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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NR1D2_chr3_23940286_23985617 | 23978087 | TTTTCTTA others(45): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0143 | 1 | 380 | 0.0026 | -52 | c.*67 others(61): Show |
NR1D2 | ENSG00000174738.13 | transcript | ENST00000312521.9 | protein_coding | 8/8 | 671 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
NTM_chr11_131365615_132341822 | 132069369 | AGGTTAGT others(45): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0017others(13): Show | 16 | 86 | 0.1861 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132069929 | CATCACAG others(45): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0017others(13): Show | 16 | 86 | 0.1861 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132070068 | AAGTTAAC others(45): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0085a0001c0001t0008g0070 | 2 | 86 | 0.0233 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132070899 | CACTGACC others(45): Show |
C | intron_variant | MODIFIER | HG03239.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0003g0006 | 2 | 86 | 0.0233 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132071062 | CGTCACAG others(45): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp1 HG01496.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0017others(17): Show | 20 | 86 | 0.2326 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132071091 | CCAGGTTA others(45): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0083 | 2 | 86 | 0.0233 | -52 | c.168 others(71): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTRK2_chr9_84664729_85032054 | 84870201 | TATACCTA others(45): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038a0001c0001t0059 | a0001c0001t0002g0021a0001c0001t0038g0158a0001c0001t0059g0001 | 3 | 170 | 0.0177 | -52 | c.163 others(71): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUDT21_chr16_56424133_56456332 | 56425717 | TGGGCCCG others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0227a0001c0002t0010g0228 | 2 | 414 | 0.0048 | -52 | c.*69 others(63): Show |
NUDT21 | ENSG00000167005.14 | transcript | ENST00000300291.10 | protein_coding | 3415 | chr16 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352453 | CACACATA others(45): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 322 | 0.0031 | -52 | c.126 others(69): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125622 | AAAGGAAG others(45): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0290 | 1 | 290 | 0.0035 | -52 | c.132 others(69): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP42_chr7_23177048_23206006 | 23187899 | CCTGGCCT others(45): Show |
C | intron_variant | MODIFIER | NA18981.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0168 | 2 | 364 | 0.0055 | -52 | c.445 others(67): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP62CL_chrX_107118427_107211433 | 107204793 | ATTATTTA others(45): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0265a0001c0001t0003g0266a0001c0001t0003g0267others(10): Show | 13 | 280 | 0.0464 | -52 | c.-92 others(69): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808304 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 378 | 0.0027 | -52 | c.489 others(69): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NXPH1_chr7_8428609_8757961 | 8743340 | AAAAAGAG others(45): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01074.hp2 HG01192.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0014others(25): Show | 28 | 208 | 0.1346 | -52 | c.55- others(67): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
OCA2_chr15_27749875_28104315 | 27913876 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG03669.hp2 |
a0001a0002 | a0001c0006a0002c0015 | a0001c0006t0001a0002c0015t0001 | a0001c0006t0001g0053a0002c0015t0001g0008 | 2 | 110 | 0.0182 | -52 | c.207 others(73): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 191810 | ACCCTAAC others(45): Show |
A | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 388 | 0.0026 | -52 | c.-52 others(63): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 4950 | chr11 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174163707 | AATAAATA others(45): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0135a0001c0001t0009g0159 | 2 | 262 | 0.0076 | -52 | c.374 others(71): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174163725 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017 | 1 | 262 | 0.0038 | -52 | c.374 others(71): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133458574 | CGTGTGTG others(45): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 68 | 0.0147 | -52 | c.61+ others(69): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OR10H5_chr19_15782661_15805357 | 15804788 | GAATCGCC others(45): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 396 | 0.0025 | -52 | c.*97 others(63): Show |
OR10H5 | ENSG00000172519.10 | transcript | ENST00000642092.2 | protein_coding | 4432 | chr19 | TogoVar | ||||||
OR4A5_chr11_54701832_54712902 | 54709033 | TGTGCATG others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 466 | 0.0022 | -52 | c.*12 others(63): Show |
OR4A5 | ENSG00000221840.4 | transcript | ENST00000319760.8 | protein_coding | 1132 | chr11 | TogoVar | ||||||
OR4E2_chr14_21648835_21672642 | 21657463 | CCTTCCTT others(45): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0016a0001c0002t0018 | a0001c0002t0004g0002a0001c0002t0004g0070a0001c0002t0004g0071others(5): Show | 18 | 458 | 0.0393 | -52 | c.-10 others(69): Show |
OR4E2 | ENSG00000221977.3 | transcript | ENST00000641524.1 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636349 | TCTCCCTC others(45): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0038 | a0002c0002t0004g0174a0002c0002t0038g0181 | 2 | 362 | 0.0055 | -52 | c.-27 others(69): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31898904 | ATATTCAA others(45): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG04204.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0005others(2): Show | a0001c0002t0001a0001c0002t0008a0001c0006t0002others(4): Show | a0001c0002t0001g0048a0001c0002t0008g0139a0001c0006t0002g0046others(5): Show | 8 | 186 | 0.0430 | -52 | c.282 others(71): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3112034 | TATGTGTG others(45): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0179a0001c0008t0015g0180 | 2 | 326 | 0.0061 | -52 | c.692 others(69): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 7/21 | chr11 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189742865 | GACACACA others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 358 | 0.0028 | -52 | c.*42 others(63): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 3794 | chr2 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128477 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0140a0001c0001t0004g0152a0001c0001t0004g0197others(1): Show | 4 | 366 | 0.0109 | -52 | c.132 others(67): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31510784 | TACATATG others(45): Show |
T | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 244 | 0.0041 | -52 | c.894 others(69): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3685986 | CCAGCCTG others(45): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 362 | 0.0055 | -52 | c.981 others(69): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699873 | GAAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 362 | 0.0028 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3719 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0252a0001c0001t0001g0290others(8): Show | 12 | 362 | 0.0332 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699881 | GGAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 362 | 0.0028 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3727 | chr17 | TogoVar | ||||||
P2RY2_chr11_73213281_73247427 | 73244193 | TCCTTTCC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 416 | 0.0024 | -52 | c.*89 others(63): Show |
P2RY2 | ENSG00000175591.12 | transcript | ENST00000393597.7 | protein_coding | 1767 | chr11 | TogoVar | ||||||
PABIR1_chr9_68775065_68790566 | 68779149 | GACTGAAT others(45): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 436 | 0.0023 | -52 | c.-10 others(62): Show |
PABIR1 | ENSG00000187866.10 | transcript | ENST00000394264.7 | protein_coding | 915 | chr9 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105356645 | CTGTTTCC others(45): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0028a0002c0002t0029 | a0002c0002t0028g0189a0002c0002t0029g0113 | 2 | 210 | 0.0095 | -52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PACS2_chr14_105309748_105403147 | 105356871 | TCAGGCGA others(45): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0020 | a0002c0005t0020g0178 | 1 | 210 | 0.0048 | -52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAH_chr12_102831889_102922244 | 102868126 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0015others(1): Show | a0001c0003t0003a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0003t0003g0291a0001c0004t0001g0103a0001c0004t0001g0141others(11): Show | 14 | 312 | 0.0449 | -52 | c.442 others(69): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355292 | CTTTCTTT others(45): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0023a0001c0001t0002g0122others(6): Show | 9 | 284 | 0.0317 | -52 | c.-11 others(71): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205380230 | GTAAAGAA others(45): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03453.hp1 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0004a0001c0008a0003c0010others(2): Show | a0001c0004t0002a0001c0008t0001a0003c0010t0006others(2): Show | a0001c0004t0002g0035a0001c0008t0001g0054a0003c0010t0006g0021others(2): Show | 5 | 54 | 0.0926 | -52 | c.263 others(73): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD6G_chr18_80152232_80252514 | 80184502 | GCAGAGGG others(45): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0226 | 1 | 382 | 0.0026 | -52 | c.295 others(71): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653860 | CTCCCTCC others(45): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0137 | 1 | 221 | 0.0045 | -52 | c.717 others(69): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PATL1_chr11_59631716_59674037 | 59672314 | ATATATAT others(45): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 276 | 0.0036 | -52 | c.-34 others(63): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3278 | chr11 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0112a0001c0001t0001g0113a0002c0005t0001g0037 | 3 | 360 | 0.0083 | -52 | c.-24 others(61): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771897 | AGAGAGAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0143a0001c0001t0001g0180 | 3 | 360 | 0.0083 | -52 | c.-28 others(61): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 143 | chr21 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125780370 | ACCCCACC others(45): Show |
A | intron_variant | MODIFIER | HG01346.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060a0001c0001t0002g0095 | 2 | 294 | 0.0068 | -52 | c.274 others(71): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45886286 | GCAGAGGA others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(161): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0012others(161): Show | 164 | 292 | 0.5616 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45886422 | TGCGGGTG others(45): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 292 | 0.0034 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45886600 | CGTGGTGA others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(259): Show | 262 | 292 | 0.8973 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45898308 | AGTCTCCC others(45): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG01943.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0003g0008a0001c0001t0003g0028a0001c0001t0003g0029others(42): Show | 45 | 292 | 0.1541 | -52 | c.166 others(69): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |