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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MMP17_chr12_131823393_131856771 | 131824321 | GGGCCACC others(28): Show |
G | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 396 | 0.0025 | -35 | c.-41 others(46): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 4071 | chr12 | TogoVar | |||||||
MPO_chr17_58264855_58285935 | 58285768 | ATCCCTCA others(28): Show |
A | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 354 | 0.0028 | -35 | c.-50 others(46): Show |
MPO | ENSG00000005381.9 | transcript | ENST00000225275.4 | protein_coding | 4834 | chr17 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43512750 | CAGCAGCA others(28): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0213 | 1 | 248 | 0.0040 | -35 | c.*71 others(46): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4903 | chr22 | TogoVar | |||||||
MROH2A_chr2_233773330_233838418 | 233787561 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01258.hp2 others(24): Show |
a0001a0002a0003others(16): Show | a0001c0027a0002c0016a0002c0044others(20): Show | a0001c0027t0001a0002c0016t0001a0002c0044t0001others(20): Show | a0001c0027t0001g0104 a0002c0016t0001g0173 a0002c0044t0001g0144 others(23): Show |
27 | 376 | 0.0718 | -35 | c.277 others(52): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233787596 | TTATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01261.hp2 |
a0004 | a0004c0007a0004c0036 | a0004c0007t0001a0004c0036t0001 | a0004c0007t0001g0113 a0004c0036t0001g0112 |
2 | 109 | 0.0183 | -35 | c.277 others(52): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | |||||||
MRPL45_chr17_38292168_38328211 | 38313314 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 | 1 | 285 | 0.0035 | -35 | c.462 others(52): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
MRPL53_chr2_74466982_74477680 | 74476679 | GGGTTTGT others(28): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -35 | c.-40 others(46): Show |
MRPL53 | ENSG00000204822.7 | transcript | ENST00000258105.8 | protein_coding | 4000 | chr2 | TogoVar | |||||||
MRPS36_chr5_69212760_69235158 | 69220249 | TAGAGCTT others(28): Show |
T | intron_variant | MODIFIER | HG01433.hp2 NA18949.hp2 NA18970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 |
3 | 408 | 0.0074 | -35 | c.42+ others(50): Show |
MRPS36 | ENSG00000134056.12 | transcript | ENST00000256441.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MS4A3_chr11_60051665_60076115 | 60075908 | CTGGTACA others(28): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 406 | 0.0025 | -35 | c.*56 others(46): Show |
MS4A3 | ENSG00000149516.15 | transcript | ENST00000278865.8 | protein_coding | 4794 | chr11 | TogoVar | |||||||
MS4A5_chr11_60424572_60452792 | 60441299 | GGATAGCA others(28): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(108): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(44): Show |
111 | 460 | 0.2413 | -35 | c.493 others(52): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461941 | TCTTTTCT others(28): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369 | 1 | 367 | 0.0027 | -35 | c.138 others(54): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461946 | TCTTTTCT others(28): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 362 | 0.0028 | -35 | c.138 others(54): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461951 | TCTTTTCT others(28): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(1): Show |
4 | 364 | 0.0110 | -35 | c.138 others(54): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 768173 | AGGAAGGG others(28): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0269 | 1 | 386 | 0.0026 | -35 | c.159 others(52): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769183 | CCCCGGCC others(28): Show |
C | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0330 | 1 | 386 | 0.0026 | -35 | c.*45 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 322 | chr16 | TogoVar | |||||||
MT3_chr16_56584528_56596085 | 56595923 | ACTTACCA others(28): Show |
A | downstream_gene_variant | MODIFIER | HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 436 | 0.0046 | -35 | c.*49 others(46): Show |
MT3 | ENSG00000087250.9 | transcript | ENST00000200691.5 | protein_coding | 4839 | chr16 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682250 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 368 | 0.0027 | -35 | c.484 others(52): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25832383 | AGACACTT others(28): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0032 | 1 | 400 | 0.0025 | -35 | c.*35 others(44): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 7/7 | 358 | chr1 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65662050 | TCTCCCTC others(28): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03098.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 |
3 | 346 | 0.0087 | -35 | c.-80 others(52): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTMR6_chr13_25241222_25292488 | 25288878 | ATATATAT others(28): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 NA19240.hp2 |
a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0252 a0005c0006t0015g0264 |
2 | 339 | 0.0059 | -35 | c.-16 others(46): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1391 | chr13 | TogoVar | |||||||
MTNR1A_chr4_186528655_186560567 | 186547344 | TCCTCACA others(28): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02451.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0003t0001g0057 others(2): Show |
5 | 393 | 0.0127 | -35 | c.184 others(52): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195749032 | ATCTGAAG others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01192.hp2 | a0038 | a0038c0161 | a0038c0161t0015 | a0038c0161t0015g0234 | 1 | 248 | 0.0040 | -35 | c.158 others(48): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 24/25 | 16015/16756 | 15872/16239 | 5291/5412 | chr3 | TogoVar | |||
MUC5AC_chr11_1152953_1206138 | 1166112 | TGAGACCC others(28): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG01169.hp2 |
a0012 | a0012c0020 | a0012c0020t0002 | a0012c0020t0002g0009 | 3 | 290 | 0.0103 | -35 | c.138 others(52): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 11/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1166181 | GTGAGACC others(28): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03195.hp2 |
a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0008 | 3 | 290 | 0.0103 | -35 | c.138 others(52): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 11/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1167190 | CGATGAGA others(28): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG02922.hp1 |
a0020a0047 | a0020c0040a0020c0041a0047c0042 | a0020c0040t0003a0020c0041t0002a0047c0042t0001 | a0020c0040t0003g0199 a0020c0041t0002g0197 a0047c0042t0001g0198 |
3 | 290 | 0.0103 | -35 | c.138 others(52): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 11/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701670 | ATTTTATT others(28): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0286 | 1 | 323 | 0.0031 | -35 | c.628 others(52): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701685 | CTTTACTT others(28): Show |
C | intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0226 | 1 | 257 | 0.0039 | -35 | c.628 others(52): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77066829 | TTACTGGC others(28): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 332 | 0.0030 | -35 | c.124 others(54): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 71/82 | chr13 | TogoVar | |||||||
MYCT1_chr6_152692897_152729569 | 152703940 | TTTTTATT others(28): Show |
T | intron_variant | MODIFIER | HG01255.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0065 a0001c0001t0003g0083 |
2 | 92 | 0.0217 | -35 | c.196 others(52): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10323779 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0120 | 1 | 310 | 0.0032 | -35 | c.293 others(52): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 23/40 | chr17 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384606 | AAAAAAAT others(28): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02602.hp2 HG03942.hp2 |
a0001a0004 | a0001c0001a0004c0016 | a0001c0001t0001a0001c0001t0004a0004c0016t0001 | a0001c0001t0001g0209 a0001c0001t0004g0211 a0004c0016t0001g0208 |
3 | 236 | 0.0127 | -35 | c.-20 others(52): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16840695 | CAATATGC others(28): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 270 | 0.0037 | -35 | c.121 others(54): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 2/40 | chr5 | TogoVar | |||||||
MYO6_chr6_75744239_75924537 | 75768326 | CATTTTAT others(28): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0334 | 1 | 13 | 0.0769 | -35 | c.-48 others(54): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2236781 | CTTCTTCT others(28): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0079 a0001c0002t0001g0046 a0001c0002t0002g0047 others(2): Show |
5 | 40 | 0.1250 | -35 | c.-42 others(56): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64212189 | GGGGGCCA others(28): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 192 | 0.0052 | -35 | c.151 others(50): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64230218 | TAACTCAG others(28): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0131 | 1 | 222 | 0.0045 | -35 | c.267 others(54): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688370 | AATATGTG others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0078 a0001c0003t0006g0116 a0001c0003t0006g0119 |
3 | 280 | 0.0107 | -35 | c.*38 others(46): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3007 | chr15 | TogoVar | |||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01109.hp2 others(88): Show |
a0001a0004a0005 | a0001c0001a0004c0008a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0212 a0001c0001t0003g0002 a0001c0001t0003g0004 others(88): Show |
91 | 92 | 0.9891 | -35 | c.144 others(54): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175199840 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 61 | 0.0164 | -35 | c.546 others(54): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAGK_chr2_71063648_71084808 | 71081034 | ATTTATTT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(63): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0016 a0001c0001t0003g0001 a0001c0001t0003g0013 others(17): Show |
66 | 166 | 0.3976 | -35 | c.*25 others(46): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1227 | chr2 | TogoVar | |||||||
NAGS_chr17_43999622_44014068 | 44013309 | GATCATTC others(28): Show |
G | downstream_gene_variant | MODIFIER | NA18957.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0001 | 1 | 378 | 0.0026 | -35 | c.*47 others(46): Show |
NAGS | ENSG00000161653.11 | transcript | ENST00000293404.8 | protein_coding | 4242 | chr17 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101167699 | TTGGTGGT others(28): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01081.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0006 a0001c0001t0005g0022 a0001c0001t0006g0033 others(19): Show |
22 | 174 | 0.1264 | -35 | c.183 others(54): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 15/43 | chr13 | TogoVar | |||||||
NAT2_chr8_18386282_18406218 | 18387824 | TTGATGAG others(28): Show |
T | upstream_gene_variant | MODIFIER | NA18994.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0059 |
2 | 406 | 0.0049 | -35 | c.-35 others(46): Show |
NAT2 | ENSG00000156006.5 | transcript | ENST00000286479.4 | protein_coding | 3457 | chr8 | TogoVar | |||||||
NAV1_chr1_201534127_201831969 | 201756794 | CTCTTTCT others(28): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0082 | 1 | 131 | 0.0076 | -35 | c.208 others(56): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 77961022 | ACATGTAT others(28): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0012 | 1 | 184 | 0.0054 | -35 | c.415 others(52): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 78190598 | TGTTGGAT others(28): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0186 | 1 | 184 | 0.0054 | -35 | c.629 others(52): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBEAL2_chr3_46974666_47014701 | 46989204 | GCAGGGAG others(28): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0074 | 1 | 358 | 0.0028 | -35 | c.351 others(48): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 4/53 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NBPF15_chr1_144416390_144466669 | 144442131 | GTATATAT others(28): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0012 a0001c0001t0012g0208 |
3 | 10 | 0.3000 | -35 | c.-19 others(54): Show |
NBPF15 | ENSG00000266338.7 | transcript | ENST00000581897.7 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50520246 | ATCTTATT others(28): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0006 | 1 | 382 | 0.0026 | -35 | c.862 others(50): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NCMAP_chr1_24551087_24614328 | 24604604 | AAATATAT others(28): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 367 | 0.0027 | -35 | c.168 others(51): Show |
NCMAP | ENSG00000184454.7 | transcript | ENST00000374392.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |