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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAGAB_chr15_67195667_67259661 | 67246391 | C | CAA | intron_variant | MODIFIER | HG02165.hp1 HG02738.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0301 others(4): Show |
7 | 244 | 0.0287 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67251232 | G | GTC | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0006g0211 others(2): Show |
5 | 378 | 0.0132 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67251236 | C | CTG | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01109.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0009a0003c0005t0004 | a0001c0001t0001g0237 a0001c0001t0001g0315 a0001c0001t0009g0022 others(3): Show |
7 | 258 | 0.0271 | 2 | c.73+ others(17): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69456268 | C | CTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0012others(35): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(61): Show |
64 | 223 | 0.2870 | 2 | c.*19 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 1728 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69458707 | G | GCA | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005others(2): Show | a0001c0001t0069a0001c0001t0074a0001c0001t0094others(9): Show | a0001c0001t0069g0055 a0001c0001t0074g0053 a0001c0001t0094g0160 others(13): Show |
16 | 274 | 0.0584 | 2 | c.*17 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 17161 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69488149 | C | CGT | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0111others(8): Show | a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0002g0081 others(10): Show |
13 | 107 | 0.1215 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69489450 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(132): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(62): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(132): Show |
135 | 214 | 0.6308 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69490923 | C | CCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0033others(53): Show | a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0157 others(98): Show |
101 | 225 | 0.4489 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69492518 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0139a0001c0004t0001a0001c0004t0009others(48): Show | a0001c0001t0139g0230 a0001c0004t0001g0135 a0001c0004t0009g0124 others(85): Show |
88 | 159 | 0.5535 | 2 | c.236 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69496273 | G | GTT | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0059a0001c0001t0100a0001c0001t0135others(4): Show | a0001c0001t0059g0288 a0001c0001t0100g0108 a0001c0001t0135g0269 others(6): Show |
9 | 211 | 0.0427 | 2 | c.227 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69497295 | C | CTT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp2 others(47): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0020others(36): Show | a0001c0001t0005g0231 a0001c0001t0005g0254 a0001c0001t0010g0253 others(47): Show |
50 | 193 | 0.2591 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AAT | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0012 others(5): Show |
8 | 184 | 0.0435 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500696 | T | TAC | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0103a0001c0011t0029a0001c0011t0075 | a0001c0003t0103g0136 a0001c0011t0029g0292 a0001c0011t0029g0293 others(1): Show |
4 | 225 | 0.0178 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TAC | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0021a0001c0001t0083others(4): Show | a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0021g0278 others(5): Show |
8 | 103 | 0.0777 | 2 | c.227 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69504397 | C | CAA | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0100a0001c0007t0014a0001c0007t0021others(4): Show | a0001c0001t0100g0108 a0001c0007t0014g0270 a0001c0007t0014g0271 others(6): Show |
9 | 69 | 0.1304 | 2 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69506868 | C | CTG | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01884.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0108others(5): Show | a0001c0001t0001g0122 a0001c0001t0002g0081 a0001c0001t0108g0178 others(6): Show |
9 | 72 | 0.1250 | 2 | c.216 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69520358 | C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG03041.hp2 HG03540.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0074a0001c0003t0008a0001c0003t0022others(4): Show | a0001c0001t0074g0053 a0001c0003t0008g0095 a0001c0003t0008g0097 others(6): Show |
9 | 238 | 0.0378 | 2 | c.121 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69540121 | C | CTT | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02257.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0074others(15): Show | a0001c0001t0002g0012 a0001c0001t0012g0059 a0001c0001t0012g0073 others(20): Show |
23 | 266 | 0.0865 | 2 | c.534 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69553437 | G | GTT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0041a0001c0001t0059others(8): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0041g0287 others(9): Show |
12 | 71 | 0.1690 | 2 | c.282 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69558339 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0059a0001c0001t0135a0001c0003t0022others(5): Show | a0001c0001t0059g0288 a0001c0001t0135g0269 a0001c0003t0022g0011 others(6): Show |
9 | 84 | 0.1071 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559249 | A | ATC | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0020 | a0001c0001t0010a0001c0001t0096a0001c0006t0028others(3): Show | a0001c0001t0010g0208 a0001c0001t0096g0115 a0001c0006t0028g0123 others(3): Show |
6 | 295 | 0.0203 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69559262 | T | TCA | intron_variant | MODIFIER | HG01167.hp2 HG01975.hp2 NA18953.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0027a0002c0002t0004 | a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0027g0126 others(1): Show |
4 | 261 | 0.0153 | 2 | c.164 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69574377 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(37): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(62): Show |
65 | 162 | 0.4012 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69587475 | A | ATT | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0007a0001c0009 | a0001c0007t0014a0001c0007t0021a0001c0007t0143others(2): Show | a0001c0007t0014g0271 a0001c0007t0021g0276 a0001c0007t0021g0279 others(3): Show |
6 | 214 | 0.0280 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69591517 | C | CTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(28): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(55): Show |
58 | 283 | 0.2049 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69599379 | T | TAA | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02486.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0041a0001c0001t0054others(8): Show | a0001c0001t0002g0078 a0001c0001t0041g0287 a0001c0001t0054g0289 others(9): Show |
12 | 216 | 0.0556 | 2 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69610050 | C | CAA | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0007t0014a0001c0007t0021others(1): Show | a0001c0001t0021g0278 a0001c0007t0014g0270 a0001c0007t0014g0271 others(3): Show |
6 | 215 | 0.0279 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69622982 | A | AAG | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(54): Show | a0001c0001t0002g0078 a0001c0001t0005g0197 a0001c0001t0005g0213 others(92): Show |
95 | 296 | 0.3209 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69626508 | A | ATT | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0002a0001c0001t0012a0001c0006t0016others(2): Show | a0001c0001t0002g0078 a0001c0001t0012g0073 a0001c0001t0012g0079 others(5): Show |
8 | 86 | 0.0930 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69626663 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01891.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0021others(17): Show | a0001c0001t0005g0261 a0001c0001t0012g0059 a0001c0001t0021g0278 others(21): Show |
24 | 210 | 0.1143 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69627296 | G | GAA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0041a0001c0001t0059a0001c0001t0099others(5): Show | a0001c0001t0041g0287 a0001c0001t0059g0288 a0001c0001t0099g0294 others(7): Show |
10 | 230 | 0.0435 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69628284 | C | CTT | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0041a0001c0001t0054a0001c0001t0059others(7): Show | a0001c0001t0041g0287 a0001c0001t0054g0289 a0001c0001t0059g0288 others(9): Show |
12 | 214 | 0.0561 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69630338 | G | GGC | intron_variant | MODIFIER | HG01981.hp2 HG02293.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0005g0197 a0001c0001t0005g0258 a0001c0001t0007g0196 others(3): Show |
6 | 292 | 0.0205 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69630340 | T | TGG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0070others(40): Show | a0001c0001t0001g0148 a0001c0001t0002g0023 a0001c0001t0002g0051 others(63): Show |
66 | 113 | 0.5841 | 2 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69634709 | G | GAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(54): Show | a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0051 others(100): Show |
103 | 296 | 0.3480 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640014 | A | AAC | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01358.hp1 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(17): Show | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0122 others(23): Show |
26 | 210 | 0.1238 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640049 | A | ACT | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 NA18612.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0022a0001c0003t0060others(2): Show | a0001c0001t0002g0086 a0001c0003t0022g0011 a0001c0003t0060g0088 others(2): Show |
5 | 267 | 0.0187 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640051 | A | ACT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0023 | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(21): Show | a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0001t0070g0050 others(36): Show |
39 | 262 | 0.1489 | 2 | c.163 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69643085 | A | ATT | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(93): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(38): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(93): Show |
96 | 162 | 0.5926 | 2 | c.-47 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TCC | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01981.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(11): Show | a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0155 others(15): Show |
18 | 46 | 0.3913 | 2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTC | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0001t0033a0001c0001t0135others(3): Show | a0001c0001t0021g0278 a0001c0001t0033g0007 a0001c0001t0135g0269 others(5): Show |
8 | 36 | 0.2222 | 2 | c.-82 others(11): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77822414 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(73): Show |
79 | 222 | 0.3559 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77823214 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01175.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0118 others(31): Show |
34 | 47 | 0.7234 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77823621 | C | CAA | intron_variant | MODIFIER | HG01074.hp2 HG01358.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 others(11): Show |
14 | 134 | 0.1045 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0298 a0001c0002t0002g0112 a0001c0002t0002g0205 others(9): Show |
12 | 103 | 0.1165 | 2 | c.-19 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | A | ATG | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01517.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0288 others(7): Show |
10 | 138 | 0.0725 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77834441 | G | GTT | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG02027.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0147 others(7): Show |
10 | 124 | 0.0806 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77835472 | C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(158): Show |
166 | 380 | 0.4368 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77838615 | C | CTT | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0092 others(7): Show |
10 | 295 | 0.0339 | 2 | c.-18 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77850953 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(122): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(117): Show |
125 | 359 | 0.3482 | 2 | c.132 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |