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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF19_chr1_149470045_149561361 | 149500412 | GTGTGTGT others(4752): Show |
G | exon_loss_variant | HIGH | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 269 | 0.0037 | -4759 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149505222 | CATCTGTC others(28500): Show |
C | exon_loss_variant | HIGH | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 247 | 0.0040 | -28507 | c.368 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 32/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149505344 | CCATGAAA others(4754): Show |
C | exon_loss_variant | HIGH | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 274 | 0.0036 | -4761 | c.396 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 34/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149508424 | CTCTACCT others(9508): Show |
C | exon_loss_variant | HIGH | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 272 | 0.0074 | -9515 | c.426 others(9): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/94 | 5051/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149513834 | AGATTTCC others(4747): Show |
A | exon_loss_variant | HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 262 | 0.0038 | -4754 | c.513 others(9): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 44/94 | 5921/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149514741 | ATCTGTCT others(4745): Show |
A | exon_loss_variant | HIGH | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 273 | 0.0037 | -4752 | c.532 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 45/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149515512 | TAGAAATC others(33208): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0050 | a0050c0040 | a0050c0040t0001 | a0050c0040t0001g0028 | 1 | 268 | 0.0037 | -33215 | c.532 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 45/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149519461 | GTGTGTGT others(9477): Show |
G | exon_loss_variant | HIGH | NA18612.hp2 | a0020 | a0020c0018 | a0020c0018t0002 | a0020c0018t0002g0225 | 1 | 274 | 0.0036 | -9484 | c.588 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 50/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149521269 | CGGTTTCT others(4744): Show |
C | exon_loss_variant | HIGH | HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show |
a0001a0002a0044 | a0001c0001a0002c0002a0044c0032 | a0001c0001t0001a0002c0002t0002a0044c0032t0002 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0045 others(2): Show |
5 | 234 | 0.0214 | -4751 | c.633 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524200 | CTGTGTGT others(4740): Show |
C | exon_loss_variant | HIGH | HG02622.hp1 | a0036 | a0036c0043 | a0036c0043t0022 | a0036c0043t0022g0035 | 1 | 96 | 0.0104 | -4747 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524214 | GTGTGTGT others(4724): Show |
G | exon_loss_variant | HIGH | HG02738.hp1 NA18747.hp2 |
a0002a0039 | a0002c0002a0039c0035 | a0002c0002t0002a0039c0035t0011 | a0002c0002t0002g0215 a0039c0035t0011g0088 |
2 | 274 | 0.0073 | -4731 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524216 | GTGTGTGT others(4722): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 NA18954.hp2 NA18962.hp2 others(1): Show |
a0015a0024a0040others(1): Show | a0015c0010a0024c0019a0040c0038others(1): Show | a0015c0010t0002a0024c0019t0002a0040c0038t0001others(1): Show | a0015c0010t0002g0022 a0024c0019t0002g0224 a0040c0038t0001g0055 others(1): Show |
4 | 273 | 0.0147 | -4729 | c.678 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 57/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524220 | GTGTGTGT others(4718): Show |
G | exon_loss_variant | HIGH | NA18963.hp2 | a0015 | a0015c0010 | a0015c0010t0002 | a0015c0010t0002g0227 | 1 | 274 | 0.0036 | -4725 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524222 | GTGTGTGT others(4716): Show |
G | exon_loss_variant | HIGH | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 274 | 0.0036 | -4723 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149533019 | ACCAGAAT others(18975): Show |
A | exon_loss_variant | HIGH | HG03942.hp2 | a0041 | a0041c0049 | a0041c0049t0005 | a0041c0049t0005g0189 | 1 | 266 | 0.0038 | -18982 | c.807 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 68/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149533842 | CTATGCTA others(9481): Show |
C | exon_loss_variant | HIGH | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 263 | 0.0038 | -9488 | c.825 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 69/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149534502 | TAGAAATC others(9481): Show |
T | exon_loss_variant | HIGH | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 240 | 0.0042 | -9488 | c.836 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 70/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149535108 | ACGTACCA others(14218): Show |
A | exon_loss_variant | HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 234 | 0.0043 | -14225 | c.836 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 70/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149536375 | TTAGACAG others(9477): Show |
T | exon_loss_variant | HIGH | HG01074.hp2 HG03831.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0010g0051 |
3 | 274 | 0.0109 | -9484 | c.858 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 72/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149537774 | ACCAGAAT others(4746): Show |
A | exon_loss_variant | HIGH | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0212 | 1 | 264 | 0.0038 | -4753 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149537774 | ACCAGAAT others(9483): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0047 | a0047c0031 | a0047c0031t0002 | a0047c0031t0002g0222 | 1 | 264 | 0.0038 | -9490 | c.881 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538290 | GCACATTT others(9483): Show |
G | exon_loss_variant | HIGH | NA19043.hp2 | a0049 | a0049c0033 | a0049c0033t0001 | a0049c0033t0001g0132 | 1 | 272 | 0.0037 | -9490 | c.881 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538465 | GTGTGTGT others(4726): Show |
G | exon_loss_variant | HIGH | HG01516.hp1 | a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0192 | 1 | 272 | 0.0037 | -4733 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538467 | GTGTGTGT others(4724): Show |
G | exon_loss_variant | HIGH | HG00735.hp2 | a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0193 | 1 | 274 | 0.0036 | -4731 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538593 | CTATGCTA others(4730): Show |
C | exon_loss_variant | HIGH | HG01952.hp2 | a0005 | a0005c0005 | a0005c0005t0016 | a0005c0005t0016g0208 | 1 | 222 | 0.0045 | -4737 | c.909 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 76/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538593 | CTATGCTA others(9467): Show |
C | exon_loss_variant | HIGH | HG00438.hp1 HG00558.hp1 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0001g0156 others(1): Show |
5 | 226 | 0.0221 | -9474 | c.898 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 75/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149539999 | CAGTGTCC others(9467): Show |
C | exon_loss_variant | HIGH | HG01934.hp2 HG03239.hp2 HG04199.hp2 |
a0004 | a0004c0004a0004c0017 | a0004c0004t0001a0004c0017t0001 | a0004c0004t0001g0001 a0004c0017t0001g0067 |
3 | 92 | 0.0326 | -9474 | c.971 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 81/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149543210 | GTGTGTCT others(4706): Show |
G | exon_loss_variant | HIGH | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 274 | 0.0036 | -4713 | c.954 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 80/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(34): Show |
a0001a0023a0028 | a0001c0001a0023c0024a0028c0039 | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(30): Show |
37 | 256 | 0.1445 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149545859 | CTAGACAG others(4730): Show |
T | exon_loss_variant | HIGH | HG02965.hp1 | a0040 | a0040c0038 | a0040c0038t0001 | a0040c0038t0001g0055 | 1 | 55 | 0.0182 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | chr1 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149548199 | TCACTGGA others(3170): Show |
T | exon_loss_variant | HIGH | NA18984.hp2 | a0045 | a0045c0042 | a0045c0042t0001 | a0045c0042t0001g0113 | 1 | 274 | 0.0036 | -3177 | c.103 others(11): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 87/94 | 11130/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF20_chr1_145285005_145430603 | 145305893 | CTCCCACG others(1577): Show |
C | exon_loss_variant | HIGH | HG01358.hp2 NA19085.hp1 |
a0003a0004 | a0003c0002a0004c0006 | a0003c0002t0001a0004c0006t0003 | a0003c0002t0001g0003 a0004c0006t0003g0002 |
2 | 4 | 0.5000 | -1584 | c.143 others(11): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/143 | 15732/19578 | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0001 | a0001c0002a0001c0009a0001c0013others(7): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(21): Show | a0001c0002t0001g0006 a0001c0002t0001g0119 a0001c0002t0001g0121 others(71): Show |
75 | 290 | 0.2586 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF8_chr1_120410035_120474676 | 120436644 | GATGTTTT others(6346): Show |
G | exon_loss_variant | HIGH | HG02071.hp2 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0265 | 1 | 289 | 0.0035 | -6353 | c.493 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120440166 | ATGCTTTT others(12626): Show |
A | exon_loss_variant | HIGH | HG03491.hp2 HG03492.hp1 |
a0004 | a0004c0015 | a0004c0015t0004 | a0004c0015t0004g0226 a0004c0015t0004g0227 |
2 | 290 | 0.0069 | -12633 | c.493 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058873 | CCTATCTG others(3161): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(94): Show |
a0003a0004a0010others(5): Show | a0003c0003a0003c0027a0004c0004others(11): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0035others(33): Show | a0003c0003t0002g0005 a0003c0003t0002g0233 a0003c0003t0002g0235 others(88): Show |
97 | 342 | 0.2836 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | |||||||
NBPF9_chr1_149047186_149108551 | 149058885 | ACCAGGTG others(3162): Show |
A | exon_loss_variant | HIGH | NA19030.hp1 | a0012 | a0012c0015 | a0012c0015t0002 | a0012c0015t0002g0247 | 1 | 342 | 0.0029 | -3169 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | |||||||
NBPF9_chr1_149047186_149108551 | 149058935 | AAGAGCCA others(3160): Show |
A | exon_loss_variant | HIGH | HG02015.hp2 | a0019 | a0019c0028 | a0019c0028t0012 | a0019c0028t0012g0250 | 1 | 342 | 0.0029 | -3167 | c.224 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3840/7899 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058946 | CAAGGTAC others(3157): Show |
C | exon_loss_variant | HIGH | HG03942.hp1 | a0012 | a0012c0015 | a0012c0015t0086 | a0012c0015t0086g0313 | 1 | 342 | 0.0029 | -3164 | c.223 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3829/7899 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149058986 | GGGCTGGC others(3160): Show |
G | exon_loss_variant | HIGH | HG01175.hp1 | a0012 | a0012c0015 | a0012c0015t0002 | a0012c0015t0002g0258 | 1 | 341 | 0.0029 | -3167 | c.219 others(9): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 25/30 | 3789/7899 | chr1 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149081362 | CCCGCCTC others(1683): Show |
C | exon_loss_variant | HIGH | NA19005.hp2 | a0024 | a0024c0021 | a0024c0021t0068 | a0024c0021t0068g0217 | 1 | 342 | 0.0029 | -1690 | c.-19 others(16): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 7/30 | chr1 | TogoVar | |||||||
NDUFA7_chr19_8306284_8326375 | 8310729 | CTGGGTAT others(3934): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00621.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0101 | 1 | 400 | 0.0025 | -3941 | c.251 others(13): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151584872 | GTTTGTTT others(21093): Show |
G | exon_loss_variant | HIGH | NA18747.hp1 | a0099 | a0099c0141 | a0099c0141t0001 | a0099c0141t0001g0092 | 1 | 186 | 0.0054 | -21100 | c.127 others(19): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 100/182 | chr2 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151593635 | TCCTGCCC others(10546): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG02735.hp1 HG03491.hp2 others(2): Show |
a0022a0033a0105others(1): Show | a0022c0056a0022c0057a0033c0065others(2): Show | a0022c0056t0001a0022c0057t0001a0033c0065t0001others(2): Show | a0022c0056t0001g0042 a0022c0057t0001g0035 a0033c0065t0001g0068 others(2): Show |
5 | 112 | 0.0446 | -10553 | c.130 others(19): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 93/182 | chr2 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151598359 | CAAAAAAA others(10547): Show |
C | exon_loss_variant | HIGH | NA18966.hp2 NA18984.hp1 NA19000.hp1 others(1): Show |
a0028a0114a0124 | a0028c0123a0028c0124a0114c0053others(1): Show | a0028c0123t0001a0028c0124t0001a0114c0053t0001others(1): Show | a0028c0123t0001g0123 a0028c0124t0001g0125 a0114c0053t0001g0086 others(1): Show |
4 | 95 | 0.0421 | -10554 | c.123 others(19): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 89/182 | chr2 | TogoVar | |||||||
NEK10_chr3_27101484_27374383 | 27250812 | TTGTTTCT others(25411): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01884.hp2 | a0013 | a0013c0021 | a0013c0021t0009 | a0013c0021t0009g0231 | 1 | 232 | 0.0043 | -25418 | c.201 others(19): Show |
NEK10 | ENSG00000163491.18 | transcript | ENST00000691995.1 | protein_coding | 23/36 | chr3 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54965622 | ATTTTTTG others(1084): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00558.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0020 | 1 | 428 | 0.0023 | -1091 | c.-84 others(12): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 56019729 | CAGTAATT others(1026): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
a0014 | a0014c0096a0014c0128a0014c0129others(1): Show | a0014c0096t0001a0014c0128t0001a0014c0129t0003others(1): Show | a0014c0096t0001g0106 a0014c0128t0001g0102 a0014c0129t0003g0308 others(1): Show |
4 | 391 | 0.0102 | -1033 | c.622 others(15): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NME1_chr17_51148559_51167168 | 51150779 | GCAGTGAG others(6791): Show |
G | exon_loss_variant | HIGH | HG03195.hp2 | a0004 | a0004c0006 | a0004c0006t0012 | a0004c0006t0012g0022 | 1 | 382 | 0.0026 | -6798 | c.-28 others(14): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74383653 | TGCCTGTA others(13455): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG01943.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0119 a0002c0002t0008g0122 a0002c0002t0008g0127 |
3 | 260 | 0.0115 | -13462 | c.250 others(14): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 4/8 | chr16 | TogoVar |