| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DAZ4_chrY_24828919_24912040 | 24888323 | GCTTCCCC others(4762): Show |
G | exon_loss_variant | HIGH | HG02071.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0030 | 1 | 41 | 0.0244 | -4769 | c.185 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149500408 | CTCTGTGT others(4762): Show |
C | exon_loss_variant | HIGH | NA19030.hp2 | a0090 | a0090c0121 | a0090c0121t0008 | a0090c0121t0008g0149 | 1 | 276 | 0.0036 | -4769 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CELA3B_chr1_21972022_21994354 | 21989588 | AAAAATGG others(4759): Show |
A | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 444 | 0.0023 | -4766 | c.*31 others(10): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 235 | chr1 | TogoVar | |||||||
| ULK4_chr3_41241599_41967103 | 41774415 | TATGAACA others(4755): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0006 | 1 | 72 | 0.0139 | -4762 | c.219 others(21): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 21/36 | chr3 | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146985553 | ATCAGCCT others(4754): Show |
A | exon_loss_variant | HIGH | HG02145.hp2 NA18947.hp2 |
a0014a0027 | a0014c0048a0027c0022 | a0014c0048t0009a0027c0022t0001 | a0014c0048t0009g0118 a0027c0022t0001g0043 |
2 | 122 | 0.0164 | -4761 | c.289 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| 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 | ||||||
| CLIC4_chr1_24740447_24849321 | 24751482 | ACCCGCTC others(4753): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 344 | 0.0029 | -4760 | c.72+ others(16): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DAZ2_chrY_23214533_23296356 | 23237719 | TAGACTTC others(4753): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -4760 | c.786 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149500412 | GTGTGTGT others(4752): Show |
G | exon_loss_variant | HIGH | HG02683.hp2 | a0126 | a0126c0130 | a0126c0130t0001 | a0126c0130t0001g0134 | 1 | 276 | 0.0036 | -4759 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DAZ3_chrY_24758069_24818393 | 24791258 | CCTCTGAC others(4751): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0011 | 1 | 45 | 0.0222 | -4758 | c.786 others(13): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 12/19 | chrY | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146988687 | CGACCAGC others(4751): Show |
C | exon_loss_variant | HIGH | HG00544.hp2 HG03130.hp2 |
a0030a0035 | a0030c0045a0035c0013 | a0030c0045t0012a0035c0013t0002 | a0030c0045t0012g0084 a0035c0013t0002g0100 |
2 | 122 | 0.0164 | -4758 | c.339 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NIM1K_chr5_43187225_43285850 | 43238210 | TTTTTTGT others(4751): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0066 a0001c0001t0002g0261 a0001c0001t0002g0262 others(6): Show |
9 | 292 | 0.0308 | -4758 | c.-69 others(19): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| TNFSF13B_chr13_108264718_108313478 | 108294702 | GATATCAG others(4751): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0069 others(26): Show |
29 | 384 | 0.0755 | -4758 | c.481 others(17): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 3/5 | chr13 | TogoVar | |||||||
| ANO6_chr12_45211095_45437349 | 45377477 | ATAGAAGC others(4750): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0163 | 1 | 234 | 0.0043 | -4757 | c.110 others(18): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| DAZ4_chrY_24828919_24912040 | 24871384 | CTTTTGTC others(4750): Show |
C | exon_loss_variant | HIGH | HG01074.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0028 |
2 | 41 | 0.0488 | -4757 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149492561 | CTCTCTCT others(4750): Show |
C | exon_loss_variant | HIGH | HG02647.hp2 NA19043.hp2 |
a0092a0177 | a0092c0120a0177c0075 | a0092c0120t0001a0177c0075t0001 | a0092c0120t0001g0141 a0177c0075t0001g0146 |
2 | 276 | 0.0073 | -4757 | c.177 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 16/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 79759196 | CAGAACTT others(4750): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004 | 1 | 24 | 0.0417 | -4757 | c.401 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| DAZ3_chrY_24758069_24818393 | 24782239 | TAGATGTT others(4749): Show |
T | exon_loss_variant | HIGH | NA19012.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 | 1 | 45 | 0.0222 | -4756 | c.100 others(18): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | |||||||
| DAZ3_chrY_24758069_24818393 | 24788154 | AAAAAAAA others(4749): Show |
A | exon_loss_variant | HIGH | HG01106.hp1 HG02647.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0004 a0004c0004t0001g0018 |
2 | 45 | 0.0444 | -4756 | c.858 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 13/19 | chrY | TogoVar | |||||||
| DAZ4_chrY_24828919_24912040 | 24871328 | CTTCTGGG others(4749): Show |
C | exon_loss_variant | HIGH | HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(5): Show |
8 | 41 | 0.1951 | -4756 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1398928 | CCTCGTCC others(4749): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02074.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0001a0001c0010t0025a0002c0001t0020others(2): Show | a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 others(2): Show |
5 | 40 | 0.1250 | -4756 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | 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 | ||||||
| GLT1D1_chr12_128848478_128989968 | 128963610 | CACTCCAG others(4747): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 320 | 0.0031 | -4754 | c.879 others(18): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | 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 | |||||
| USP17L7_chr8_12127417_12139099 | 12130647 | TATTTCCA others(4747): Show |
T | transcript_ablation | HIGH | HG04115.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 194 | 0.0052 | -4754 | c.-13 others(11): Show |
p.0? | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | chr8 | 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 | ||||||
| CR1L_chr1_207640133_207728703 | 207667717 | CAGAGTGA others(4745): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0002a0006a0018others(4): Show | a0002c0002a0006c0006a0018c0021others(4): Show | a0002c0002t0001a0006c0006t0001a0018c0021t0001others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0264 a0002c0002t0001g0267 others(7): Show |
12 | 346 | 0.0347 | -4752 | c.98- others(15): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | 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 | ||||||
| SYT14_chr1_209933217_210176315 | 210111289 | TGTCACAA others(4745): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0031a0001c0001t0040others(2): Show | a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 others(4): Show |
7 | 358 | 0.0196 | -4752 | c.116 others(21): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 6/8 | 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 | a0026c0030t0001g0030 a0026c0030t0001g0035 a0113c0134t0001g0065 others(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 | ||||||
| USP17L7_chr8_12127417_12139099 | 12132532 | TTCGTCGA others(4744): Show |
T | frameshift_variant others(1): Show |
HIGH | NA18981.hp2 | a0027 | a0027c0014 | a0027c0014t0000 | a0027c0014t0000g0000 | 1 | 194 | 0.0052 | -4751 | c.-32 others(10): Show |
p.Met others(3): Show |
USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1567/1683 | 1/1593 | 1/530 | chr8 | TogoVar | |||
| RC3H1_chr1_173926084_174027357 | 173994208 | ATGGTGAA others(4743): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0007 | a0001c0007t0030 | a0001c0007t0030g0078 a0001c0007t0030g0079 |
2 | 310 | 0.0065 | -4750 | c.-15 others(19): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
| DNAAF4_chr15_55425308_55513234 | 55455535 | GATTCTCC others(4741): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 338 | 0.0030 | -4748 | c.637 others(17): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
| ZNF675_chr19_23647801_23692212 | 23673828 | TAAAGTAT others(4741): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0241 a0001c0001t0001g0242 |
4 | 376 | 0.0106 | -4748 | c.3+8 others(14): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 1/3 | chr19 | 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 | ||||||
| NBPF14_chr1_148526385_148601011 | 148557087 | CAGAGAGA others(4736): Show |
C | exon_loss_variant | HIGH | HG04228.hp2 | a0085 | a0085c0075 | a0085c0075t0001 | a0085c0075t0001g0055 | 1 | 222 | 0.0045 | -4743 | c.427 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 40/71 | chr1 | TogoVar | |||||||
| HOPX_chr4_56642998_56686296 | 56673800 | GTTCAAGC others(4734): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
5 | 376 | 0.0133 | -4741 | c.-84 others(17): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
| USP17L2_chr8_12131435_12143849 | 12135283 | ATAGCATA others(4731): Show |
A | transcript_ablation | HIGH | HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 195 | 0.0821 | -4738 | c.-12 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | 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 | 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 | a0005c0004t0001g0056 a0005c0004t0001g0131 a0005c0004t0001g0132 others(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 | ||||||
| CSMD1_chr8_2930361_4999914 | 3928491 | TGGAACAG others(4727): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG02074.hp1 others(7): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0001c0049others(6): Show | a0001c0001t0002a0001c0003t0008a0001c0003t0013others(7): Show | a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 others(7): Show |
10 | 126 | 0.0794 | -4734 | c.818 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146114059 | CACACAGA others(4727): Show |
C | exon_loss_variant | HIGH | NA18994.hp2 | a0170 | a0170c0155 | a0170c0155t0003 | a0170c0155t0003g0180 | 1 | 283 | 0.0035 | -4734 | c.303 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/90 | 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 | ||||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4725): Show |
G | exon_loss_variant | HIGH | HG03688.hp2 | a0041 | a0041c0027 | a0041c0027t0014 | a0041c0027t0014g0242 | 1 | 283 | 0.0035 | -4732 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
| PDE6B_chr4_620573_675782 | 643743 | TTAGGCTT others(4725): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0266 a0005c0011t0001g0267 |
2 | 308 | 0.0065 | -4732 | c.711 others(17): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149524214 | GTGTGTGT others(4724): Show |
G | exon_loss_variant | HIGH | HG02738.hp1 NA18747.hp2 |
a0049a0184 | a0049c0082a0184c0042 | a0049c0082t0011a0184c0042t0002 | a0049c0082t0011g0096 a0184c0042t0002g0236 |
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 | 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 | ||||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4723): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 | a0190 | a0190c0209 | a0190c0209t0013 | a0190c0209t0013g0259 | 1 | 283 | 0.0035 | -4730 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146078508 | ATCCCAAT others(4723): Show |
A | exon_loss_variant | HIGH | NA19085.hp1 | a0174 | a0174c0221 | a0174c0221t0004 | a0174c0221t0004g0251 | 1 | 283 | 0.0035 | -4730 | c.861 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar |