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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 174879036 | AGCTTTTC others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03486.hp2 |
a0001a0002 | a0001c0013a0002c0003 | a0001c0013t0013a0002c0003t0002 | a0001c0013t0013g0018 a0002c0003t0002g0017 |
2 | 64 | 0.0313 | -15 | c.43+ others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174885876 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0008 | a0004c0008t0010 | a0004c0008t0010g0036 | 1 | 64 | 0.0156 | -15 | c.43+ others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174894594 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0059 | 1 | 64 | 0.0156 | -15 | c.43+ others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174953294 | GCCTCCCC others(8): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01261.hp1 others(9): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0007a0004c0002others(6): Show | a0001c0001t0002a0001c0001t0035a0002c0007t0001others(9): Show | a0001c0001t0002g0032 a0001c0001t0035g0027 a0002c0007t0001g0064 others(9): Show |
12 | 64 | 0.1875 | -15 | c.43+ others(32): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175199860 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0043 | 1 | 64 | 0.0156 | -15 | c.546 others(34): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175373411 | ATGTAGTA others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0019 | 1 | 64 | 0.0156 | -15 | c.109 others(36): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175655695 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0003a0001c0001t0030a0001c0001t0037others(14): Show | a0001c0001t0003g0015 a0001c0001t0030g0030 a0001c0001t0037g0038 others(14): Show |
17 | 64 | 0.2656 | -15 | c.189 others(36): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175749170 | GGGAGGAG others(8): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01261.hp1 others(6): Show |
a0001a0004a0006others(3): Show | a0001c0001a0004c0002a0006c0010others(4): Show | a0001c0001t0031a0004c0002t0008a0004c0002t0021others(6): Show | a0001c0001t0031g0026 a0004c0002t0008g0006 a0004c0002t0021g0003 others(6): Show |
9 | 64 | 0.1406 | -15 | c.199 others(34): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAB2_chr12_57084114_57100476 | 57090170 | GAGGAAGC others(8): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 396 | 0.0025 | -15 | c.83+ others(28): Show |
NAB2 | ENSG00000166886.13 | transcript | ENST00000300131.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NABP2_chr12_56219342_56234854 | 56233264 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 412 | 0.0024 | -15 | c.*40 others(26): Show |
NABP2 | ENSG00000139579.13 | transcript | ENST00000267023.9 | protein_coding | 3411 | chr12 | TogoVar | |||||||
NACAD_chr7_45075437_45093969 | 45076695 | CAGCGTGT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0069 | a0069c0060 | a0069c0060t0001 | a0069c0060t0001g0060 | 1 | 410 | 0.0024 | -15 | c.*37 others(26): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 3741 | chr7 | TogoVar | |||||||
NACC1_chr19_13113264_13146147 | 13127371 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03654.hp1 HG03834.hp2 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0134 |
5 | 326 | 0.0153 | -15 | c.-8- others(30): Show |
NACC1 | ENSG00000160877.7 | transcript | ENST00000292431.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136024474 | CGTGTGAG others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 NA20805.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0064 a0001c0003t0005g0165 |
2 | 348 | 0.0058 | -15 | c.887 others(32): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136024522 | TGTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0009 | a0001c0009t0037 | a0001c0009t0037g0343 | 1 | 348 | 0.0029 | -15 | c.887 others(32): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136024532 | TGGACAGT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 NA18940.hp1 |
a0001 | a0001c0005a0001c0014 | a0001c0005t0002a0001c0005t0070a0001c0014t0002 | a0001c0005t0002g0277 a0001c0005t0070g0311 a0001c0014t0002g0321 |
3 | 348 | 0.0086 | -15 | c.887 others(32): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136062114 | AGACAGGA others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(7): Show | a0001c0001t0001g0195 a0001c0001t0008g0113 a0001c0001t0021g0170 others(8): Show |
11 | 348 | 0.0316 | -15 | c.-59 others(34): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136064600 | ATTATTAA others(8): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0204 | 1 | 348 | 0.0029 | -15 | c.-59 others(34): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NADK_chr1_1746232_1783470 | 1766410 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02897.hp1 NA18984.hp2 NA19002.hp2 others(1): Show |
a0002a0003 | a0002c0005a0003c0003a0003c0016 | a0002c0005t0005a0003c0003t0002a0003c0016t0002 | a0002c0005t0005g0297 a0003c0003t0002g0241 a0003c0003t0002g0348 others(1): Show |
4 | 414 | 0.0097 | -15 | c.-40 others(30): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
NAE1_chr16_66797878_66835976 | 66831656 | GTGTTTTG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(216): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(144): Show |
219 | 376 | 0.5825 | -15 | c.-77 others(24): Show |
NAE1 | ENSG00000159593.15 | transcript | ENST00000290810.8 | protein_coding | 681 | chr16 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057889 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 418 | 0.0024 | -15 | c.*23 others(26): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 444 | chr22 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057891 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01496.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0006g0009 others(1): Show |
4 | 418 | 0.0096 | -15 | c.*23 others(26): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 442 | chr22 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057893 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0020 |
5 | 418 | 0.0120 | -15 | c.*23 others(26): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 440 | chr22 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057895 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG03453.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0004 a0001c0001t0006g0009 a0001c0001t0006g0047 |
3 | 418 | 0.0072 | -15 | c.*23 others(26): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 438 | chr22 | TogoVar | |||||||
NAGA_chr22_42053334_42075812 | 42057901 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0095 a0001c0002t0009g0096 |
2 | 418 | 0.0048 | -15 | c.*23 others(26): Show |
NAGA | ENSG00000198951.12 | transcript | ENST00000396398.8 | protein_coding | 432 | chr22 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081034 | ATTTATTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01099.hp2 others(17): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0013 | a0001c0001t0001a0001c0003t0001a0009c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0003t0001g0005 others(5): Show |
20 | 442 | 0.0453 | -15 | c.*25 others(26): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1227 | chr2 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101117755 | TCCATTCT others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0169 | 1 | 176 | 0.0057 | -15 | c.219 others(34): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 18/43 | chr13 | TogoVar | |||||||
NALCN_chr13_101048776_101421508 | 101276062 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA19043.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0002 | a0001c0001t0001g0084 a0001c0001t0018g0009 a0001c0002t0002g0036 |
3 | 176 | 0.0171 | -15 | c.113 others(34): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 10/43 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107337043 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0038 | 1 | 128 | 0.0078 | -15 | c.916 others(36): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NALF1_chr13_107158510_107872496 | 107384253 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 128 | 0.0078 | -15 | c.916 others(36): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
NAMPT_chr7_106243298_106289983 | 106267840 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0057 a0001c0001t0001g0275 others(3): Show |
7 | 336 | 0.0208 | -15 | c.743 others(30): Show |
NAMPT | ENSG00000105835.13 | transcript | ENST00000222553.8 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
NANOGNB_chr12_7760216_7779121 | 7764486 | AAATAATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(159): Show |
253 | 460 | 0.5500 | -15 | c.-79 others(24): Show |
NANOGNB | ENSG00000205857.2 | transcript | ENST00000382119.1 | protein_coding | 729 | chr12 | TogoVar | |||||||
NANOS3_chr19_13872134_13885757 | 13873264 | TGGGTGGG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0021 a0001c0002t0002g0002 |
2 | 380 | 0.0053 | -15 | c.-39 others(26): Show |
NANOS3 | ENSG00000187556.8 | transcript | ENST00000339133.6 | protein_coding | 3869 | chr19 | TogoVar | |||||||
NANS_chr9_98051732_98088077 | 98073271 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 318 | 0.0031 | -15 | c.349 others(32): Show |
NANS | ENSG00000095380.11 | transcript | ENST00000210444.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NAP1L5_chr4_88690913_88702829 | 88699095 | CTCCTCAC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 414 | 0.0024 | -15 | c.-13 others(26): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1267 | chr4 | TogoVar | |||||||
NAPA_chr19_47482637_47520063 | 47509289 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(60): Show |
97 | 338 | 0.2870 | -15 | c.98+ others(30): Show |
NAPA | ENSG00000105402.8 | transcript | ENST00000263354.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NAPEPLD_chr7_103094776_103154099 | 103141237 | GTTGTTTT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 381 | 0.0026 | -15 | c.-17 others(32): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
NAPG_chr18_10521027_10557764 | 10530188 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0014 a0002c0002t0007g0047 |
8 | 424 | 0.0189 | -15 | c.57- others(28): Show |
NAPG | ENSG00000134265.13 | transcript | ENST00000322897.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NARS1_chr18_57595656_57626836 | 57600619 | AAGAGATG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 420 | 0.0024 | -15 | c.*10 others(26): Show |
NARS1 | ENSG00000134440.12 | transcript | ENST00000256854.10 | protein_coding | 36 | chr18 | TogoVar | |||||||
NARS2_chr11_78430968_78579864 | 78475580 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG03927.hp1 HG04184.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0003 | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0010g0116 others(1): Show |
4 | 294 | 0.0136 | -15 | c.959 others(32): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 9/13 | chr11 | TogoVar | |||||||
NAT10_chr11_34100629_34151908 | 34129599 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0005t0004g0006 others(4): Show |
8 | 262 | 0.0305 | -15 | c.124 others(34): Show |
NAT10 | ENSG00000135372.10 | transcript | ENST00000257829.8 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19818231 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0095 | 1 | 166 | 0.0060 | -15 | c.268 others(34): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19945153 | CTCCCTTC others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00735.hp2 others(11): Show |
a0001a0002a0004others(3): Show | a0001c0024a0001c0032a0002c0002others(11): Show | a0001c0024t0001a0001c0032t0001a0002c0002t0004others(11): Show | a0001c0024t0001g0047 a0001c0032t0001g0078 a0002c0002t0004g0029 others(11): Show |
14 | 166 | 0.0843 | -15 | c.214 others(34): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20122939 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0070 | a0001c0070t0022 | a0001c0070t0022g0108 | 1 | 166 | 0.0060 | -15 | c.*46 others(26): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1339 | chr11 | TogoVar | |||||||
NAV3_chr12_77825894_78218010 | 78144933 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0003 | a0003c0022 | a0003c0022t0007 | a0003c0022t0007g0078 | 1 | 186 | 0.0054 | -15 | c.468 others(34): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 20/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NAV3_chr12_77825894_78218010 | 78199212 | ATGGGAAC others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(127): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0125 others(127): Show |
130 | 186 | 0.6989 | -15 | c.651 others(32): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 36/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15229347 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19054.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0076 | 1 | 224 | 0.0045 | -15 | c.623 others(34): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 47/51 | chr2 | TogoVar | |||||||
NBEAL1_chr2_203009875_203230194 | 203039211 | TTTCCTTT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0005 | 1 | 292 | 0.0034 | -15 | c.52- others(30): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEAL1_chr2_203009875_203230194 | 203039216 | TTTCCCTT others(8): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02970.hp2 HG03579.hp1 others(4): Show |
a0001a0016 | a0001c0001a0016c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0204 a0001c0001t0001g0245 a0001c0001t0002g0151 others(4): Show |
7 | 292 | 0.0240 | -15 | c.52- others(30): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35150793 | TTAGAGTA others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02976.hp2 others(2): Show |
a0001a0003a0004 | a0001c0003a0003c0026a0004c0008 | a0001c0003t0001a0003c0026t0001a0004c0008t0001 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0003c0026t0001g0119 others(2): Show |
5 | 122 | 0.0410 | -15 | c.244 others(34): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 18/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NBEA_chr13_34937270_35677736 | 35236406 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG02257.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0014others(6): Show | a0001c0001t0020a0001c0003t0018a0001c0014t0001others(7): Show | a0001c0001t0020g0090 a0001c0003t0018g0006 a0001c0014t0001g0120 others(9): Show |
12 | 122 | 0.0984 | -15 | c.577 others(34): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 34/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |