| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AIMP2_chr7_6004272_6028834 | 6013255 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp1 others(80): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0131a0001c0001t0001g0149a0001c0001t0001g0150others(70): Show | 83 | 442 | 0.1878 | -9 | c.136 others(26): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AIPL1_chr17_6418738_6440121 | 6421844 | GAAAAGAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00673.hp2 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0002g0009a0001c0001t0002g0226a0001c0001t0002g0287others(52): Show | 55 | 454 | 0.1212 | -9 | c.*36 others(20): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1893 | chr17 | TogoVar | ||||||
| AJAP1_chr1_4649609_4797534 | 4743929 | AGCTCTCC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(123): Show | a0001c0001t0001g0125a0001c0001t0002g0240a0001c0001t0004g0001others(147): Show | 153 | 334 | 0.4581 | -9 | c.830 others(28): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AJAP1_chr1_4649609_4797534 | 4767567 | TATCACCA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0159 | a0001c0002t0012g0171a0001c0002t0012g0194a0001c0002t0012g0210others(2): Show | 5 | 334 | 0.0150 | -9 | c.830 others(26): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AJAP1_chr1_4649609_4797534 | 4789849 | CACTGCTA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01081.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0013a0001c0001t0018a0001c0001t0049others(27): Show | a0001c0001t0013g0135a0001c0001t0013g0169a0001c0001t0013g0195others(32): Show | 35 | 334 | 0.1048 | -9 | c.*73 others(20): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 15353 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| AK2_chr1_33002986_33041883 | 33023401 | TACAACAA others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG04184.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0147a0001c0001t0003g0007a0001c0001t0003g0036others(10): Show | 19 | 350 | 0.0543 | -9 | c.219 others(26): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4741337 | CAGCCGCG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(136): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0187others(131): Show | 139 | 462 | 0.3009 | -9 | c.-25 others(18): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 136 | chr9 | TogoVar | ||||||
| AK4_chr1_65143203_65237145 | 65152384 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(21): Show | a0001c0001t0001g0111a0001c0001t0001g0122a0001c0001t0001g0138others(44): Show | 47 | 300 | 0.1567 | -9 | c.145 others(26): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK4_chr1_65143203_65237145 | 65172095 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02071.hp2 NA18964.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0010a0002c0003t0003others(1): Show | a0001c0001t0001g0116a0001c0002t0010g0130a0002c0003t0003g0212others(1): Show | 4 | 300 | 0.0133 | -9 | c.146 others(28): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77368312 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0012 | a0001c0001t0001g0004a0002c0002t0002g0002a0002c0002t0012g0003 | 3 | 284 | 0.0106 | -9 | c.891 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77368321 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0100a0001c0001t0001g0102others(16): Show | 19 | 284 | 0.0669 | -9 | c.891 others(28): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77438316 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA18947.hp1 NA18960.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0027others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0103a0001c0001t0003g0150others(3): Show | 6 | 284 | 0.0211 | -9 | c.105 others(30): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77472974 | GAGCCCGC others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0139a0001c0001t0001g0216others(22): Show | 25 | 284 | 0.0880 | -9 | c.106 others(30): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK8_chr9_132720578_132883284 | 132789597 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02809.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0189a0001c0004t0001g0197a0001c0004t0001g0212others(7): Show | 10 | 266 | 0.0376 | -9 | c.112 others(28): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132803393 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(78): Show | 81 | 266 | 0.3045 | -9 | c.980 others(28): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132804104 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(77): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(4): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(77): Show | 80 | 266 | 0.3008 | -9 | c.979 others(28): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
| AK9_chr6_109487855_109696202 | 109621904 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(127): Show |
a0002a0005a0006others(5): Show | a0002c0001a0002c0010a0002c0016others(10): Show | a0002c0001t0001a0002c0001t0002a0002c0010t0001others(11): Show | a0002c0001t0001g0289a0002c0001t0001g0290a0002c0001t0002g0002others(124): Show | 130 | 378 | 0.3439 | -9 | c.125 others(28): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 12/40 | chr6 | TogoVar | ||||||
| AK9_chr6_109487855_109696202 | 109684873 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02165.hp2 HG02451.hp1 others(8): Show |
a0001a0003a0004 | a0001c0002a0001c0015a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0015t0001others(2): Show | a0001c0002t0001g0037a0001c0002t0002g0108a0001c0002t0002g0109others(8): Show | 11 | 378 | 0.0291 | -9 | c.-12 others(26): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 1/40 | chr6 | TogoVar | ||||||
| AKAIN1_chr18_5137911_5202257 | 5169044 | ATGCAGGG others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01515.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0233a0001c0001t0011g0356a0001c0001t0011g0362 | 3 | 420 | 0.0071 | -9 | c.17- others(26): Show |
AKAIN1 | ENSG00000231824.4 | transcript | ENST00000434239.4 | protein_coding | 1/1 | chr18 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19946264 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009 | a0001c0001t0004g0257a0001c0001t0006g0178a0001c0001t0009g0057others(2): Show | 5 | 278 | 0.0180 | -9 | c.976 others(26): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
| AKAP12_chr6_151234967_151363559 | 151242291 | CCCTTCCC others(2): Show |
C | intron_variant | MODIFIER | HG03688.hp2 HG03704.hp2 NA18942.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0012a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0020a0001c0012t0001others(3): Show | a0001c0002t0001g0130a0001c0002t0001g0138a0001c0002t0020g0129others(8): Show | 11 | 316 | 0.0348 | -9 | c.162 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| AKAP12_chr6_151234967_151363559 | 151304488 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(38): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0011a0001c0012others(17): Show | a0001c0002t0001a0001c0002t0014a0001c0011t0001others(20): Show | a0001c0002t0001g0050a0001c0002t0001g0130a0001c0002t0001g0194others(38): Show | 41 | 316 | 0.1298 | -9 | c.163 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKAP13_chr15_85375603_85754355 | 85630204 | CACACATC others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0005others(1): Show | a0001c0002t0010a0002c0001t0002a0005c0005t0004others(1): Show | a0001c0002t0010g0072a0002c0001t0002g0014a0002c0001t0002g0277others(7): Show | 10 | 314 | 0.0319 | -9 | c.416 others(28): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | ||||||
| AKAP14_chrX_119890893_119925716 | 119894018 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 304 | 0.0033 | -9 | c.-20 others(20): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 1874 | chrX | TogoVar | ||||||
| AKAP14_chrX_119890893_119925716 | 119894024 | AAAGAGAG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 304 | 0.0033 | -9 | c.-20 others(20): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 1868 | chrX | TogoVar | ||||||
| AKAP14_chrX_119890893_119925716 | 119906225 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 304 | 0.0033 | -9 | c.261 others(26): Show |
AKAP14 | ENSG00000186471.13 | transcript | ENST00000371431.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AKAP17A_chrX_1586604_1607520 | 1587695 | CCCCTCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | NA19062.hp1 | a0015 | a0015c0016 | a0015c0016t0019 | a0015c0016t0019g0014 | 1 | 151 | 0.0066 | -9 | c.-40 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3908 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1587700 | CCCCTCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 151 | 0.0066 | -9 | c.-40 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3903 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1587754 | TCCCTTCC others(2): Show |
T | upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 151 | 0.0066 | -9 | c.-40 others(20): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3849 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1596760 | TTCCTCCT others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 151 | 0.0066 | -9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AKAP17A_chrX_1586604_1607520 | 1596769 | CTCCTCCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(54): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(48): Show | 57 | 151 | 0.3775 | -9 | c.911 others(26): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AKAP6_chr14_32324298_32842684 | 32385998 | TATGTATC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0010a0002c0002others(16): Show | a0001c0004t0007a0001c0010t0001a0001c0010t0005others(22): Show | a0001c0004t0007g0013a0001c0010t0001g0084a0001c0010t0005g0006others(25): Show | 28 | 154 | 0.1818 | -9 | c.-34 others(28): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | chr14 | TogoVar | ||||||
| AKAP6_chr14_32324298_32842684 | 32509120 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01243.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0009others(6): Show | a0001c0001t0001a0001c0001t0049a0001c0010t0001others(7): Show | a0001c0001t0001g0067a0001c0001t0049g0015a0001c0010t0001g0080others(7): Show | 10 | 154 | 0.0649 | -9 | c.325 others(28): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| AKAP8_chr19_15348385_15384787 | 15371287 | ACGTGCTG others(2): Show |
A | intron_variant | MODIFIER | HG03927.hp1 NA18984.hp2 NA19076.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0012t0001g0201 | 3 | 286 | 0.0105 | -9 | c.103 others(26): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
| AKAP9_chr7_91935862_92115673 | 91948605 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(200): Show |
a0001a0004a0005others(13): Show | a0001c0001a0001c0008a0001c0011others(16): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(200): Show | 203 | 306 | 0.6634 | -9 | c.48+ others(24): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKAP9_chr7_91935862_92115673 | 92007281 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(87): Show |
a0002a0003a0008others(8): Show | a0002c0002a0003c0003a0008c0009others(8): Show | a0002c0002t0002a0002c0002t0003a0003c0003t0002others(9): Show | a0002c0002t0002g0214a0002c0002t0002g0215a0002c0002t0002g0216others(87): Show | 90 | 306 | 0.2941 | -9 | c.331 others(28): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 8/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKAP9_chr7_91935862_92115673 | 92090621 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(93): Show |
a0002a0003a0008others(8): Show | a0002c0002a0002c0033a0003c0003others(9): Show | a0002c0002t0002a0002c0002t0003a0002c0033t0002others(10): Show | a0002c0002t0002g0213a0002c0002t0002g0214a0002c0002t0002g0215others(93): Show | 96 | 306 | 0.3137 | -9 | c.935 others(28): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 38/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKAP9_chr7_91935862_92115673 | 92102448 | TTACTACT others(2): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG03492.hp1 HG04184.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0022a0001c0001t0001g0043a0001c0001t0001g0051others(2): Show | 5 | 306 | 0.0163 | -9 | c.110 others(28): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKIP1_chr11_8906189_8925079 | 8924529 | AAACAACA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0114a0001c0001t0001g0137others(5): Show | 10 | 420 | 0.0238 | -9 | c.*50 others(20): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 4451 | chr11 | TogoVar | ||||||
| AKIRIN1_chr1_38986276_39011059 | 38988644 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG02080.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0006a0001c0001t0004g0019a0001c0001t0004g0104others(6): Show | 17 | 426 | 0.0399 | -9 | c.-27 others(20): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 2631 | chr1 | TogoVar | ||||||
| AKIRIN1_chr1_38986276_39011059 | 38994672 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0013a0001c0001t0020others(4): Show | a0001c0001t0009g0077a0001c0001t0013g0030a0001c0001t0020g0030others(4): Show | 9 | 426 | 0.0211 | -9 | c.220 others(26): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AKR1D1_chr7_138071459_138123305 | 138100088 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0174a0001c0001t0001g0226a0001c0001t0001g0242others(6): Show | 9 | 426 | 0.0211 | -9 | c.456 others(26): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKR1D1_chr7_138071459_138123305 | 138114502 | ATACAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03486.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0108a0001c0001t0013g0176a0001c0001t0013g0360others(1): Show | 4 | 426 | 0.0094 | -9 | c.938 others(24): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AKT1_chr14_104764349_104800748 | 104772260 | GTGAGGGC others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02145.hp1 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116a0001c0002t0001g0151a0001c0002t0001g0294 | 3 | 386 | 0.0078 | -9 | c.126 others(25): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 13/14 | chr14 | TogoVar | ||||||
| AKT2_chr19_40225317_40290345 | 40244056 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01074.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0020a0001c0001t0003g0007a0001c0001t0003g0008others(45): Show | 51 | 360 | 0.1417 | -9 | c.288 others(26): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | ||||||
| AKT2_chr19_40225317_40290345 | 40276345 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0074a0001c0001t0001g0323a0001c0001t0002g0001others(60): Show | 66 | 360 | 0.1833 | -9 | c.-85 others(26): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01167.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0070a0001c0001t0001g0078a0001c0001t0001g0154others(40): Show | 43 | 301 | 0.1429 | -9 | c.125 others(30): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243620506 | TATGTTAG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0065a0001c0001t0001g0140a0001c0001t0001g0141others(95): Show | 98 | 301 | 0.3256 | -9 | c.562 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
| ALAS2_chrX_55004055_55035977 | 55029223 | TTACAATT others(2): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 284 | 0.0035 | -9 | c.-16 others(26): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 1/10 | chrX | TogoVar | ||||||
| ALCAM_chr3_105361909_105581900 | 105563667 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01496.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0001a0001c0015t0001 | a0001c0001t0001g0043a0001c0001t0001g0089a0001c0001t0001g0091others(38): Show | 41 | 378 | 0.1085 | -9 | c.166 others(28): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |