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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZP4_chr1_237877404_237895922 | 237884007 | CACACACA others(39): Show |
C | intron_variant | MODIFIER | HG03098.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 a0001c0002t0001g0050 |
2 | 448 | 0.0045 | -46 | c.139 others(63): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135493098 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG03486.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0008 | a0001c0001t0001a0002c0003t0003a0006c0008t0009 | a0001c0001t0001g0118 a0002c0003t0003g0076 a0002c0003t0003g0077 others(3): Show |
6 | 214 | 0.0280 | -46 | c.161 others(65): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52817791 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 352 | 0.0028 | -46 | c.204 others(65): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4112033 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02922.hp2 HG03041.hp1 others(2): Show |
a0001a0006a0010 | a0001c0001a0006c0019a0010c0045 | a0001c0001t0001a0006c0019t0003a0010c0045t0003 | a0001c0001t0001g0131 a0006c0019t0003g0222 a0006c0019t0003g0223 others(2): Show |
5 | 296 | 0.0169 | -46 | c.106 others(63): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 5/54 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69146209 | TATATATA others(38): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG02027.hp2 others(6): Show |
a0002a0003a0020 | a0002c0002a0003c0003a0020c0019 | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(1): Show | a0002c0002t0001g0008 a0002c0002t0001g0043 a0002c0002t0001g0075 others(6): Show |
9 | 348 | 0.0259 | -45 | c.*25 others(56): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1797 | chr17 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862661 | GGCCGGGC others(38): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0007 | a0007c0092 | a0007c0092t0007 | a0007c0092t0007g0046 | 1 | 318 | 0.0031 | -45 | c.422 others(60): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA2_chr9_137002234_137033237 | 137022120 | AGTGGGGG others(38): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0192 | 1 | 320 | 0.0031 | -45 | c.568 others(60): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 6/48 | chr9 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146209 | TATATATA others(38): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG03688.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0074 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 326 | 0.0153 | -45 | c.-45 others(56): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4315 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1036451 | ACAAGAAG others(38): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA19043.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0008a0001c0010t0047 | a0001c0002t0008g0037 a0001c0010t0047g0227 |
2 | 337 | 0.0059 | -45 | c.179 others(66): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1131758 | TCTTTGCA others(38): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0005g0282 a0001c0001t0006g0118 a0001c0001t0008g0024 others(5): Show |
8 | 337 | 0.0237 | -45 | c.62- others(60): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49800175 | TGGGGGGT others(38): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0036 a0001c0001t0013g0192 |
3 | 434 | 0.0069 | -45 | c.183 others(62): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390259 | ATAATTAT others(38): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0257 | 1 | 299 | 0.0033 | -45 | c.38+ others(62): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACADS_chr12_120720826_120745008 | 120733535 | CTGCCTGC others(38): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp1 others(70): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(45): Show |
73 | 426 | 0.1714 | -45 | c.211 others(62): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834851 | GGGAAGGA others(38): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01256.hp2 others(28): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 others(26): Show |
31 | 382 | 0.0812 | -45 | c.-38 others(56): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834853 | GAAGGAAG others(38): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0349 a0001c0001t0001g0350 others(2): Show |
5 | 382 | 0.0131 | -45 | c.-38 others(56): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3762 | chr2 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39101985 | TGGTGCTT others(38): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0008 | a0008c0016 | a0008c0016t0011 | a0008c0016t0011g0166 | 1 | 402 | 0.0025 | -45 | c.111 others(62): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTL6A_chr3_179557926_179593407 | 179569547 | ATGAATAT others(38): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 380 | 0.0026 | -45 | c.26- others(58): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735823 | GGGGCGGG others(38): Show |
G | downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0121 | 1 | 314 | 0.0032 | -45 | c.*63 others(56): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4235 | chr19 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGAAA others(38): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 HG02970.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0002t0004a0001c0002t0018others(3): Show | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0004g0169 others(5): Show |
8 | 174 | 0.0460 | -45 | c.-18 others(64): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133261974 | CGGGGCCG others(38): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp1 others(40): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0002t0002g0016 others(22): Show |
43 | 386 | 0.1114 | -45 | c.*11 others(56): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 448 | chr10 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277884 | CCCCTGCG others(38): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG03669.hp2 NA18998.hp2 |
a0001a0002 | a0001c0001a0001c0022a0002c0010 | a0001c0001t0024a0001c0022t0002a0002c0010t0003 | a0001c0001t0024g0055 a0001c0022t0002g0102 a0002c0010t0003g0241 |
3 | 276 | 0.0109 | -45 | c.535 others(62): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65319710 | GGGAGGGA others(38): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0163 a0001c0001t0002g0090 |
2 | 204 | 0.0098 | -45 | c.122 others(64): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133562530 | GGCTGGGC others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01496.hp2 others(27): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0052 others(27): Show |
30 | 152 | 0.1974 | -45 | c.174 others(64): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133562930 | CGGCTTGG others(38): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0111 | 1 | 152 | 0.0066 | -45 | c.174 others(64): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823879 | CCTTCTTC others(38): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0081 | 1 | 274 | 0.0037 | -45 | c.600 others(62): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 942727 | GAGAGGAG others(38): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 14 | 0.0714 | -45 | c.83- others(60): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45074012 | CGGGGGCT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0014 | a0001c0002t0008a0001c0003t0096a0001c0014t0093 | a0001c0002t0008g0036 a0001c0002t0008g0037 a0001c0002t0008g0038 others(2): Show |
5 | 350 | 0.0143 | -45 | c.-10 others(55): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 567 | chr21 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238027 | CTCCCGGT others(38): Show |
C | intron_variant | MODIFIER | HG02897.hp1 NA19011.hp1 |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0012a0009c0016t0014 | a0001c0001t0012g0024 a0009c0016t0014g0008 |
2 | 106 | 0.0189 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238139 | TCTCCCTC others(38): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0021 | 1 | 106 | 0.0094 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238144 | CTCCCGGT others(38): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02258.hp2 HG02897.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0012a0001c0001t0054a0002c0002t0004others(4): Show | a0001c0001t0012g0024 a0001c0001t0054g0083 a0002c0002t0004g0084 others(4): Show |
7 | 106 | 0.0660 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238328 | TCTCCCTC others(38): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 106 | 0.0094 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238355 | GCCTCCCG others(38): Show |
G | intron_variant | MODIFIER | HG04184.hp2 NA19011.hp1 |
a0002a0009 | a0002c0002a0009c0016 | a0002c0002t0002a0009c0016t0014 | a0002c0002t0002g0075 a0009c0016t0014g0008 |
2 | 106 | 0.0189 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238667 | CTCCCGGT others(38): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0068 | 1 | 106 | 0.0094 | -45 | c.136 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1439570 | TATGGGGC others(38): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01081.hp2 others(36): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(25): Show | a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(36): Show |
39 | 106 | 0.3679 | -45 | c.101 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1699689 | CAGGCGCT others(38): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0057 | 1 | 106 | 0.0094 | -45 | c.100 others(64): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144398163 | CCCCACCA others(38): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 a0001c0001t0002g0196 |
2 | 346 | 0.0058 | -45 | c.*50 others(56): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 4922 | chr8 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123312409 | AAATCTGC others(38): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 260 | 0.0039 | -45 | c.244 others(64): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 12/20 | chr3 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142500279 | CCACCTCC others(38): Show |
C | intron_variant | MODIFIER | HG00738.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0001a0001c0029t0001 | a0001c0001t0001g0151 a0001c0029t0001g0201 |
2 | 310 | 0.0065 | -45 | c.267 others(64): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031037 | CTCTCTTC others(38): Show |
C | intron_variant | MODIFIER | HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0049 a0001c0002t0001g0044 |
2 | 120 | 0.0167 | -45 | c.210 others(66): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69333936 | CAAAATAA others(38): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01192.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0056 others(25): Show |
28 | 120 | 0.2333 | -45 | c.318 others(63): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131029812 | ACGGTGAC others(38): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02647.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0020a0001c0025 | a0001c0001t0028a0001c0020t0002a0001c0025t0021 | a0001c0001t0028g0205 a0001c0020t0002g0180 a0001c0025t0021g0119 |
3 | 242 | 0.0124 | -45 | c.147 others(66): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19065968 | TCCCAAGT others(38): Show |
T | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0182 | 1 | 188 | 0.0053 | -45 | c.118 others(62): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 3/28 | chrX | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7918169 | GGCTGCCA others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01261.hp1 others(2): Show |
a0001 | a0001c0004a0001c0038 | a0001c0004t0006a0001c0004t0062a0001c0004t0066others(2): Show | a0001c0004t0006g0248 a0001c0004t0062g0241 a0001c0004t0066g0243 others(2): Show |
5 | 318 | 0.0157 | -45 | c.-3+ others(62): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AGPAT1_chr6_32163212_32181084 | 32164420 | GGTTGGAA others(38): Show |
G | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 445 | 0.0023 | -45 | c.*48 others(56): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 3791 | chr6 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246897887 | GAAGATCG others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0020others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(21): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(105): Show |
108 | 376 | 0.2872 | -45 | c.162 others(62): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 12/35 | chr1 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131125428 | AGGACCAT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 424 | 0.0024 | -45 | c.*51 others(56): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2285 | chr9 | TogoVar | |||||||
AK8_chr9_132720578_132883284 | 132880290 | GCCCGTCC others(38): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 266 | 0.0038 | -45 | c.-20 others(56): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 2007 | chr9 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1587608 | TTCCCCTC others(38): Show |
T | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03704.hp2 HG04184.hp2 others(3): Show |
a0001a0015 | a0001c0001a0001c0005a0015c0009 | a0001c0001t0001a0001c0005t0001a0001c0005t0006others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0005t0001g0060 others(3): Show |
6 | 151 | 0.0397 | -45 | c.-41 others(56): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3995 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1589089 | CCTCCCTT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0124 | 1 | 151 | 0.0066 | -45 | c.-26 others(56): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2514 | chrX | TogoVar | |||||||
AKAP4_chrX_50185777_50206007 | 50199531 | GTCTGGAA others(38): Show |
G | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0084 | 1 | 287 | 0.0035 | -45 | c.28- others(58): Show |
AKAP4 | ENSG00000147081.15 | transcript | ENST00000358526.7 | protein_coding | 1/5 | chrX | TogoVar |