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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOX1_chrX_100838324_100879359 | 100853332 | C | CTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 302 | 0.0033 | 52 | c.805 others(69): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | ||||||
NOXA1_chr9_137418393_137439406 | 137436339 | G | GGCCGGAT others(45): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 2 | 404 | 0.0050 | 52 | c.*19 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1934 | chr9 | TogoVar | ||||||
NOXA1_chr9_137418393_137439406 | 137436380 | G | GCCCTCCC others(45): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG02109.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134 | 3 | 404 | 0.0074 | 52 | c.*20 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1975 | chr9 | TogoVar | ||||||
NOXA1_chr9_137418393_137439406 | 137436391 | T | TGCCGGAT others(45): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0131a0001c0001t0001g0135 | 3 | 404 | 0.0074 | 52 | c.*20 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 1986 | chr9 | TogoVar | ||||||
NOXA1_chr9_137418393_137439406 | 137436417 | G | GCCCATAC others(45): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02896.hp1 others(7): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0016a0005c0005others(2): Show | a0001c0001t0001a0001c0016t0003a0005c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0052a0001c0016t0003g0155others(4): Show | 10 | 404 | 0.0248 | 52 | c.*20 others(63): Show |
NOXA1 | ENSG00000188747.9 | transcript | ENST00000683555.1 | protein_coding | 2012 | chr9 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33308527 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 92 | 0.0109 | 52 | c.386 others(71): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33544827 | A | ATATATAA others(45): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0048 | 1 | 92 | 0.0109 | 52 | c.469 others(71): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPAS3_chr14_32933879_33809173 | 33544827 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 92 | 0.0109 | 52 | c.469 others(71): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NPBWR2_chr20_64098802_64112565 | 64105797 | G | GGGGTGAT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0006 | a0002c0006t0124 | a0002c0006t0124g0130 | 1 | 355 | 0.0028 | 52 | c.*32 others(59): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 32 | chr20 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5957487 | A | AAATGCAC others(45): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0010 | a0010c0022 | a0010c0022t0005 | a0010c0022t0005g0207 | 1 | 208 | 0.0048 | 52 | c.673 others(69): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5957487 | A | AAATGCAC others(45): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03710.hp2 |
a0001a0017 | a0001c0001a0017c0035 | a0001c0001t0001a0017c0035t0001 | a0001c0001t0001g0031a0017c0035t0001g0105 | 2 | 208 | 0.0096 | 52 | c.673 others(69): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 6/29 | chr1 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341366 | A | AAGGATGG others(45): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0024 | 2 | 40 | 0.0500 | 52 | c.-50 others(63): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4631 | chr16 | TogoVar | ||||||
NPIPA8_chr16_18312919_18341736 | 18341386 | G | GGGGATAA others(45): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02165.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0003 | 2 | 40 | 0.0500 | 52 | c.-50 others(63): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4651 | chr16 | TogoVar | ||||||
NPIPB7_chr16_28451329_28477336 | 28470625 | A | AAGGGGAG others(45): Show |
5_prime_UTR_variant | MODIFIER | NA18964.hp2 | a0015 | a0015c0018 | a0015c0018t0039 | a0015c0018t0039g0087 | 1 | 382 | 0.0026 | 52 | c.-18 others(61): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 1/7 | 188 | chr16 | TogoVar | |||||
NPLOC4_chr17_81551887_81642112 | 81639605 | G | GAAAAAAA others(45): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0232 | 1 | 344 | 0.0029 | 52 | c.-26 others(63): Show |
NPLOC4 | ENSG00000182446.15 | transcript | ENST00000331134.11 | protein_coding | 2494 | chr17 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34790840 | T | TATATGTT others(45): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01517.hp1 HG01934.hp1 others(26): Show |
a0001a0003a0006others(1): Show | a0001c0008a0003c0007a0006c0011others(1): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0003others(6): Show | a0001c0008t0001g0020a0001c0008t0001g0110a0001c0008t0001g0111others(26): Show | 29 | 260 | 0.1115 | 52 | c.384 others(71): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0002 | 2 | 260 | 0.0077 | 52 | c.384 others(71): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NRG3_chr10_81870194_82992178 | 82238911 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 66 | 0.0152 | 52 | c.824 others(73): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15031026 | T | TACACTCT others(45): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0115a0001c0001t0005g0129 | 2 | 398 | 0.0050 | 52 | c.-45 others(73): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150816 | C | CAAGAAAG others(45): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02056.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025 | a0001c0001t0001g0026a0001c0001t0002g0010a0001c0001t0002g0020others(4): Show | 8 | 406 | 0.0197 | 52 | c.*48 others(63): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3287 | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150861 | A | AAGAAAGA others(45): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0247 | 2 | 406 | 0.0049 | 52 | c.*49 others(63): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3332 | chr6 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24150881 | A | AAGAAAGA others(45): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0029 | 2 | 406 | 0.0049 | 52 | c.*49 others(63): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3352 | chr6 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50334209 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070 | 1 | 116 | 0.0086 | 52 | c.336 others(73): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50373679 | A | AAAGAAAG others(45): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0069 | 1 | 116 | 0.0086 | 52 | c.336 others(73): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50373690 | G | GGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0031 | 1 | 116 | 0.0086 | 52 | c.336 others(73): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0003 | a0001c0001t0029g0018a0001c0002t0003g0079 | 2 | 116 | 0.0172 | 52 | c.833 others(71): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79462860 | G | GTATGTAT others(45): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0007a0001c0001t0014g0004 | 2 | 24 | 0.0833 | 52 | c.326 others(71): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79540265 | T | TATAAATA others(45): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(12): Show | a0001c0001t0002g0018a0001c0001t0008g0008a0001c0001t0013g0007others(12): Show | 15 | 24 | 0.6250 | 52 | c.344 others(73): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | chr14 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158998 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0068 | a0001c0003t0068g0137 | 1 | 298 | 0.0034 | 52 | c.927 others(71): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSMCE1_chr16_27219994_27273772 | 27251189 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 334 | 0.0030 | 52 | c.136 others(69): Show |
NSMCE1 | ENSG00000169189.17 | transcript | ENST00000361439.9 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NT5C2_chr10_103083038_103198272 | 103129763 | G | GCCCCCCG others(45): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03834.hp2 NA18940.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(10): Show | 13 | 340 | 0.0382 | 52 | c.175 others(69): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132069600 | A | ACAAGTTA others(45): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 86 | 0.0116 | 52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132070879 | T | TCAGCCAA others(45): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0036a0001c0001t0001g0085a0001c0001t0001g0086others(12): Show | 15 | 86 | 0.1744 | 52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132070906 | C | CGTCACAG others(45): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01978.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0037a0001c0001t0001g0042others(9): Show | 12 | 86 | 0.1395 | 52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132071218 | C | CGTCACAG others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 86 | 0.0116 | 52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
NTRK1_chr1_156855865_156886850 | 156869018 | C | CCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18984.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0137a0001c0006t0001g0306 | 2 | 392 | 0.0051 | 52 | c.717 others(67): Show |
NTRK1 | ENSG00000198400.14 | transcript | ENST00000524377.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NTRK2_chr9_84664729_85032054 | 84870179 | C | CACATATA others(45): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0134 | 1 | 170 | 0.0059 | 52 | c.163 others(71): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NTSR1_chr20_62703836_62767771 | 62755221 | T | TTCTCTCC others(45): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0005others(4): Show | a0001c0001t0008a0001c0001t0015a0001c0001t0050others(13): Show | a0001c0001t0008g0167a0001c0001t0008g0292a0001c0001t0015g0179others(22): Show | 27 | 316 | 0.0854 | 52 | c.916 others(67): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTGTATAT others(45): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0039 | 1 | 360 | 0.0028 | 52 | c.273 others(71): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTGTGTAT others(45): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0142 | 1 | 360 | 0.0028 | 52 | c.273 others(71): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTGTGTGT others(45): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0212 | 1 | 360 | 0.0028 | 52 | c.273 others(71): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDT4_chr12_93372925_93413146 | 93382674 | C | CTTTTTTT others(45): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0266 | a0001c0002t0266g0254 | 1 | 414 | 0.0024 | 52 | c.99+ others(67): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUP210L_chr1_153987690_154160073 | 154125622 | A | AAAGGAAG others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01074.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0019others(13): Show | 16 | 290 | 0.0552 | 52 | c.132 others(69): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107204745 | A | ATTATTTA others(45): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01981.hp2 HG02735.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0009 | a0002c0002t0001g0230a0002c0002t0001g0232a0002c0002t0003g0231others(1): Show | 4 | 280 | 0.0143 | 52 | c.-92 others(69): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107204769 | A | ATTATTTA others(45): Show |
intron_variant | MODIFIER | NA18988.hp1 NA18990.hp1 NA19001.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226a0002c0002t0001g0227a0002c0002t0001g0228others(1): Show | 4 | 280 | 0.0143 | 52 | c.-92 others(69): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56740127 | A | ACCCCCCC others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02886.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0005a0001c0007t0012 | a0001c0004t0005g0020a0001c0004t0005g0035a0001c0007t0012g0346others(1): Show | 4 | 378 | 0.0106 | 52 | c.-14 others(69): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808471 | C | CTATATAA others(45): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0251a0001c0006t0009g0252a0001c0006t0009g0253 | 3 | 378 | 0.0079 | 52 | c.489 others(69): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUPR2_chr7_56109681_56121417 | 56115405 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0143 | 1 | 448 | 0.0022 | 52 | c.*7- others(65): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115625 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18747.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 448 | 0.0089 | 52 | c.*6+ others(65): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16736209 | T | TTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0282 | 1 | 300 | 0.0033 | 52 | c.82- others(65): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |