view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUDT3_chr6_34274679_34397669 | 34354735 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0265 | 1 | 270 | 0.0037 | 24 | c.100 others(43): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUDT3_chr6_34274679_34397669 | 34354749 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03017.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0040 | a0001c0001t0007g0122 a0001c0001t0007g0125 a0001c0001t0018g0128 others(1): Show |
4 | 270 | 0.0148 | 24 | c.100 others(43): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUDT3_chr6_34274679_34397669 | 34366473 | A | AAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02976.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0039a0001c0001t0059 | a0001c0001t0018g0128 a0001c0001t0039g0127 a0001c0001t0059g0135 |
3 | 270 | 0.0111 | 24 | c.100 others(43): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93374689 | C | CTATTTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0051a0001c0001t0052a0001c0001t0054others(4): Show | a0001c0001t0051g0217 a0001c0001t0052g0219 a0001c0001t0052g0240 others(5): Show |
8 | 414 | 0.0193 | 24 | c.-36 others(35): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 3235 | chr12 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93385970 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0214 | a0001c0001t0214g0236 | 1 | 414 | 0.0024 | 24 | c.99+ others(39): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUDT4_chr12_93372925_93413146 | 93406275 | C | CAAAAAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01981.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0053a0001c0001t0142others(1): Show | a0001c0001t0046g0196 a0001c0001t0046g0232 a0001c0001t0053g0215 others(3): Show |
6 | 414 | 0.0145 | 24 | c.*69 others(35): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 5/5 | 6927 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUDT6_chr4_122887577_122927597 | 122899044 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0139 | 1 | 368 | 0.0027 | 24 | c.499 others(41): Show |
NUDT6 | ENSG00000170917.14 | transcript | ENST00000304430.10 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
NUF2_chr1_163316954_163360759 | 163359848 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0162 | 1 | 400 | 0.0025 | 24 | c.*43 others(35): Show |
NUF2 | ENSG00000143228.13 | transcript | ENST00000271452.8 | protein_coding | 4090 | chr1 | TogoVar | |||||||
NUFIP2_chr17_29250839_29299148 | 29276029 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0220 | 1 | 356 | 0.0028 | 24 | c.200 others(43): Show |
NUFIP2 | ENSG00000108256.9 | transcript | ENST00000225388.9 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
NUMA1_chr11_71997864_72085542 | 72049559 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01192.hp1 others(23): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0007a0001c0028others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0007t0001others(5): Show | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0126 others(23): Show |
26 | 244 | 0.1066 | 24 | c.-32 others(43): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73350070 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG03710.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0282 a0001c0001t0007g0280 |
2 | 322 | 0.0062 | 24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73350074 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 322 | 0.0031 | 24 | c.126 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73367348 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 322 | 0.0031 | 24 | c.-10 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73367348 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 322 | 0.0031 | 24 | c.-10 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73445354 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 322 | 0.0031 | 24 | c.-23 others(45): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229472707 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0122 | 1 | 276 | 0.0036 | 24 | c.185 others(43): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 14/25 | chr1 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229472707 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02015.hp2 HG03139.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002a0003c0003t0006 | a0002c0002t0002g0217 a0002c0002t0002g0228 a0002c0002t0002g0242 others(4): Show |
7 | 276 | 0.0254 | 24 | c.185 others(43): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 14/25 | chr1 | TogoVar | |||||||
NUP155_chr5_37283137_37376106 | 37294005 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02132.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0153 |
3 | 300 | 0.0100 | 24 | c.393 others(41): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 33/34 | chr5 | TogoVar | |||||||
NUP188_chr9_128942699_129012096 | 128984124 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02451.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0124 a0001c0002t0001g0011 others(1): Show |
4 | 296 | 0.0135 | 24 | c.196 others(41): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135561900 | G | GTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0168 | 1 | 352 | 0.0028 | 24 | c.28+ others(39): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135629469 | A | ATCTCTCT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02074.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 a0001c0003t0001g0295 a0001c0003t0001g0338 others(1): Show |
4 | 352 | 0.0114 | 24 | c.493 others(41): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 34/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125622 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02004.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0054 others(4): Show |
