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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR2B_chr3_38448890_38498142 | 38492775 | CACACACA others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG01981.hp1 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007a0001c0003t0019others(1): Show | a0001c0003t0003g0003 a0001c0003t0003g0150 a0001c0003t0003g0159 others(3): Show |
14 | 408 | 0.0343 | -30 | c.*94 others(41): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9448 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54197935 | ATGTATTA others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG02451.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0251 a0001c0002t0002g0100 a0001c0002t0003g0078 others(2): Show |
5 | 239 | 0.0209 | -30 | c.404 others(49): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201606 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02056.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0156 a0001c0001t0001g0208 a0001c0001t0001g0209 others(6): Show |
9 | 266 | 0.0338 | -30 | c.404 others(49): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54276619 | TCACACAC others(23): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0208 a0001c0002t0003g0096 |
2 | 44 | 0.0455 | -30 | c.405 others(49): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17222472 | GTGTGTAT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0278 a0001c0001t0003g0173 a0001c0001t0003g0187 others(7): Show |
10 | 113 | 0.0885 | -30 | c.-31 others(41): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 3038 | chr22 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098 |
3 | 7 | 0.4286 | -30 | c.*43 others(41): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4368 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113685 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0009 | 1 | 235 | 0.0043 | -30 | c.604 others(47): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9525013 | CAAAGAAG others(23): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0027others(5): Show | a0001c0001t0017g0048 a0001c0001t0017g0091 a0001c0001t0017g0094 others(10): Show |
13 | 232 | 0.0560 | -30 | c.753 others(47): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 6/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39691751 | CTTACTCA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0006 a0001c0002t0001g0160 a0001c0002t0001g0163 others(1): Show |
5 | 346 | 0.0145 | -30 | c.182 others(47): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24466989 | GTGAGTAC others(23): Show |
G | splice_region_variant others(1): Show |
LOW | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 358 | 0.0028 | -30 | c.579 others(42): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATATATA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 25 | 0.0400 | -30 | c.*57 others(41): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835935 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG03486.hp1 |
a0003a0008a0016 | a0003c0005a0008c0045a0016c0044 | a0003c0005t0006a0008c0045t0008a0016c0044t0024 | a0003c0005t0006g0086 a0008c0045t0008g0085 a0016c0044t0024g0087 |
3 | 222 | 0.0135 | -30 | c.489 others(49): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688874 | GGAGGGGG others(23): Show |
G | intron_variant | MODIFIER | HG02129.hp1 NA19004.hp1 NA19068.hp2 |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0003 | a0001c0002t0002a0002c0001t0001a0003c0003t0006 | a0001c0002t0002g0150 a0002c0001t0001g0149 a0003c0003t0006g0100 |
3 | 223 | 0.0135 | -30 | c.523 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130470156 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02135.hp2 HG02145.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0034others(1): Show | a0001c0001t0004a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0004g0118 a0001c0002t0003g0070 a0001c0002t0003g0103 others(6): Show |
9 | 365 | 0.0247 | -30 | c.172 others(47): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977382 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02965.hp2 |
a0001 | a0001c0025a0001c0045 | a0001c0025t0008a0001c0045t0008 | a0001c0025t0008g0077 a0001c0045t0008g0112 |
2 | 214 | 0.0093 | -30 | c.295 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162998 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | NA19054.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0050 | 1 | 226 | 0.0044 | -30 | c.118 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129522326 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02970.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0006a0001c0022 | a0001c0006t0001a0001c0006t0002a0001c0006t0006others(1): Show | a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0126 others(4): Show |
7 | 223 | 0.0314 | -30 | c.914 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72526721 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp1 |
a0001a0009 | a0001c0001a0009c0018 | a0001c0001t0001a0009c0018t0006 | a0001c0001t0001g0136 a0009c0018t0006g0137 |
2 | 180 | 0.0111 | -30 | c.504 others(49): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550039 | AGAAGAGG others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG02055.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0167 |
3 | 166 | 0.0181 | -30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0024 | a0001c0024t0053 | a0001c0024t0053g0060 | 1 | 10 | 0.1000 | -30 | c.110 others(49): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130431286 | CCCACCAC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0269 | 1 | 422 | 0.0024 | -30 | c.-30 others(41): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2678 | chr11 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133564583 | GGAGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0014 | 1 | 143 | 0.0070 | -30 | c.174 others(49): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823879 | CCTTCTTC others(23): Show |
C | intron_variant | MODIFIER | NA18950.hp2 NA19062.hp1 NA19083.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0201 a0003c0003t0001g0192 a0003c0003t0001g0196 |
3 | 235 | 0.0128 | -30 | c.600 others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823893 | CTCTTCTT others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0001a0002c0016t0001 | a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0080 others(16): Show |
19 | 143 | 0.1329 | -30 | c.600 others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83823945 | TCTTCTTC others(23): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG03654.hp1 NA20752.hp2 |
a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0016 a0006c0005t0002g0020 a0006c0005t0002g0026 |
3 | 272 | 0.0110 | -30 | c.600 others(47): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 911548 | ACACGGAG others(23): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 3 | 0.3333 | -30 | c.389 others(47): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 933464 | AGGGGTCA others(23): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG03654.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 |
3 | 10 | 0.3000 | -30 | c.213 others(47): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 933619 | ACCGGGGT others(23): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 10 | 0.1000 | -30 | c.213 others(47): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 943697 | CGAGGAGG others(23): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0003g0005 |
3 | 9 | 0.3333 | -30 | c.83- others(45): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239182 | CCCCCCTG others(23): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0058 | 1 | 104 | 0.0096 | -30 | c.136 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239186 | CCTGCCTC others(23): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02257.hp1 HG02622.hp1 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0023a0002c0002t0004a0006c0009t0024 | a0001c0001t0023g0023 a0002c0002t0004g0095 a0006c0009t0024g0016 |
3 | 76 | 0.0395 | -30 | c.136 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239213 | CCCTCTCC others(23): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 NA19070.hp2 |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0009a0002c0002t0065a0002c0004t0005 | a0001c0003t0009g0046 a0002c0002t0065g0086 a0002c0004t0005g0029 |
3 | 106 | 0.0283 | -30 | c.136 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1475140 | ACCCCCGG others(23): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | -30 | c.101 others(49): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1493729 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0008 | a0008c0008 | a0008c0008t0016 | a0008c0008t0016g0003 | 1 | 3 | 0.3333 | -30 | c.101 others(51): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167897539 | AGAGATAT others(23): Show |
A | intron_variant | MODIFIER | NA19054.hp2 NA19056.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0115 a0001c0003t0001g0062 |
2 | 324 | 0.0062 | -30 | c.643 others(45): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar | |||||||
ADCY1_chr7_45569368_45728116 | 45711622 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(92): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0017others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 others(90): Show |
95 | 276 | 0.3442 | -30 | c.305 others(48): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24853005 | GGTGTGTG others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0011a0001c0004t0001others(6): Show | a0001c0002t0002g0018 a0001c0002t0002g0039 a0001c0003t0011g0016 others(8): Show |
12 | 29 | 0.4138 | -30 | c.826 others(49): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24912557 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(94): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(16): Show | a0001c0002t0002g0021 a0001c0002t0002g0032 a0001c0002t0002g0033 others(94): Show |
97 | 270 | 0.3593 | -30 | c.675 others(47): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24912575 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001a0001c0004t0008 | a0001c0002t0001g0110 a0001c0004t0001g0122 a0001c0004t0008g0223 |
3 | 270 | 0.0111 | -30 | c.675 others(47): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123303833 | AAAGAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0010a0001c0021 | a0001c0010t0008a0001c0021t0030 | a0001c0010t0008g0152 a0001c0010t0008g0153 a0001c0021t0030g0187 |
3 | 249 | 0.0120 | -30 | c.255 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 13/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123303838 | AAAGAGAA others(23): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA19005.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0008a0002c0006t0002 | a0001c0001t0008g0093 a0002c0006t0002g0065 |
2 | 100 | 0.0200 | -30 | c.255 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 13/20 | chr3 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123324404 | CCACACAC others(23): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02818.hp2 NA18967.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0004c0012t0001 | a0001c0001t0001g0175 a0001c0001t0001g0240 a0004c0012t0001g0252 |
3 | 7 | 0.4286 | -30 | c.208 others(47): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969584 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0112 | a0001c0002t0112g0288 | 1 | 315 | 0.0032 | -30 | c.287 others(49): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3998749 | GAAAGAAA others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0001 | a0001c0001t0003g0189 a0002c0004t0001g0232 a0002c0004t0001g0269 |
3 | 42 | 0.0714 | -30 | c.188 others(49): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
ADD2_chr2_70651784_70773200 | 70771244 | GCTGGCAC others(23): Show |
G | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 300 | 0.0033 | -30 | c.-35 others(41): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 3045 | chr2 | TogoVar | |||||||
ADD3_chr10_110002984_110140565 | 110079447 | AGAGAGAG others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0113 | 1 | 284 | 0.0035 | -30 | c.-29 others(49): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133127751 | CCCTCCGC others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0017a0001c0001t0039others(4): Show | a0001c0001t0002g0077 a0001c0001t0017g0055 a0001c0001t0017g0149 others(8): Show |
11 | 272 | 0.0404 | -30 | c.500 others(45): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133127761 | TGCCCCGC others(23): Show |
T | intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0056 a0001c0002t0006g0128 |
2 | 261 | 0.0077 | -30 | c.501 others(45): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22421902 | AAAAAGCA others(23): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001a0005 | a0001c0002a0005c0013 | a0001c0002t0001a0001c0002t0002a0005c0013t0001 | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0002g0016 others(2): Show |
5 | 288 | 0.0174 | -30 | c.160 others(47): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 68817304 | CATGTATA others(23): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0050 others(2): Show |
5 | 101 | 0.0495 | -30 | c.758 others(51): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |