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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(70): Show |
74 | 137 | 0.5401 | -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 | a0001c0011t0001g0014 a0001c0013t0001g0159 a0001c0029t0011g0090 others(51): Show |
54 | 199 | 0.2714 | -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 | a0001c0003t0004g0075 a0001c0012t0002g0045 a0001c0012t0002g0257 others(7): Show |
10 | 292 | 0.0342 | -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 | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(58): Show |
61 | 270 | 0.2259 | -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 | a0001c0003t0002g0069 a0001c0004t0007g0001 a0001c0004t0007g0013 others(4): Show |
9 | 33 | 0.2727 | -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 | a0001c0001t0001g0184 a0001c0002t0002g0016 a0001c0002t0002g0097 others(3): Show |
6 | 61 | 0.0984 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(1): Show |
4 | 248 | 0.0161 | -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 |
a0001a0004a0005 | a0001c0003a0001c0004a0001c0012others(2): Show | a0001c0003t0004a0001c0004t0004a0001c0012t0004others(2): Show | a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 others(20): Show |
25 | 133 | 0.1880 | -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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 others(76): Show |
88 | 134 | 0.6567 | -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 | a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0004t0005g0283 others(7): Show |
10 | 102 | 0.0980 | -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 | a0001c0001t0002g0010 a0001c0001t0004g0097 a0001c0002t0001g0292 others(29): Show |
32 | 53 | 0.6038 | -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 | a0001c0001t0005g0245 a0001c0001t0009g0044 a0001c0001t0009g0232 others(12): Show |
17 | 267 | 0.0637 | -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 | a0001c0001t0001g0048 a0001c0001t0001g0098 a0001c0001t0011g0196 others(3): Show |
7 | 289 | 0.0242 | -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 |
a0033a0085 | a0033c0076a0033c0077a0085c0067 | a0033c0076t0001a0033c0077t0001a0085c0067t0001 | a0033c0076t0001g0295 a0033c0077t0001g0155 a0085c0067t0001g0156 |
3 | 133 | 0.0226 | -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 | a0001c0003t0013g0206 a0001c0003t0013g0208 a0001c0003t0013g0209 others(1): Show |
4 | 315 | 0.0127 | -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 | a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0056 |
3 | 322 | 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 | a0001c0001t0002g0308 a0001c0001t0005g0069 a0001c0001t0005g0070 others(4): Show |
7 | 17 | 0.4118 | -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 | a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0002g0309 others(13): Show |
16 | 126 | 0.1270 | -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 | a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0001t0006g0097 others(6): Show |
9 | 309 | 0.0291 | -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 |
a0001a0005a0008 | a0001c0001a0001c0003a0001c0016others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(52): Show |
80 | 294 | 0.2721 | -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(72): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0003 | a0001c0001t0001g0026 a0001c0001t0001g0318 a0001c0001t0001g0319 others(68): Show |
75 | 159 | 0.4717 | -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 | a0001c0001t0001g0091 a0001c0001t0001g0210 a0001c0001t0001g0280 others(35): Show |
45 | 63 | 0.7143 | -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 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0241 others(70): Show |
94 | 253 | 0.3715 | -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 | a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0322 others(3): Show |
6 | 350 | 0.0171 | -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 | a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 others(4): Show |
7 | 329 | 0.0213 | -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 | a0001c0003a0006c0009a0007c0011 | a0001c0003t0001a0006c0009t0001a0007c0011t0001 | a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0292 others(8): Show |
11 | 366 | 0.0301 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 |
3 | 332 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0285 others(4): Show |
7 | 8 | 0.8750 | -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 | a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0104 others(3): Show |
6 | 332 | 0.0181 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0058 others(20): Show |
42 | 289 | 0.1453 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0110 |
5 | 102 | 0.0490 | -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 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0123 others(2): Show |
5 | 34 | 0.1471 | -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 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 |
3 | 261 | 0.0115 | -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(249): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(147): Show |
252 | 262 | 0.9618 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0027 others(94): Show |
100 | 333 | 0.3003 | -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 | a0001c0001t0001g0030 a0001c0001t0001g0341 a0001c0001t0001g0344 others(4): Show |
7 | 394 | 0.0178 | -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 | a0001c0001t0001g0009 a0001c0001t0001g0340 a0001c0001t0001g0347 others(9): Show |
12 | 87 | 0.1379 | -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 | a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 others(9): Show |
12 | 365 | 0.0329 | -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 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0004g0114 |
3 | 145 | 0.0207 | -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 | a0001c0001t0002g0031 a0001c0001t0002g0249 a0001c0001t0008g0164 others(3): Show |
6 | 136 | 0.0441 | -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 | a0001c0001t0002g0144 a0001c0001t0004g0040 a0001c0001t0004g0043 others(5): Show |
8 | 344 | 0.0233 | -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(116): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 others(116): Show |
119 | 342 | 0.3480 | -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 | a0002c0002t0020a0002c0002t0119 | a0002c0002t0020g0214 a0002c0002t0020g0215 a0002c0002t0020g0217 others(2): Show |
5 | 285 | 0.0175 | -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(71): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(30): Show | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(71): Show |
74 | 265 | 0.2792 | -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 | 76948211 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01358.hp2 HG02109.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0131others(11): Show | a0001c0001t0002g0140 a0001c0001t0004g0074 a0001c0003t0131g0343 others(13): Show |
16 | 77 | 0.2078 | -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 | 76950352 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(27): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0009a0002c0002t0010others(14): Show | a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0249 others(27): Show |
30 | 203 | 0.1478 | -8 | c.215 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACE_chr17_63472061_63503373 | 63472612 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0004a0001c0060 | a0001c0004t0002a0001c0060t0001 | a0001c0004t0002g0016 a0001c0004t0002g0042 a0001c0004t0002g0107 others(2): Show |
6 | 114 | 0.0526 | -8 | c.-44 others(19): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 4448 | chr17 | TogoVar | |||||||
ACKR1_chr1_159199875_159211500 | 159200518 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0004 others(6): Show |
68 | 93 | 0.7312 | -8 | c.-44 others(19): Show |
ACKR1 | ENSG00000213088.13 | transcript | ENST00000368122.4 | protein_coding | 4356 | chr1 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42843034 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG02040.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0034 a0002c0002t0002g0060 a0002c0002t0004g0004 others(12): Show |
16 | 183 | 0.0874 | -8 | c.-37 others(27): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42860164 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA18955.hp2 NA18957.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0025 others(4): Show |
8 | 121 | 0.0661 | -8 | c.-37 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |