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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NSMCE2_chr8_125086860_125372120 | 125333505 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0001g0219 others(2): Show |
5 | 244 | 0.0205 | 17 | c.419 others(36): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125367509 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 244 | 0.0041 | 17 | c.*62 others(26): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 390 | chr8 | TogoVar | |||||||
NSMCE3_chr15_29259989_29274822 | 29264154 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 others(5): Show |
109 | 415 | 0.2627 | 17 | c.*46 others(28): Show |
NSMCE3 | ENSG00000185115.6 | transcript | ENST00000332303.6 | protein_coding | 834 | chr15 | TogoVar | |||||||
NSMF_chr9_137442570_137464334 | 137449106 | C | CCCACAGC others(10): Show |
3_prime_UTR_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0006 | a0002c0006t0027 | a0002c0006t0027g0102 | 1 | 414 | 0.0024 | 17 | c.*27 others(26): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 16/16 | 287 | chr9 | TogoVar | ||||||
NSUN2_chr5_6594239_6638044 | 6611448 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01361.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(20): Show |
26 | 438 | 0.0594 | 17 | c.109 others(34): Show |
NSUN2 | ENSG00000037474.15 | transcript | ENST00000264670.11 | protein_coding | 10/18 | chr5 | TogoVar | |||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0181 | 1 | 388 | 0.0026 | 17 | c.754 others(32): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NSUN4_chr1_46335807_46370018 | 46360249 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023 | a0001c0001t0022g0076 a0001c0001t0023g0088 |
2 | 388 | 0.0052 | 17 | c.754 others(32): Show |
NSUN4 | ENSG00000117481.11 | transcript | ENST00000474844.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NSUN6_chr10_18540561_18656587 | 18556312 | G | GGAGAATG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(247): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(244): Show |
250 | 346 | 0.7225 | 17 | c.923 others(34): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18556691 | T | TGGAATGG others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01099.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0300 others(2): Show |
5 | 346 | 0.0145 | 17 | c.923 others(34): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18562787 | T | TGGAATGG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(290): Show |
297 | 346 | 0.8584 | 17 | c.923 others(36): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18563751 | A | ATACCATT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0293 a0001c0001t0011g0294 |
2 | 346 | 0.0058 | 17 | c.923 others(36): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18565264 | T | TCATTCTC others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 a0001c0001t0004g0201 |
2 | 346 | 0.0058 | 17 | c.923 others(36): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18600941 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0315 a0001c0001t0006g0316 |
2 | 346 | 0.0058 | 17 | c.658 others(34): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18600941 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0008g0132 |
3 | 346 | 0.0087 | 17 | c.658 others(34): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
NT5C2_chr10_103083038_103198272 | 103087140 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 340 | 0.0029 | 17 | c.*25 others(28): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 897 | chr10 | TogoVar | |||||||
NT5DC1_chr6_116095853_116254497 | 116163141 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0243 | 1 | 300 | 0.0033 | 17 | c.529 others(36): Show |
NT5DC1 | ENSG00000178425.14 | transcript | ENST00000319550.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NTAQ1_chr8_123411774_123447240 | 123419733 | G | GCCCCTCC others(10): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 366 | 0.0027 | 17 | c.83+ others(32): Show |
NTAQ1 | ENSG00000156795.8 | transcript | ENST00000287387.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NTAQ1_chr8_123411774_123447240 | 123419750 | C | CTCCTCCC others(10): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 366 | 0.0027 | 17 | c.83+ others(32): Show |
NTAQ1 | ENSG00000156795.8 | transcript | ENST00000287387.7 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
NTAQ1_chr8_123411774_123447240 | 123434129 | G | GCTCCTGC others(10): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 366 | 0.0027 | 17 | c.235 others(34): Show |
NTAQ1 | ENSG00000156795.8 | transcript | ENST00000287387.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NTF4_chr19_49056128_49069818 | 49060036 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 396 | 0.0025 | 17 | c.*13 others(28): Show |
NTF4 | ENSG00000225950.9 | transcript | ENST00000593537.2 | protein_coding | 1091 | chr19 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131389024 | A | AAAAAAAG others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0047 a0001c0001t0004g0009 a0001c0001t0010g0019 |
3 | 86 | 0.0349 | 17 | c.82+ others(34): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131401799 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 86 | 0.0116 | 17 | c.82+ others(34): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131424595 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0078 others(1): Show |
4 | 86 | 0.0465 | 17 | c.82+ others(34): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131424600 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0060 a0001c0001t0007g0059 |
2 | 86 | 0.0233 | 17 | c.82+ others(34): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131763709 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 86 | 0.0116 | 17 | c.83- others(36): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131972042 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0055 a0001c0001t0003g0030 a0001c0002t0002g0065 others(2): Show |
5 | 86 | 0.0581 | 17 | c.167 others(36): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9038265 | C | CTCACACA others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0060 | a0001c0001t0001g0103 a0001c0001t0002g0244 a0001c0005t0060g0108 |
3 | 258 | 0.0116 | 17 | c.101 others(38): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9193925 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 258 | 0.0039 | 17 | c.141 others(38): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9193929 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0048 | a0001c0002t0004g0185 a0001c0002t0048g0181 |
2 | 258 | 0.0078 | 17 | c.141 others(38): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NTN1_chr17_9016510_9249000 | 9202056 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0004 | 1 | 258 | 0.0039 | 17 | c.141 others(38): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 5/6 | chr17 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9227657 | T | TCAAACAC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(207): Show |
210 | 258 | 0.8140 | 17 | c.148 others(36): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
NTN4_chr12_95652807_95795764 | 95694319 | G | GGCGGCCA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01258.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0080 a0001c0001t0001g0210 a0001c0001t0001g0211 others(40): Show |
43 | 324 | 0.1327 | 17 | c.118 others(38): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 5/9 | chr12 | TogoVar | |||||||
NTN4_chr12_95652807_95795764 | 95770988 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 324 | 0.0031 | 17 | c.585 others(36): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
NTNG2_chr9_132157058_132249526 | 132189068 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18961.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 a0001c0003t0001g0332 |
2 | 358 | 0.0056 | 17 | c.214 others(34): Show |
NTNG2 | ENSG00000196358.12 | transcript | ENST00000393229.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84750209 | T | TCCCCCTC others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0045 a0001c0002t0008g0013 |
2 | 170 | 0.0118 | 17 | c.129 others(36): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84924229 | T | TAGAAAGA others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0091 | 1 | 170 | 0.0059 | 17 | c.163 others(36): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84926166 | C | CTTCCTTC others(10): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0137 | 1 | 170 | 0.0059 | 17 | c.163 others(36): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84975784 | T | TACAATTC others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02723.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0002g0021 a0001c0001t0002g0129 a0001c0001t0003g0119 others(5): Show |
8 | 170 | 0.0471 | 17 | c.217 others(38): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 17/18 | chr9 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62767578 | A | AAAGAAAG others(10): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03195.hp1 |
a0002 | a0002c0005 | a0002c0005t0010a0002c0005t0057 | a0002c0005t0010g0148 a0002c0005t0057g0147 |
2 | 316 | 0.0063 | 17 | c.*73 others(28): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4808 | chr20 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62767645 | A | AAAGAGAG others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 316 | 0.0032 | 17 | c.*73 others(28): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4875 | chr20 | TogoVar | |||||||
NTSR2_chr2_11653178_11675195 | 11656465 | G | GGGTCTTG others(10): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 460 | 0.0022 | 17 | c.*20 others(28): Show |
NTSR2 | ENSG00000169006.7 | transcript | ENST00000306928.6 | protein_coding | 1712 | chr2 | TogoVar | |||||||
NUAK2_chr1_205297063_205326745 | 205300955 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0002g0144 others(4): Show |
10 | 384 | 0.0260 | 17 | c.*24 others(28): Show |
NUAK2 | ENSG00000163545.11 | transcript | ENST00000367157.6 | protein_coding | 1107 | chr1 | TogoVar | |||||||
NUB1_chr7_151336812_151383449 | 151344180 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 418 | 0.0024 | 17 | c.-2- others(32): Show |
NUB1 | ENSG00000013374.17 | transcript | ENST00000568733.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUBPL_chr14_31556404_31866224 | 31666263 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 268 | 0.0037 | 17 | c.383 others(34): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 4/10 | chr14 | TogoVar | |||||||
NUBPL_chr14_31556404_31866224 | 31732193 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0033 others(17): Show |
20 | 268 | 0.0746 | 17 | c.514 others(36): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NUBPL_chr14_31556404_31866224 | 31841917 | C | CTTTTGTT others(10): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 a0001c0001t0005g0224 |
2 | 268 | 0.0075 | 17 | c.694 others(34): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NUCB1_chr19_48895312_48928372 | 48903376 | G | GGTGTAGA others(10): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 | 1 | 398 | 0.0025 | 17 | c.136 others(32): Show |
NUCB1 | ENSG00000104805.17 | transcript | ENST00000405315.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NUCB1_chr19_48895312_48928372 | 48908648 | C | CTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 398 | 0.0025 | 17 | c.377 others(34): Show |
NUCB1 | ENSG00000104805.17 | transcript | ENST00000405315.9 | protein_coding | 4/12 | chr19 | TogoVar | |||||||
NUCB2_chr11_17271739_17337211 | 17282259 | T | TCTATCTA others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18961.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0232 a0001c0001t0002g0233 |
3 | 360 | 0.0083 | 17 | c.-15 others(34): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
NUCB2_chr11_17271739_17337211 | 17282259 | T | TCTATCTA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 360 | 0.0028 | 17 | c.-15 others(34): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 1/13 | chr11 | TogoVar |