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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MACROD2_chr20_13990516_16058197 | 14955029 | T | TTATATTA others(88): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 24 | 0.0417 | 95 | c.418 others(116): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14955029 | T | TTATATTA others(88): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0010 | a0002c0002t0007g0013 a0002c0002t0010g0007 |
2 | 24 | 0.0833 | 95 | c.418 others(116): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14955029 | T | TTATATTA others(88): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01081.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(13): Show |
16 | 24 | 0.6667 | 95 | c.418 others(116): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14955041 | T | TAATTTAT others(88): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0004 a0001c0001t0012g0020 |
2 | 24 | 0.0833 | 95 | c.418 others(116): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930262 | C | CCCCGTCC others(88): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 264 | 0.0038 | 95 | c.180 others(114): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2161109 | G | GCCCCTCC others(88): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 264 | 0.0038 | 95 | c.987 others(114): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1330323 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0295 a0001c0001t0005g0007 |
2 | 388 | 0.0052 | 95 | c.657 others(112): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MALL_chr2_110078870_110120822 | 110115479 | T | TCTCGGTC others(88): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18992.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0042 | a0001c0001t0014g0294 a0001c0001t0014g0295 a0001c0001t0014g0297 others(1): Show |
4 | 335 | 0.0119 | 95 | c.105 others(110): Show |
MALL | ENSG00000144063.4 | transcript | ENST00000272462.3 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MAN1C1_chr1_25611791_25789450 | 25768267 | A | ATCCACAC others(88): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(230): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(229): Show |
233 | 250 | 0.9320 | 95 | c.114 others(114): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25768267 | A | ATCCACAC others(88): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0120 a0001c0002t0001g0206 a0001c0002t0001g0234 others(2): Show |
5 | 250 | 0.0200 | 95 | c.114 others(114): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25768267 | A | ATCCACAC others(88): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01168.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0007a0002c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0110 others(6): Show |
9 | 250 | 0.0360 | 95 | c.114 others(114): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6611558 | A | ATCTTTTC others(88): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0024 | a0024c0072 | a0024c0072t0028 | a0024c0072t0028g0131 | 1 | 362 | 0.0028 | 95 | c.256 others(112): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAPK11_chr22_50258713_50275380 | 50274662 | C | CTCCCCCA others(88): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 428 | 0.0023 | 95 | c.-43 others(106): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4283 | chr22 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54168883 | T | TTTCCTTT others(88): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 373 | 0.0027 | 95 | c.*51 others(106): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4531 | chr19 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84479390 | G | GCTAATGC others(88): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02809.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0103a0001c0001t0104a0002c0003t0042others(1): Show | a0001c0001t0103g0415 a0001c0001t0104g0341 a0002c0003t0042g0220 others(1): Show |
4 | 468 | 0.0086 | 95 | c.*42 others(104): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 8/8 | 522 | chr16 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84479554 | G | GGAATTCC others(88): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG03130.hp2 NA19240.hp1 |
a0003a0016 | a0003c0004a0016c0039 | a0003c0004t0052a0003c0004t0138a0016c0039t0052 | a0003c0004t0052g0337 a0003c0004t0138g0339 a0016c0039t0052g0340 |
3 | 468 | 0.0064 | 95 | c.*35 others(104): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 8/8 | 358 | chr16 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871777 | G | GGAGCGGG others(88): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 56 | 0.0179 | 95 | c.209 others(112): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090230 | A | ACACACCC others(88): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 399 | 0.0025 | 95 | c.557 others(112): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090485 | A | ACCCCCCG others(88): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 399 | 0.0025 | 95 | c.557 others(112): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430799 | C | CCCCCCCC others(88): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 344 | 0.0029 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430799 | C | CCCCCCCC others(88): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00639.hp1 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0002g0313 a0001c0001t0003g0212 a0001c0001t0003g0282 others(48): Show |
52 | 344 | 0.1512 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430799 | C | CCCCCCCC others(88): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0252 | 1 | 344 | 0.0029 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430864 | C | CGGACGGG others(88): Show |
intron_variant | MODIFIER | HG01099.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 a0002c0002t0001g0307 |
2 | 344 | 0.0058 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430864 | C | CGGACGGG others(88): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp1 others(90): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0005others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(85): Show |
93 | 344 | 0.2704 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFSD6_chr2_190403355_190507314 | 190430873 | C | CGGCCGGC others(88): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 344 | 0.0029 | 95 | c.-53 others(112): Show |
MFSD6 | ENSG00000151690.15 | transcript | ENST00000392328.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142048505 | C | CCCGTAAC others(88): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0203 | 1 | 316 | 0.0032 | 95 | c.258 others(112): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 22/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGA_chr15_41655405_41774940 | 41656344 | T | TTCTCTCT others(88): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0021 | a0021c0044 | a0021c0044t0001 | a0021c0044t0001g0184 | 1 | 292 | 0.0034 | 95 | c.-42 others(106): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 4060 | chr15 | TogoVar | |||||||
MIGA1_chr1_77774649_77884540 | 77871125 | G | GGGGGAGA others(88): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0251 | 1 | 280 | 0.0036 | 95 | c.146 others(114): Show |
MIGA1 | ENSG00000180488.17 | transcript | ENST00000370791.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432761 | A | AAGAGAAA others(88): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0188 | 1 | 250 | 0.0040 | 95 | c.225 others(112): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13764425 | G | GGGAACCC others(88): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 460 | 0.0022 | 95 | c.-16 others(104): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 96 | chr19 | TogoVar | |||||||
MROH2A_chr2_233773330_233838418 | 233788120 | A | ATAATACT others(88): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0194 | 1 | 378 | 0.0027 | 95 | c.277 others(112): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL3_chr3_131457212_131507971 | 131506014 | G | GATTATTG others(88): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 95 | c.-31 others(106): Show |
MRPL3 | ENSG00000114686.9 | transcript | ENST00000264995.8 | protein_coding | 3044 | chr3 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767761 | G | GGGGGCAC others(88): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0330 | 1 | 388 | 0.0026 | 95 | c.159 others(112): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767791 | G | GGCGTGGA others(88): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02897.hp2 |
a0001a0034 | a0001c0008a0034c0066 | a0001c0008t0001a0034c0066t0001 | a0001c0008t0001g0303 a0034c0066t0001g0179 |
2 | 388 | 0.0052 | 95 | c.159 others(112): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767934 | A | AGGAGGAG others(88): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0041 | a0041c0056 | a0041c0056t0001 | a0041c0056t0001g0183 | 1 | 388 | 0.0026 | 95 | c.159 others(112): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 226 | 0.0044 | 95 | c.212 others(116): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0220 | 1 | 226 | 0.0044 | 95 | c.212 others(116): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG02293.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0046 a0001c0002t0002g0101 a0001c0002t0003g0128 |
3 | 226 | 0.0133 | 95 | c.212 others(116): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD2_chr2_74193615_74222565 | 74203843 | C | CTAGTTTA others(88): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02300.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0201 others(2): Show |
5 | 414 | 0.0121 | 95 | c.102 others(112): Show |
MTHFD2 | ENSG00000065911.13 | transcript | ENST00000394053.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77193137 | T | TTGGTGAT others(88): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01255.hp2 |
a0010a0014a0022 | a0010c0089a0014c0107a0022c0093 | a0010c0089t0003a0014c0107t0003a0022c0093t0003 | a0010c0089t0003g0248 a0014c0107t0003g0218 a0022c0093t0003g0219 |
3 | 356 | 0.0084 | 95 | c.415 others(112): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192330 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01255.hp1 others(7): Show |
a0002 | a0002c0005a0002c0008a0002c0012 | a0002c0005t0004a0002c0008t0019a0002c0012t0006 | a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 others(7): Show |
10 | 170 | 0.0588 | 95 | c.166 others(114): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139314998 | C | CAGGTTAG others(88): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 334 | 0.0030 | 95 | c.54+ others(112): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139314998 | C | CAGTTCAG others(88): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 334 | 0.0030 | 95 | c.54+ others(112): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3469422 | C | CCAGCACT others(88): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0124 | 1 | 376 | 0.0027 | 95 | c.-6- others(110): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAA60_chr16_3438680_3491953 | 3469533 | A | ACCCGTCC others(88): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01515.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0014 | a0001c0002t0007g0011 a0001c0002t0007g0108 a0001c0002t0007g0112 others(14): Show |
18 | 376 | 0.0479 | 95 | c.-6- others(110): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174962379 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02922.hp2 |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0004a0005c0006t0020 | a0002c0003t0004g0046 a0005c0006t0020g0052 |
2 | 64 | 0.0313 | 95 | c.43+ others(114): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174962383 | T | TATATATG others(88): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0005 | a0003c0005t0023 | a0003c0005t0023g0045 | 1 | 64 | 0.0156 | 95 | c.43+ others(114): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331578 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0009 | 1 | 132 | 0.0076 | 95 | c.738 others(112): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504145 | A | ACCCCCGG others(88): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 384 | 0.0026 | 95 | c.-41 others(106): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4078 | chr22 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504145 | A | ACCCCCGG others(88): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG02257.hp1 HG02258.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0002g0162 others(4): Show |
8 | 384 | 0.0208 | 95 | c.-41 others(106): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4078 | chr22 | TogoVar |