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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAD9_chr3_128874620_128918114 | 128899523 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01255.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0033a0001c0002t0002g0064a0001c0002t0002g0109others(6): Show | 10 | 372 | 0.0269 | 8 | c.808 others(22): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210184989 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02723.hp2 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0063a0001c0001t0001g0067others(1): Show | 4 | 274 | 0.0146 | 8 | c.*39 others(19): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0049a0001c0001t0001g0050others(2): Show | 6 | 274 | 0.0219 | 8 | c.536 others(25): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0250a0001c0001t0002g0124a0001c0001t0002g0128others(11): Show | 14 | 364 | 0.0385 | 8 | c.468 others(25): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0243others(3): Show | 6 | 364 | 0.0165 | 8 | c.468 others(25): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88807747 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(69): Show |
a0001a0002a0003others(39): Show | a0001c0002a0001c0014a0001c0015others(48): Show | a0001c0002t0001a0001c0014t0001a0001c0015t0001others(48): Show | a0001c0002t0001g0095a0001c0002t0001g0098a0001c0002t0001g0101others(69): Show | 72 | 368 | 0.1957 | 8 | c.-8+ others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02451.hp2 others(11): Show |
a0025a0026a0029others(9): Show | a0025c0107a0026c0043a0029c0175others(10): Show | a0025c0107t0015a0026c0043t0001a0026c0043t0008others(11): Show | a0025c0107t0015g0277a0026c0043t0001g0347a0026c0043t0008g0294others(11): Show | 14 | 368 | 0.0380 | 8 | c.683 others(25): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP1_chr17_7331529_7356477 | 7354528 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01496.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0139a0001c0002t0001g0005others(5): Show | 18 | 446 | 0.0404 | 8 | c.*31 others(19): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3052 | chr17 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAAATAAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0266a0001c0001t0002g0172a0001c0001t0002g0177others(11): Show | 14 | 324 | 0.0432 | 8 | c.206 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01175.hp1 HG02027.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0002g0164a0001c0001t0002g0167a0001c0001t0002g0196others(5): Show | 8 | 324 | 0.0247 | 8 | c.206 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195310119 | T | TATTTAGA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(266): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(266): Show | 269 | 324 | 0.8303 | 8 | c.858 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195351129 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022others(98): Show | 101 | 324 | 0.3117 | 8 | c.286 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195377138 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01346.hp2 HG01934.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0025a0001c0002t0035 | a0001c0002t0004g0004a0001c0002t0004g0024a0001c0002t0004g0028others(11): Show | 14 | 324 | 0.0432 | 8 | c.285 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195398637 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022a0001c0001t0001g0197a0001c0001t0001g0216others(60): Show | 63 | 324 | 0.1944 | 8 | c.54- others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1308546 | C | CGGGGGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0028others(16): Show | 21 | 295 | 0.0712 | 8 | c.-73 others(17): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 617 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108131354 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0182a0001c0001t0001g0183others(10): Show | 13 | 386 | 0.0337 | 8 | c.73- others(21): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAT1_chr11_108116567_108152603 | 108141369 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0079a0001c0001t0001g0081others(12): Show | 15 | 386 | 0.0389 | 8 | c.731 others(23): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACBD3_chr1_226139679_226191741 | 226149529 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01346.hp1 others(32): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(32): Show | 35 | 396 | 0.0884 | 8 | c.137 others(27): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226161146 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0003 | a0001c0001t0005g0069a0001c0001t0005g0245a0001c0001t0005g0246others(59): Show | 64 | 396 | 0.1616 | 8 | c.728 others(23): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226178574 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01106.hp2 others(19): Show |
a0002a0005 | a0002c0002a0002c0011a0005c0005 | a0002c0002t0001a0002c0011t0001a0005c0005t0001 | a0002c0002t0001g0009a0002c0002t0001g0073a0002c0002t0001g0075others(18): Show | 22 | 396 | 0.0556 | 8 | c.286 others(25): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27243112 | A | ACACACGC others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0003a0001c0003t0001a0001c0010t0017 | a0001c0001t0003g0341a0001c0001t0003g0342a0001c0001t0003g0343others(15): Show | 18 | 384 | 0.0469 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2316 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27243112 | A | ACACGCGC others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0310a0001c0001t0001g0311a0001c0001t0003g0354others(2): Show | 5 | 384 | 0.0130 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2316 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27243116 | G | GCGCGCGC others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0002g0144a0001c0001t0003g0145a0001c0001t0003g0146others(19): Show | 22 | 384 | 0.0573 | 8 | c.-24 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2320 | chr10 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064562 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0107 | 3 | 446 | 0.0067 | 8 | c.*46 others(19): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4586 | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44064562 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03041.hp1 |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0007 | a0001c0001t0001a0002c0004t0001a0006c0007t0001 | a0001c0001t0001g0084a0002c0004t0001g0089a0006c0007t0001g0088 | 3 | 438 | 0.0069 | 8 | c.-21 others(19): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1707 | chr11 | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15562655 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18998.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0080a0001c0001t0001g0093 | 3 | 264 | 0.0114 | 8 | c.231 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15593391 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(204): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(125): Show | 207 | 264 | 0.7841 | 8 | c.346 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6314872 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0068a0001c0001t0001g0085others(3): Show | 6 | 396 | 0.0152 | 8 | c.94- others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6324860 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0021others(49): Show | 53 | 396 | 0.1338 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6324865 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0030a0001c0001t0001g0338a0001c0004t0001g0380others(3): Show | 6 | 396 | 0.0152 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6324910 | A | AGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0177others(8): Show | 11 | 396 | 0.0278 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6329356 | T | TAGAATAG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02451.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338a0001c0001t0001g0341a0001c0001t0001g0348 | 3 | 396 | 0.0076 | 8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76859890 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0140a0001c0001t0002g0176a0001c0001t0002g0177others(104): Show | 107 | 346 | 0.3093 | 8 | c.-10 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1027 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76864596 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG00741.hp2 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0003g0085a0001c0001t0003g0096a0001c0001t0003g0097others(25): Show | 28 | 346 | 0.0809 | 8 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76868383 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02280.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0180a0001c0001t0005g0165a0001c0001t0005g0184others(1): Show | 4 | 346 | 0.0116 | 8 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76924973 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0002g0135a0001c0001t0002g0148a0001c0001t0002g0161others(20): Show | 23 | 346 | 0.0665 | 8 | c.104 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76933173 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0073a0001c0001t0086 | a0001c0001t0017g0196a0001c0001t0017g0197a0001c0001t0073g0207others(1): Show | 4 | 346 | 0.0116 | 8 | c.214 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76938970 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0035a0001c0003t0026a0001c0003t0027others(6): Show | a0001c0001t0035g0070a0001c0003t0026g0114a0001c0003t0026g0117others(9): Show | 12 | 346 | 0.0347 | 8 | c.214 others(27): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76948211 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 NA18948.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0131a0001c0001t0002g0168a0001c0001t0005g0130others(7): Show | 10 | 346 | 0.0289 | 8 | c.215 others(27): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77025392 | T | TTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0014a0001c0001t0028others(12): Show | a0001c0001t0013g0016a0001c0001t0013g0019a0001c0001t0013g0136others(23): Show | 26 | 346 | 0.0751 | 8 | c.*50 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACER3_chr11_76855918_77031797 | 77031780 | C | CTTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01167.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0002g0173a0001c0001t0002g0175a0001c0001t0002g0181others(18): Show | 21 | 346 | 0.0607 | 8 | c.*11 others(21): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 4984 | chr11 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23064896 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00735.hp2 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0162others(71): Show | 89 | 350 | 0.2543 | 8 | c.230 others(25): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 10/18 | chr14 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42822165 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01255.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0001c0001t0018a0002c0002t0002others(4): Show | a0001c0001t0003g0209a0001c0001t0003g0240a0001c0001t0018g0206others(15): Show | 18 | 342 | 0.0526 | 8 | c.-38 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42828074 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02258.hp1 HG02735.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0026a0001c0001t0003g0103a0002c0002t0002g0299others(2): Show | 5 | 342 | 0.0146 | 8 | c.-38 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0003 | a0001c0001t0001g0033a0001c0001t0001g0068a0001c0001t0001g0104others(29): Show | 34 | 342 | 0.0994 | 8 | c.-37 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR3_chr2_236564825_236587354 | 236566718 | C | CCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(58): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(36): Show | 61 | 394 | 0.1548 | 8 | c.-32 others(19): Show |
ACKR3 | ENSG00000144476.6 | transcript | ENST00000272928.4 | protein_coding | 3106 | chr2 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01346.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0066a0001c0001t0001g0067others(14): Show | 17 | 294 | 0.0578 | 8 | c.226 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(50): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0052a0001c0001t0001g0059others(50): Show | 53 | 294 | 0.1803 | 8 | c.226 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00673.hp2 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0019others(45): Show | 48 | 294 | 0.1633 | 8 | c.177 others(27): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834771 | G | GGGAAGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0186a0001c0001t0001g0343others(1): Show | 4 | 382 | 0.0105 | 8 | c.-39 others(19): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3844 | chr2 | TogoVar |