regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP214_chr9_131120586_131239663 | 131184014 | TTTTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0015 | a0015c0028 | a0015c0028t0004 | a0015c0028t0004g0207 | 1 | 234 | 0.0043 | -12 | c.342 others(31): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 24/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP214_chr9_131120586_131239663 | 131193629 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0020 | a0002c0020t0012 | a0002c0020t0012g0132 | 1 | 234 | 0.0043 | -12 | c.365 others(31): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP214_chr9_131120586_131239663 | 131213751 | CTGTTGTT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0212 | 1 | 234 | 0.0043 | -12 | c.559 others(31): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP43_chr6_149719315_149751529 | 149720690 | CGTGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 328 | 0.0031 | -12 | c.*62 others(23): Show |
NUP43 | ENSG00000120253.14 | transcript | ENST00000340413.7 | protein_coding | 3624 | chr6 | TogoVar | ||||||
NUP50_chr22_45158925_45193017 | 45161661 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01070.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(16): Show | a0001c0001t0003g0013a0001c0001t0003g0024a0001c0001t0003g0025others(57): Show | 65 | 432 | 0.1505 | -12 | c.-26 others(23): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 2263 | chr22 | TogoVar | ||||||
NUP50_chr22_45158925_45193017 | 45166283 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(132): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(23): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0005others(78): Show | 135 | 432 | 0.3125 | -12 | c.-10 others(29): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NUP50_chr22_45158925_45193017 | 45191637 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00673.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0003g0013a0001c0001t0003g0024a0001c0001t0003g0025others(64): Show | 78 | 432 | 0.1806 | -12 | c.*69 others(23): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 3621 | chr22 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76129883 | AAAAAACC others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp2 others(71): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0007 | a0002c0002t0003a0004c0006t0003a0005c0007t0003 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0005others(51): Show | 74 | 370 | 0.2000 | -12 | c.105 others(29): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76129966 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0004a0001c0004t0004a0002c0002t0003 | a0001c0001t0004g0008a0001c0001t0004g0014a0001c0001t0004g0015others(41): Show | 49 | 370 | 0.1324 | -12 | c.105 others(29): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | ||||||
NUP58_chr13_25296625_25347421 | 25305130 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02717.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0004a0003c0004t0001 | a0001c0003t0004g0194a0003c0004t0001g0294a0003c0004t0001g0295others(1): Show | 4 | 350 | 0.0114 | -12 | c.108 others(29): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NUP58_chr13_25296625_25347421 | 25310206 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 350 | 0.0029 | -12 | c.286 others(27): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NUP58_chr13_25296625_25347421 | 25319334 | ACGGGAAC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA19072.hp1 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0199 | 1 | 350 | 0.0029 | -12 | c.696 others(19): Show |
p.Gly others(13): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 7/16 | 845/4236 | 696/1800 | 232/599 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
NUP62CL_chrX_107118427_107211433 | 107184291 | AAAGAGAA others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119a0001c0001t0003g0279 | 2 | 280 | 0.0071 | -12 | c.-48 others(29): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107184296 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0002c0002t0001others(1): Show | a0001c0001t0003g0142a0001c0001t0003g0267a0001c0001t0003g0268others(36): Show | 39 | 280 | 0.1393 | -12 | c.-48 others(29): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107189877 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0110 | 1 | 280 | 0.0036 | -12 | c.-48 others(29): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62_chr19_49901825_49934504 | 49914726 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0019t0017others(1): Show | a0001c0001t0002g0079a0001c0001t0007g0033a0001c0001t0007g0034others(4): Show | 10 | 416 | 0.0240 | -12 | c.-77 others(29): Show |
NUP62 | ENSG00000213024.13 | transcript | ENST00000352066.8 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
NUP85_chr17_75200679_75240758 | 75202792 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01928.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0073a0001c0008t0001g0187 | 2 | 276 | 0.0073 | -12 | c.-29 others(23): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 2886 | chr17 | TogoVar | ||||||
NUP85_chr17_75200679_75240758 | 75212083 | CGCGCGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210a0001c0002t0001g0211a0001c0002t0001g0212others(6): Show | 9 | 276 | 0.0326 | -12 | c.361 others(25): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739662 | CGGGCGGA others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012a0001c0001t0013g0013a0001c0001t0013g0014 | 3 | 378 | 0.0079 | -12 | c.-14 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56794082 | GTAGGTAG others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(19): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0024 | a0001c0004t0005g0021a0001c0004t0005g0022a0001c0004t0005g0023others(19): Show | 22 | 378 | 0.0582 | -12 | c.298 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56794086 | GTAGGTAG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00733.hp1 others(20): Show |
a0001a0008a0009 | a0001c0001a0008c0018a0009c0015 | a0001c0001t0004a0001c0001t0013a0001c0001t0035others(2): Show | a0001c0001t0004g0198a0001c0001t0004g0220a0001c0001t0004g0221others(20): Show | 23 | 378 | 0.0609 | -12 | c.298 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56794927 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp2 others(37): Show |
a0001a0004a0010 | a0001c0001a0001c0005a0004c0023others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0027others(5): Show | a0001c0001t0003g0348a0001c0001t0003g0349a0001c0001t0003g0350others(37): Show | 40 | 378 | 0.1058 | -12 | c.298 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56795630 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 378 | 0.0027 | -12 | c.298 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56804187 | CCTTGCAG others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0034 | a0001c0001t0016g0191a0001c0001t0016g0192a0001c0001t0016g0193others(1): Show | 4 | 378 | 0.0106 | -12 | c.361 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56815865 | ACTGCTGC others(5): Show |
A | intron_variant | MODIFIER | HG02300.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0003t0002 | a0001c0001t0036g0148a0001c0003t0002g0290 | 2 | 378 | 0.0053 | -12 | c.490 others(29): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56837557 | TTTTATTG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00735.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0036a0001c0001t0038others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0046others(55): Show | 58 | 378 | 0.1534 | -12 | c.190 others(27): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP98_chr11_3670019_3802554 | 3697820 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00738.hp2 others(23): Show |
a0001a0004a0012others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0038a0001c0001t0001g0039others(23): Show | 26 | 342 | 0.0760 | -12 | c.400 others(31): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 25/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702309 | ACACACTC others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0116 | 1 | 342 | 0.0029 | -12 | c.351 others(29): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702311 | ACACTCTC others(5): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0319 | 1 | 342 | 0.0029 | -12 | c.351 others(29): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702313 | ACTCTCTC others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(19): Show |
a0001a0007a0013others(1): Show | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0016t0001others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0038a0001c0001t0001g0045others(19): Show | 22 | 342 | 0.0643 | -12 | c.351 others(29): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3729715 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 342 | 0.0029 | -12 | c.173 others(31): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 14/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3735748 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02559.hp1 HG02559.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0324a0001c0001t0008g0325a0001c0002t0001g0192others(4): Show | 7 | 342 | 0.0205 | -12 | c.140 others(29): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 12/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3749667 | TTAGTGGT others(5): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 342 | 0.0029 | -12 | c.126 others(31): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 11/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3755838 | CCTATAAT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01168.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0299a0002c0005t0001g0300a0002c0005t0001g0301others(3): Show | 6 | 342 | 0.0175 | -12 | c.117 others(31): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 10/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3761771 | CAAAACAA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02559.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0010 | a0001c0001t0001a0001c0001t0008a0001c0012t0001others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0324a0001c0001t0001g0336others(5): Show | 8 | 342 | 0.0234 | -12 | c.108 others(31): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3778198 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18955.hp1 NA18957.hp1 NA19002.hp2 others(2): Show |
a0001a0010 | a0001c0002a0010c0014 | a0001c0002t0001a0010c0014t0001 | a0001c0002t0001g0262a0001c0002t0001g0264a0001c0002t0001g0265others(2): Show | 5 | 342 | 0.0146 | -12 | c.355 others(27): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 4/32 | chr11 | TogoVar | ||||||
NUPR1_chr16_28527708_28543974 | 28535556 | TTTCTTTC others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0133 | 1 | 368 | 0.0027 | -12 | c.*21 others(23): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2451 | chr16 | TogoVar | |||||
NUS1_chr6_117670469_117715727 | 117686852 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03669.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0147a0001c0001t0004g0182a0001c0001t0004g0209 | 3 | 430 | 0.0070 | -12 | c.416 others(29): Show |
NUS1 | ENSG00000153989.8 | transcript | ENST00000368494.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NUSAP1_chr15_41327881_41386046 | 41329063 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0119a0003c0004t0004g0178a0003c0004t0004g0179others(4): Show | 7 | 292 | 0.0240 | -12 | c.-38 others(23): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 3817 | chr15 | TogoVar | ||||||
NUSAP1_chr15_41327881_41386046 | 41346828 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0103a0001c0001t0001g0108a0001c0001t0001g0127others(44): Show | 48 | 292 | 0.1644 | -12 | c.163 others(29): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUSAP1_chr15_41327881_41386046 | 41361644 | GAACGACT others(5): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 292 | 0.0034 | -12 | c.660 others(29): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUTF2_chr16_67841933_67877567 | 67842908 | GCAGCAGC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 248 | 0.0040 | -12 | c.-41 others(23): Show |
NUTF2 | ENSG00000102898.13 | transcript | ENST00000219169.9 | protein_coding | 4024 | chr16 | TogoVar | ||||||
NUTF2_chr16_67841933_67877567 | 67851207 | GTGCGGTG others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0174a0001c0001t0007g0175 | 2 | 248 | 0.0081 | -12 | c.-30 others(29): Show |
NUTF2 | ENSG00000102898.13 | transcript | ENST00000219169.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUTM1_chr15_34338315_34362735 | 34346881 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0333 | 2 | 454 | 0.0044 | -12 | c.100 others(27): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUTM1_chr15_34338315_34362735 | 34347853 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA19240.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0106a0004c0005t0001g0149 | 2 | 454 | 0.0044 | -12 | c.101 others(25): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
NUTM2B_chr10_79698227_79717758 | 79708587 | AGGGACAG others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03239.hp2 |
a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0032 | 2 | 305 | 0.0066 | -12 | c.108 others(28): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NUTM2B_chr10_79698227_79717758 | 79712336 | GCTGAAAA others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG01891.hp2 HG02145.hp2 others(17): Show |
a0006a0013a0015others(1): Show | a0006c0008a0006c0033a0006c0036others(3): Show | a0006c0008t0002a0006c0033t0002a0006c0036t0002others(3): Show | a0006c0008t0002g0013a0006c0008t0002g0060a0006c0008t0002g0061others(9): Show | 20 | 305 | 0.0656 | -12 | c.249 others(21): Show |
p.Glu others(13): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 7/7 | 2873/3293 | 2490/2637 | 830/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
NUTM2E_chr10_79821739_79855878 | 79826383 | GGGCGGCG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 NA21309.hp1 |
a0015 | a0015c0021 | a0015c0021t0002a0015c0021t0039 | a0015c0021t0002g0112a0015c0021t0039g0113 | 2 | 412 | 0.0049 | -12 | c.-37 others(23): Show |
NUTM2E | ENSG00000228570.8 | transcript | ENST00000429984.5 | protein_coding | 355 | chr10 | TogoVar | ||||||
NUTM2G_chr9_96923843_96944416 | 96930872 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 374 | 0.0027 | -12 | c.17- others(25): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NVL_chr1_224222345_224335172 | 224256423 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 284 | 0.0035 | -12 | c.218 others(31): Show |
NVL | ENSG00000143748.18 | transcript | ENST00000281701.11 | protein_coding | 18/22 | chr1 | TogoVar |