21546647:21547042:21547169 | 21546531:21546647 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3,ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105062 | 14 | 21548818:21548941:21549031:21549175:21549667:21550278 | 21549031:21549175 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3,ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105065 | 14 | 21550989:21551076:21551993:21552209:21552911:21553082 | 21551993:21552209 | ENSG00000165801.5 | ENST00000554514.1,ENST00000556399.1,ENST00000298693.3,ENST00000298694.4,ENST00000555232.1,ENST00000553709.1 |
| exon_skip_105067 | 14 | 21553847:21554025:21555159:21555264:21555478:21555622 | 21555159:21555264 | ENSG00000165801.5 | ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105069 | 14 | 21553847:21554025:21555159:21555264:21556126:21556257 | 21555159:21555264 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3 |
| exon_skip_105074 | 14 | 21553847:21554025:21555159:21555622:21556126:21556257 | 21555159:21555622 | ENSG00000165801.5 | ENST00000554514.1 |
| exon_skip_105078 | 14 | 21555159:21555264:21555478:21555622:21556126:21556257 | 21555478:21555622 | ENSG00000165801.5 | ENST00000298694.4,ENST00000553709.1 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105039 | 14 | 21538526:21538558:21541203:21541401:21542090:21543150 | 21541203:21541401 | ENSG00000165801.5 | ENST00000555038.1,ENST00000556399.1,ENST00000553709.1,ENST00000298693.3 |
| exon_skip_105046 | 14 | 21541203:21541401:21542090:21543150:21543490:21543658 | 21542090:21543150 | ENSG00000165801.5 | ENST00000556399.1 |
| exon_skip_105047 | 14 | 21541203:21541401:21542090:21543339:21543490:21543658 | 21542090:21543339 | ENSG00000165801.5 | ENST00000298694.4,ENST00000555038.1,ENST00000553709.1,ENST00000298693.3 |
| exon_skip_105052 | 14 | 21543490:21543658:21543781:21543924:21544518:21544615 | 21543781:21543924 | ENSG00000165801.5 | ENST00000556399.1 |
| exon_skip_105054 | 14 | 21543490:21543658:21543803:21543924:21544518:21544615 | 21543803:21543924 | ENSG00000165801.5 | ENST00000298694.4,ENST00000553709.1,ENST00000298693.3 |
| exon_skip_105056 | 14 | 21544721:21544802:21544932:21545049:21546335:21546366 | 21544932:21545049 | ENSG00000165801.5 | ENST00000298694.4,ENST00000556399.1,ENST00000553709.1,ENST00000555232.1,ENST00000298693.3 |
| exon_skip_105058 | 14 | 21546335:21546431:21546531:21546647:21547042:21547169 | 21546531:21546647 | ENSG00000165801.5 | ENST00000298694.4,ENST00000556399.1,ENST00000553709.1,ENST00000298693.3 |
| exon_skip_105062 | 14 | 21548818:21548941:21549031:21549175:21549667:21550278 | 21549031:21549175 | ENSG00000165801.5 | ENST00000298694.4,ENST00000556399.1,ENST00000553709.1,ENST00000298693.3 |
| exon_skip_105065 | 14 | 21550989:21551076:21551993:21552209:21552911:21553082 | 21551993:21552209 | ENSG00000165801.5 | ENST00000298694.4,ENST00000556399.1,ENST00000553709.1,ENST00000555232.1,ENST00000298693.3,ENST00000554514.1 |
| exon_skip_105067 | 14 | 21553847:21554025:21555159:21555264:21555478:21555622 | 21555159:21555264 | ENSG00000165801.5 | ENST00000298694.4,ENST00000553709.1 |
| exon_skip_105069 | 14 | 21553847:21554025:21555159:21555264:21556126:21556257 | 21555159:21555264 | ENSG00000165801.5 | ENST00000556399.1,ENST00000298693.3 |
| exon_skip_105074 | 14 | 21553847:21554025:21555159:21555622:21556126:21556257 | 21555159:21555622 | ENSG00000165801.5 | ENST00000554514.1 |
| exon_skip_105078 | 14 | 21555159:21555264:21555478:21555622:21556126:21556257 | 21555478:21555622 | ENSG00000165801.5 | ENST00000298694.4,ENST00000553709.1 |
| 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 |
| Q8TER5 | 639 | 678 | 1 | 714 | Alternative sequence | ID=VSP_030381;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TER5 | 639 | 678 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 832 | 880 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 832 | 880 | 828 | 871 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TER5 | 1191 | 1263 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1191 | 1263 | 1085 | 1253 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q8TER5 | 1379 | 1414 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1414 | 1462 | 1415 | 1519 | Alternative sequence | ID=VSP_030382;Note=In isoform 3. AARTRASVAVSSFEHAGPSLPGLSPGACSLPARVEEEAWDLDVKQISLAPETLDSSGDVSPGPRNSPSLQPPHPGSSTPTLASRGILGLSRQSHARALSDPTTPL->GEGQGAGGWPPGVKTLTMRIQRGGMVESQERHLVPKSVGLAGRPSVRLRVIPGSQEGFPTPAPHPPLPTLCSRPHPGLRGRVIL;Ontology_term=ECO:0000303;evid |
| Q8TER5 | 1414 | 1462 | 1415 | 1462 | Alternative sequence | ID=VSP_030383;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TER5 | 1414 | 1462 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1414 | 1462 | 1433 | 1433 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8TER5 | 1414 | 1462 | 1438 | 1438 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8TER5 | 1414 | 1462 | 1418 | 1418 | Natural variant | ID=VAR_060541;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17855344,PMID:15489334 |
| 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 |
| Q8TER5 | 639 | 678 | 1 | 714 | Alternative sequence | ID=VSP_030381;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TER5 | 639 | 678 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 832 | 880 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 832 | 880 | 828 | 871 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TER5 | 1191 | 1263 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1191 | 1263 | 1085 | 1253 | Domain | Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062 |
| Q8TER5 | 1379 | 1414 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1414 | 1462 | 1415 | 1519 | Alternative sequence | ID=VSP_030382;Note=In isoform 3. AARTRASVAVSSFEHAGPSLPGLSPGACSLPARVEEEAWDLDVKQISLAPETLDSSGDVSPGPRNSPSLQPPHPGSSTPTLASRGILGLSRQSHARALSDPTTPL->GEGQGAGGWPPGVKTLTMRIQRGGMVESQERHLVPKSVGLAGRPSVRLRVIPGSQEGFPTPAPHPPLPTLCSRPHPGLRGRVIL;Ontology_term=ECO:0000303;evid |
| Q8TER5 | 1414 | 1462 | 1415 | 1462 | Alternative sequence | ID=VSP_030383;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TER5 | 1414 | 1462 | 1 | 1519 | Chain | ID=PRO_0000314822;Note=Rho guanine nucleotide exchange factor 40 |
| Q8TER5 | 1414 | 1462 | 1433 | 1433 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8TER5 | 1414 | 1462 | 1438 | 1438 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q8TER5 | 1414 | 1462 | 1418 | 1418 | Natural variant | ID=VAR_060541;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17855344,PMID:15489334 |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21542091 | 21543339 | 21542895 | 21542895 | Frame_Shift_Del | C | - | p.P337fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21542091 | 21543150 | 21542895 | 21542895 | Frame_Shift_Del | C | - | p.P337fs |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21542091 | 21543339 | 21542978 | 21542978 | Frame_Shift_Del | G | - | p.Q363fs |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21542091 | 21543150 | 21542978 | 21542978 | Frame_Shift_Del | G | - | p.Q363fs |
| RKO_LARGE_INTESTINE | 21546532 | 21546647 | 21546604 | 21546604 | Frame_Shift_Del | G | - | p.G736fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21546532 | 21546647 | 21546604 | 21546604 | Frame_Shift_Del | G | - | p.G736fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21546532 | 21546647 | 21546604 | 21546604 | Frame_Shift_Del | G | - | p.G736fs |
| RERFLCKJ_LUNG | 21555160 | 21555622 | 21555580 | 21555582 | In_Frame_Del | GAG | - | p.E1451del |
| RERFLCKJ_LUNG | 21555479 | 21555622 | 21555580 | 21555582 | In_Frame_Del | GAG | - | p.E1451del |
| YH13_CENTRAL_NERVOUS_SYSTEM | 21541204 | 21541401 | 21541243 | 21541243 | Missense_Mutation | G | A | p.A15T |
| LNCAPCLONEFGC_PROSTATE | 21541204 | 21541401 | 21541328 | 21541328 | Missense_Mutation | A | G | p.D43G |
| SNU407_LARGE_INTESTINE | 21541204 | 21541401 | 21541345 | 21541345 | Missense_Mutation | C | A | p.L49M |
| LOXIMVI_SKIN | 21542091 | 21543339 | 21542104 | 21542104 | Missense_Mutation | G | C | p.G72A |
| LOXIMVI_SKIN | 21542091 | 21543150 | 21542104 | 21542104 | Missense_Mutation | G | C | p.G72A |
| RMUGS_OVARY | 21542091 | 21543339 | 21542154 | 21542154 | Missense_Mutation | G | C | p.V89L |
| RMUGS_OVARY | 21542091 | 21543150 | 21542154 | 21542154 | Missense_Mutation | G | C | p.V89L |
| FU97_STOMACH | 21542091 | 21543339 | 21542280 | 21542280 | Missense_Mutation | G | A | p.V131M |
| FU97_STOMACH | 21542091 | 21543150 | 21542280 | 21542280 | Missense_Mutation | G | A | p.V131M |
| NCIH1975_LUNG | 21542091 | 21543339 | 21542308 | 21542308 | Missense_Mutation | C | T | p.A140V |
| NCIH1975_LUNG | 21542091 | 21543150 | 21542308 | 21542308 | Missense_Mutation | C | T | p.A140V |
| LNCAPCLONEFGC_PROSTATE | 21542091 | 21543339 | 21542314 | 21542314 | Missense_Mutation | C | T | p.A142V |
| LNCAPCLONEFGC_PROSTATE | 21542091 | 21543150 | 21542314 | 21542314 | Missense_Mutation | C | T | p.A142V |
| HEC151_ENDOMETRIUM | 21542091 | 21543339 | 21542456 | 21542456 | Missense_Mutation | A | C | p.K189N |
| HEC151_ENDOMETRIUM | 21542091 | 21543150 | 21542456 | 21542456 | Missense_Mutation | A | C | p.K189N |
| HARA_LUNG | 21542091 | 21543339 | 21542497 | 21542497 | Missense_Mutation | C | G | p.P203R |
| HARA_LUNG | 21542091 | 21543150 | 21542497 | 21542497 | Missense_Mutation | C | G | p.P203R |
| SNU1040_LARGE_INTESTINE | 21542091 | 21543339 | 21542632 | 21542632 | Missense_Mutation | T | C | p.V248A |
| SNU1040_LARGE_INTESTINE | 21542091 | 21543150 | 21542632 | 21542632 | Missense_Mutation | T | C | p.V248A |
| HCC2450_LUNG | 21542091 | 21543339 | 21542654 | 21542654 | Missense_Mutation | C | A | p.S255R |
| HCC2450_LUNG | 21542091 | 21543150 | 21542654 | 21542654 | Missense_Mutation | C | A | p.S255R |
| KYSE270_OESOPHAGUS | 21542091 | 21543339 | 21542695 | 21542695 | Missense_Mutation | G | C | p.R269P |
| KYSE270_OESOPHAGUS | 21542091 | 21543150 | 21542695 | 21542695 | Missense_Mutation | G | C | p.R269P |
| RO82W1_THYROID | 21542091 | 21543339 | 21542835 | 21542835 | Missense_Mutation | C | T | p.P316S |
| RO82W1_THYROID | 21542091 | 21543150 | 21542835 | 21542835 | Missense_Mutation | C | T | p.P316S |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21542091 | 21543339 | 21543298 | 21543298 | Missense_Mutation | G | C | p.G470A |
| NCIH2196_LUNG | 21542091 | 21543339 | 21543321 | 21543321 | Missense_Mutation | G | A | p.G478S |
| 639V_URINARY_TRACT | 21542091 | 21543339 | 21543336 | 21543336 | Missense_Mutation | G | A | p.A483T |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21543782 | 21543924 | 21543816 | 21543816 | Missense_Mutation | A | T | p.Q544L |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21543804 | 21543924 | 21543816 | 21543816 | Missense_Mutation | A | T | p.Q544L |
| AN3CA_ENDOMETRIUM | 21543782 | 21543924 | 21543849 | 21543849 | Missense_Mutation | C | T | p.P555L |
| AN3CA_ENDOMETRIUM | 21543804 | 21543924 | 21543849 | 21543849 | Missense_Mutation | C | T | p.P555L |
| MCC13_SKIN | 21543782 | 21543924 | 21543902 | 21543902 | Missense_Mutation | C | T | p.H573Y |
| MCC13_SKIN | 21543804 | 21543924 | 21543902 | 21543902 | Missense_Mutation | C | T | p.H573Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 21544933 | 21545049 | 21544942 | 21544942 | Missense_Mutation | G | T | p.V643L |
| DOV13_OVARY | 21544933 | 21545049 | 21544955 | 21544955 | Missense_Mutation | A | G | p.N647S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 21544933 | 21545049 | 21544956 | 21544956 | Missense_Mutation | T | G | p.N647K |
| SNU81_LARGE_INTESTINE | 21544933 | 21545049 | 21544957 | 21544957 | Missense_Mutation | G | T | p.D648Y |
| HCT15_LARGE_INTESTINE | 21546532 | 21546647 | 21546592 | 21546592 | Missense_Mutation | C | G | p.L731V |
| EN_ENDOMETRIUM | 21546532 | 21546647 | 21546611 | 21546611 | Missense_Mutation | C | G | p.A737G |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21549032 | 21549175 | 21549055 | 21549055 | Missense_Mutation | G | T | p.E840D |
| SKMES1_LUNG | 21549032 | 21549175 | 21549144 | 21549144 | Missense_Mutation | G | T | p.R870L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21549032 | 21549175 | 21549162 | 21549162 | Missense_Mutation | G | A | p.R876H |
| TGBC11TKB_STOMACH | 21551994 | 21552209 | 21552066 | 21552066 | Missense_Mutation | C | T | p.R1216W |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21551994 | 21552209 | 21552121 | 21552121 | Missense_Mutation | G | A | p.R1234Q |
| HCC1438_LUNG | 21551994 | 21552209 | 21552121 | 21552121 | Missense_Mutation | G | T | p.R1234L |
| HS746T_STOMACH | 21551994 | 21552209 | 21552165 | 21552165 | Missense_Mutation | C | T | p.R1249C |
| FTC133_THYROID | 21551994 | 21552209 | 21552169 | 21552169 | Missense_Mutation | G | T | p.G1250V |
| HCC2450_LUNG | 21551994 | 21552209 | 21552172 | 21552172 | Missense_Mutation | G | C | p.R1251T |
| TT2609C02_THYROID | 21551994 | 21552209 | 21552193 | 21552193 | Missense_Mutation | C | T | p.A1258V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21555160 | 21555264 | 21555203 | 21555203 | Missense_Mutation | A | C | p.K1394N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21555160 | 21555622 | 21555203 | 21555203 | Missense_Mutation | A | C | p.K1394N |
| PL18_PANCREAS | 21555160 | 21555264 | 21555204 | 21555204 | Missense_Mutation | C | G | p.P1395A |
| PL18_PANCREAS | 21555160 | 21555622 | 21555204 | 21555204 | Missense_Mutation | C | G | p.P1395A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21555160 | 21555264 | 21555247 | 21555247 | Missense_Mutation | C | T | p.A1409V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21555160 | 21555622 | 21555247 | 21555247 | Missense_Mutation | C | T | p.A1409V |
| HEC1A_ENDOMETRIUM | 21542091 | 21543339 | 21543285 | 21543285 | Nonsense_Mutation | G | T | p.E466* |
| SNU349_KIDNEY | 21544933 | 21545049 | 21545034 | 21545034 | Nonsense_Mutation | G | A | p.W673* |