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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129543955 | C | CCTTGTAT | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02486.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0002a0001c0007t0004others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0007t0002g0013 others(9): Show |
12 | 224 | 0.0536 | 7 | c.132 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129659227 | A | AAGATGTG | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01243.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0002others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0003g0160 others(12): Show |
15 | 224 | 0.0670 | 7 | c.242 others(24): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129662888 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02486.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0120 others(2): Show |
5 | 100 | 0.0500 | 7 | c.242 others(26): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(21): Show |
24 | 62 | 0.3871 | 7 | c.428 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01167.hp1 others(8): Show |
a0001a0007a0018 | a0001c0001a0001c0003a0007c0015others(1): Show | a0001c0001t0001a0001c0003t0001a0007c0015t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0003t0001g0132 others(8): Show |
11 | 32 | 0.3438 | 7 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00741.hp1 others(35): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0168 a0001c0002t0001g0011 a0001c0002t0001g0075 others(35): Show |
38 | 95 | 0.4000 | 7 | c.428 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CACAAAAA | intron_variant | MODIFIER | HG02080.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0001a0001c0012t0001 | a0001c0001t0001g0077 a0001c0001t0001g0225 a0001c0001t0001g0250 others(3): Show |
6 | 63 | 0.0952 | 7 | c.428 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43460989 | T | TATATATA | intron_variant | MODIFIER | HG02896.hp2 HG03453.hp2 HG03486.hp2 others(1): Show |
a0001a0008 | a0001c0003a0001c0009a0008c0013 | a0001c0003t0001a0001c0009t0001a0008c0013t0001 | a0001c0003t0001g0133 a0001c0009t0001g0194 a0008c0013t0001g0193 others(1): Show |
4 | 296 | 0.0135 | 7 | c.161 others(26): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00642.hp2 others(47): Show |
a0001a0006a0010others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0056 others(47): Show |
50 | 66 | 0.7576 | 7 | c.867 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02055.hp2 others(17): Show |
a0001a0004a0008 | a0001c0001a0001c0009a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0095 others(17): Show |
20 | 52 | 0.3846 | 7 | c.613 others(24): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43553957 | T | TTTTTTTC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01081.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 others(5): Show |
8 | 304 | 0.0263 | 7 | c.-20 others(18): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1755 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134872 | T | TCCAGCCC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0050a0002c0005a0002c0010others(21): Show | a0001c0050t0001a0002c0005t0003a0002c0005t0009others(29): Show | a0001c0050t0001g0175 a0002c0005t0003g0222 a0002c0005t0003g0229 others(54): Show |
57 | 245 | 0.2327 | 7 | c.208 others(26): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135071 | T | TCCAGCCC | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG03540.hp1 |
a0001a0003 | a0001c0014a0001c0075a0003c0030 | a0001c0014t0008a0001c0075t0020a0003c0030t0008 | a0001c0014t0008g0063 a0001c0075t0020g0073 a0003c0030t0008g0121 |
3 | 259 | 0.0116 | 7 | c.208 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135071 | T | TCCAGCTC | intron_variant | MODIFIER | HG01891.hp2 HG02129.hp2 HG02559.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0014a0001c0068a0002c0016others(8): Show | a0001c0014t0002a0001c0014t0013a0001c0068t0001others(10): Show | a0001c0014t0002g0131 a0001c0014t0013g0112 a0001c0068t0001g0021 others(12): Show |
15 | 271 | 0.0554 | 7 | c.208 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135080 | C | CAGCTCCT | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02630.hp1 others(1): Show |
a0001a0002a0012 | a0001c0001a0001c0074a0002c0109others(1): Show | a0001c0001t0013a0001c0074t0004a0002c0109t0012others(1): Show | a0001c0001t0013g0019 a0001c0074t0004g0061 a0002c0109t0012g0203 others(1): Show |
4 | 274 | 0.0146 | 7 | c.208 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02071.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0002c0010others(3): Show | a0001c0001t0013a0002c0005t0009a0002c0010t0003others(4): Show | a0001c0001t0013g0019 a0002c0005t0009g0238 a0002c0010t0003g0256 others(4): Show |
7 | 82 | 0.0854 | 7 | c.163 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG02683.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0018a0002c0016a0002c0101others(6): Show | a0001c0018t0002a0002c0016t0015a0002c0101t0002others(6): Show | a0001c0018t0002g0176 a0002c0016t0015g0251 a0002c0101t0002g0223 others(6): Show |
9 | 19 | 0.4737 | 7 | c.892 others(24): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179194166 | C | CAGAGGAG | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 NA18522.hp1 others(3): Show |
a0002a0003a0012 | a0002c0039a0002c0106a0002c0110others(2): Show | a0002c0039t0002a0002c0106t0002a0002c0110t0002others(2): Show | a0002c0039t0002g0204 a0002c0106t0002g0209 a0002c0110t0002g0205 others(3): Show |
6 | 274 | 0.0219 | 7 | c.892 others(26): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72400226 | T | TACACACG | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0007 a0001c0004t0005g0008 |
2 | 163 | 0.0123 | 7 | c.661 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456092 | A | ATATATAG | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01071.hp1 others(25): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0041 others(25): Show |
28 | 164 | 0.1707 | 7 | c.505 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456132 | A | ATATATAG | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0009 | a0001c0003t0002a0002c0002t0001a0002c0009t0001 | a0001c0003t0002g0034 a0002c0002t0001g0025 a0002c0009t0001g0022 others(1): Show |
4 | 56 | 0.0714 | 7 | c.505 others(26): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161188411 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(36): Show |
a0003a0008 | a0003c0004a0003c0007a0003c0015others(2): Show | a0003c0004t0012a0003c0004t0013a0003c0004t0030others(25): Show | a0003c0004t0012g0009 a0003c0004t0013g0010 a0003c0004t0030g0044 others(25): Show |
39 | 367 | 0.1063 | 7 | c.*27 others(18): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2726 | chr1 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65436702 | A | AAAACAAC | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00621.hp2 others(77): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0026 others(77): Show |
80 | 202 | 0.3960 | 7 | c.107 others(28): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78762652 | C | CGCCCTGT | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02896.hp2 |
a0021 | a0021c0020 | a0021c0020t0001 | a0021c0020t0001g0025 a0021c0020t0001g0343 |
3 | 377 | 0.0080 | 7 | c.474 others(22): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 22/23 | chr15 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64514156 | A | ATGCTAGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(255): Show |
260 | 284 | 0.9155 | 7 | c.*29 others(18): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1497 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(35): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0020others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0089 others(35): Show |
38 | 50 | 0.7600 | 7 | c.*6- others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACCC | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02083.hp2 NA18946.hp2 |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0021 | a0001c0001t0001a0002c0002t0003a0010c0021t0002 | a0001c0001t0001g0103 a0002c0002t0003g0078 a0010c0021t0002g0135 |
3 | 216 | 0.0139 | 7 | c.-52 others(18): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18516087 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00733.hp2 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0008a0002c0078a0006c0073others(1): Show | a0001c0008t0002a0001c0008t0004a0002c0078t0001others(2): Show | a0001c0008t0002g0069 a0001c0008t0002g0070 a0001c0008t0004g0056 others(3): Show |
6 | 74 | 0.0811 | 7 | c.191 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18522580 | T | TCCCTCCC | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0005a0001c0007a0002c0004 | a0001c0005t0004a0001c0005t0014a0001c0007t0004others(1): Show | a0001c0005t0004g0020 a0001c0005t0014g0018 a0001c0007t0004g0017 others(1): Show |
4 | 216 | 0.0185 | 7 | c.192 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18824690 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG02572.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0024a0001c0049a0002c0001others(3): Show | a0001c0024t0001a0001c0049t0001a0002c0001t0001others(5): Show | a0001c0024t0001g0174 a0001c0049t0001g0148 a0002c0001t0001g0210 others(6): Show |
9 | 34 | 0.2647 | 7 | c.393 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18828660 | T | TTTATATA | intron_variant | MODIFIER | HG01978.hp1 HG02572.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0001others(1): Show | a0001c0002t0004a0001c0007t0001a0002c0001t0002others(1): Show | a0001c0002t0004g0046 a0001c0007t0001g0191 a0002c0001t0002g0203 others(1): Show |
4 | 67 | 0.0597 | 7 | c.411 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18894345 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(102): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0001c0005others(47): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(72): Show | a0001c0002t0002g0066 a0001c0002t0002g0108 a0001c0002t0002g0131 others(102): Show |
105 | 155 | 0.6774 | 7 | c.485 others(26): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133576789 | T | TTTCCCCC | downstream_gene_variant | MODIFIER | HG01943.hp1 HG03492.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0131 a0001c0007t0001g0142 |
2 | 80 | 0.0250 | 7 | c.*19 others(18): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1271 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133576789 | T | TTTTCCCC | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0028a0002c0009 | a0001c0001t0001a0001c0028t0001a0002c0009t0001 | a0001c0001t0001g0052 a0001c0028t0001g0116 a0002c0009t0001g0124 others(1): Show |
4 | 82 | 0.0488 | 7 | c.*19 others(18): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1271 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133576789 | T | TTTTTCCC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0030 | a0001c0001t0001a0001c0011t0001a0005c0030t0013 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show |
11 | 89 | 0.1236 | 7 | c.*19 others(18): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1271 | chr9 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83650827 | C | CTAGCAGT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp2 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0058a0002c0002others(8): Show | a0001c0001t0001a0001c0058t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0058t0001g0032 others(27): Show |
30 | 272 | 0.1103 | 7 | c.-34 others(18): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3295 | chr15 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83903242 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
a0001a0002a0004others(16): Show | a0001c0015a0002c0002a0002c0020others(22): Show | a0001c0015t0001a0002c0002t0001a0002c0002t0003others(26): Show | a0001c0015t0001g0065 a0002c0002t0001g0013 a0002c0002t0001g0021 others(86): Show |
89 | 157 | 0.5669 | 7 | c.170 others(26): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45124766 | G | GGTGATGT | intron_variant | MODIFIER | NA18747.hp1 NA18941.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022a0001c0001t0066 | a0001c0001t0003g0300 a0001c0001t0022g0005 a0001c0001t0022g0232 others(1): Show |
5 | 336 | 0.0149 | 7 | c.-21 others(26): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1180666 | C | CCCCTCTG | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0029a0001c0001t0030a0001c0001t0049others(34): Show | a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0049g0040 others(52): Show |
55 | 106 | 0.5189 | 7 | c.*25 others(18): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 10/10 | 2526 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1236584 | T | TACTCCCC | intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0043 | a0002c0002t0005g0033 a0002c0002t0043g0053 |
2 | 100 | 0.0200 | 7 | c.136 others(26): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1325930 | A | AACGCCTC | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01243.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0036others(5): Show | a0001c0001t0001g0078 a0001c0001t0011g0026 a0001c0001t0036g0072 others(5): Show |
8 | 106 | 0.0755 | 7 | c.107 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1576849 | G | GGCCCCAT | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01243.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(28): Show | a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0010g0013 others(31): Show |
34 | 106 | 0.3208 | 7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1617574 | C | CCTGCCCG | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG03540.hp1 |
a0001a0007 | a0001c0003a0007c0013 | a0001c0003t0001a0001c0003t0039a0007c0013t0020 | a0001c0003t0001g0052 a0001c0003t0039g0044 a0007c0013t0020g0037 |
3 | 106 | 0.0283 | 7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154598067 | T | TCCCACCA | intron_variant | MODIFIER | NA18988.hp1 NA19056.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0103 |
3 | 414 | 0.0072 | 7 | c.178 others(22): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154610808 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(37): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0003g0005 a0001c0001t0003g0134 a0001c0001t0003g0135 others(25): Show |
40 | 273 | 0.1465 | 7 | c.-28 others(18): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2623 | chr1 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75596712 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0014a0001c0008t0065 | a0001c0001t0002g0260 a0001c0001t0002g0281 a0001c0001t0002g0292 others(5): Show |
9 | 58 | 0.1552 | 7 | c.*35 others(18): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 155 | chr16 | TogoVar | |||||||
ADA_chr20_44614522_44656699 | 44646457 | A | AGGAGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(135): Show |
180 | 326 | 0.5521 | 7 | c.33+ others(22): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77821891 | G | GAAAAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0002g0008 a0001c0001t0002g0072 a0001c0002t0001g0007 others(6): Show |
9 | 81 | 0.1111 | 7 | c.136 others(22): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77842448 | T | TTTTTTCC | intron_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0022 others(6): Show |
9 | 207 | 0.0435 | 7 | c.220 others(26): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852908 | T | TATATATA | intron_variant | MODIFIER | HG02886.hp2 NA18945.hp1 NA18961.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0225 a0001c0002t0001g0282 a0001c0003t0001g0044 |
3 | 274 | 0.0109 | 7 | c.220 others(24): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | chr14 | TogoVar |