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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0005 | a0002c0005t0032 | a0002c0005t0032g0186 | 1 | 65 | 0.0154 | 18 | c.114 others(37): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126113687 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0237 | 1 | 133 | 0.0075 | 18 | c.604 others(35): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126136105 | A | AGAGGAAG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00597.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0002t0014a0001c0002t0015others(20): Show | a0001c0002t0001g0139 a0001c0002t0014g0016 a0001c0002t0015g0088 others(24): Show |
27 | 250 | 0.1080 | 18 | c.340 others(33): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126243489 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG02027.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0018a0001c0003t0005a0001c0004t0035others(6): Show | a0001c0002t0018g0108 a0001c0003t0005g0130 a0001c0004t0035g0243 others(7): Show |
10 | 22 | 0.4545 | 18 | c.260 others(37): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126364296 | A | AATAATTT others(11): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19011.hp2 NA19063.hp2 others(1): Show |
a0002a0004 | a0002c0001a0002c0005a0002c0006others(1): Show | a0002c0001t0018a0002c0005t0003a0002c0006t0006others(1): Show | a0002c0001t0018g0162 a0002c0005t0003g0104 a0002c0006t0006g0163 others(1): Show |
4 | 250 | 0.0160 | 18 | c.88+ others(35): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9489259 | A | ATTTTTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0049a0002c0003t0041 | a0001c0001t0049g0097 a0002c0003t0041g0057 |
2 | 70 | 0.0286 | 18 | c.*90 others(27): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 917 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0065 | a0001c0001t0008g0119 a0001c0001t0065g0141 |
2 | 95 | 0.0211 | 18 | c.957 others(33): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39655828 | C | CATAAAAA others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0011 | a0011c0024 | a0011c0024t0001 | a0011c0024t0001g0213 | 1 | 346 | 0.0029 | 18 | c.123 others(37): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 12/19 | chr8 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39701117 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02630.hp1 NA20300.hp1 |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0001a0005c0011t0001 | a0001c0002t0001g0011 a0001c0002t0001g0077 a0005c0011t0001g0190 |
3 | 63 | 0.0476 | 18 | c.190 others(37): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157497570 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0102 | 1 | 181 | 0.0055 | 18 | c.139 others(35): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157497590 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 NA21309.hp1 |
a0002a0007a0014 | a0002c0002a0007c0007a0014c0016 | a0002c0002t0046a0007c0007t0012a0014c0016t0003 | a0002c0002t0046g0147 a0007c0007t0012g0021 a0014c0016t0003g0301 |
3 | 198 | 0.0152 | 18 | c.139 others(35): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157498688 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0109 |
2 | 92 | 0.0217 | 18 | c.139 others(35): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
ADAM20_chr14_70517358_70540004 | 70536465 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01981.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
5 | 40 | 0.1250 | 18 | c.-18 others(29): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87982670 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA18990.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0001 | a0001c0001t0012g0093 a0001c0001t0012g0094 a0002c0002t0001g0198 |
3 | 150 | 0.0200 | 18 | c.323 others(35): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039449 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 199 | 0.0050 | 18 | c.324 others(37): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88113703 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0120 a0001c0001t0003g0153 a0001c0001t0010g0170 others(3): Show |
6 | 58 | 0.1034 | 18 | c.474 others(33): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88113703 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 53 | 0.0189 | 18 | c.474 others(33): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88113703 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 53 | 0.0189 | 18 | c.474 others(33): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88113703 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 53 | 0.0189 | 18 | c.474 others(33): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88162097 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02129.hp2 HG02965.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0081 others(6): Show |
9 | 37 | 0.2432 | 18 | c.190 others(35): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206473572 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01167.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0039 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 others(23): Show |
26 | 297 | 0.0875 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477891 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0078 | 1 | 261 | 0.0038 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477893 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 237 | 0.0042 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477895 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 215 | 0.0047 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477897 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 129 | 0.0078 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206477897 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 129 | 0.0078 | 18 | c.433 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM23_chr2_206438532_206626127 | 206540216 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0297 | 1 | 60 | 0.0167 | 18 | c.574 others(35): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG02895.hp2 others(4): Show |
a0001a0003a0017 | a0001c0002a0003c0006a0017c0029 | a0001c0002t0001a0001c0002t0003a0003c0006t0001others(1): Show | a0001c0002t0001g0038 a0001c0002t0001g0294 a0001c0002t0001g0295 others(4): Show |
7 | 284 | 0.0246 | 18 | c.151 others(35): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24353309 | T | TAAGAGTC others(11): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 346 | 0.0029 | 18 | c.224 others(35): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM29_chr4_174913358_174983180 | 174979234 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 191 | 0.0052 | 18 | c.*12 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1055 | chr4 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031 | 1 | 199 | 0.0050 | 18 | c.*12 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 199 | 0.0050 | 18 | c.*12 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 199 | 0.0050 | 18 | c.*12 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174979268 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 199 | 0.0050 | 18 | c.*12 others(29): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 1089 | chr4 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39154033 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02523.hp2 HG02622.hp1 others(16): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0007c0009 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0188 others(15): Show |
19 | 33 | 0.5758 | 18 | c.525 others(35): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24438304 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0149 | 1 | 102 | 0.0098 | 18 | c.-28 others(29): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2721 | chr8 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24477569 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(46): Show |
61 | 185 | 0.3297 | 18 | c.705 others(35): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02015.hp2 HG02155.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 a0001c0002t0001g0206 a0001c0002t0001g0207 |
3 | 34 | 0.0882 | 18 | c.320 others(35): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8610422 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG02976.hp2 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0002a0001c0001t0008a0010c0017t0004 | a0001c0001t0002g0367 a0001c0001t0008g0365 a0010c0017t0004g0366 |
3 | 117 | 0.0256 | 18 | c.-21 others(35): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02717.hp1 NA18946.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0124 a0001c0002t0001g0149 a0001c0002t0004g0123 others(1): Show |
4 | 58 | 0.0690 | 18 | c.-21 others(29): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33521422 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 222 | 0.0045 | 18 | c.*57 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2112 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33521424 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 220 | 0.0045 | 18 | c.*57 others(29): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2110 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33654874 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0086 | 1 | 24 | 0.0417 | 18 | c.119 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33655615 | T | TTAGTTTA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01261.hp2 HG01981.hp2 others(2): Show |
a0001a0005a0007 | a0001c0001a0001c0036a0005c0006others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0036t0004others(2): Show | a0001c0001t0003g0089 a0001c0001t0009g0201 a0001c0036t0004g0014 others(2): Show |
5 | 129 | 0.0388 | 18 | c.119 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33794613 | C | CAGTGCCT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01243.hp1 others(47): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(47): Show |
50 | 222 | 0.2252 | 18 | c.490 others(37): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671051 | T | TTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0130 | 1 | 351 | 0.0028 | 18 | c.-17 others(29): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1454 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70680476 | A | AAAGGTGG others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0064 | a0001c0064t0023 | a0001c0064t0023g0313 | 1 | 352 | 0.0028 | 18 | c.522 others(35): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70685785 | T | TGATTAAT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0097 | 1 | 352 | 0.0028 | 18 | c.522 others(37): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | C | CGGAGGGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02622.hp1 others(1): Show |
a0001a0003a0006 | a0001c0087a0001c0088a0003c0090others(1): Show | a0001c0087t0003a0001c0088t0002a0003c0090t0058others(1): Show | a0001c0087t0003g0297 a0001c0088t0002g0296 a0003c0090t0058g0299 others(1): Show |
4 | 316 | 0.0127 | 18 | c.523 others(37): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | C | CGGAGGGA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 HG02922.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0021a0002c0001others(4): Show | a0001c0002t0002a0001c0002t0007a0001c0021t0019others(5): Show | a0001c0002t0002g0241 a0001c0002t0007g0053 a0001c0002t0007g0054 others(7): Show |
10 | 322 | 0.0311 | 18 | c.523 others(37): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |