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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42709048 | A | AAT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0007a0002c0003a0002c0008 | a0001c0007t0004a0002c0003t0001a0002c0003t0017others(1): Show | a0001c0007t0004g0266 a0002c0003t0001g0268 a0002c0003t0001g0282 others(5): Show |
8 | 366 | 0.0219 | 2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709343 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 others(109): Show |
114 | 400 | 0.2850 | 2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(4): Show | a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 others(17): Show |
20 | 143 | 0.1399 | 2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722157 | C | CAA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01891.hp1 HG02027.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0018a0001c0002t0011a0001c0002t0023others(2): Show | a0001c0001t0018g0389 a0001c0002t0011g0008 a0001c0002t0011g0278 others(9): Show |
12 | 73 | 0.1644 | 2 | c.-15 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01167.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0002g0304 a0001c0001t0004g0336 a0001c0001t0004g0382 others(9): Show |
12 | 75 | 0.1600 | 2 | c.-16 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42724719 | C | CTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0022others(16): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0090 others(169): Show |
178 | 190 | 0.9368 | 2 | c.-41 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3850 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42725198 | A | ATT | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG02135.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0090 others(7): Show |
10 | 133 | 0.0752 | 2 | c.-45 others(13): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4329 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138121856 | A | AGG | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02486.hp1 HG02622.hp1 others(8): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0005a0002c0004t0008a0003c0006t0008 | a0002c0002t0005g0013 a0002c0002t0005g0026 a0002c0002t0005g0047 others(3): Show |
11 | 396 | 0.0278 | 2 | c.*24 others(13): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1856 | chr3 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53312829 | C | CAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0164 a0001c0005t0001g0166 a0001c0005t0001g0167 others(7): Show |
12 | 21 | 0.5714 | 2 | c.689 others(19): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | C | CGT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 others(38): Show |
41 | 106 | 0.3868 | 2 | c.-26 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064480 | C | CAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01175.hp1 HG01943.hp2 others(6): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0280 others(6): Show |
9 | 189 | 0.0476 | 2 | c.-11 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 954 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125064643 | C | CAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0191 a0001c0001t0002g0243 a0001c0001t0006g0334 others(4): Show |
7 | 197 | 0.0355 | 2 | c.-94 others(11): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 791 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125066450 | A | ATT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(85): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(83): Show |
88 | 165 | 0.5333 | 2 | c.133 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125072157 | C | CTT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0085 others(9): Show |
12 | 277 | 0.0433 | 2 | c.134 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125074660 | G | GTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01243.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0014others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0275 a0001c0001t0001g0276 others(6): Show |
9 | 315 | 0.0286 | 2 | c.237 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125074975 | G | GTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0101 others(3): Show |
6 | 227 | 0.0264 | 2 | c.237 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078820 | C | CAA | intron_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG01891.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0162 a0001c0001t0005g0048 a0002c0002t0001g0114 others(12): Show |
15 | 106 | 0.1415 | 2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080470 | G | GTC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(76): Show |
82 | 356 | 0.2303 | 2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125082832 | G | GAC | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0001c0001t0005a0002c0025t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0005g0103 others(2): Show |
5 | 362 | 0.0138 | 2 | c.359 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125101762 | C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0198 others(31): Show |
34 | 53 | 0.6415 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTA | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0338 others(14): Show |
17 | 212 | 0.0802 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125102079 | A | AAC | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(11): Show |
14 | 358 | 0.0391 | 2 | c.571 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125103457 | G | GCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(180): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(175): Show |
183 | 362 | 0.5055 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0059 others(41): Show |
44 | 60 | 0.7333 | 2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125122642 | C | CAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 others(13): Show |
17 | 228 | 0.0746 | 2 | c.112 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125132240 | C | CAG | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01361.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0078 a0001c0001t0001g0097 others(20): Show |
23 | 361 | 0.0637 | 2 | c.155 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 14/17 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125147103 | C | CAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02015.hp2 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0302 a0001c0001t0001g0341 a0001c0001t0003g0041 others(32): Show |
36 | 196 | 0.1837 | 2 | c.*48 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3788 | chr12 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151732419 | G | GTA | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0042 a0001c0001t0005g0057 |
3 | 137 | 0.0219 | 2 | c.-16 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1507 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151746905 | G | GTT | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0137 a0001c0001t0003g0035 a0001c0001t0005g0016 others(14): Show |
22 | 259 | 0.0849 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151747618 | T | TTG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(96): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(34): Show |
99 | 396 | 0.2500 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151749275 | T | TTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(221): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(93): Show |
224 | 426 | 0.5258 | 2 | c.603 others(19): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GAT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0123 a0001c0001t0003g0002 others(25): Show |
54 | 122 | 0.4426 | 2 | c.*36 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151762094 | C | CAT | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 426 | 0.0493 | 2 | c.*45 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 756 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151764616 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0048 a0001c0001t0007g0011 a0001c0001t0007g0080 others(2): Show |
12 | 346 | 0.0347 | 2 | c.*70 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3278 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151765335 | C | CAA | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01952.hp1 HG01981.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020 | a0002c0002t0001g0004 a0002c0002t0001g0111 a0002c0002t0001g0121 others(1): Show |
6 | 182 | 0.0330 | 2 | c.*77 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3997 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151765683 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01168.hp1 others(14): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0007a0001c0001t0008a0007c0006t0007 | a0001c0001t0007g0011 a0001c0001t0007g0072 a0001c0001t0007g0080 others(7): Show |
17 | 207 | 0.0821 | 2 | c.*80 others(13): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4345 | chr3 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12641692 | G | GTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01169.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0054 others(6): Show |
9 | 263 | 0.0342 | 2 | c.-28 others(13): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2392 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658087 | T | TTC | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0001g0229 a0001c0001t0002g0050 others(1): Show |
4 | 300 | 0.0133 | 2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658166 | T | TTC | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01175.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0229 others(20): Show |
23 | 289 | 0.0796 | 2 | c.386 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151829429 | T | TCA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(77): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0003c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(26): Show |
80 | 438 | 0.1826 | 2 | c.*12 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 942 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151831381 | T | TTA | downstream_gene_variant | MODIFIER | HG02109.hp2 NA20129.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104 a0001c0001t0002g0012 a0001c0001t0002g0042 |
3 | 438 | 0.0068 | 2 | c.*32 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2894 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TAC | downstream_gene_variant | MODIFIER | HG03710.hp1 NA18944.hp1 NA18974.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0006 a0001c0001t0002g0116 a0002c0002t0001g0001 others(2): Show |
12 | 31 | 0.3871 | 2 | c.*32 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170068557 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0189 others(3): Show |
11 | 102 | 0.1078 | 2 | c.900 others(15): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170072299 | G | GTA | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00733.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0014 others(57): Show |
100 | 359 | 0.2786 | 2 | c.654 others(17): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170090088 | G | GGC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 others(22): Show |
38 | 376 | 0.1011 | 2 | c.-40 others(11): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 133 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222230 | A | ACG | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01175.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 others(22): Show |
26 | 356 | 0.0730 | 2 | c.535 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67222240 | G | GCA | intron_variant | MODIFIER | NA18979.hp2 NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0268 a0001c0001t0010g0216 a0001c0001t0010g0217 |
3 | 280 | 0.0107 | 2 | c.535 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67232249 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(103): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(1): Show | a0002c0002t0001g0148 a0002c0002t0003g0001 a0002c0002t0003g0004 others(82): Show |
106 | 362 | 0.2928 | 2 | c.452 others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67234086 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(102): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0020a0002c0002t0001others(3): Show | a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 others(81): Show |
105 | 343 | 0.3061 | 2 | c.451 others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TAC | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 HG03471.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0311 a0003c0005t0004g0312 a0003c0005t0004g0313 |
3 | 9 | 0.3333 | 2 | c.74- others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar |