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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACBD4_chr17_45130687_45149176 | 45145334 | CAGCAGGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG02258.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0111 a0002c0002t0001g0010 a0002c0002t0001g0013 others(6): Show |
25 | 450 | 0.0556 | -40 | c.*17 others(51): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 1159 | chr17 | TogoVar | |||||||
ACER2_chr9_19404009_19457505 | 19433981 | TGGCTGCC others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0123 | 1 | 356 | 0.0028 | -40 | c.366 others(55): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACHE_chr7_100884994_100900888 | 100899738 | AGTGCAGT others(33): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 412 | 0.0024 | -40 | c.-39 others(51): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 3851 | chr7 | TogoVar | |||||||
ACKR3_chr2_236564825_236587354 | 236583864 | TCTGCAGG others(33): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 392 | 0.0026 | -40 | c.*23 others(51): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 1511 | chr2 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41865493 | TGCGCCGC others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(209): Show |
212 | 243 | 0.8724 | -40 | c.*22 others(51): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1424 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956939 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0049 | a0001c0001t0029g0332 a0001c0001t0049g0013 |
2 | 341 | 0.0059 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956941 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0051 | a0001c0001t0050g0011 a0001c0001t0051g0014 |
2 | 340 | 0.0059 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956943 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0331 | 1 | 340 | 0.0029 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956947 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0232 | 1 | 332 | 0.0030 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956949 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG02015.hp2 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0197 |
2 | 339 | 0.0059 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75956951 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 317 | 0.0032 | -40 | c.538 others(55): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58510683 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0235 | 1 | 350 | 0.0029 | -40 | c.185 others(59): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 13/14 | chr3 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78218791 | AGACGGAG others(33): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(131): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(22): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0048 others(128): Show |
134 | 348 | 0.3851 | -40 | c.132 others(59): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112375323 | ATGTCCAA others(33): Show |
A | intron_variant | MODIFIER | HG02293.hp2 NA18948.hp1 NA18953.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0157 others(7): Show |
12 | 362 | 0.0331 | -40 | c.-30 others(57): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20635580 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(71): Show |
a0001a0003a0006 | a0001c0003a0001c0007a0003c0006others(1): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0005others(3): Show | a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0033 others(71): Show |
74 | 98 | 0.7551 | -40 | c.129 others(59): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81154703 | AGCAGGGG others(33): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 288 | 0.0035 | -40 | c.109 others(59): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTC1_chr15_34785230_34800549 | 34797713 | AAAGGGAA others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 494 | 0.0020 | -40 | c.-22 others(51): Show |
ACTC1 | ENSG00000159251.9 | transcript | ENST00000290378.6 | protein_coding | 2165 | chr15 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673538 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0274 | 1 | 307 | 0.0033 | -40 | c.162 others(59): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38730086 | GAACCAAA others(33): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0085 | 1 | 312 | 0.0032 | -40 | c.*67 others(49): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 21/21 | 671 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38735670 | CGCGGGGC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp2 others(27): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0101 a0001c0001t0002g0105 others(27): Show |
30 | 297 | 0.1010 | -40 | c.*62 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4082 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735797 | CGGGGCGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0030 | a0001c0002t0001g0034 a0001c0002t0030g0046 |
2 | 290 | 0.0069 | -40 | c.*63 others(51): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4209 | chr19 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(33): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0076 a0001c0002t0001g0124 a0001c0002t0002g0084 others(3): Show |
6 | 31 | 0.1935 | -40 | c.-18 others(59): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACACACA others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0083 | a0001c0002t0083g0001 | 1 | 136 | 0.0074 | -40 | c.*94 others(51): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9433 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01175.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0004g0184 a0001c0001t0004g0245 a0001c0002t0002g0047 others(4): Show |
7 | 241 | 0.0290 | -40 | c.404 others(59): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTGTA others(33): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0060 a0001c0002t0003g0109 a0001c0002t0003g0110 others(1): Show |
4 | 101 | 0.0396 | -40 | c.404 others(59): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133264989 | TTCCTGCT others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 384 | 0.0026 | -40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133265257 | GCCACGCC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(316): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0007others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(133): Show |
319 | 368 | 0.8668 | -40 | c.232 others(59): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8611229 | GAGGGGCT others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01978.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0258 a0001c0002t0001g0135 |
2 | 382 | 0.0052 | -40 | c.-84 others(49): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 515 | chr19 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100339564 | CCCACATT others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0017others(23): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(35): Show | a0001c0002t0002g0063 a0001c0002t0004g0148 a0001c0002t0005g0158 others(39): Show |
42 | 60 | 0.7000 | -40 | c.450 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134759 | TCCAGCTC others(33): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0024 | a0024c0045 | a0024c0045t0003 | a0024c0045t0003g0177 | 1 | 272 | 0.0037 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134776 | TCCCCCAG others(33): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0042 | a0003c0042t0001 | a0003c0042t0001g0145 | 1 | 134 | 0.0075 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134852 | TCCAGCTC others(33): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0010 | a0010c0085 | a0010c0085t0002 | a0010c0085t0002g0202 | 1 | 274 | 0.0036 | -40 | c.208 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179331396 | TGGAGGGA others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(28): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0022a0001c0034others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0096 a0001c0001t0002g0102 a0001c0001t0004g0091 others(28): Show |
31 | 124 | 0.2500 | -40 | c.534 others(59): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83714864 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0060a0003c0003others(6): Show | a0001c0001t0001a0002c0060t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0264 a0002c0060t0001g0245 a0003c0003t0001g0224 others(30): Show |
33 | 127 | 0.2598 | -40 | c.189 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714868 | CCCTCCCT others(33): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18947.hp1 NA19084.hp2 |
a0004a0013 | a0004c0004a0013c0035 | a0004c0004t0001a0013c0035t0001 | a0004c0004t0001g0253 a0004c0004t0001g0254 a0013c0035t0001g0175 |
3 | 269 | 0.0112 | -40 | c.189 others(59): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83822250 | TGGGCGGA others(33): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00733.hp2 others(48): Show |
a0002a0003a0006others(7): Show | a0002c0002a0002c0020a0002c0045others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(14): Show | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0021 others(48): Show |
51 | 237 | 0.2152 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83822411 | GGGCGGAG others(33): Show |
G | intron_variant | MODIFIER | NA18968.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 a0002c0002t0001g0208 |
2 | 272 | 0.0074 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83822481 | GGCGGCCG others(33): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 HG02280.hp1 others(15): Show |
a0001a0002a0007others(6): Show | a0001c0001a0002c0008a0002c0016others(8): Show | a0001c0001t0001a0002c0008t0001a0002c0016t0001others(9): Show | a0001c0001t0001g0053 a0002c0008t0001g0161 a0002c0008t0001g0239 others(15): Show |
18 | 272 | 0.0662 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83822614 | GCTCCTCA others(33): Show |
G | intron_variant | MODIFIER | NA19012.hp1 | a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0051 | 1 | 272 | 0.0037 | -40 | c.600 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 84036357 | TTTTGAGC others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0150 | 1 | 272 | 0.0037 | -40 | c.475 others(57): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 28/29 | chr15 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144397048 | TGGGAAGG others(33): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 344 | 0.0029 | -40 | c.*39 others(51): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 3807 | chr8 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144397068 | AGGGAGAT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 344 | 0.0029 | -40 | c.*39 others(51): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 3827 | chr8 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24922414 | TGGTGGCG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp2 NA20129.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0258 a0001c0006t0007g0259 a0001c0006t0007g0260 |
3 | 270 | 0.0111 | -40 | c.-29 others(51): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2178 | chr2 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123396755 | AAGGAAGG others(33): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 258 | 0.0039 | -40 | c.113 others(61): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142548247 | GAGGATGG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(97): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(96): Show |
100 | 308 | 0.3247 | -40 | c.*38 others(51): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3241 | chr8 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69031037 | CTCTCTTC others(33): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0025 a0002c0005t0002g0026 |
2 | 55 | 0.0364 | -40 | c.210 others(61): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69333936 | CAAAATAA others(33): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01433.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0001g0097 others(10): Show |
13 | 41 | 0.3171 | -40 | c.318 others(58): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 130997372 | TGGCTGCC others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(43): Show | a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0212 others(77): Show |
80 | 240 | 0.3333 | -40 | c.967 others(57): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19059588 | AAGTAGTA others(33): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009 | a0002c0002t0002g0171 a0002c0002t0009g0015 |
2 | 185 | 0.0108 | -40 | c.118 others(57): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19059675 | ACTAAAGA others(33): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp1 others(54): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(54): Show |
57 | 170 | 0.3353 | -40 | c.118 others(57): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar |