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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS1_chr16_70247298_70294506 | 70269322 | G | GAAA | intron_variant | MODIFIER | HG00438.hp2 HG01358.hp2 HG01978.hp1 others(12): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0173 a0001c0002t0001g0185 a0001c0002t0001g0188 others(12): Show |
15 | 52 | 0.2885 | 3 | c.962 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272506 | C | CAAA | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG01978.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0174 a0001c0002t0001g0188 a0001c0002t0001g0241 others(9): Show |
12 | 128 | 0.0938 | 3 | c.480 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70273863 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01952.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(20): Show |
23 | 195 | 0.1179 | 3 | c.480 others(20): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 others(22): Show |
25 | 165 | 0.1515 | 3 | c.479 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44294772 | C | CAAA | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01361.hp2 HG02027.hp2 others(17): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0015others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0002t0002g0002 others(6): Show |
20 | 110 | 0.1818 | 3 | c.*57 others(14): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3958 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42956660 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG02922.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 others(5): Show |
8 | 20 | 0.4000 | 3 | c.390 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965425 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(24): Show |
39 | 175 | 0.2229 | 3 | c.-98 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 972 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965447 | A | AAAG | upstream_gene_variant | MODIFIER | HG01981.hp1 HG03704.hp2 HG03942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(3): Show |
8 | 211 | 0.0379 | 3 | c.-10 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 994 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(54): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(24): Show |
57 | 96 | 0.5938 | 3 | c.-15 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967250 | A | AGAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03225.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(2): Show |
5 | 322 | 0.0155 | 3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2797 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967320 | A | AGAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(66): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(32): Show |
69 | 319 | 0.2163 | 3 | c.-28 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2867 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967355 | A | AGAT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 246 | 0.0407 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2902 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967391 | A | AAAT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 320 | 0.0125 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2938 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967407 | A | ATTT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 312 | 0.0321 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2954 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967409 | A | ATTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01993.hp1 NA18969.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0036 |
4 | 228 | 0.0175 | 3 | c.-29 others(14): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2956 | chr17 | TogoVar | |||||||
AASDHPPT_chr11_106072662_106103695 | 106082555 | G | GTCT | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 402 | 0.0075 | 3 | c.409 others(20): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56334818 | C | CGTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(289): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(22): Show | a0001c0001t0001g0125 a0001c0001t0001g0166 a0001c0005t0001g0011 others(258): Show |
292 | 379 | 0.7704 | 3 | c.*35 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56337453 | T | TAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(11): Show | a0001c0001t0001g0166 a0001c0005t0001g0011 a0001c0005t0001g0028 others(102): Show |
116 | 380 | 0.3053 | 3 | c.*94 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 836 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56337517 | A | ACTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(103): Show |
a0001a0004a0005others(3): Show | a0001c0005a0004c0004a0004c0025others(4): Show | a0001c0005t0001a0001c0005t0005a0004c0004t0001others(6): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(92): Show |
106 | 380 | 0.2789 | 3 | c.*88 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 772 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56337888 | A | AGAT | downstream_gene_variant | MODIFIER | NA18940.hp1 NA18957.hp2 NA18968.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 a0004c0004t0001g0169 a0004c0004t0001g0170 others(2): Show |
8 | 380 | 0.0211 | 3 | c.*51 others(12): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 401 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56339748 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(12): Show | a0001c0001t0001g0166 a0001c0005t0001g0242 a0001c0005t0001g0299 others(127): Show |
145 | 225 | 0.6444 | 3 | c.290 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02148.hp2 others(5): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0003 | a0002c0002t0001g0180 a0005c0007t0003g0033 a0005c0007t0003g0034 others(5): Show |
8 | 86 | 0.0930 | 3 | c.290 others(22): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56376019 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0285 a0001c0005t0001g0299 a0001c0005t0001g0300 others(23): Show |
29 | 225 | 0.1289 | 3 | c.668 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56377078 | A | AAAT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(92): Show |
a0002a0009a0010others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(81): Show |
95 | 239 | 0.3975 | 3 | c.668 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02630.hp1 others(5): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0003 | a0003c0003t0002g0238 a0003c0003t0002g0239 a0005c0007t0003g0033 others(5): Show |
8 | 108 | 0.0741 | 3 | c.-43 others(18): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56392004 | T | TAAA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03041.hp2 others(3): Show |
a0001a0006a0018 | a0001c0010a0006c0008a0018c0014 | a0001c0010t0001a0006c0008t0001a0018c0014t0001 | a0001c0010t0001g0281 a0006c0008t0001g0059 a0006c0008t0001g0060 others(3): Show |
6 | 316 | 0.0190 | 3 | c.-46 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4514 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122109253 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0117 others(11): Show |
15 | 137 | 0.1095 | 3 | c.127 others(22): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 11/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122135271 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(63): Show |
86 | 192 | 0.4479 | 3 | c.-15 others(20): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG02080.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0014a0003c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0138 others(7): Show |
12 | 104 | 0.1154 | 3 | c.-16 others(20): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001455 | G | GGAA | intron_variant | MODIFIER | HG00558.hp2 HG01257.hp1 HG02027.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0081 a0001c0001t0002g0002 a0001c0001t0002g0003 others(13): Show |
16 | 210 | 0.0762 | 3 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37003471 | C | CTTT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0041 others(7): Show |
10 | 141 | 0.0709 | 3 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02135.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0084 others(10): Show |
13 | 118 | 0.1102 | 3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAA | intron_variant | MODIFIER | HG00558.hp1 HG01358.hp1 HG01358.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0038 others(25): Show |
28 | 172 | 0.1628 | 3 | c.139 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37035541 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 others(13): Show |
16 | 234 | 0.0684 | 3 | c.161 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37057403 | C | CTTT | downstream_gene_variant | MODIFIER | HG02293.hp2 HG02723.hp1 HG03834.hp1 others(2): Show |
a0001a0002a0004 | a0001c0003a0002c0004a0004c0008 | a0001c0003t0001a0002c0004t0001a0004c0008t0001 | a0001c0003t0001g0091 a0002c0004t0001g0098 a0002c0004t0001g0099 others(2): Show |
5 | 168 | 0.0298 | 3 | c.*73 others(12): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 533 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81145234 | C | CAAA | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01106.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0204 a0001c0001t0001g0206 others(36): Show |
40 | 340 | 0.1176 | 3 | c.56- others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154319 | C | CTTT | intron_variant | MODIFIER | HG01358.hp2 HG02647.hp2 HG02735.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0005a0003c0003t0001a0003c0009t0005others(2): Show | a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 others(4): Show |
7 | 95 | 0.0737 | 3 | c.55+ others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81166503 | C | CGGG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp2 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(15): Show | a0001c0001t0001g0032 a0001c0001t0001g0164 a0001c0001t0001g0212 others(31): Show |
34 | 168 | 0.2024 | 3 | c.-51 others(12): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 283 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8681458 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG02015.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0007others(4): Show | a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0003t0003g0153 others(6): Show |
9 | 145 | 0.0621 | 3 | c.-42 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8706404 | C | CAAA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG02738.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0002g0050 a0001c0001t0002g0116 a0001c0001t0002g0136 others(5): Show |
8 | 137 | 0.0584 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(156): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0070 others(156): Show |
159 | 261 | 0.6092 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8709826 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG00738.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0119 others(23): Show |
26 | 129 | 0.2016 | 3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8729828 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0104 others(179): Show |
182 | 234 | 0.7778 | 3 | c.-41 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737993 | A | AAGG | intron_variant | MODIFIER | HG00609.hp1 HG03710.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0313 a0001c0003t0001g0090 a0001c0003t0001g0356 |
3 | 359 | 0.0084 | 3 | c.70+ others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743007 | T | TAAA | intron_variant | MODIFIER | HG01168.hp1 HG02074.hp2 HG02109.hp2 others(18): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0145 a0001c0001t0001g0219 a0001c0001t0001g0316 others(18): Show |
21 | 57 | 0.3684 | 3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743704 | T | TATA | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0001c0001t0047a0002c0015t0005 | a0001c0001t0001g0219 a0001c0001t0001g0240 a0001c0001t0047g0309 others(1): Show |
4 | 98 | 0.0408 | 3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0091 others(92): Show |
95 | 137 | 0.6934 | 3 | c.199 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8750202 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(136): Show |
a0001a0002a0005 | a0001c0001a0001c0013a0002c0002others(10): Show | a0001c0001t0003a0001c0013t0002a0002c0002t0001others(52): Show | a0001c0001t0003g0353 a0001c0013t0002g0196 a0001c0013t0002g0197 others(136): Show |
139 | 360 | 0.3861 | 3 | c.199 others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8750943 | C | CTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01192.hp2 others(9): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0010 | a0002c0002t0001a0002c0002t0004a0002c0002t0006others(4): Show | a0002c0002t0001g0009 a0002c0002t0001g0292 a0002c0002t0001g0329 others(9): Show |
12 | 201 | 0.0597 | 3 | c.316 others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8755756 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(37): Show |
a0001a0002a0005 | a0001c0003a0001c0013a0002c0004others(3): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(13): Show | a0001c0003t0001g0028 a0001c0003t0003g0089 a0001c0003t0003g0107 others(37): Show |
40 | 282 | 0.1418 | 3 | c.317 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |