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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NTRK2_chr9_84664729_85032054 | 84926157 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG03704.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0049 | a0001c0001t0004g0168 a0001c0001t0049g0096 |
2 | 170 | 0.0118 | -20 | c.163 others(39): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84926161 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0030 | 1 | 170 | 0.0059 | -20 | c.163 others(39): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK2_chr9_84664729_85032054 | 84926165 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0038 | a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0023g0095 others(1): Show |
4 | 170 | 0.0235 | -20 | c.163 others(39): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTRK3_chr15_87854751_88261739 | 87912927 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0008 | 1 | 134 | 0.0075 | -20 | c.213 others(41): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 17/19 | chr15 | TogoVar | |||||||
NTRK3_chr15_87854751_88261739 | 87954007 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0014a0001c0001t0020a0001c0002t0042others(3): Show | a0001c0001t0014g0021 a0001c0001t0014g0046 a0001c0001t0020g0002 others(5): Show |
8 | 134 | 0.0597 | -20 | c.158 others(41): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 14/19 | chr15 | TogoVar | |||||||
NTRK3_chr15_87854751_88261739 | 88033176 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0070 | a0001c0004t0070g0070 | 1 | 134 | 0.0075 | -20 | c.139 others(37): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 13/19 | chr15 | TogoVar | |||||||
NTRK3_chr15_87854751_88261739 | 88085625 | TGGGGGGT others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0021 | 1 | 134 | 0.0075 | -20 | c.139 others(41): Show |
NTRK3 | ENSG00000140538.17 | transcript | ENST00000629765.3 | protein_coding | 13/19 | chr15 | TogoVar | |||||||
NTSR1_chr20_62703836_62767771 | 62755118 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01081.hp1 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0008a0001c0001t0015a0001c0001t0018others(15): Show | a0001c0001t0008g0167 a0001c0001t0008g0292 a0001c0001t0008g0296 others(31): Show |
36 | 316 | 0.1139 | -20 | c.916 others(35): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62767670 | TGAAGGAA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02027.hp1 HG02027.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0149 others(7): Show |
10 | 316 | 0.0317 | -20 | c.*74 others(31): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 4900 | chr20 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879206 | CGTAAAAT others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0057 |
4 | 420 | 0.0095 | -20 | c.360 others(35): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879303 | TATGTATA others(13): Show |
T | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 420 | 0.0024 | -20 | c.360 others(35): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUBP1_chr16_10738842_10774351 | 10749120 | GACACATA others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 424 | 0.0047 | -20 | c.258 others(37): Show |
NUBP1 | ENSG00000103274.11 | transcript | ENST00000283027.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUBPL_chr14_31556404_31866224 | 31702041 | TAAGTTCA others(13): Show |
T | intron_variant | MODIFIER | NA18522.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0112 a0001c0001t0008g0113 |
2 | 268 | 0.0075 | -20 | c.513 others(39): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NUBPL_chr14_31556404_31866224 | 31788226 | CAGTAGTA others(13): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 268 | 0.0037 | -20 | c.607 others(35): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NUCB1_chr19_48895312_48928372 | 48903673 | AGTGGATG others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(73): Show |
78 | 398 | 0.1960 | -20 | c.136 others(35): Show |
NUCB1 | ENSG00000104805.17 | transcript | ENST00000405315.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NUCB2_chr11_17271739_17337211 | 17288880 | TATACACA others(13): Show |
T | intron_variant | MODIFIER | HG02273.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0044 | 1 | 360 | 0.0028 | -20 | c.-1+ others(35): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NUCB2_chr11_17271739_17337211 | 17288882 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 360 | 0.0028 | -20 | c.-1+ others(35): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NUCKS1_chr1_205707822_205755182 | 205708112 | CCGAGTAG others(13): Show |
C | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 368 | 0.0027 | -20 | c.*10 others(33): Show |
NUCKS1 | ENSG00000069275.13 | transcript | ENST00000367142.5 | protein_coding | 4709 | chr1 | TogoVar | |||||||
NUCKS1_chr1_205707822_205755182 | 205746443 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 2 | 368 | 0.0054 | -20 | c.17+ others(35): Show |
NUCKS1 | ENSG00000069275.13 | transcript | ENST00000367142.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
NUDCD3_chr7_44374119_44495658 | 44458936 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0210 a0002c0002t0004g0212 |
2 | 238 | 0.0084 | -20 | c.509 others(39): Show |
NUDCD3 | ENSG00000015676.18 | transcript | ENST00000355451.8 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
NUDT18_chr8_22101878_22114419 | 22111350 | CTGTGTGT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 400 | 0.0025 | -20 | c.-20 others(31): Show |
NUDT18 | ENSG00000275074.2 | transcript | ENST00000611621.2 | protein_coding | 1932 | chr8 | TogoVar | |||||||
NUDT19_chr19_32686821_32718792 | 32703648 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(20): Show |
a0001a0006 | a0001c0001a0006c0018 | a0001c0001t0008a0001c0001t0015a0001c0001t0022others(2): Show | a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0011 others(10): Show |
23 | 406 | 0.0567 | -20 | c.715 others(37): Show |
NUDT19 | ENSG00000213965.4 | transcript | ENST00000397061.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NUDT1_chr7_2237226_2256145 | 2238977 | TTATATAT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(9): Show |
17 | 414 | 0.0411 | -20 | c.-32 others(31): Show |
NUDT1 | ENSG00000106268.16 | transcript | ENST00000356714.6 | protein_coding | 3248 | chr7 | TogoVar | |||||||
NUDT21_chr16_56424133_56456332 | 56435743 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0099 a0001c0001t0004g0108 |
8 | 414 | 0.0193 | -20 | c.472 others(35): Show |
NUDT21 | ENSG00000167005.14 | transcript | ENST00000300291.10 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
NUDT2_chr9_34324569_34348699 | 34346400 | ATATATAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show |
13 | 436 | 0.0298 | -20 | c.*29 others(31): Show |
NUDT2 | ENSG00000164978.18 | transcript | ENST00000379158.7 | protein_coding | 2702 | chr9 | TogoVar | |||||||
NUDT3_chr6_34274679_34397669 | 34366473 | AAGGGAGG others(13): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0004 | 1 | 270 | 0.0037 | -20 | c.100 others(39): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUDT4B_chr1_148743774_148757415 | 148748888 | TGGCGGCG others(13): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01256.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(7): Show |
28 | 100 | 0.2800 | -20 | c.-52 others(27): Show |
NUDT4B | ENSG00000177144.8 | transcript | ENST00000322209.5 | protein_coding | 1/1 | 33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NUDT4_chr12_93372925_93413146 | 93375472 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03927.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041 | a0001c0001t0040g0315 a0001c0001t0041g0323 |
2 | 414 | 0.0048 | -20 | c.-28 others(31): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2452 | chr12 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93375474 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00733.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0018others(12): Show | a0001c0001t0004g0267 a0001c0001t0010g0334 a0001c0001t0018g0206 others(15): Show |
18 | 414 | 0.0435 | -20 | c.-28 others(31): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2450 | chr12 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93375476 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG03225.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(11): Show | a0001c0001t0004g0271 a0001c0001t0004g0309 a0001c0001t0007g0300 others(16): Show |
19 | 414 | 0.0459 | -20 | c.-28 others(31): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2448 | chr12 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93375478 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02622.hp1 NA18968.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0001t0010a0001c0001t0038others(5): Show | a0001c0001t0007g0296 a0001c0001t0010g0332 a0001c0001t0038g0031 others(5): Show |
8 | 414 | 0.0193 | -20 | c.-28 others(31): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2446 | chr12 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93375482 | TATAGAGA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02683.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0110a0001c0001t0150 | a0001c0001t0110g0165 a0001c0001t0150g0015 |
2 | 414 | 0.0048 | -20 | c.-28 others(31): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 2442 | chr12 | TogoVar | |||||||
NUDT5_chr10_12160330_12200891 | 12171687 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 394 | 0.0025 | -20 | c.488 others(35): Show |
NUDT5 | ENSG00000165609.14 | transcript | ENST00000491614.6 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
NUMA1_chr11_71997864_72085542 | 72040445 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01192.hp1 others(29): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0096 others(29): Show |
32 | 244 | 0.1312 | -20 | c.-32 others(37): Show |
NUMA1 | ENSG00000137497.19 | transcript | ENST00000393695.8 | protein_coding | 2/26 | chr11 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73299534 | TATATATG others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 322 | 0.0031 | -20 | c.235 others(37): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73352439 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02735.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0059 |
3 | 322 | 0.0093 | -20 | c.126 others(37): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73352475 | CACATATA others(13): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG04199.hp2 NA18978.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0005 | a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0156 others(1): Show |
4 | 322 | 0.0124 | -20 | c.126 others(37): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73398409 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 322 | 0.0031 | -20 | c.-10 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73440189 | AGATATCC others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(104): Show |
107 | 322 | 0.3323 | -20 | c.-23 others(41): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229435458 | GTCCCTCT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03041.hp2 HG03579.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 others(1): Show |
4 | 276 | 0.0145 | -20 | c.*64 others(31): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4800 | chr1 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229435461 | CCTCTCTC others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0165 |
2 | 276 | 0.0073 | -20 | c.*64 others(31): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4797 | chr1 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229440201 | TGAAGACT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02451.hp1 |
a0003 | a0003c0011 | a0003c0011t0009 | a0003c0011t0009g0138 a0003c0011t0009g0139 |
2 | 276 | 0.0073 | -20 | c.*16 others(31): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 57 | chr1 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47782303 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02293.hp1 HG03471.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0007c0010t0001 | a0001c0001t0001g0139 a0001c0001t0001g0245 a0001c0001t0001g0267 others(3): Show |
6 | 338 | 0.0178 | -20 | c.401 others(37): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 34/35 | chr11 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47793722 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 338 | 0.0030 | -20 | c.318 others(37): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 27/35 | chr11 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47806790 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01099.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0165 others(7): Show |
10 | 338 | 0.0296 | -20 | c.234 others(37): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47850823 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0181 a0001c0001t0001g0184 others(4): Show |
7 | 338 | 0.0207 | -20 | c.-25 others(31): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2474 | chr11 | TogoVar | |||||||
NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01106.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0145 a0001c0002t0001g0228 a0001c0002t0001g0229 others(21): Show |
24 | 352 | 0.0682 | -20 | c.29- others(35): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135567124 | GTGTGTAT others(13): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0129 |
2 | 352 | 0.0057 | -20 | c.29- others(35): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154055123 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0018 a0001c0001t0001g0217 a0001c0008t0001g0224 |
3 | 290 | 0.0103 | -20 | c.324 others(37): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 23/39 | chr1 | TogoVar | |||||||
NUP210L_chr1_153987690_154160073 | 154125622 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01123.hp1 HG01255.hp2 others(7): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0010 | a0001c0001t0001a0002c0002t0001a0014c0010t0001 | a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0127 others(7): Show |
10 | 290 | 0.0345 | -20 | c.132 others(37): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar |