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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37377659 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(56): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0099a0001c0001t0001g0187a0001c0001t0003g0045others(56): Show | 59 | 299 | 0.1973 | -8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390140 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(107): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0001g0185a0001c0001t0001g0187a0001c0001t0001g0193others(107): Show | 110 | 299 | 0.3679 | -8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140256 | ATCCTTCC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 HG02809.hp1 others(4): Show |
a0004a0006a0008others(1): Show | a0004c0008a0006c0026a0006c0031others(2): Show | a0004c0008t0001a0006c0026t0002a0006c0026t0016others(3): Show | a0004c0008t0001g0198a0006c0026t0002g0155a0006c0026t0002g0156others(4): Show | 7 | 308 | 0.0227 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109140263 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0062a0002c0006 | a0001c0002t0001a0001c0062t0019a0002c0006t0003others(2): Show | a0001c0002t0001g0035a0001c0062t0019g0288a0002c0006t0003g0111others(2): Show | 5 | 308 | 0.0162 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109140271 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01255.hp2 others(12): Show |
a0001a0002a0032 | a0001c0018a0001c0022a0002c0007others(2): Show | a0001c0018t0002a0001c0018t0011a0001c0022t0004others(5): Show | a0001c0018t0002g0048a0001c0018t0002g0049a0001c0018t0011g0046others(12): Show | 15 | 308 | 0.0487 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109167621 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01169.hp2 |
a0013a0027 | a0013c0033a0027c0065 | a0013c0033t0002a0027c0065t0005 | a0013c0033t0002g0185a0013c0033t0002g0189a0027c0065t0005g0225 | 3 | 308 | 0.0097 | -8 | c.787 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109188171 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(71): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0016others(36): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0002others(43): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0079others(71): Show | 74 | 308 | 0.2403 | -8 | c.214 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109194610 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp2 others(51): Show |
a0001a0002a0003others(5): Show | a0001c0011a0001c0013a0001c0029others(10): Show | a0001c0011t0001a0001c0013t0001a0001c0029t0011others(15): Show | a0001c0011t0001g0013a0001c0013t0001g0163a0001c0029t0011g0090others(51): Show | 54 | 308 | 0.1753 | -8 | c.248 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109210227 | GTATATGT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0006others(3): Show | a0001c0003a0001c0012a0001c0013others(6): Show | a0001c0003t0004a0001c0012t0002a0001c0013t0001others(6): Show | a0001c0003t0004g0074a0001c0012t0002g0045a0001c0012t0002g0259others(7): Show | 10 | 308 | 0.0325 | -8 | c.324 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109218367 | AGTTTGTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(58): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0010others(20): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0001others(23): Show | a0001c0002t0001g0035a0001c0002t0001g0075a0001c0002t0001g0079others(58): Show | 61 | 308 | 0.1981 | -8 | c.356 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp1 NA18612.hp2 NA18942.hp2 others(6): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0007a0001c0004t0020 | a0001c0003t0002g0068a0001c0004t0007g0001a0001c0004t0007g0011others(5): Show | 9 | 308 | 0.0292 | -8 | c.678 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111718036 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02698.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0206a0001c0002t0002g0016a0001c0002t0002g0096others(3): Show | 6 | 336 | 0.0179 | -8 | c.992 others(25): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132588192 | GGTATGTA others(1): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(1): Show | 4 | 316 | 0.0127 | -8 | c.162 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128887644 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02056.hp2 others(22): Show |
a0001a0004a0008 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0004a0001c0004t0004a0001c0012t0004others(2): Show | a0001c0003t0004g0050a0001c0003t0004g0054a0001c0003t0004g0061others(20): Show | 25 | 372 | 0.0672 | -8 | c.244 others(25): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210184989 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0019others(76): Show | 88 | 274 | 0.3212 | -8 | c.*39 others(19): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75731278 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0005 | a0001c0001t0002g0230a0001c0001t0002g0232a0001c0004t0005g0292others(7): Show | 10 | 364 | 0.0275 | -8 | c.119 others(25): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0241a0001c0001t0004g0098a0001c0002t0001g0301others(29): Show | 32 | 364 | 0.0879 | -8 | c.946 others(23): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045131 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02451.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0016others(9): Show | a0001c0001t0005g0284a0001c0001t0009g0037a0001c0001t0009g0272others(12): Show | 17 | 374 | 0.0455 | -8 | c.900 others(23): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045165 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG02896.hp2 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0011a0002c0003t0001others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0106a0001c0001t0011g0219others(3): Show | 7 | 374 | 0.0187 | -8 | c.900 others(23): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88853753 | GATACATA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 NA19043.hp1 |
a0065a0066a0067 | a0065c0069a0066c0084a0067c0083 | a0065c0069t0001a0066c0084t0001a0067c0083t0001 | a0065c0069t0001g0156a0066c0084t0001g0155a0067c0083t0001g0295 | 3 | 368 | 0.0082 | -8 | c.226 others(27): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195290813 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0026 | a0001c0003t0013g0206a0001c0003t0013g0208a0001c0003t0013g0209others(1): Show | 4 | 324 | 0.0124 | -8 | c.206 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195311083 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 NA18948.hp1 NA19003.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046a0001c0002t0004g0047a0001c0002t0004g0056 | 3 | 324 | 0.0093 | -8 | c.858 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195351441 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0308a0001c0001t0005g0070a0001c0001t0005g0071others(4): Show | 7 | 324 | 0.0216 | -8 | c.286 others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195398637 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02451.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0020others(3): Show | a0001c0001t0002g0300a0001c0001t0002g0308a0001c0001t0002g0309others(13): Show | 16 | 324 | 0.0494 | -8 | c.54- others(23): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195424281 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0034 | a0001c0001t0006g0091a0001c0001t0006g0096a0001c0001t0006g0097others(6): Show | 9 | 324 | 0.0278 | -8 | c.53+ others(25): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1296815 | CCGCACAC others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(77): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0016others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0011others(52): Show | 80 | 295 | 0.2712 | -8 | c.112 others(25): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 14/23 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226187644 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0003 | a0001c0001t0001g0019a0001c0001t0001g0333a0001c0001t0001g0334others(70): Show | 76 | 396 | 0.1919 | -8 | c.-97 others(17): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 904 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27193114 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0218a0001c0001t0001g0308others(40): Show | 45 | 384 | 0.1172 | -8 | c.*43 others(19): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2099 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27226449 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0240a0001c0001t0001g0251others(84): Show | 94 | 384 | 0.2448 | -8 | c.376 others(25): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228809 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0017 | a0001c0001t0003g0351a0001c0001t0003g0353a0001c0001t0003g0354others(3): Show | 6 | 384 | 0.0156 | -8 | c.375 others(25): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228811 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0346a0001c0001t0003g0348a0001c0001t0003g0349others(4): Show | 7 | 384 | 0.0182 | -8 | c.375 others(25): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27228813 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18941.hp2 NA18942.hp1 others(8): Show |
a0001a0006a0007 | a0001c0003a0006c0011a0007c0009 | a0001c0003t0001a0006c0011t0001a0007c0009t0001 | a0001c0003t0001g0317a0001c0003t0001g0318a0001c0003t0001g0324others(8): Show | 11 | 384 | 0.0287 | -8 | c.375 others(25): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180363853 | CACAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02970.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016 | 3 | 334 | 0.0090 | -8 | c.663 others(27): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180433574 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0002g0285others(4): Show | 7 | 334 | 0.0210 | -8 | c.385 others(25): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180493271 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0104others(3): Show | 6 | 334 | 0.0180 | -8 | c.288 others(23): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074734 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp2 others(39): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0046a0001c0001t0001g0056others(20): Show | 42 | 438 | 0.0959 | -8 | c.489 others(21): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACE2_chrX_15556033_15605960 | 15562655 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0113 | 5 | 264 | 0.0189 | -8 | c.231 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15562708 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02683.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0130others(2): Show | 5 | 264 | 0.0189 | -8 | c.231 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15567194 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047 | 3 | 264 | 0.0114 | -8 | c.199 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 15/17 | chrX | TogoVar | ||||||
ACE2_chrX_15556033_15605960 | 15567198 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(250): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(160): Show | 253 | 264 | 0.9583 | -8 | c.199 others(25): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 15/17 | chrX | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6314872 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0027others(94): Show | 100 | 396 | 0.2525 | -8 | c.94- others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6323423 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0030a0001c0001t0001g0341a0001c0001t0001g0346others(4): Show | 7 | 396 | 0.0177 | -8 | c.93+ others(25): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6324860 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02004.hp2 HG02080.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0340a0001c0001t0001g0349others(9): Show | 12 | 396 | 0.0303 | -8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6331794 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0340a0001c0001t0001g0341a0001c0001t0001g0342others(9): Show | 12 | 396 | 0.0303 | -8 | c.93+ others(23): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19426358 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0004g0115 | 3 | 358 | 0.0084 | -8 | c.365 others(25): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACER2_chr9_19404009_19457505 | 19453187 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp1 HG03139.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0013 | a0001c0001t0002g0025a0001c0001t0002g0270a0001c0001t0008g0185others(3): Show | 6 | 358 | 0.0168 | -8 | c.*25 others(19): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 683 | chr9 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76859923 | TTTATTTA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG03239.hp2 HG03704.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0002g0144a0001c0001t0004g0045a0001c0001t0004g0047others(5): Show | 8 | 346 | 0.0231 | -8 | c.-10 others(19): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 994 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76867490 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0002g0140a0001c0001t0002g0142a0001c0001t0002g0144others(117): Show | 120 | 346 | 0.3468 | -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 | 76868385 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0118 | a0002c0002t0020g0214a0002c0002t0020g0215a0002c0002t0020g0217others(2): Show | 5 | 346 | 0.0145 | -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 | 76868387 | CTCTCTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(32): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0023others(72): Show | 75 | 346 | 0.2168 | -8 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |