MutSpliceDB: a database of Splice Sites Variants
Gene Symbol | Entrez Gene ID | Mutation | Allele registry ID | Splicing effect | RNA-seq evidence |
---|---|---|---|---|---|
TP53 | 7157 | NM_000546.5:c.375+5G>A | CA645589233 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
RB1 | 5925 | NM_000321.2:c.2211+5G>T | CA658760346 | Exon 21 skipping | BAM file(s) page |
RB1 | 5925 | NM_000321.2:c.1389+5G>C | CA658655602 | Exon 14 skipping | BAM file(s) page |
APC | 324 | NM_001127511.2:c.250+2T>C | CA360617468 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
ARID1A | 8289 | NM_006015.4:c.4101+1G>T | CA339172557 | Intron inclusion between exons 17 & 18 | BAM file(s) page |
ARID1B | 57492 | NM_020732.3:c.3025G>T | CA366389648 | Intron inclusion between exons 10 & 11, or exon 10 skipping | BAM file(s) page |
ATM | 472 | NM_000051.3:c.2922-2A>T | CA382547055 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
BRCA1 | 672 | NM_007297.3:c.5266-2A>G | CA003572 | Intron inclusion between exons 20 & 21 | BAM file(s) page |
BRCA1 | 672 | NM_007297.3:c.5136+1G>A | CA003419 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
CDKN1B | 1027 | NM_004064.4:c.475+1G>A | CA383971039 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.457+2T>C | CA373085801 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.457+1G>T | CA373085804 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.457+1G>A | CA373085806 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.151-1G>T | CA16618833 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.151-1G>A | CA373086462 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.151-2A>C | CA373086465 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CDKN2C | 1031 | NM_001262.2:c.129+1G>T | CA340560868 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
FANCA | 2175 | NM_000135.2:c.709+2T>C | CA397477632 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
MSH2 | 4436 | NM_000251.2:c.1276+1G>A | CA017744 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
MSH2 | 4436 | NM_000251.2:c.2211-1G>A | CA346729646 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
NF1 | 4763 | NM_000267.3:c.1641+1G>A | CA399002191 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
NF1 | 4763 | NM_000267.3:c.4269+2T>C | CA334574 | Intron inclusion between exons 31 & 32 | BAM file(s) page |
NF2 | 4771 | NM_000268.3:c.363+1G>A | CA411153403 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
PALB2 | 79728 | NM_024675.3:c.2514+2T>C | CA395123908 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
PMS2 | 5395 | NM_000535.5:c.2174+1G>A | CA010965 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
POLD1 | 5424 | NM_002691.3:c.2389-2A>T | CA406984490 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
PTCH1 | 5727 | NM_000264.3:c.2561-1G>A | CA374113600 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
PTEN | 5728 | NM_000314.6:c.635-2A>C | CA377484744 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
PTEN | 5728 | NM_000314.6:c.1026+1G>T | CA377486187 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | BAM file(s) page |
PTEN | 5728 | NM_000314.6:c.1027-2A>T | CA377487089 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
SMARCA4 | 6597 | NM_001128844.1:c.2617-1G>A | CA404055473 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
SMARCA4 | 6597 | NM_001128844.1:c.3952-1G>C | CA404067977 | Intron inclusion between exons 29 & 30 | BAM file(s) page |
SMARCB1 | 6598 | NM_003073.3:c.362+1G>C | CA410934142 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
SMARCC1 | 6599 | NM_003074.3:c.2376+2T>C | CA352574504 | Intron inclusion between exons 22 & 23 | BAM file(s) page |
SMARCB1 | 6598 | NM_003073.3:c.500+1G>A | CA410934606 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.1101-2A>C | CA397830927 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.994-1G>A | CA000528 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.994-1G>C | CA10580906 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.994-2A>G | CA287485766 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.993+2T>G | CA397835626 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.993+1G>T | CA287486498 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.993+1G>A | CA397835645 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.920-1G>A | CA000499 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.919+1G>T | CA397836242 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.919+1G>C | CA397836244 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.783-1G>T | CA397837291 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.783-2A>T | CA397837307 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.783-2A>C | CA397837324 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.782+1G>T | CA397837531 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.782G>C | CA000415 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.673-1G>A | CA16607882 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.673-2A>G | CA397839547 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.673-2A>C | CA397839549 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.673-2A>T | CA397839553 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.672+2T>G | CA397839766 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.672+1G>A | CA339249 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.672+1G>T | CA397839769 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.672G>A | CA000328 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.672G>T | CA397839776 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.560-1G>A | CA397840949 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.559+2T>A | CA397841056 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.559+1G>A | CA397841068 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.559G>C | CA397841073 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.376-1G>A | CA287488727 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.376-2A>G | CA000146 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375+2T>G | CA397844129 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375+2T>C | CA397844132 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375+1G>A | CA397844139 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.376-2A>T | CA397843977 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375+1G>T | CA397844143 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375G>A | CA000144 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.375G>T | CA10575452 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.374C>T | CA000140 | Does not affect splicing | BAM file(s) page |
TSC1 | 7248 | NM_000368.4:c.508+1G>T | CA375373089 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
VHL | 7428 | NM_000551.3:c.340+2T>C | CA351751382 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
VHL | 7428 | NM_000551.3:c.463+2T>C | CA16621936 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
CDKN1A | 1026 | NM_000389.4:c.446-3C>G | CA913203373 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
PTEN | 5728 | NM_000314.5:c.635-3C>G | CA645294060 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TSC2 | 7249 | NM_000548.3:c.3285-3C>G | CA913203375 | Intron inclusion between exons 28 & 29 | BAM file(s) page |
PTEN | 5728 | NM_000314.5:c.635-3C>A | CA913203442 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TSC1 | 7248 | NM_000368.4:c.1263+4C>T | CA658657921 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
MET | 4233 | NM_000245.2:c.3028+1G>T | CA358887 | Exon 14 skipping | BAM file(s) page |
MET | 4233 | NM_000245.2:c.3028+2T>C | CA368987540 | Exon 14 skipping | BAM file(s) page |
MET | 4233 | NM_000245.2:c.3028+1G>A | CA368987532 | Exon 14 skipping | BAM file(s) page |
MET | 4233 | NM_000245.2:c.3028+2T>G | CA368987541 | Exon 14 skipping | BAM file(s) page |
MET | 4233 | NM_000245.2:c.3028+1G>C | CA368987534 | Exon 14 skipping | BAM file(s) page |
TP53 | 7157 | NM_000546.5:c.782+2T>G | CA10580920 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
PTEN | 5728 | NM_000314.7:c.1026+1G>A | CA000103 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | BAM file(s) page |
PTEN | 5728 | NM_000314.7:c.1026+2T>G | CA377486192 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | BAM file(s) page |
CDKN2A | 1029 | NM_000077.4:c.458-1G>A | CA373085086 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.783-1G>A | CA397837303 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
NF1 | 4763 | NM_001042492.3:c.1392+1G>T | CA398999963 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.993+1G>C | CA16607519 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.782+1G>A | CA10575449 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.994-2A>C | CA397832988 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.5:c.150+1G>T | CA373086473 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.5:c.151-2A>T | CA373086463 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
MSH2 | 4436 | NM_000251.3:c.1276+2T>C | CA027509 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
TSC2 | 7249 | NM_000548.5:c.3132-1G>C | CA018622 | Intron inclusion between exons 27 & 28 | BAM file(s) page |
TSC2 | 7249 | NM_000548.5:c.3610+1G>C | CA394289761 | Intron inclusion between exons 30 & 31 | BAM file(s) page |
NF1 | 4763 | NM_001042492.3:c.7615+1G>A | CA399017902 | Intron inclusion between exons 51 & 52 | BAM file(s) page |
VHL | 7428 | NM_000551.4:c.464-2A>G | CA357046 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.919+2T>G | CA397836235 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.210-2A>G | CA377481223 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.1101-2A>G | CA000038 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.75-2A>G | CA397848502 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.75-1G>T | CA397848485 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.920-2A>G | CA000500 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.993+2T>C | CA397835629 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
CDKN1B | 1027 | NM_004064.5:c.476-1G>C | CA383972469 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.801+1G>T | CA377485117 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
NF1 | 4763 | NM_001042492.3:c.7063-1G>A | CA399015496 | Intron inclusion between exons 47 & 48 | BAM file(s) page |
TSC2 | 7249 | NM_000548.5:c.1716+1G>T | CA394270767 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.560-2A>C | CA397840962 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
RB1 | 5925 | NM_000321.3:c.2325+1G>A | CA388167737 | Intron inclusion between exons 22 & 23 | BAM file(s) page |
TSC2 | 7249 | NM_000548.5:c.1119+2T>C | CA394318502 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.672+2T>C | CA397839763 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
BRCA1 | 672 | NM_007294.4:c.5073A>C | CA500146299 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.919+1G>A | CA397836247 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
PTEN | 5728 | NM_000314.6:c.1026+1G>C | CA000253 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | BAM file(s) page |
RB1 | 5925 | NM_000321.3:c.2489+1G>C | CA10605763 | Intron inclusion between exons 23 & 24 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.376-1G>T | CA397843969 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.559+1G>T | CA397841061 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | BAM file(s) page |
TSC2 | 7249 | NM_000548.5:c.1946+2T>C | CA016272 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.994-2A>T | CA397832984 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.672+2T>A | CA397839761 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.673-1G>C | CA397839543 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.673-1G>T | CA10583677 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.994-1G>T | CA397832981 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
CDKN2A | 1029 | NM_000077.5:c.151-2A>G | CA373086464 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.635-1G>C | CA10577419 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.1101-2A>T | CA397830922 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
RB1 | 5925 | NM_000321.3:c.1814+2T>A | CA388165677 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.96+1G>A | CA397848261 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.920-1G>T | CA397836174 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
VHL | 7428 | NM_000551.4:c.464-1G>C | CA357081 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
NF2 | 4771 | NM_000268.4:c.1575-1G>A | CA411149982 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.492+1G>A | CA377482838 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.493-2A>G | CA000478 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
RB1 | 5925 | NM_000321.3:c.1215+1G>T | CA388161720 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
TSC1 | 7248 | NM_000368.4:c.1264-1G>A | CA375366235 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.376-2A>C | CA397843982 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.97-1G>A | CA397848094 | Intron inclusion between exons 3 & 4, or skipping beginning of exon 4 | BAM file(s) page |
CDH1 | 999 | NM_004360.5:c.1565+1G>A | CA288040 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
RUNX1 | 861 | NM_001754.5:c.508+1G>C | CA410202462 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
KEAP1 | 9817 | NM_203500.2:c.1708+1G>T | CA403983764 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.4101+1G>A | CA339172553 | Intron inclusion between exons 17 & 18 | BAM file(s) page |
ARID2 | 196528 | NM_152641.4:c.5364-1G>C | CA384452312 | Intron inclusion between exons 20 & 21 | BAM file(s) page |
KEAP1 | 9817 | NM_203500.2:c.1709-1G>T | CA403982510 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
KMT2D | 8085 | NM_003482.4:c.16521+1G>T | CA384675602 | Intron inclusion between exons 53 & 54 | BAM file(s) page |
PIK3R1 | 5295 | NM_181523.3:c.1300-2A>G | CA359880031 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
SETD2 | 29072 | NM_014159.7:c.4715+1G>C | CA352515763 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
ATRX | 546 | NM_000489.6:c.4557+2T>G | CA413707632 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
KEAP1 | 9817 | NM_203500.2:c.1709-2A>C | CA403982536 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
SMARCA4 | 6597 | NM_003072.5:c.2438+1G>T | CA404053370 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.4101+1G>C | CA339172554 | Intron inclusion between exons 17 & 18 | BAM file(s) page |
KMT2C | 58508 | NM_170606.3:c.9750+1G>A | CA370106459 | Intron inclusion between exons 42 & 43 | BAM file(s) page |
SMARCA4 | 6597 | NM_003072.5:c.4171-2A>G | CA404072660 | Intron inclusion between exons 29 & 30 | BAM file(s) page |
BCOR | 54880 | NM_001123385.2:c.4173+2T>C | CA412736320 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
RECQL4 | 9401 | NM_004260.4:c.2201-2A>T | CA372679488 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
KEAP1 | 9817 | NM_203500.2:c.1708+2T>A | CA403983744 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
STK11 | 6794 | NM_000455.5:c.291-1G>T | CA402947616 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
CTCF | 10664 | NM_006565.4:c.1999+1G>T | CA396324431 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
ACTB | 60 | NM_001101.5:c.803-2A>T | CA366700889 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
XPC | 7508 | NM_004628.5:c.1872+2T>C | CA351538844 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
PPP2R1A | 5518 | NM_014225.6:c.78+2T>C | CA407178686 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
SMARCA4 | 6597 | NM_003072.5:c.3547-2A>G | CA404065045 | Intron inclusion between exons 25 & 26 | BAM file(s) page |
PIK3R1 | 5295 | NM_181523.3:c.1746-1G>C | CA359883176 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
KLF6 | 1316 | NM_001300.6:c.677-2A>G | CA375872940 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TGFBR2 | 7048 | NM_003242.6:c.1254+2T>G | CA351808864 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
KDM6A | 7403 | NM_001291415.2:c.4332+1G>A | CA412777763 | Intron inclusion between exons 29 & 30 | BAM file(s) page |
CBL | 867 | NM_005188.4:c.1096-1G>C | CA135696 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.1803+1G>C | CA339268869 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
ASXL1 | 171023 | NM_015338.6:c.1720-1G>T | CA408557737 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ATRX | 546 | NM_000489.6:c.4809+2T>G | CA413704915 | Intron inclusion between exons 17 & 18 | BAM file(s) page |
TGFBR2 | 7048 | NM_003242.6:c.1396+1G>A | CA046428 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
DDB2 | 1643 | NM_000107.3:c.1235-1G>A | CA380298564 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.4994-2A>T | CA339181382 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.3539+1G>A | CA339166598 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
STK11 | 6794 | NM_000455.5:c.735-1G>T | CA402950309 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
STK11 | 6794 | NM_000455.5:c.863-2A>T | CA402951137 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
CDH1 | 999 | NM_004360.5:c.1936+1G>T | CA396467291 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
CDH1 | 999 | NM_004360.5:c.1936+1G>A | CA396467289 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
EP300 | 2033 | NM_001429.4:c.4453-2A>G | CA411702416 | Intron inclusion between exons 27 & 28 | BAM file(s) page |
BAP1 | 8314 | NM_004656.4:c.1251-1G>C | CA353102566 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
CDC73 | 79577 | NM_024529.5:c.1316+1G>A | CA344078079 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
DNMT3A | 1788 | NM_022552.5:c.1668-1G>A | CA346072048 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
SETD2 | 29072 | NM_014159.7:c.4715+1G>A | CA352515764 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TP53BP1 | 7158 | NM_001141980.3:c.4100+1G>A | CA392158868 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
CTCF | 10664 | NM_006565.4:c.781+2T>G | CA396308597 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
PIK3R1 | 5295 | NM_181523.3:c.1299+2T>C | CA359880010 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
SPOP | 8405 | NM_001007228.2:c.79-1G>T | CA400157459 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
NBN | 4683 | NM_002485.5:c.1845+1G>A | CA371654960 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
SMARCE1 | 6605 | NM_003079.5:c.715-1G>A | CA399364518 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
BAP1 | 8314 | NM_004656.4:c.660-2A>G | CA353107671 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
MAP2K4 | 6416 | NM_003010.4:c.1087-1G>C | CA398242403 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
POLE | 5426 | NM_006231.4:c.331-2A>G | CA387368436 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
POLD1 | 5424 | NM_002691.4:c.2251-1G>T | CA406983918 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
CDH1 | 999 | NM_004360.5:c.687+1G>T | CA396458161 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
SPOP | 8405 | NM_001007228.2:c.79-1G>C | CA400157460 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
KMT2D | 8085 | NM_003482.4:c.14644-1G>A | CA384693632 | Intron inclusion between exons 47 & 48 | BAM file(s) page |
POLE | 5426 | NM_006231.4:c.3379-1G>T | CA387389561 | Intron inclusion between exons 27 & 28 | BAM file(s) page |
ATRX | 546 | NM_000489.6:c.663-2A>G | CA413720961 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
ATRX | 546 | NM_000489.6:c.4317+1G>A | CA413709172 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
KMT2D | 8085 | NM_003482.4:c.5645-1G>A | CA384629466 | Intron inclusion between exons 25 & 26 | BAM file(s) page |
CYLD | 1540 | NM_015247.3:c.2686+1G>A | CA395882698 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
SUFU | 51684 | NM_016169.4:c.1366-1G>A | CA377920366 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
DNMT3A | 1788 | NM_022552.5:c.1851+2T>C | CA1555858 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
FANCA | 2175 | NM_000135.4:c.3828+2T>A | CA397485122 | Intron inclusion between exons 38 & 39 | BAM file(s) page |
ARID1B | 57492 | NM_020732.3:c.4894+1G>T | CA366243331 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
WT1 | 7490 | NM_024426.6:c.887+2T>C | CA379962760 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
PIK3R1 | 5295 | NM_181523.3:c.1425+1G>A | CA16042620 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
KMT2D | 8085 | NM_003482.4:c.5783-1G>C | CA384628522 | Intron inclusion between exons 26 & 27 | BAM file(s) page |
SDHA | 6389 | NM_004168.4:c.1064+1G>A | CA359013037 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TP53BP1 | 7158 | NM_001141980.3:c.5306-2A>G | CA392147617 | Intron inclusion between exons 24 & 25 | BAM file(s) page |
KDM6A | 7403 | NM_001291415.2:c.4332+1G>C | CA412777765 | Intron inclusion between exons 29 & 30 | BAM file(s) page |
ATRX | 546 | NM_000489.6:c.4700-1G>C | CA413705515 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
KMT2D | 8085 | NM_003482.4:c.14383-1G>A | CA384695526 | Intron inclusion between exons 45 & 46 | BAM file(s) page |
CREBBP | 1387 | NM_004380.3:c.4395-2A>T | CA394564056 | Intron inclusion between exons 26 & 27 | BAM file(s) page |
SMAD4 | 4089 | NM_005359.6:c.1447+2T>C | CA16616086 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
KDM6A | 7403 | NM_001291415.2:c.4035-1G>A | CA412774219 | Intron inclusion between exons 27 & 28 | BAM file(s) page |
BRIP1 | 83990 | NM_032043.3:c.379+2T>G | CA400485254 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
MEN1 | 4221 | NM_001370259.2:c.784-1G>T | CA381184024 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
RAD51B | 5890 | NM_133510.4:c.452+2T>C | CA390170639 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
DNMT3A | 1788 | NM_022552.5:c.2478+2T>G | CA346068876 | Intron inclusion between exons 21 & 22 | BAM file(s) page |
PTCH1 | 5727 | NM_000264.5:c.2703+1G>C | CA374113274 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
ERCC2 | 2068 | NM_000400.4:c.1758+1G>A | CA9513120 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
KLF6 | 1316 | NM_001300.6:c.103-1G>C | CA375870696 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
EP300 | 2033 | NM_001429.4:c.1528+2T>C | CA411686319 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
CDH1 | 999 | NM_004360.5:c.688-2A>G | CA396458344 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
CREBBP | 1387 | NM_004380.3:c.4134-1G>A | CA394565005 | Intron inclusion between exons 24 & 25 | BAM file(s) page |
SMAD4 | 4089 | NM_005359.6:c.1447+1G>C | CA402465397 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
KDM6A | 7403 | NM_001291415.2:c.3095-1G>C | CA412800622 | Intron inclusion between exons 20 & 21 | BAM file(s) page |
KMT2C | 58508 | NM_170606.3:c.11812+1G>A | CA370097867 | Intron inclusion between exons 45 & 46 | BAM file(s) page |
FAS | 355 | NM_000043.6:c.444-1G>C | CA377508901 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
HPS4 | 89781 | NM_022081.6:c.502-1G>A | CA411030575 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
CC2D1A | 54862 | NM_017721.5:c.2125+1G>T | CA404395415 | Intron inclusion between exons 20 & 21 | BAM file(s) page |
GPSM2 | 29899 | NM_013296.5:c.1815+2T>C | CA341451957 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
TNNT1 | 7138 | NM_003283.6:c.388-1G>A | CA407434160 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
BCAT2 | 587 | NM_001190.4:c.531+1G>A | CA406725165 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
CLPP | 8192 | NM_006012.4:c.556-2A>T | CA403590073 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
GAA | 2548 | NM_000152.5:c.1754+2T>G | CA401369204 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ACADVL | 37 | NM_000018.4:c.343-1G>A | CA312290 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
ECHS1 | 1892 | NM_004092.4:c.515-1G>T | CA378819706 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
GSS | 2937 | NM_000178.4:c.1302-1G>A | CA408700085 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ACADVL | 37 | NM_000018.4:c.277+2T>C | CA397722483 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
INPP5E | 56623 | NM_019892.6:c.1665+1G>A | CA375561522 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
TTC21B | 79809 | NM_024753.5:c.3805+2T>A | CA349045620 | Intron inclusion between exons 27 & 28 | BAM file(s) page |
VPS13B | 157680 | NM_152564.5:c.1651+1G>A | CA4822695 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
DNAJC19 | 131118 | NM_145261.4:c.129+1G>A | CA89106660 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
USH1C | 10083 | NM_153676.4:c.819+2T>G | CA379789318 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
NBEAL2 | 23218 | NM_015175.3:c.4485-1G>T | CA2361263 | Intron inclusion between exons 28 & 29 | BAM file(s) page |
NDUFS2 | 4720 | NM_004550.4:c.96-2A>G | CA343376749 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
ACADM | 34 | NM_000016.6:c.119-2A>G | CA340809054 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
CC2D1A | 54862 | NM_017721.5:c.2074-1G>T | CA404394847 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
VPS33B | 26276 | NM_018668.5:c.1658-1G>T | CA393884838 | Intron inclusion between exons 21 & 22 | BAM file(s) page |
DLD | 1738 | NM_000108.5:c.1236+1G>A | CA368858670 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
HADHA | 3030 | NM_000182.5:c.677-1G>A | CA346091704 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
HEXA | 3073 | NM_000520.6:c.412+1G>T | CA393066579 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
NDUFS4 | 4724 | NM_002495.4:c.350+1G>A | CA359719915 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
CSPP1 | 79848 | NM_024790.6:c.3455-2A>G | CA371203855 | Intron inclusion between exons 28 & 29 | BAM file(s) page |
MTHFR | 4524 | NM_005957.5:c.236+1G>A | CA16044134 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
BCKDK | 10295 | NM_005881.4:c.424-1G>T | CA395657630 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
ACADVL | 39 | NM_000018.3:c.1270-1G>A | CA397724740 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
LPIN1 | 23175 | NM_001349206.2:c.1714-1G>T | CA345850009 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ASS1 | 445 | NM_054012.4:c.175-1G>T | CA375224765 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
MMAB | 326625 | NM_052845.4:c.290+2T>C | CA386639400 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
WDR62 | 284403 | NM_001083961.2:c.2034+1G>A | CA405442267 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
DHTKD1 | 55526 | NM_018706.7:c.987+1G>T | CA376018924 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TTC21B | 79809 | NM_024753.5:c.894+1G>A | CA349048604 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
DNAH5 | 1767 | NM_001369.3:c.6579+2T>C | CA359197017 | Intron inclusion between exons 39 & 40 | BAM file(s) page |
MCCC2 | 64087 | NM_022132.5:c.804-1G>C | CA359986017 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
VPS13B | 157680 | NM_152564.5:c.7247+2T>C | CA371874664 | Intron inclusion between exons 40 & 41 | BAM file(s) page |
POMT1 | 10585 | NM_001077365.2:c.1082+2T>C | CA375308966 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
ECHS1 | 1892 | NM_004092.4:c.287-2A>G | CA378822093 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
TTC7A | 57217 | NM_020458.4:c.518-2A>T | CA346722756 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
CPT1A | 1374 | NM_001876.4:c.2236-1G>T | CA381624957 | Intron inclusion between exons 18 & 19 | BAM file(s) page |
CSPP1 | 79848 | NM_024790.6:c.1683-2A>G | CA371203404 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
PNKP | 11284 | NM_007254.4:c.637-1G>T | CA406886505 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
DNAH5 | 1767 | NM_001369.3:c.8448+1G>A | CA359218685 | Intron inclusion between exons 50 & 51 | BAM file(s) page |
SERPINB6 | 5269 | NM_004568.6:c.730-1G>T | CA362580253 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
ABCC4 | 10257 | NM_005845.5:c.2034+1G>T | CA388398781 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
KYNU | 8942 | NM_003937.3:c.374-2A>G | CA57515842 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
LAMB1 | 3912 | NM_002291.3:c.4746-2A>C | CA368862349 | Intron inclusion between exons 30 & 31 | BAM file(s) page |
EPS8L2 | 64787 | NM_022772.4:c.769-2A>T | CA216939698 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
GLUL | 2752 | NM_001033044.4:c.329-2A>G | CA343641250 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
GLUL | 2752 | NM_001033044.4:c.604-2A>G | CA343640218 | Intron inclusion between exons 5 & 6, or skipping beginning of exon 6 | BAM file(s) page |
MED23 | 9439 | NM_004830.4:c.3472-1G>T | CA365659049 | Intron inclusion between exons 25 & 26 | BAM file(s) page |
MED23 | 9439 | NM_004830.4:c.2427-1G>A | CA365668344 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
NGLY1 | 55768 | NM_018297.4:c.659-1G>A | CA351904711 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
PRKDC | 5591 | NM_006904.7:c.10458+2T>C | CA371134752 | Intron inclusion between exons 73 & 74 | BAM file(s) page |
ETFDH | 2110 | NM_004453.4:c.684+1G>T | CA358560066 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
POMGNT1 | 55624 | NM_017739.4:c.354+1G>A | CA16040755 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
ADA | 100 | NM_000022.4:c.679-1G>A | CA409120361 | Intron inclusion between exons 7 & 8 | BAM file(s) page |
POLH | 5429 | NM_006502.3:c.1244+1G>T | CA364262449 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
SLC1A4 | 6509 | NM_003038.5:c.1034+2T>C | CA347008975 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
FNIP1 | 96459 | NM_133372.3:c.3423-1G>T | CA360794924 | Intron inclusion between exons 17 & 18 | BAM file(s) page |
LRPPRC | 10128 | NM_133259.4:c.2505-1G>T | CA346671864 | Intron inclusion between exons 23 & 24 | BAM file(s) page |
ACOX1 | 51 | NM_004035.7:c.1728+2T>G | CA401059684 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
HEXA | 3073 | NM_000520.6:c.1073+1G>A | CA221064 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
PEX6 | 5190 | NM_000287.4:c.2667-1G>T | CA364150525 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
AHI1 | 54806 | NM_001134831.2:c.1441-1G>C | CA365745709 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
ABCC4 | 10257 | NM_005845.5:c.3735+2T>C | CA388397283 | Intron inclusion between exons 29 & 30 | BAM file(s) page |
MED23 | 9439 | NM_004830.4:c.2779-1G>C | CA365664888 | Intron inclusion between exons 21 & 22 | BAM file(s) page |
LARS2 | 23395 | NM_015340.4:c.1761-2A>C | CA352427214 | Intron inclusion between exons 15 & 16 | BAM file(s) page |
ACADM | 34 | NM_000016.6:c.388-2A>G | CA340812778 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
PLG | 5340 | NM_000301.5:c.1801A>C | CA453029002 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
SERPINE1 | 5054 | NM_000602.5:c.1172-3C>G | CA2573320819 | Intron inclusion between exons 8 & 9 | BAM file(s) page |
HEXA | 3073 | NM_000520.6:c.1421+5G>T | CA491115360 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
SBF1 | 6305 | NM_002972.4:c.5583+3G>C | CA2573331822 | Intron inclusion between exons 40 & 41 | BAM file(s) page |
NDUFS2 | 4720 | NM_004550.4:c.1354+5G>A | CA292498 | Probable decrease in frequency of NM_004550.4 isoform | BAM file(s) page |
RECQL4 | 9401 | NM_004260.4:c.1258+3G>C | CA2573331893 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
CNNM4 | 26504 | NM_020184.4:c.1680A>G | CA427517881 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
ADAMTS13 | 11093 | NM_139027.6:c.3401-3C>A | CA2573331851 | Intron inclusion between exons 25 & 26 | BAM file(s) page |
ERCC3 | 2071 | NM_000122.2:c.657+6T>C | CA536067622 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TIMM50 | 92609 | NM_001001563.5:c.291G>A | CA405786427 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
MFSD8 | 256471 | NM_001371596.2:c.1350G>A | CA315945 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
SBF2 | 81846 | NM_030962.4:c.513G>A | CA473081533 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
MOGS | 7841 | NM_006302.3:c.580-3C>T | CA1261438742 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
GPT2 | 84706 | NM_133443.4:c.1213-3C>G | CA2573331979 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
SLC39A7 | 7922 | NM_006979.3:c.635-3C>A | CA1087652285 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
FAH | 2184 | NM_000137.4:c.455+5G>A | CA2573332024 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
ABHD12 | 26090 | NM_001042472.3:c.1157+3G>C | CA2573332047 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ARPC1B | 10095 | NM_005720.4:c.708-3C>T | CA4364109 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
HEXA | 3073 | NM_000520.6:c.1073+3G>C | CA2186744415 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
FGD4 | 121512 | NM_001370298.3:c.501C>T | CA479213665 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
FLAD1 | 80308 | NM_025207.5:c.1628+4A>G | CA1007966009 | Probable decrease in frequency of NM_025207.5 isoform | BAM file(s) page |
NDUFS2 | 4720 | NM_004550.4:c.1116G>A | CA421417318 | Intron inclusion between exons 11 & 12 | BAM file(s) page |
FLAD1 | 80308 | NM_025207.5:c.1552C>T | CA421237025 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
PNKP | 11284 | NM_007254.4:c.152-8A>G | CA9587032 | Potential intron inclusion between exons 2 & 3 | BAM file(s) page |
PTEN | 5728 | NM_000314.8:c.1026G>A | CA470973807 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | BAM file(s) page |
DNMT3A | 1788 | NM_022552.5:c.1935A>T | CA425182088 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.375G>C | CA497926317 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
EP300 | 2033 | NM_001429.4:c.2241G>A | CA10252784 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
ASXL1 | 171023 | NM_015338.6:c.1719G>A | CA510201294 | Intron inclusion between exons 12 & 13 | BAM file(s) page |
BCL7C | 9274 | NM_004765.4:c.528+3G>C | CA2573332812 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.993G>A | CA10590137 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
KMT2C | 58508 | NM_170606.3:c.3840A>G | CA458693316 | Intron inclusion between exons 24 & 25 | BAM file(s) page |
ARID1A | 8289 | NM_006015.6:c.2989-3C>G | CA2573332857 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
ARID2 | 196528 | NM_152641.4:c.1911A>T | CA479401163 | Intron inclusion between exons 14 & 15 | BAM file(s) page |
POLD1 | 5424 | NM_002691.4:c.1243-3C>G | CA915951932 | Potential intron inclusion between exons 10 & 11 | BAM file(s) page |
RAD51B | 5890 | NM_133510.4:c.957G>A | CA486946548 | Potential intron inclusion between exons 9 & 10 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.375+1del | CA497926316 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.376-1G>C | CA397843972 | Potential intron inclusion between exons 4 & 5 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.560-1G>C | CA397840948 | Potential intron inclusion between exons 5 & 6 | BAM file(s) page |
TP53 | 7157 | NM_000546.6:c.96+1G>T | CA397848251 | Potential intron inclusion between exons 3 & 4 | BAM file(s) page |
EP300 | 2033 | NM_001429.4:c.4617+1G>A | CA411703776 | Intron inclusion between exons 28 & 29 | BAM file(s) page |
KDM5C | 8242 | NM_004187.5:c.3120+2T>C | CA413111014 | Intron inclusion between exons 20 & 21 | BAM file(s) page |
ERCC4 | 2072 | NM_005236.3:c.1811+2C>A | CA394812929 | Potential intron inclusion between exons 8 & 9 | BAM file(s) page |
CACNA1D | 776 | NM_001128840.3:c.2621+1G>A | CA353241728 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
TRMU | 55687 | NM_018006.5:c.1017A>G | CA514925893 | Potential intron inclusion between exons 9 & 10 | BAM file(s) page |
FKTN | 2218 | NM_001079802.2:c.165+1G>A | CA197430741 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
ACADM | 34 | NM_000016.6:c.850-1G>A | CA340816900 | Potential intron inclusion between exons 9 & 10 | BAM file(s) page |
PRKDC | 5591 | NM_006904.7:c.8577G>A | CA460602606 | Intron inclusion between exons 62 & 63 | BAM file(s) page |
PRKDC | 5591 | NM_006904.7:c.11853G>A | CA460601542 | Intron inclusion between exons 83 & 84 | BAM file(s) page |
BAP1 | 8314 | NM_004656.4:c.932-1G>T | CA353106396 | Potential intron inclusion between exons 10 & 11, or exon 11 skipping | BAM file(s) page |
KDM6A | 7403 | NM_001291415.2:c.4035-2A>T | CA412774216 | Potential intron inclusion between exons 27 & 28 or skipping beginning of exon 28 | BAM file(s) page |
SMARCD1 | 6602 | NM_003076.5:c.1134-1G>A | CA384793796 | Intron inclusion between exons 9 & 10 | BAM file(s) page |
FH | 2271 | NM_000143.4:c.904+2_904+3delinsGG | CA2580617570 | Potential intron inclusion between exons 6 & 7 | BAM file(s) page |
RECQL4 | 9401 | NM_004260.4:c.355-1G>C | CA372691804 | Potential intron inclusion between exons 4 & 5 | BAM file(s) page |
VHL | 7428 | NM_000551.4:c.340+1G>C | CA020282 | Potential intron inclusion between exons 1 & 2 | BAM file(s) page |
VHL | 7428 | NM_000551.4:c.464-1G>T | CA357144 | Potential intron inclusion between exons 2 & 3 | BAM file(s) page |
NF1 | 4763 | NM_001042492.3:c.7063-2A>G | CA399015494 | Intron inclusion between exons 47 & 48 | BAM file(s) page |
EZH2 | 2146 | NM_004456.5:c.2195+1G>A | CA369711878 | Intron inclusion between exons 19 & 20 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.343+1G>A | CA363892418 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.343+1_343+2delinsTC | CA2838139393 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
HLA-A | 3105 | NM_002116.8:c.1013-1G>C | CA363048355 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
QKI | 9444 | NM_006775.3:c.634+2T>C | CA366480861 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.619+3A>T | CA136833468 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
HLA-A | 3105 | NM_002116.8:c.620-1G>A | CA363045865 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
HLA-C | 3107 | NM_002117.6:c.1048+2T>G | CA363319411 | Intron inclusion between exons 6 & 7 | BAM file(s) page |
HLA-C | 3107 | NM_002117.6:c.1016-1G>T | CA363319482 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
B2M | 567 | NM_004048.4:c.346+1G>C | CA392233911 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
KLF3 | 51274 | NM_016531.6:c.856+2T>C | CA356598393 | Intron inclusion between exons 5 & 6 | BAM file(s) page |
HLA-A | 3105 | NM_002116.8:c.895+2T>C | CA363047688 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
B2M | 567 | NM_004048.4:c.68-2A>G | CA270116941 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.896-1G>C | CA363309222 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
RPL5 | 6125 | NM_000969.3:c.74-6T>G | CA2844606229 | Intron inclusion between exons 2 & 3 | BAM file(s) page |
IFNGR1 | 3459 | NM_000416.3:c.547-1G>C | CA365775167 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
CUL3 | 8452 | NM_003590.5:c.1485+2T>C | CA350826515 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
B2M | 567 | NM_004048.4:c.68-1G>T | CA392232570 | Intron inclusion between exons 1 & 2 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.620-3C>G | CA2677955357 | Intron inclusion between exons 3 & 4 | BAM file(s) page |
HLA-B | 3106 | NM_005514.8:c.896-1G>A | CA363309225 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
CUL3 | 8452 | NM_003590.5:c.1485+1G>T | CA350826518 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
NCOR1 | 9611 | NM_006311.4:c.3016+2T>C | CA398449053 | Intron inclusion between exons 22 & 23 | BAM file(s) page |
DDX3X | 1654 | NM_001356.5:c.1910-1G>T | CA412780704 | Intron inclusion between exons 16 & 17 | BAM file(s) page |
FAT1 | 2195 | NM_005245.4:c.8878+1G>T | CA358959810 | Intron inclusion between exons 10 & 11 | BAM file(s) page |
HLA-A | 3105 | NM_002116.8:c.895+1G>T | CA136025051 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
IRF2 | 3660 | NM_002199.4:c.363A>G | CA442580600 | Intron inclusion between exons 4 & 5 | BAM file(s) page |
CTNNA1 | 1495 | NM_001903.5:c.1900-1G>T | CA361132666 | Intron inclusion between exons 13 & 14 | BAM file(s) page |
KMT2B | 9757 | NM_014727.3:c.7872+1G>T | CA405439832 | Intron inclusion between exons 36 & 37 | BAM file(s) page |
KMT2B | 9757 | NM_014727.3:c.7551-3C>G | CA2850447411 | Potential intron inclusion between exons 33 & 34 | BAM file(s) page |
IRF1 | 3659 | NM_002198.3:c.718-2A>G | CA360814405 | Intron inclusion between exons 8 & 9 | BAM file(s) page |