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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0010a0001c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0022a0001c0001t0002g0045a0001c0001t0002g0068others(75): Show | 78 | 332 | 0.2349 | 7 | c.318 others(26): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977400 | A | ATATATAT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0003 | a0003c0006 | a0003c0006t0021 | a0003c0006t0021g0088a0003c0006t0021g0089 | 2 | 228 | 0.0088 | 7 | c.295 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100089837 | T | TGGGGGGA | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0021a0002c0001a0002c0055others(2): Show | a0001c0021t0016a0002c0001t0016a0002c0055t0014others(2): Show | a0001c0021t0016g0113a0002c0001t0016g0205a0002c0055t0014g0002others(2): Show | 5 | 228 | 0.0219 | 7 | c.213 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100094087 | G | GAAAAACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0007a0001c0010others(36): Show | a0001c0005t0002a0001c0005t0004a0001c0005t0009others(58): Show | a0001c0005t0002g0075a0001c0005t0002g0139a0001c0005t0004g0104others(74): Show | 77 | 228 | 0.3377 | 7 | c.213 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100209131 | A | AAAAAAGG | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01257.hp2 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0007others(11): Show | a0001c0002t0012a0001c0005t0012a0001c0007t0006others(14): Show | a0001c0002t0012g0106a0001c0005t0012g0211a0001c0007t0006g0202others(15): Show | 18 | 228 | 0.0790 | 7 | c.107 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334767 | A | AAATATAC | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
a0004a0022 | a0004c0003a0004c0029a0022c0030 | a0004c0003t0005a0004c0003t0011a0004c0029t0022others(1): Show | a0004c0003t0005g0317a0004c0003t0011g0155a0004c0029t0022g0305others(1): Show | 4 | 326 | 0.0123 | 7 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(46): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0016a0001c0024others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(30): Show | a0001c0001t0001g0119a0001c0001t0002g0037a0001c0001t0002g0232others(46): Show | 49 | 326 | 0.1503 | 7 | c.495 others(26): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129543955 | C | CCTTGTAT | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02486.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0008t0002a0001c0008t0004others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0118a0001c0008t0002g0013others(9): Show | 12 | 226 | 0.0531 | 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(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0002others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0118a0001c0001t0003g0159others(13): Show | 16 | 226 | 0.0708 | 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 | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0120others(2): Show | 5 | 226 | 0.0221 | 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 |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(21): Show | 24 | 306 | 0.0784 | 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 |
a0001a0008a0017 | a0001c0001a0001c0003a0008c0015others(1): Show | a0001c0001t0001a0001c0003t0001a0008c0015t0001others(1): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0003t0001g0132others(8): Show | 11 | 306 | 0.0360 | 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 |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0169a0001c0002t0001g0011a0001c0002t0001g0075others(35): Show | 38 | 306 | 0.1242 | 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 | a0001c0001t0001g0077a0001c0001t0001g0225a0001c0001t0001g0250others(3): Show | 6 | 306 | 0.0196 | 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 |
a0001a0007 | a0001c0003a0001c0009a0007c0013 | a0001c0003t0001a0001c0009t0001a0007c0013t0001 | a0001c0003t0001g0133a0001c0009t0001g0195a0007c0013t0001g0193others(1): Show | 4 | 306 | 0.0131 | 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 |
a0001a0005a0014others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0056others(47): Show | 50 | 306 | 0.1634 | 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 |
a0001a0003a0007 | a0001c0001a0001c0009a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0086a0001c0001t0001g0096others(17): Show | 20 | 306 | 0.0654 | 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 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(5): Show | 8 | 306 | 0.0261 | 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(12): Show | a0001c0050a0002c0017a0002c0028others(21): Show | a0001c0050t0001a0002c0017t0001a0002c0017t0004others(29): Show | a0001c0050t0001g0177a0002c0017t0001g0173a0002c0017t0004g0158others(54): Show | 57 | 276 | 0.2065 | 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 |
a0001a0002 | a0001c0014a0001c0075a0002c0030 | a0001c0014t0008a0001c0075t0020a0002c0030t0008 | a0001c0014t0008g0065a0001c0075t0020g0074a0002c0030t0008g0121 | 3 | 276 | 0.0109 | 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(3): Show | a0001c0014a0001c0068a0002c0007others(8): Show | a0001c0014t0002a0001c0014t0013a0001c0068t0001others(10): Show | a0001c0014t0002g0131a0001c0014t0013g0112a0001c0068t0001g0023others(12): Show | 15 | 276 | 0.0544 | 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 |
a0001a0003a0013 | a0001c0001a0001c0074a0003c0109others(1): Show | a0001c0001t0013a0001c0074t0004a0003c0109t0012others(1): Show | a0001c0001t0013g0021a0001c0074t0004g0062a0003c0109t0012g0203others(1): Show | 4 | 276 | 0.0145 | 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 |
a0001a0002a0007others(3): Show | a0001c0001a0002c0017a0007c0005others(3): Show | a0001c0001t0013a0002c0017t0001a0002c0017t0004others(4): Show | a0001c0001t0013g0021a0002c0017t0001g0173a0002c0017t0004g0158others(4): Show | 7 | 276 | 0.0254 | 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 |
a0001a0002a0004others(3): Show | a0001c0018a0002c0002a0004c0016others(6): Show | a0001c0018t0002a0002c0002t0001a0004c0016t0015others(6): Show | a0001c0018t0002g0178a0002c0002t0001g0113a0004c0016t0015g0252others(6): Show | 9 | 276 | 0.0326 | 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 |
a0002a0003a0004others(1): Show | a0002c0060a0003c0106a0004c0039others(2): Show | a0002c0060t0001a0003c0106t0002a0004c0039t0002others(2): Show | a0002c0060t0001g0091a0003c0106t0002g0210a0004c0039t0002g0204others(3): Show | 6 | 276 | 0.0217 | 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 | a0001c0004t0008 | a0001c0004t0008g0017a0001c0004t0008g0018 | 2 | 182 | 0.0110 | 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 |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0105others(25): Show | 28 | 182 | 0.1539 | 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 | a0001c0003t0003a0002c0002t0001a0002c0009t0001 | a0001c0003t0003g0022a0002c0002t0001g0087a0002c0009t0001g0084others(1): Show | 4 | 182 | 0.0220 | 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(37): Show |
a0003a0013 | a0003c0004a0003c0007a0003c0015others(2): Show | a0003c0004t0012a0003c0004t0016a0003c0004t0030others(26): Show | a0003c0004t0012g0009a0003c0004t0016g0022a0003c0004t0030g0044others(26): Show | 40 | 374 | 0.1070 | 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 | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0026others(77): Show | 80 | 204 | 0.3922 | 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 |
a0022 | a0022c0020 | a0022c0020t0001 | a0022c0020t0001g0020a0022c0020t0001g0353 | 3 | 380 | 0.0079 | 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(258): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(256): Show | 261 | 286 | 0.9126 | 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 | a0001c0001t0002g0083a0001c0001t0002g0088a0001c0001t0002g0089others(35): Show | 38 | 286 | 0.1329 | 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 |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0021 | a0001c0001t0001a0002c0002t0003a0008c0021t0002 | a0001c0001t0001g0103a0002c0002t0003g0078a0008c0021t0002g0135 | 3 | 286 | 0.0105 | 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 | a0001c0008t0002g0069a0001c0008t0002g0070a0001c0008t0004g0055others(3): Show | 6 | 218 | 0.0275 | 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 | a0001c0005t0004g0020a0001c0005t0014g0018a0001c0007t0004g0017others(1): Show | 4 | 218 | 0.0184 | 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 | a0001c0024t0001g0174a0001c0049t0001g0148a0002c0001t0001g0210others(6): Show | 9 | 218 | 0.0413 | 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 | a0001c0002t0004g0045a0001c0007t0001g0188a0002c0001t0002g0203others(1): Show | 4 | 218 | 0.0184 | 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(103): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0001c0005others(47): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(73): Show | a0001c0002t0002g0066a0001c0002t0002g0108a0001c0002t0002g0131others(103): Show | 106 | 218 | 0.4862 | 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 | a0001c0007t0001g0131a0001c0007t0001g0142 | 2 | 152 | 0.0132 | 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 | a0001c0001t0001g0052a0001c0028t0001g0116a0002c0009t0001g0124others(1): Show | 4 | 152 | 0.0263 | 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(9): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(9): Show | 12 | 152 | 0.0790 | 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 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0058t0001g0031others(27): Show | 30 | 274 | 0.1095 | 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 | a0001c0015t0001g0065a0002c0002t0001g0013a0002c0002t0001g0021others(86): Show | 89 | 274 | 0.3248 | 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 | a0001c0001t0003a0001c0001t0022a0001c0001t0067 | a0001c0001t0003g0300a0001c0001t0022g0005a0001c0001t0022g0232others(1): Show | 5 | 350 | 0.0143 | 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 | a0001c0001t0029g0031a0001c0001t0030g0034a0001c0001t0049g0040others(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 | a0002c0002t0005g0033a0002c0002t0043g0053 | 2 | 106 | 0.0189 | 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 | a0001c0001t0001g0078a0001c0001t0011g0026a0001c0001t0036g0072others(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 | a0001c0001t0001g0045a0001c0001t0001g0078a0001c0001t0010g0013others(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 |
a0001a0008 | a0001c0003a0008c0013 | a0001c0003t0001a0001c0003t0039a0008c0013t0020 | a0001c0003t0001g0052a0001c0003t0039g0044a0008c0013t0020g0037 | 3 | 106 | 0.0283 | 7 | c.100 others(28): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |