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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CACACATA others(9): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0002 | a0001c0001t0001g0033a0001c0015t0002g0030 | 2 | 226 | 0.0089 | 16 | c.914 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CACATATA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 226 | 0.0044 | 16 | c.914 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129549917 | T | TCTAGATA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02056.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0002a0002c0002t0002a0002c0011t0001 | a0001c0001t0002g0180a0002c0002t0002g0078a0002c0011t0001g0095 | 3 | 226 | 0.0133 | 16 | c.132 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129608110 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0094 | 1 | 226 | 0.0044 | 16 | c.147 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608112 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010 | a0001c0001t0010g0029a0001c0003t0010g0202 | 2 | 226 | 0.0089 | 16 | c.147 others(37): 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(9): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 226 | 0.0044 | 16 | c.147 others(37): 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(9): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02683.hp1 NA18948.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0006 | a0001c0003t0001g0204a0001c0003t0001g0218a0002c0002t0001g0134others(1): Show | 4 | 226 | 0.0177 | 16 | c.147 others(37): 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(9): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0154a0001c0001t0002g0046a0001c0001t0015g0002 | 3 | 226 | 0.0133 | 16 | c.147 others(37): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129665881 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0013 | 1 | 226 | 0.0044 | 16 | c.250 others(33): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702937 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 226 | 0.0044 | 16 | c.316 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 226 | 0.0044 | 16 | c.316 others(35): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS1_chr21_26830755_26850409 | 26849664 | G | GTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0040a0001c0001t0016g0093 | 2 | 480 | 0.0042 | 16 | c.-47 others(27): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 4256 | chr21 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0301 | 1 | 306 | 0.0033 | 16 | c.428 others(37): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02080.hp2 NA18970.hp1 others(4): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0013c0018t0001 | a0001c0001t0001g0077a0001c0001t0001g0155a0001c0001t0001g0230others(4): Show | 7 | 306 | 0.0229 | 16 | c.428 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02615.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0003a0001c0002t0001g0075a0001c0002t0001g0094others(4): Show | 7 | 306 | 0.0229 | 16 | c.161 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01928.hp2 HG04204.hp1 NA19007.hp2 |
a0001a0002 | a0001c0002a0002c0020 | a0001c0002t0001a0001c0002t0002a0002c0020t0001 | a0001c0002t0001g0093a0001c0002t0002g0279a0002c0020t0001g0231 | 3 | 306 | 0.0098 | 16 | c.161 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02486.hp2 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0071a0001c0001t0003g0004a0001c0002t0001g0119 | 3 | 306 | 0.0098 | 16 | c.161 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATTT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 306 | 0.0033 | 16 | c.161 others(35): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501471 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 306 | 0.0033 | 16 | c.867 others(31): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501473 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 306 | 0.0033 | 16 | c.867 others(31): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501479 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0042others(12): Show | 15 | 306 | 0.0490 | 16 | c.867 others(31): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02293.hp1 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0047a0001c0001t0001g0060others(4): Show | 7 | 306 | 0.0229 | 16 | c.867 others(31): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01433.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0081others(1): Show | 4 | 306 | 0.0131 | 16 | c.867 others(31): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528347 | G | GAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0243 | 1 | 306 | 0.0033 | 16 | c.613 others(33): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0015 | a0015c0086 | a0015c0086t0004 | a0015c0086t0004g0201 | 1 | 276 | 0.0036 | 16 | c.163 others(33): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179223527 | C | CATGCACT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(177): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0014others(74): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(100): Show | a0001c0001t0001g0014a0001c0001t0001g0054a0001c0001t0001g0067others(177): Show | 180 | 276 | 0.6522 | 16 | c.689 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG02717.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0014a0001c0048a0002c0029others(2): Show | a0001c0014t0013a0001c0048t0004a0002c0029t0001others(2): Show | a0001c0014t0013g0112a0001c0048t0004g0195a0002c0029t0001g0132others(2): Show | 5 | 276 | 0.0181 | 16 | c.535 others(35): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72397562 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0017a0001c0004t0008g0018 | 2 | 182 | 0.0110 | 16 | c.661 others(35): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72417931 | T | TTAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0077a0001c0001t0001g0083a0001c0001t0001g0089others(77): Show | 80 | 182 | 0.4396 | 16 | c.505 others(33): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72455948 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(3): Show | a0001c0001t0001g0091a0001c0001t0002g0027a0001c0001t0002g0030others(5): Show | 8 | 182 | 0.0440 | 16 | c.505 others(35): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 182 | 0.0055 | 16 | c.505 others(35): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01943.hp2 others(12): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0021 | a0001c0001t0009a0001c0002t0004a0001c0002t0009others(1): Show | a0001c0001t0009g0130a0001c0002t0004g0004a0001c0002t0004g0203others(3): Show | 15 | 374 | 0.0401 | 16 | c.*22 others(27): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | |||||
ADAMTS5_chr21_26912922_26972088 | 26917447 | A | ATTGTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0132 | 1 | 398 | 0.0025 | 16 | c.*66 others(27): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 474 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65275353 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 204 | 0.0049 | 16 | c.151 others(35): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65319739 | G | GGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0091 | 2 | 204 | 0.0098 | 16 | c.122 others(35): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65372188 | T | TCGAGACT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01071.hp2 others(63): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(63): Show | 66 | 204 | 0.3235 | 16 | c.107 others(37): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517415 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 286 | 0.0035 | 16 | c.*6- others(29): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 286 | 0.0035 | 16 | c.*6- others(29): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp2 others(35): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0079others(34): Show | 38 | 286 | 0.1329 | 16 | c.*6- others(29): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64556714 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02148.hp2 HG03490.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0166a0001c0001t0001g0168others(3): Show | 6 | 286 | 0.0210 | 16 | c.469 others(35): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG02622.hp1 HG02647.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(4): Show | a0001c0001t0001g0018a0001c0001t0002g0224a0001c0001t0002g0247others(5): Show | 8 | 286 | 0.0280 | 16 | c.-51 others(27): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 286 | 0.0035 | 16 | c.-52 others(27): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0029 | a0029c0081 | a0029c0081t0003 | a0029c0081t0003g0002 | 1 | 218 | 0.0046 | 16 | c.64- others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18626839 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0164 | 1 | 218 | 0.0046 | 16 | c.601 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0127 | 1 | 218 | 0.0046 | 16 | c.157 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0151 | 1 | 218 | 0.0046 | 16 | c.157 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0026a0001c0056others(5): Show | a0001c0003t0001a0001c0026t0005a0001c0056t0003others(5): Show | a0001c0003t0001g0196a0001c0026t0005g0097a0001c0056t0003g0006others(5): Show | 8 | 218 | 0.0367 | 16 | c.157 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0006 | a0006c0014 | a0006c0014t0003 | a0006c0014t0003g0144 | 1 | 218 | 0.0046 | 16 | c.200 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02698.hp2 NA18969.hp2 others(1): Show |
a0001a0002a0007 | a0001c0003a0002c0001a0007c0022others(1): Show | a0001c0003t0015a0002c0001t0004a0007c0022t0001others(1): Show | a0001c0003t0015g0191a0002c0001t0004g0038a0007c0022t0001g0169others(1): Show | 4 | 218 | 0.0184 | 16 | c.221 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18838402 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02074.hp2 |
a0002a0003 | a0002c0016a0003c0020 | a0002c0016t0002a0003c0020t0001 | a0002c0016t0002g0151a0003c0020t0001g0205 | 2 | 218 | 0.0092 | 16 | c.424 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | chr9 | TogoVar |