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 | 129522332 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02896.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0004 | a0001c0001t0001g0018 a0001c0001t0002g0015 a0001c0007t0004g0011 others(1): Show |
4 | 43 | 0.0930 | 8 | c.914 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01346.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0117 a0001c0001t0001g0136 others(18): Show |
21 | 60 | 0.3500 | 8 | c.914 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129550024 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(87): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(87): Show |
90 | 171 | 0.5263 | 8 | c.132 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129561819 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01261.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0142 a0001c0001t0001g0172 others(12): Show |
15 | 105 | 0.1429 | 8 | c.137 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578041 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01346.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0001others(3): Show | a0001c0001t0002g0020 a0001c0001t0002g0138 a0001c0003t0002g0209 others(6): Show |
9 | 110 | 0.0818 | 8 | c.137 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129602826 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0003g0160 others(7): Show |
10 | 80 | 0.1250 | 8 | c.147 others(27): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608090 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02970.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0008t0008 | a0001c0001t0001g0018 a0001c0001t0004g0047 a0001c0001t0004g0052 others(2): Show |
5 | 58 | 0.0862 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608114 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0002a0002c0002t0001others(2): Show | a0001c0001t0002g0019 a0001c0001t0002g0143 a0001c0003t0002g0206 others(7): Show |
10 | 189 | 0.0529 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03942.hp1 NA19087.hp2 |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0001a0002c0002t0002 | a0001c0001t0002g0138 a0001c0006t0001g0197 a0002c0002t0002g0085 |
3 | 71 | 0.0423 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0187 a0001c0001t0002g0190 |
3 | 71 | 0.0423 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02056.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0007 a0001c0001t0002g0175 a0001c0001t0002g0176 others(3): Show |
6 | 74 | 0.0811 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0012t0002a0002c0002t0011 | a0001c0001t0001g0009 a0001c0012t0002g0017 a0002c0002t0011g0222 |
3 | 71 | 0.0423 | 8 | c.147 others(29): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01934.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0002t0001a0005c0008t0001 | a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0072 others(10): Show |
13 | 51 | 0.2549 | 8 | c.428 others(27): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG03098.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0163 a0001c0002t0001g0121 others(7): Show |
10 | 31 | 0.3226 | 8 | c.428 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43411351 | G | GTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02145.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0015 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0175 others(9): Show |
12 | 252 | 0.0476 | 8 | c.428 others(29): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01255.hp1 others(10): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0001c0002t0002a0006c0010t0001 | a0001c0002t0001g0020 a0001c0002t0001g0051 a0001c0002t0001g0052 others(10): Show |
13 | 70 | 0.1857 | 8 | c.428 others(27): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01175.hp2 HG02145.hp2 others(5): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0002t0001g0110 others(5): Show |
8 | 24 | 0.3333 | 8 | c.867 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01516.hp1 others(4): Show |
a0001a0010 | a0001c0001a0001c0021a0010c0019 | a0001c0001t0001a0001c0021t0001a0010c0019t0003 | a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0125 others(4): Show |
7 | 39 | 0.1795 | 8 | c.613 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03704.hp1 HG04115.hp1 |
a0001a0003a0012 | a0001c0004a0003c0002a0012c0080 | a0001c0004t0026a0003c0002t0001a0012c0080t0012 | a0001c0004t0026g0181 a0003c0002t0001g0083 a0012c0080t0012g0192 |
3 | 13 | 0.2308 | 8 | c.892 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01978.hp2 HG02040.hp1 others(6): Show |
a0002a0003a0005others(1): Show | a0002c0003a0002c0005a0002c0010others(5): Show | a0002c0003t0002a0002c0005t0003a0002c0010t0003others(5): Show | a0002c0003t0002g0244 a0002c0005t0003g0261 a0002c0010t0003g0257 others(6): Show |
9 | 26 | 0.3462 | 8 | c.535 others(27): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179326201 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02027.hp1 HG02040.hp2 others(5): Show |
a0002a0003a0005others(1): Show | a0002c0006a0002c0016a0003c0007others(4): Show | a0002c0006t0001a0002c0016t0002a0002c0016t0015others(5): Show | a0002c0006t0001g0260 a0002c0016t0002g0234 a0002c0016t0015g0251 others(5): Show |
8 | 111 | 0.0721 | 8 | c.534 others(27): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01255.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0019others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0151 a0001c0001t0001g0153 others(8): Show |
11 | 47 | 0.2340 | 8 | c.293 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72371441 | G | GTAAATAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02647.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0011 a0001c0001t0001g0087 a0002c0009t0001g0022 others(1): Show |
4 | 75 | 0.0533 | 8 | c.662 others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72450922 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG02615.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0002a0002c0002t0001a0003c0007t0003 | a0001c0001t0002g0129 a0002c0002t0001g0167 a0003c0007t0003g0124 |
3 | 98 | 0.0306 | 8 | c.505 others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0056 others(33): Show |
36 | 93 | 0.3871 | 8 | c.505 others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72526570 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(47): Show |
50 | 60 | 0.8333 | 8 | c.504 others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72549986 | G | GAAAGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01928.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0017t0001 | a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0158 others(2): Show |
5 | 146 | 0.0342 | 8 | c.98- others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72549989 | G | GAAAGAAG others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0001 | a0001c0001t0008g0001 a0001c0003t0001g0127 |
2 | 179 | 0.0112 | 8 | c.98- others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG02165.hp2 HG03017.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0150a0003c0004t0012a0003c0004t0013others(1): Show | a0001c0001t0150g0114 a0003c0004t0012g0009 a0003c0004t0013g0010 others(1): Show |
10 | 72 | 0.1389 | 8 | c.*22 others(19): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26957447 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02896.hp1 others(4): Show |
a0001a0010a0018 | a0001c0001a0010c0013a0018c0022 | a0001c0001t0003a0001c0001t0103a0010c0013t0019others(1): Show | a0001c0001t0003g0317 a0001c0001t0103g0341 a0010c0013t0019g0035 others(4): Show |
7 | 82 | 0.0854 | 8 | c.110 others(27): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65196522 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122 a0001c0001t0002g0021 a0001c0001t0002g0078 others(3): Show |
6 | 42 | 0.1429 | 8 | c.270 others(25): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01167.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0025 others(19): Show |
22 | 72 | 0.3056 | 8 | c.227 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65248646 | T | TTAGCCGG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00735.hp2 others(145): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(145): Show |
148 | 196 | 0.7551 | 8 | c.183 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65256961 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02630.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0119 others(2): Show |
5 | 142 | 0.0352 | 8 | c.183 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275353 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0014 | a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0153 others(2): Show |
5 | 63 | 0.0794 | 8 | c.151 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65309591 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show |
4 | 92 | 0.0435 | 8 | c.122 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65319739 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0002 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 others(4): Show |
7 | 82 | 0.0854 | 8 | c.122 others(27): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02809.hp1 others(3): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0002a0001c0004t0002a0001c0007t0002others(2): Show | a0001c0001t0002g0162 a0001c0001t0002g0217 a0001c0004t0002g0240 others(3): Show |
6 | 18 | 0.3333 | 8 | c.*6- others(21): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64540798 | C | CTTCATTC others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG01934.hp1 others(18): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0009a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0016a0001c0009t0005others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0092 others(18): Show |
21 | 278 | 0.0755 | 8 | c.552 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 36/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64542430 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp2 HG01099.hp1 others(35): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0005others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(9): Show | a0001c0001t0001g0067 a0002c0002t0001g0121 a0002c0002t0003g0074 others(35): Show |
38 | 56 | 0.6786 | 8 | c.506 others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 32/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64556714 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0097 a0001c0001t0001g0101 others(52): Show |
56 | 96 | 0.5833 | 8 | c.469 others(27): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64689107 | C | CGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG02145.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0007t0013others(9): Show | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0012g0013 others(14): Show |
17 | 64 | 0.2656 | 8 | c.-14 others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1108 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01243.hp2 others(21): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(6): Show | a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 others(21): Show |
24 | 110 | 0.2182 | 8 | c.-51 others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(1): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 NA18988.hp2 NA19083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0002g0076 others(1): Show |
4 | 217 | 0.0184 | 8 | c.-52 others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01496.hp2 others(21): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0101 others(21): Show |
24 | 237 | 0.1013 | 8 | c.-52 others(19): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 NA21309.hp2 |
a0001a0002 | a0001c0005a0001c0007a0002c0001 | a0001c0005t0014a0001c0007t0004a0002c0001t0023 | a0001c0005t0014g0018 a0001c0007t0004g0017 a0002c0001t0023g0016 |
3 | 112 | 0.0268 | 8 | c.64- others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503980 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03195.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0005a0002c0001others(3): Show | a0001c0003t0003a0001c0005t0003a0002c0001t0023others(3): Show | a0001c0003t0003g0015 a0001c0005t0003g0011 a0002c0001t0023g0016 others(3): Show |
6 | 118 | 0.0508 | 8 | c.64- others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18574595 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0005others(25): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0002others(35): Show | a0001c0002t0008g0086 a0001c0003t0001g0146 a0001c0003t0001g0173 others(44): Show |
47 | 126 | 0.3730 | 8 | c.474 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02129.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0004a0001c0003t0002a0001c0007t0001others(7): Show | a0001c0002t0004g0091 a0001c0003t0002g0116 a0001c0007t0001g0170 others(8): Show |
11 | 60 | 0.1833 | 8 | c.475 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18656628 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0006a0001c0007others(7): Show | a0001c0003t0029a0001c0006t0001a0001c0007t0031others(7): Show | a0001c0003t0029g0025 a0001c0006t0001g0039 a0001c0007t0031g0140 others(8): Show |
11 | 152 | 0.0724 | 8 | c.835 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |