Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_126373 | 15 | 42707937:42709558:42710002:42710149:42713258:42713330 | 42710002:42710149 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565611.1,ENST00000565500.1,ENST00000565380.1 |
exon_skip_126375 | 15 | 42714750:42714818:42716195:42716258:42717031:42717223 | 42716195:42716258 | ENSG00000103994.12 | ENST00000263805.4,ENST00000570078.1,ENST00000565611.1,ENST00000565500.1,ENST00000569648.1,ENST00000565380.1 |
exon_skip_126376 | 15 | 42717031:42717223:42720215:42720332:42727581:42727716 | 42720215:42720332 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565611.1,ENST00000565500.1,ENST00000565380.1 |
exon_skip_126377 | 15 | 42720215:42720332:42727581:42727716:42729429:42729575 | 42727581:42727716 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565611.1,ENST00000565500.1,ENST00000565380.1 |
exon_skip_126380 | 15 | 42731230:42731750:42734270:42734612:42736399:42736460 | 42734270:42734612 | ENSG00000103994.12 | ENST00000565500.1 |
exon_skip_126382 | 15 | 42731230:42732011:42734270:42734612:42736399:42736460 | 42734270:42734612 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565611.1,ENST00000565380.1 |
exon_skip_126383 | 15 | 42734270:42734612:42736399:42736460:42737024:42737179 | 42736399:42736460 | ENSG00000103994.12 | ENST00000263805.4,ENST00000567772.2,ENST00000565611.1,ENST00000565500.1,ENST00000565380.1 |
exon_skip_126385 | 15 | 42738823:42738856:42740269:42740903:42749414:42749711 | 42740269:42740903 | ENSG00000103994.12 | ENST00000565611.1 |
exon_skip_126386 | 15 | 42738823:42738856:42740269:42740903:42758250:42758312 | 42740269:42740903 | ENSG00000103994.12 | ENST00000565380.1 |
exon_skip_126390 | 15 | 42740269:42740903:42741968:42744152:42749414:42749711 | 42741968:42744152 | ENSG00000103994.12 | ENST00000565948.1 |
exon_skip_126396 | 15 | 42740269:42740903:42758250:42758312:42764433:42764519 | 42758250:42758312 | ENSG00000103994.12 | ENST00000565380.1 |
exon_skip_126400 | 15 | 42743864:42744152:42749155:42749356:42758250:42758312 | 42749155:42749356 | ENSG00000103994.12 | ENST00000567041.1,ENST00000564754.1 |
exon_skip_126401 | 15 | 42749155:42749356:42758250:42758312:42764433:42764519 | 42758250:42758312 | ENSG00000103994.12 | ENST00000567041.1,ENST00000564754.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_126373 | 15 | 42707937:42709558:42710002:42710149:42713258:42713330 | 42710002:42710149 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565500.1,ENST00000565611.1 |
exon_skip_126375 | 15 | 42714750:42714818:42716195:42716258:42717031:42717223 | 42716195:42716258 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565500.1,ENST00000569648.1,ENST00000565611.1,ENST00000570078.1 |
exon_skip_126376 | 15 | 42717031:42717223:42720215:42720332:42727581:42727716 | 42720215:42720332 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565500.1,ENST00000565611.1 |
exon_skip_126377 | 15 | 42720215:42720332:42727581:42727716:42729429:42729575 | 42727581:42727716 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565500.1,ENST00000565611.1 |
exon_skip_126380 | 15 | 42731230:42731750:42734270:42734612:42736399:42736460 | 42734270:42734612 | ENSG00000103994.12 | ENST00000565500.1 |
exon_skip_126382 | 15 | 42731230:42732011:42734270:42734612:42736399:42736460 | 42734270:42734612 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565611.1 |
exon_skip_126383 | 15 | 42734270:42734612:42736399:42736460:42737024:42737179 | 42736399:42736460 | ENSG00000103994.12 | ENST00000263805.4,ENST00000565380.1,ENST00000565500.1,ENST00000565611.1,ENST00000567772.2 |
exon_skip_126385 | 15 | 42738823:42738856:42740269:42740903:42749414:42749711 | 42740269:42740903 | ENSG00000103994.12 | ENST00000565611.1 |
exon_skip_126386 | 15 | 42738823:42738856:42740269:42740903:42758250:42758312 | 42740269:42740903 | ENSG00000103994.12 | ENST00000565380.1 |
exon_skip_126390 | 15 | 42740269:42740903:42741968:42744152:42749414:42749711 | 42741968:42744152 | ENSG00000103994.12 | ENST00000565948.1 |
exon_skip_126396 | 15 | 42740269:42740903:42758250:42758312:42764433:42764519 | 42758250:42758312 | ENSG00000103994.12 | ENST00000565380.1 |
exon_skip_126400 | 15 | 42743864:42744152:42749155:42749356:42758250:42758312 | 42749155:42749356 | ENSG00000103994.12 | ENST00000564754.1,ENST00000567041.1 |
exon_skip_126401 | 15 | 42749155:42749356:42758250:42758312:42764433:42764519 | 42758250:42758312 | ENSG00000103994.12 | ENST00000564754.1,ENST00000567041.1 |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42741996 | 42741996 | Frame_Shift_Del | T | - | p.K802fs |
RKO_LARGE_INTESTINE | 42741969 | 42744152 | 42742679 | 42742679 | Frame_Shift_Del | T | - | p.K574fs |
22RV1_PROSTATE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
C33A_CERVIX | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
PACADD137_PANCREAS | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
DV90_LUNG | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
HEC151_ENDOMETRIUM | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
HEC6_ENDOMETRIUM | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
MDAPCA2B_PROSTATE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
CL34_LARGE_INTESTINE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
HCC1569_BREAST | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
HCT116_LARGE_INTESTINE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
IGROV1_OVARY | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
KM12_LARGE_INTESTINE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
LOVO_LARGE_INTESTINE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
NUGC3_STOMACH | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
RCCFG2_KIDNEY | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
SNU407_LARGE_INTESTINE | 42741969 | 42744152 | 42742957 | 42742957 | Frame_Shift_Del | A | - | p.S482fs |
HEC108_ENDOMETRIUM | 42741969 | 42744152 | 42742977 | 42742977 | Frame_Shift_Del | T | - | p.N475fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 42749156 | 42749356 | 42749209 | 42749210 | Frame_Shift_Del | AT | - | p.D65fs |
S117_SOFT_TISSUE | 42749156 | 42749356 | 42749209 | 42749210 | Frame_Shift_Del | AT | - | p.D65fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 42749156 | 42749356 | 42749212 | 42749212 | Frame_Shift_Del | T | - | p.E64fs |
S117_SOFT_TISSUE | 42749156 | 42749356 | 42749212 | 42749212 | Frame_Shift_Del | T | - | p.E64fs |
RKO_LARGE_INTESTINE | 42749156 | 42749356 | 42749210 | 42749212 | In_Frame_Del | TCT | - | p.E64del |
PL4_PANCREAS | 42710003 | 42710149 | 42710022 | 42710022 | Missense_Mutation | G | A | p.A1859V |
NBTU110_AUTONOMIC_GANGLIA | 42710003 | 42710149 | 42710038 | 42710038 | Missense_Mutation | C | T | p.D1854N |
NCIH2004RT_SOFT_TISSUE | 42710003 | 42710149 | 42710053 | 42710053 | Missense_Mutation | G | A | p.R1849C |
KG1C_CENTRAL_NERVOUS_SYSTEM | 42716196 | 42716258 | 42716243 | 42716243 | Missense_Mutation | C | T | p.V1713M |
LN235_CENTRAL_NERVOUS_SYSTEM | 42720216 | 42720332 | 42720295 | 42720295 | Missense_Mutation | C | T | p.R1617Q |
JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42727582 | 42727716 | 42727701 | 42727701 | Missense_Mutation | C | T | p.G1565S |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42727582 | 42727716 | 42727712 | 42727712 | Missense_Mutation | C | T | p.R1561Q |
LS180_LARGE_INTESTINE | 42734271 | 42734612 | 42734426 | 42734426 | Missense_Mutation | G | A | p.T1180M |
PEDS005TPFAD_KIDNEY | 42734271 | 42734612 | 42734529 | 42734529 | Missense_Mutation | T | C | p.I1146V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 42734271 | 42734612 | 42734598 | 42734598 | Missense_Mutation | A | G | p.S1123P |
EN_ENDOMETRIUM | 42736400 | 42736460 | 42736432 | 42736432 | Missense_Mutation | G | T | p.T1107N |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42740270 | 42740903 | 42740283 | 42740283 | Missense_Mutation | C | T | p.R1018Q |
HCC1359_LUNG | 42740270 | 42740903 | 42740413 | 42740413 | Missense_Mutation | C | G | p.G975R |
NCIH513_PLEURA | 42740270 | 42740903 | 42740694 | 42740694 | Missense_Mutation | C | G | p.G881A |
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42740270 | 42740903 | 42740763 | 42740763 | Missense_Mutation | C | T | p.R858Q |
MFE319_ENDOMETRIUM | 42740270 | 42740903 | 42740809 | 42740809 | Missense_Mutation | A | G | p.W843R |
HEC151_ENDOMETRIUM | 42741969 | 42744152 | 42742102 | 42742102 | Missense_Mutation | C | T | p.E767K |
SW48_LARGE_INTESTINE | 42741969 | 42744152 | 42742117 | 42742117 | Missense_Mutation | C | T | p.G762S |
TTC549_SOFT_TISSUE | 42741969 | 42744152 | 42742118 | 42742118 | Missense_Mutation | G | T | p.S761R |
HS274T_BREAST | 42741969 | 42744152 | 42742118 | 42742118 | Missense_Mutation | G | T | p.S761R |
A498_KIDNEY | 42741969 | 42744152 | 42742118 | 42742118 | Missense_Mutation | G | T | p.S761R |
SNU1040_LARGE_INTESTINE | 42741969 | 42744152 | 42742128 | 42742128 | Missense_Mutation | C | T | p.R758H |
HEC108_ENDOMETRIUM | 42741969 | 42744152 | 42742147 | 42742147 | Missense_Mutation | T | C | p.N752D |
SNU1_STOMACH | 42741969 | 42744152 | 42742200 | 42742200 | Missense_Mutation | C | T | p.R734Q |
NCIH23_LUNG | 42741969 | 42744152 | 42742263 | 42742263 | Missense_Mutation | C | T | p.G713D |
D245MG_CENTRAL_NERVOUS_SYSTEM | 42741969 | 42744152 | 42742263 | 42742263 | Missense_Mutation | C | T | p.G713D |
HCC364_LUNG | 42741969 | 42744152 | 42742266 | 42742266 | Missense_Mutation | G | A | p.S712L |
ISTMEL1_SKIN | 42741969 | 42744152 | 42742297 | 42742297 | Missense_Mutation | C | G | p.E702Q |
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742419 | 42742419 | Missense_Mutation | C | T | p.S661N |
SNU1272_KIDNEY | 42741969 | 42744152 | 42742458 | 42742458 | Missense_Mutation | C | T | p.R648H |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742458 | 42742458 | Missense_Mutation | C | T | p.R648H |
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742485 | 42742485 | Missense_Mutation | G | C | p.S639C |
PEDS015T_SOFT_TISSUE | 42741969 | 42744152 | 42742512 | 42742512 | Missense_Mutation | C | T | p.R630H |
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742512 | 42742512 | Missense_Mutation | C | T | p.R630H |
JHU011_UPPER_AERODIGESTIVE_TRACT | 42741969 | 42744152 | 42742579 | 42742579 | Missense_Mutation | C | G | p.G608R |
CAL851_BREAST | 42741969 | 42744152 | 42742587 | 42742587 | Missense_Mutation | C | G | p.G605A |
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742608 | 42742608 | Missense_Mutation | T | C | p.E598G |
NCC021_KIDNEY | 42741969 | 42744152 | 42742707 | 42742707 | Missense_Mutation | G | T | p.A565E |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742722 | 42742722 | Missense_Mutation | C | A | p.R560M |
DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742734 | 42742734 | Missense_Mutation | G | A | p.S556F |
MDAMB415_BREAST | 42741969 | 42744152 | 42742804 | 42742804 | Missense_Mutation | C | T | p.D533N |
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742821 | 42742821 | Missense_Mutation | G | A | p.S527F |
RCM1_LARGE_INTESTINE | 42741969 | 42744152 | 42743055 | 42743055 | Missense_Mutation | G | A | p.S449L |
CAL148_BREAST | 42741969 | 42744152 | 42743260 | 42743260 | Missense_Mutation | C | G | p.D381H |
EN_ENDOMETRIUM | 42741969 | 42744152 | 42743347 | 42743347 | Missense_Mutation | A | G | p.Y352H |
GCT_SOFT_TISSUE | 42741969 | 42744152 | 42743482 | 42743482 | Missense_Mutation | G | A | p.P307S |
HEC151_ENDOMETRIUM | 42741969 | 42744152 | 42743527 | 42743527 | Missense_Mutation | C | T | p.A292T |
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42743577 | 42743577 | Missense_Mutation | T | G | p.H275P |
IGROV1_OVARY | 42741969 | 42744152 | 42743713 | 42743713 | Missense_Mutation | G | A | p.R230C |
NCIH1930_LUNG | 42741969 | 42744152 | 42743734 | 42743734 | Missense_Mutation | C | T | p.G223R |
BFTC909_KIDNEY | 42741969 | 42744152 | 42743734 | 42743734 | Missense_Mutation | C | T | p.G223R |
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42743752 | 42743752 | Missense_Mutation | G | A | p.H217Y |
NCIH810_LUNG | 42741969 | 42744152 | 42743805 | 42743805 | Missense_Mutation | G | A | p.T199I |
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42743841 | 42743841 | Missense_Mutation | G | A | p.S187L |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42743899 | 42743899 | Missense_Mutation | C | T | p.A168T |
RERFLCKJ_LUNG | 42741969 | 42744152 | 42743925 | 42743925 | Missense_Mutation | C | A | p.G159V |
MCC13_SKIN | 42741969 | 42744152 | 42743935 | 42743935 | Missense_Mutation | C | T | p.G156R |
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42743937 | 42743937 | Missense_Mutation | C | T | p.G155D |
IPC298_SKIN | 42741969 | 42744152 | 42743952 | 42743952 | Missense_Mutation | G | A | p.S150F |
SW48_LARGE_INTESTINE | 42741969 | 42744152 | 42743956 | 42743956 | Missense_Mutation | G | A | p.H149Y |
RT112_URINARY_TRACT | 42741969 | 42744152 | 42744100 | 42744100 | Missense_Mutation | G | A | p.P101S |
CW2_LARGE_INTESTINE | 42749156 | 42749356 | 42749220 | 42749220 | Missense_Mutation | C | T | p.E62K |
HCT116_LARGE_INTESTINE | 42749156 | 42749356 | 42749255 | 42749255 | Missense_Mutation | G | A | p.A50V |
SNU886_LIVER | 42749156 | 42749356 | 42749267 | 42749267 | Missense_Mutation | T | C | p.D46G |
NCIH2135_LUNG | 42749156 | 42749356 | 42749282 | 42749282 | Missense_Mutation | C | T | p.G41D |
BICR18_UPPER_AERODIGESTIVE_TRACT | 42749156 | 42749356 | 42749328 | 42749328 | Missense_Mutation | C | G | p.G26R |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42749156 | 42749356 | 42749328 | 42749328 | Missense_Mutation | C | G | p.G26R |
S117_SOFT_TISSUE | 42749156 | 42749356 | 42749328 | 42749328 | Missense_Mutation | C | G | p.G26R |
A2058_SKIN | 42710003 | 42710149 | 42710147 | 42710147 | Nonsense_Mutation | C | T | p.W1817* |
HEC59_ENDOMETRIUM | 42720216 | 42720332 | 42720269 | 42720269 | Nonsense_Mutation | G | A | p.R1626* |
OELE_OVARY | 42740270 | 42740903 | 42740698 | 42740698 | Nonsense_Mutation | C | A | p.E880* |
SBC5_LUNG | 42740270 | 42740903 | 42740866 | 42740866 | Nonsense_Mutation | G | A | p.Q824* |
ESS1_ENDOMETRIUM | 42741969 | 42744152 | 42742450 | 42742450 | Nonsense_Mutation | C | A | p.E651* |
JHUEM7_ENDOMETRIUM | 42741969 | 42744152 | 42742690 | 42742690 | Nonsense_Mutation | C | A | p.E571* |
JHUEM7_ENDOMETRIUM | 42741969 | 42744152 | 42742693 | 42742693 | Nonsense_Mutation | C | A | p.E570* |
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42741969 | 42744152 | 42742983 | 42742983 | Nonsense_Mutation | G | C | p.S473* |
TE4_OESOPHAGUS | 42741969 | 42744152 | 42743880 | 42743880 | Nonsense_Mutation | C | T | p.W174* |
HCC2450_LUNG | 42741969 | 42744152 | 42744004 | 42744004 | Nonsense_Mutation | T | A | p.K133* |
HCC2998_LARGE_INTESTINE | 42749156 | 42749356 | 42749206 | 42749206 | Nonsense_Mutation | A | T | p.Y66* |
A2058_SKIN | 42710003 | 42710149 | 42710148 | 42710148 | Splice_Site | C | T | p.W1817* |
GEO_LARGE_INTESTINE | 42727582 | 42727716 | 42727582 | 42727582 | Splice_Site | C | G | p.K1604N |
HEC251_ENDOMETRIUM | 42749156 | 42749356 | 42749157 | 42749157 | Splice_Site | G | A | p.R83* |