7 | 290 | 0.0241 | 24 | c.132 others(41): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(17): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0177 | 1 | 326 | 0.0031 | 24 | c.*57 others(35): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(17): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0021 | a0021c0018 | a0021c0018t0006 | a0021c0018t0006g0054 | 1 | 326 | 0.0031 | 24 | c.*57 others(35): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(17): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG02683.hp1 |
a0002a0012 | a0002c0002a0012c0012 | a0002c0002t0001a0012c0012t0004 | a0002c0002t0001g0228 a0002c0002t0001g0229 a0012c0012t0004g0318 |
3 | 326 | 0.0092 | 24 | c.*57 others(35): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13311967 | C | CCACCACC others(17): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0012 | a0012c0012 | a0012c0012t0004 | a0012c0012t0004g0272 | 1 | 326 | 0.0031 | 24 | c.*57 others(35): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4267 | chr3 | TogoVar | |||||||
NUP214_chr9_131120586_131239663 | 131130137 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01928.hp2 HG02135.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0210 |
3 | 234 | 0.0128 | 24 | c.593 others(39): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131193629 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0074 |
2 | 234 | 0.0086 | 24 | c.365 others(43): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 234 | 0.0043 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19000.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 a0002c0002t0001g0184 |
2 | 234 | 0.0086 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(17): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02015.hp1 HG03831.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0233 a0001c0004t0001g0140 others(7): Show |
10 | 234 | 0.0427 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03490.hp2 HG03927.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0189 others(7): Show |
10 | 234 | 0.0427 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG02735.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0110 a0001c0006t0001g0182 a0002c0002t0001g0116 others(7): Show |
10 | 234 | 0.0427 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0081 a0001c0004t0001g0204 a0001c0006t0001g0169 others(5): Show |
8 | 234 | 0.0342 | 24 | c.590 others(41): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP35_chr2_183119443_183166680 | 183121915 | T | TTTATTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(83): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show |
86 | 402 | 0.2139 | 24 | c.-25 others(35): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 2527 | chr2 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76125619 | G | GGAGGGGG others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00639.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 a0001c0001t0004g0123 a0001c0001t0004g0127 others(3): Show |
7 | 370 | 0.0189 | 24 | c.105 others(41): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107152053 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 280 | 0.0036 | 24 | c.530 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 7/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107152081 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 280 | 0.0036 | 24 | c.530 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 7/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107152117 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 a0001c0001t0003g0142 |
2 | 280 | 0.0071 | 24 | c.530 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 7/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107189882 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 280 | 0.0036 | 24 | c.-48 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
NUP88_chr17_5379833_5424662 | 5416178 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0113 | 1 | 370 | 0.0027 | 24 | c.467 others(39): Show |
NUP88 | ENSG00000108559.13 | transcript | ENST00000573584.6 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
NUP88_chr17_5379833_5424662 | 5416180 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA19055.hp1 |
a0001a0004 | a0001c0007a0004c0017 | a0001c0007t0007a0004c0017t0008 | a0001c0007t0007g0195 a0001c0007t0007g0196 a0004c0017t0008g0287 |
3 | 370 | 0.0081 | 24 | c.467 others(39): Show |
NUP88 | ENSG00000108559.13 | transcript | ENST00000573584.6 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808499 | T | TAAAATAT others(17): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0279 | 1 | 378 | 0.0027 | 24 | c.489 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808503 | T | TATATAGT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01928.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0006t0009 | a0001c0003t0002g0255 a0001c0003t0002g0266 a0001c0003t0002g0270 others(7): Show |
10 | 378 | 0.0265 | 24 | c.489 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815865 | A | ACTGCTGC others(17): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0026 | 1 | 378 | 0.0027 | 24 | c.490 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815881 | C | CTGCTGCT others(17): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0113 | 1 | 378 | 0.0027 | 24 | c.490 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56827044 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0186 others(1): Show |
4 | 378 | 0.0106 | 24 | c.795 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3688824 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 342 | 0.0029 | 24 | c.445 others(43): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 28/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3707738 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0161 others(2): Show |
5 | 342 | 0.0146 | 24 | c.274 others(43): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 20/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3724780 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 NA19063.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041 a0001c0001t0001g0278 a0001c0002t0001g0261 |
3 | 342 | 0.0088 | 24 | c.184 others(41): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 15/32 | chr11 | TogoVar |