| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 149505344 | CCATGAAA others(4754): Show |
C | exon_loss_variant | HIGH | NA18984.hp1 | a0079 | a0079c0107 | a0079c0107t0001 | a0079c0107t0001g0059 | 1 | 276 | 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 |
a0030 | a0030c0034 | a0030c0034t0001 | a0030c0034t0001g0092a0030c0034t0001g0093 | 2 | 276 | 0.0073 | -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 | a0068 | a0068c0096 | a0068c0096t0010 | a0068c0096t0010g0090 | 1 | 276 | 0.0036 | -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 | a0064 | a0064c0094 | a0064c0094t0001 | a0064c0094t0001g0047 | 1 | 276 | 0.0036 | -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 | a0156 | a0156c0099 | a0156c0099t0001 | a0156c0099t0001g0013 | 1 | 276 | 0.0036 | -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 | a0187 | a0187c0050 | a0187c0050t0002 | a0187c0050t0002g0250 | 1 | 276 | 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 |
a0026a0113a0201others(1): Show | a0026c0030a0113c0134a0201c0063others(1): Show | a0026c0030t0001a0113c0134t0001a0201c0063t0002others(1): Show | a0026c0030t0001g0030a0026c0030t0001g0035a0113c0134t0001g0065others(2): Show | 5 | 276 | 0.0181 | -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 | a0133 | a0133c0165 | a0133c0165t0022 | a0133c0165t0022g0020 | 1 | 276 | 0.0036 | -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 |
a0049a0184 | a0049c0082a0184c0042 | a0049c0082t0011a0184c0042t0002 | a0049c0082t0011g0096a0184c0042t0002g0236 | 2 | 276 | 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 |
a0158a0183a0190others(1): Show | a0158c0084a0183c0041a0190c0049others(1): Show | a0158c0084t0001a0183c0041t0002a0190c0049t0002others(1): Show | a0158c0084t0001g0049a0183c0041t0002g0246a0190c0049t0002g0244others(1): Show | 4 | 276 | 0.0145 | -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 | a0188 | a0188c0051 | a0188c0051t0002 | a0188c0051t0002g0252 | 1 | 276 | 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 | a0100 | a0100c0145 | a0100c0145t0001 | a0100c0145t0001g0076 | 1 | 276 | 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 | a0166 | a0166c0198 | a0166c0198t0005 | a0166c0198t0005g0210 | 1 | 276 | 0.0036 | -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 | a0108 | a0108c0143 | a0108c0143t0001 | a0108c0143t0001g0027 | 1 | 276 | 0.0036 | -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 | a0150 | a0150c0160 | a0150c0160t0001 | a0150c0160t0001g0107 | 1 | 276 | 0.0036 | -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 | a0068 | a0068c0096 | a0068c0096t0010 | a0068c0096t0010g0090 | 1 | 276 | 0.0036 | -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 |
a0020a0067 | a0020c0020a0067c0095 | a0020c0020t0001a0020c0020t0010a0067c0095t0001 | a0020c0020t0001g0041a0020c0020t0010g0043a0067c0095t0001g0042 | 3 | 276 | 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 | a0189 | a0189c0052 | a0189c0052t0027 | a0189c0052t0027g0231 | 1 | 276 | 0.0036 | -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 | a0185 | a0185c0043 | a0185c0043t0002 | a0185c0043t0002g0247 | 1 | 276 | 0.0036 | -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 | a0177 | a0177c0075 | a0177c0075t0001 | a0177c0075t0001g0146 | 1 | 276 | 0.0036 | -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 | a0162 | a0162c0196 | a0162c0196t0005 | a0162c0196t0005g0213 | 1 | 276 | 0.0036 | -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 | a0161 | a0161c0197 | a0161c0197t0005 | a0161c0197t0005g0214 | 1 | 276 | 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 | a0210 | a0210c0068 | a0210c0068t0016 | a0210c0068t0016g0233 | 1 | 276 | 0.0036 | -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 |
a0012a0140a0141 | a0012c0009a0140c0175a0141c0182 | a0012c0009t0001a0140c0175t0001a0141c0182t0001 | a0012c0009t0001g0050a0012c0009t0001g0172a0012c0009t0001g0195others(2): Show | 5 | 276 | 0.0181 | -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 |
a0016a0047 | a0016c0017a0047c0216 | a0016c0017t0001a0047c0216t0001 | a0016c0017t0001g0028a0016c0017t0001g0029a0047c0216t0001g0068 | 3 | 276 | 0.0109 | -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 | a0116 | a0116c0150 | a0116c0150t0001 | a0116c0150t0001g0014 | 1 | 276 | 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(35): Show |
a0005a0010a0021others(26): Show | a0005c0004a0010c0007a0021c0022others(26): Show | a0005c0004t0001a0005c0004t0025a0010c0007t0001others(27): Show | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132others(34): Show | 38 | 276 | 0.1377 | -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 |
C | exon_loss_variant | HIGH | HG02965.hp1 | a0158 | a0158c0084 | a0158c0084t0001 | a0158c0084t0001g0049 | 1 | 276 | 0.0036 | -4737 | c.105 others(19): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 88/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149548199 | TCACTGGA others(3170): Show |
T | exon_loss_variant | HIGH | NA18984.hp2 | a0104 | a0104c0141 | a0104c0141t0001 | a0104c0141t0001g0123 | 1 | 276 | 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 | 145303161 | GTCCAGGT others(6357): Show |
G | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -6364 | c.139 others(19): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145305893 | CTCCCACG others(1577): Show |
C | exon_loss_variant | HIGH | HG01358.hp2 NA19085.hp1 |
a0005a0006 | a0005c0002a0006c0006 | a0005c0002t0001a0006c0006t0003 | a0005c0002t0001g0003a0006c0006t0003g0002 | 2 | 6 | 0.3333 | -1584 | c.143 others(11): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 124/143 | 15732/19578 | chr1 | TogoVar | |||||
| NBPF20_chr1_145285005_145430603 | 145354099 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.689 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 64/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145358846 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.616 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 58/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145363600 | TAAATGAT others(1566): Show |
T | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -1573 | c.543 others(17): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 52/143 | chr1 | TogoVar | ||||||
| NBPF20_chr1_145285005_145430603 | 145388342 | CACGCTGT others(4749): Show |
C | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -4756 | c.118 others(9): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 20/143 | 3039/19578 | 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 |
a0002 | a0002c0001a0002c0009a0002c0013others(7): Show | a0002c0001t0001a0002c0001t0009a0002c0001t0010others(21): Show | a0002c0001t0001g0005a0002c0001t0001g0119a0002c0001t0001g0121others(71): Show | 75 | 292 | 0.2569 | -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 | a0019 | a0019c0038 | a0019c0038t0003 | a0019c0038t0003g0260 | 1 | 292 | 0.0034 | -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 |
a0010 | a0010c0017 | a0010c0017t0004 | a0010c0017t0004g0226a0010c0017t0004g0227 | 2 | 292 | 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(95): Show |
a0003a0004a0005others(11): Show | a0003c0003a0004c0004a0004c0008others(14): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0039others(39): Show | a0003c0003t0002g0012a0003c0003t0002g0243a0003c0003t0002g0244others(91): Show | 98 | 344 | 0.2849 | -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 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0275 | 1 | 344 | 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 | a0022 | a0022c0035 | a0022c0035t0012 | a0022c0035t0012g0278 | 1 | 344 | 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 | a0030 | a0030c0039 | a0030c0039t0094 | a0030c0039t0094g0324 | 1 | 344 | 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 | a0029 | a0029c0038 | a0029c0038t0002 | a0029c0038t0002g0286 | 1 | 344 | 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 | 149072696 | ACAGGGCC others(6282): Show |
A | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0035 | a0035c0033 | a0035c0033t0013 | a0035c0033t0013g0311 | 1 | 344 | 0.0029 | -6289 | c.493 others(14): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 14/30 | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149081362 | CCCGCCTC others(1683): Show |
C | exon_loss_variant | HIGH | NA19005.hp2 | a0020 | a0020c0023 | a0020c0023t0075 | a0020c0023t0075g0225 | 1 | 344 | 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 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0121 | 1 | 402 | 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 | a0081 | a0081c0141 | a0081c0141t0001 | a0081c0141t0001g0092 | 1 | 188 | 0.0053 | -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 |
a0021a0054a0074others(1): Show | a0021c0056a0021c0057a0054c0104others(2): Show | a0021c0056t0001a0021c0057t0001a0054c0104t0001others(2): Show | a0021c0056t0001g0041a0021c0057t0001g0037a0054c0104t0001g0162others(2): Show | 5 | 188 | 0.0266 | -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 |
a0070a0071a0089others(1): Show | a0070c0123a0071c0124a0089c0036others(1): Show | a0070c0123t0001a0071c0124t0001a0089c0036t0001others(1): Show | a0070c0123t0001g0116a0071c0124t0001g0128a0089c0036t0001g0053others(1): Show | 4 | 188 | 0.0213 | -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 | a0012 | a0012c0022 | a0012c0022t0009 | a0012c0022t0009g0231 | 1 | 234 | 0.0043 | -25418 | c.201 others(19): Show |
NEK10 | ENSG00000163491.18 | transcript | ENST00000691995.1 | protein_coding | 23/36 | chr3 | TogoVar |