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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NME8_chr7_37843597_37905397 | 37848181 | AAGAAGAA others(39): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0049 | 1 | 388 | 0.0026 | -46 | c.-78 others(55): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 415 | chr7 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183389806 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 258 | 0.0039 | -46 | c.85+ others(63): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMRK2_chr19_3928069_3947416 | 3937233 | GTTTCAGC others(39): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18954.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0194 | 1 | 404 | 0.0025 | -46 | c.118 others(55): Show |
p.Pro others(4): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/8 | 118/693 | 40/230 | chr19 | TogoVar | ||||
NMRK2_chr19_3928069_3947416 | 3937320 | ATCCCCCG others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(264): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(169): Show |
267 | 404 | 0.6609 | -46 | c.166 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937465 | GGGGTCCG others(39): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00741.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0158 a0001c0001t0001g0185 others(8): Show |
12 | 404 | 0.0297 | -46 | c.166 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3937733 | TCCCCCGG others(39): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00741.hp1 others(7): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0001c0001t0002a0011c0010t0002 | a0001c0001t0001g0081 a0001c0001t0002g0022 a0001c0001t0002g0059 others(6): Show |
10 | 404 | 0.0248 | -46 | c.166 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3938000 | CTCCACTG others(39): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 404 | 0.0050 | -46 | c.167 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3938022 | GCCCTCCT others(39): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0062 |
3 | 404 | 0.0074 | -46 | c.167 others(61): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32488770 | CCTTCCTT others(39): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0127 a0001c0001t0004g0196 |
2 | 196 | 0.0102 | -46 | c.700 others(65): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOTCH3_chr19_15154038_15205995 | 15173732 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001a0020 | a0001c0001a0001c0009a0020c0058 | a0001c0001t0001a0001c0009t0001a0020c0058t0001 | a0001c0001t0001g0035 a0001c0001t0001g0221 a0001c0001t0001g0246 others(3): Show |
6 | 340 | 0.0177 | -46 | c.473 others(63): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 25/32 | chr19 | TogoVar | |||||||
NOVA2_chr19_45928734_45978865 | 45950281 | CCTGAATA others(39): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 402 | 0.0025 | -46 | c.396 others(63): Show |
NOVA2 | ENSG00000104967.8 | transcript | ENST00000263257.6 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33543957 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0057 | 1 | 92 | 0.0109 | -46 | c.469 others(65): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPFFR2_chr4_72027000_72153305 | 72030492 | TTTTAGTG others(39): Show |
T | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 344 | 0.0029 | -46 | c.-17 others(57): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1507 | chr4 | TogoVar | |||||||
NR1H2_chr19_50371457_50388388 | 50375352 | GGTGATCT others(39): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 4 | 374 | 0.0107 | -46 | c.-13 others(57): Show |
NR1H2 | ENSG00000131408.15 | transcript | ENST00000253727.10 | protein_coding | 1104 | chr19 | TogoVar | |||||||
NR4A3_chr9_99816885_99871891 | 99866121 | CATTAATT others(39): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0076 | 1 | 278 | 0.0036 | -46 | c.*22 others(57): Show |
NR4A3 | ENSG00000119508.18 | transcript | ENST00000395097.7 | protein_coding | 8/8 | 2257 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NRF1_chr7_129606720_129762076 | 129761283 | AACCATTC others(39): Show |
A | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 384 | 0.0026 | -46 | c.*61 others(57): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4208 | chr7 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50329605 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0062 | 1 | 116 | 0.0086 | -46 | c.336 others(67): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79754503 | GATATATA others(39): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0011 | 1 | 24 | 0.0417 | -46 | c.401 others(67): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSL1_chr1_212721153_212796777 | 212725034 | CGCCCCGT others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02895.hp1 others(3): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0025a0002c0002t0093a0002c0002t0094others(1): Show | a0002c0002t0025g0118 a0002c0002t0025g0119 a0002c0002t0025g0120 others(3): Show |
6 | 364 | 0.0165 | -46 | c.*13 others(59): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 1118 | chr1 | TogoVar | |||||||
NTNG2_chr9_132157058_132249526 | 132174071 | CGGACAGA others(39): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0050a0001c0001t0051a0001c0002t0049 | a0001c0001t0050g0237 a0001c0001t0051g0236 a0001c0002t0049g0238 |
3 | 358 | 0.0084 | -46 | c.213 others(63): Show |
NTNG2 | ENSG00000196358.12 | transcript | ENST00000393229.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352473 | CACACATA others(39): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 a0001c0001t0002g0249 a0001c0001t0002g0253 |
3 | 322 | 0.0093 | -46 | c.126 others(63): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUP85_chr17_75200679_75240758 | 75212228 | GGTTTTTT others(39): Show |
G | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0194 | 1 | 276 | 0.0036 | -46 | c.361 others(61): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 4/18 | chr17 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56842086 | CTAATTTC others(39): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 378 | 0.0027 | -46 | c.234 others(63): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 806106 | ACTGCAGC others(39): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 242 | 0.0041 | -46 | c.821 others(61): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 806142 | GCTCCCCA others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00673.hp1 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show |
51 | 242 | 0.2107 | -46 | c.821 others(61): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174163707 | AATAAATA others(39): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0056 | 1 | 262 | 0.0038 | -46 | c.374 others(65): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 132687369 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0006g0037 a0001c0001t0017g0052 a0001c0001t0019g0051 others(1): Show |
4 | 68 | 0.0588 | -46 | c.147 others(65): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64094413 | GGGGGCAG others(39): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0018 | 1 | 66 | 0.0152 | -46 | c.233 others(63): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR10G3_chr14_21563520_21585076 | 21576848 | AACCATCT others(39): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0109 | 1 | 442 | 0.0023 | -46 | c.-18 others(63): Show |
OR10G3 | ENSG00000169208.3 | transcript | ENST00000641040.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR14A16_chr1_247809660_247829119 | 247825927 | TGTATATA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG03516.hp1 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0014 | 3 | 342 | 0.0088 | -46 | c.-21 others(57): Show |
OR14A16 | ENSG00000196772.5 | transcript | ENST00000641093.1 | protein_coding | 1809 | chr1 | TogoVar | |||||||
OR1A1_chr17_3202667_3223896 | 3221593 | TATATATT others(39): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02622.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0009 | 6 | 434 | 0.0138 | -46 | c.*50 others(57): Show |
OR1A1 | ENSG00000172146.4 | transcript | ENST00000641732.2 | protein_coding | 2698 | chr17 | TogoVar | |||||||
OR2B11_chr1_247444182_247463104 | 247461426 | GCTTGGTG others(39): Show |
G | upstream_gene_variant | MODIFIER | NA19054.hp1 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0056 | 1 | 478 | 0.0021 | -46 | c.-69 others(57): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 3323 | chr1 | TogoVar | |||||||
OR2C3_chr1_247519677_247541440 | 247522226 | CAGCCGCC others(39): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00738.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0016others(10): Show | a0001c0001t0007g0009 a0001c0001t0007g0046 a0001c0001t0007g0064 others(16): Show |
41 | 460 | 0.0891 | -46 | c.*92 others(57): Show |
OR2C3 | ENSG00000196242.10 | transcript | ENST00000641802.1 | protein_coding | 2450 | chr1 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213407 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0004a0004c0007t0034 | a0001c0001t0004g0001 a0004c0007t0034g0032 |
4 | 410 | 0.0098 | -46 | c.*94 others(57): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 483 | chr1 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213489 | ATATATGT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02148.hp2 HG02451.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0011 | a0001c0001t0001a0001c0001t0017a0001c0009t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0017g0001 a0001c0009t0001g0001 others(1): Show |
5 | 410 | 0.0122 | -46 | c.*94 others(57): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 565 | chr1 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22084716 | CATATATA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 50 | 0.1000 | -46 | c.*31 others(57): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3107 | chr15 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22084724 | TGTATATA others(39): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 1 | 50 | 0.0200 | -46 | c.*31 others(57): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3115 | chr15 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636355 | TCTCCCTC others(39): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 a0002c0002t0002g0212 |
2 | 362 | 0.0055 | -46 | c.-27 others(63): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812772 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG02109.hp1 |
a0001a0002a0003 | a0001c0002a0002c0004a0003c0021 | a0001c0002t0001a0002c0004t0001a0003c0021t0002 | a0001c0002t0001g0035 a0002c0004t0001g0109 a0003c0021t0002g0013 |
3 | 186 | 0.0161 | -46 | c.729 others(65): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812801 | AGAAAGAA others(39): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02922.hp2 NA19074.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0002 | a0001c0001t0001g0022 a0001c0001t0001g0090 a0002c0005t0002g0026 |
3 | 186 | 0.0161 | -46 | c.729 others(65): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128481 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG02129.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003a0001c0003t0019 | a0001c0001t0002g0133 a0001c0003t0003g0029 a0001c0003t0003g0041 others(1): Show |
4 | 366 | 0.0109 | -46 | c.132 others(61): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128535 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0005g0269 a0001c0001t0007g0051 a0001c0001t0009g0049 others(1): Show |
4 | 366 | 0.0109 | -46 | c.132 others(61): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510540 | TGTATATC others(39): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG04115.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0034 a0002c0003t0003g0076 |
2 | 244 | 0.0082 | -46 | c.894 others(63): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106405141 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0046 others(16): Show |
19 | 172 | 0.1105 | -46 | c.23+ others(63): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106405158 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0087 others(24): Show |
27 | 172 | 0.1570 | -46 | c.23+ others(63): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189966086 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0092 | 1 | 304 | 0.0033 | -46 | c.189 others(65): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134788100 | CACGTTAT others(39): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 217 | 0.0046 | -46 | c.435 others(61): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
PACS2_chr14_105309748_105403147 | 105346590 | CCCTGCAC others(39): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 210 | 0.0048 | -46 | c.120 others(63): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105346770 | TCCCCCCA others(39): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001a0010 | a0001c0001a0001c0020a0010c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(50): Show |
54 | 210 | 0.2571 | -46 | c.120 others(63): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172372 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0004 | 1 | 432 | 0.0023 | -46 | c.*46 others(57): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1328 | chr11 | TogoVar |