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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100184036 | T | TTGCTGC | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG03098.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0054a0003c0009others(2): Show | a0001c0007t0023a0002c0054t0014a0003c0009t0049others(2): Show | a0001c0007t0023g0215 a0002c0054t0014g0002 a0003c0009t0049g0086 others(2): Show |
5 | 221 | 0.0226 | 6 | c.118 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100236283 | T | TAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001a0002a0006 | a0001c0021a0001c0033a0002c0004others(1): Show | a0001c0021t0016a0001c0033t0015a0002c0004t0017others(1): Show | a0001c0021t0016g0113 a0001c0033t0015g0178 a0002c0004t0017g0128 others(2): Show |
5 | 50 | 0.1000 | 6 | c.107 others(27): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314625 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02602.hp2 others(6): Show |
a0006a0009a0010others(1): Show | a0006c0005a0009c0009a0010c0013others(1): Show | a0006c0005t0004a0006c0005t0012a0009c0009t0001others(2): Show | a0006c0005t0004g0157 a0006c0005t0012g0056 a0009c0009t0001g0020 others(6): Show |
9 | 193 | 0.0466 | 6 | c.253 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATAT | intron_variant | MODIFIER | HG00609.hp2 HG02027.hp2 HG02523.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0003c0002t0027others(2): Show | a0001c0001t0002g0075 a0001c0001t0003g0073 a0001c0001t0003g0104 others(3): Show |
6 | 61 | 0.0984 | 6 | c.253 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77326421 | T | TCCAACA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(136): Show |
a0001a0003a0006others(15): Show | a0001c0001a0001c0016a0001c0023others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(135): Show |
139 | 324 | 0.4290 | 6 | c.186 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77344155 | G | GTATATA | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp2 others(2): Show |
a0005a0019a0032 | a0005c0022a0019c0034a0032c0064 | a0005c0022t0001a0019c0034t0009a0032c0064t0001 | a0005c0022t0001g0207 a0005c0022t0001g0275 a0019c0034t0009g0252 others(2): Show |
5 | 217 | 0.0230 | 6 | c.161 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77355202 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(34): Show |
a0002a0003a0006others(5): Show | a0002c0007a0003c0002a0006c0005others(6): Show | a0002c0007t0003a0002c0007t0005a0003c0002t0006others(15): Show | a0002c0007t0003g0125 a0002c0007t0005g0005 a0003c0002t0006g0013 others(34): Show |
37 | 77 | 0.4805 | 6 | c.146 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77360581 | A | AAACATC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0002a0003a0004others(19): Show | a0002c0007a0002c0055a0002c0057others(25): Show | a0002c0007t0003a0002c0007t0005a0002c0007t0035others(55): Show | a0002c0007t0003g0069 a0002c0007t0003g0125 a0002c0007t0003g0133 others(133): Show |
136 | 324 | 0.4198 | 6 | c.121 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 7/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77365179 | A | AAACAAC | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(46): Show |
a0002a0003a0006others(5): Show | a0002c0007a0003c0002a0006c0005others(6): Show | a0002c0007t0003a0003c0002t0006a0006c0005t0004others(14): Show | a0002c0007t0003g0125 a0002c0007t0003g0133 a0003c0002t0006g0013 others(46): Show |
49 | 85 | 0.5765 | 6 | c.779 others(21): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77370790 | G | GATATAT | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02615.hp1 others(10): Show |
a0004a0012a0023others(1): Show | a0004c0003a0012c0012a0023c0032others(1): Show | a0004c0003t0005a0004c0003t0011a0004c0003t0033others(3): Show | a0004c0003t0005g0007 a0004c0003t0005g0008 a0004c0003t0005g0043 others(10): Show |
13 | 255 | 0.0510 | 6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77371218 | T | TAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(32): Show |
a0002a0005a0007others(6): Show | a0002c0007a0005c0004a0005c0052others(7): Show | a0002c0007t0003a0005c0004t0001a0005c0004t0015others(11): Show | a0002c0007t0003g0267 a0002c0007t0003g0268 a0005c0004t0001g0027 others(32): Show |
35 | 239 | 0.1464 | 6 | c.496 others(23): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77398319 | A | AAACAAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(31): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0007a0004c0029others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0003others(13): Show | a0001c0001t0001g0119 a0001c0001t0002g0128 a0002c0007t0003g0125 others(31): Show |
34 | 315 | 0.1079 | 6 | c.496 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77400458 | G | GTGTGTC | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 NA19043.hp2 |
a0002a0004 | a0002c0007a0004c0003 | a0002c0007t0003a0004c0003t0011 | a0002c0007t0003g0218 a0004c0003t0011g0042 a0004c0003t0011g0106 |
3 | 320 | 0.0094 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77411677 | A | ATTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG02622.hp1 others(4): Show |
a0001a0011a0012others(3): Show | a0001c0001a0011c0011a0012c0012others(3): Show | a0001c0001t0002a0011c0011t0009a0012c0012t0010others(3): Show | a0001c0001t0002g0037 a0001c0001t0002g0249 a0011c0011t0009g0105 others(4): Show |
7 | 167 | 0.0419 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01074.hp1 others(35): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0006a0002c0007others(15): Show | a0001c0001t0002a0001c0001t0040a0002c0006t0003others(19): Show | a0001c0001t0002g0134 a0001c0001t0002g0194 a0001c0001t0002g0209 others(35): Show |
38 | 208 | 0.1827 | 6 | c.495 others(25): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77436012 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp1 others(12): Show |
a0002a0003a0004others(6): Show | a0002c0007a0003c0002a0004c0003others(8): Show | a0002c0007t0005a0003c0002t0006a0003c0002t0007others(9): Show | a0002c0007t0005g0009 a0003c0002t0006g0130 a0003c0002t0007g0041 others(12): Show |
15 | 174 | 0.0862 | 6 | c.-13 others(17): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 979 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129459190 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0005a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0005g0221 a0001c0003t0001g0217 a0002c0004t0001g0095 others(1): Show |
4 | 59 | 0.0678 | 6 | c.-12 others(17): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 1107 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129461622 | T | TCCCGGC | conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(55): Show |
a0002 | a0002c0002a0002c0004a0002c0010others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0062 others(55): Show |
58 | 224 | 0.2589 | 6 | c.622 others(13): Show |
p.Gly others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 722/5201 | 628/3642 | 210/1213 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129492506 | A | AGTGTGT | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0041 a0001c0001t0002g0016 a0001c0003t0001g0214 others(2): Show |
5 | 141 | 0.0355 | 6 | c.748 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129504872 | G | GACACAC | intron_variant | MODIFIER | HG02056.hp1 NA19081.hp1 NA19082.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0119 a0001c0003t0001g0214 a0002c0002t0001g0105 |
3 | 18 | 0.1667 | 6 | c.748 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129510856 | G | GATATAT | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01167.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0009 a0001c0001t0002g0019 a0001c0001t0002g0020 others(7): Show |
10 | 145 | 0.0690 | 6 | c.913 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129522330 | C | CATATAT | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0002a0005c0018t0001 | a0001c0001t0002g0042 a0005c0018t0001g0208 |
2 | 202 | 0.0099 | 6 | c.914 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129522332 | C | CATATAT | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG02074.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0034 others(14): Show |
17 | 56 | 0.3036 | 6 | c.914 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578041 | T | TACACAC | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0028 a0001c0001t0002g0175 a0001c0001t0002g0176 others(10): Show |
13 | 114 | 0.1140 | 6 | 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 | 129602826 | C | CTCTGTG | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0185 |
3 | 73 | 0.0411 | 6 | c.147 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129602826 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00639.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0184 a0001c0001t0002g0019 others(27): Show |
30 | 100 | 0.3000 | 6 | c.147 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129607994 | C | CTATATA | intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 others(1): Show |
4 | 207 | 0.0193 | 6 | 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 | ATGTGTG | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0007a0001c0007t0002a0001c0007t0004others(2): Show | a0001c0001t0007g0114 a0001c0007t0002g0013 a0001c0007t0004g0011 others(3): Show |
6 | 59 | 0.1017 | 6 | 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 | 129608116 | G | GTGTATA | intron_variant | MODIFIER | HG01081.hp1 HG01978.hp2 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0002a0005c0018t0001 | a0001c0001t0002g0023 a0005c0018t0001g0208 |
2 | 70 | 0.0286 | 6 | 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 | 129608116 | G | GTGTGTA | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG02071.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0004others(1): Show | a0001c0001t0002a0001c0009t0001a0002c0004t0001others(1): Show | a0001c0001t0002g0180 a0001c0009t0001g0058 a0002c0004t0001g0112 others(1): Show |
4 | 72 | 0.0556 | 6 | 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 | 129658309 | A | AAGAGAG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01884.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0010a0001c0003t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0032 others(10): Show |
14 | 96 | 0.1458 | 6 | c.230 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129658321 | G | GAAAGAA | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0021 a0001c0001t0002g0039 a0001c0001t0002g0178 others(1): Show |
4 | 223 | 0.0179 | 6 | c.230 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129662888 | A | ATTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0010a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0031 others(8): Show |
12 | 107 | 0.1122 | 6 | c.242 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129665881 | C | CATATAT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0008 | a0001c0001t0001g0018 a0004c0008t0008g0049 a0004c0008t0008g0050 |
3 | 9 | 0.3333 | 6 | c.250 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43404178 | G | GACACAC | intron_variant | MODIFIER | HG00597.hp2 HG01256.hp1 HG01346.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0166 a0001c0002t0001g0053 a0001c0002t0001g0092 others(12): Show |
15 | 73 | 0.2055 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02698.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(10): Show |
13 | 51 | 0.2549 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0003a0011 | a0001c0002a0001c0003a0003c0006others(1): Show | a0001c0002t0002a0001c0003t0001a0003c0006t0001others(1): Show | a0001c0002t0002g0283 a0001c0002t0002g0287 a0001c0002t0002g0292 others(11): Show |
14 | 35 | 0.4000 | 6 | c.428 others(27): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421280 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG02071.hp2 HG02293.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 others(16): Show |
19 | 296 | 0.0642 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG02258.hp2 others(18): Show |
a0001a0004a0008others(2): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0002t0001g0121 a0001c0003t0001g0187 a0001c0003t0001g0203 others(18): Show |
21 | 78 | 0.2692 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CACAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(53): Show |
a0001a0010a0015 | a0001c0001a0001c0009a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(53): Show |
56 | 113 | 0.4956 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43421282 | C | CACACAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(32): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0005a0005c0008t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(32): Show |
35 | 92 | 0.3804 | 6 | c.428 others(25): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43445677 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(56): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0005a0005c0008t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(56): Show |
59 | 186 | 0.3172 | 6 | c.219 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 15/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43501055 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(112): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(112): Show |
115 | 131 | 0.8779 | 6 | c.867 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43501461 | A | ACGCGCG | intron_variant | MODIFIER | HG04204.hp2 NA18942.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0111 |
3 | 113 | 0.0265 | 6 | c.867 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43501479 | G | GCACACA | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0002g0294 others(5): Show |
8 | 252 | 0.0317 | 6 | c.867 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(18): Show |
a0001a0004a0008 | a0001c0001a0001c0009a0004c0007others(1): Show | a0001c0001t0001a0001c0009t0001a0004c0007t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0063 others(18): Show |
21 | 53 | 0.3962 | 6 | c.613 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43553983 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01175.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(18): Show |
21 | 88 | 0.2386 | 6 | c.-20 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1781 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179134725 | G | GGCTCCA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0018a0001c0022a0002c0016others(6): Show | a0001c0018t0002a0001c0022t0002a0002c0016t0002others(7): Show | a0001c0018t0002g0161 a0001c0018t0002g0176 a0001c0018t0002g0184 others(21): Show |
24 | 273 | 0.0879 | 6 | c.208 others(25): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135068 | G | GGCTCCA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(28): Show |
a0001a0002a0003others(6): Show | a0001c0014a0001c0018a0001c0022others(15): Show | a0001c0014t0002a0001c0018t0002a0001c0022t0002others(18): Show | a0001c0014t0002g0072 a0001c0018t0002g0161 a0001c0018t0002g0176 others(28): Show |
31 | 272 | 0.1140 | 6 | c.208 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0050a0002c0005a0002c0006others(20): Show | a0001c0050t0001a0002c0005t0003a0002c0006t0004others(25): Show | a0001c0050t0001g0175 a0002c0005t0003g0222 a0002c0005t0003g0229 others(49): Show |
52 | 127 | 0.4094 | 6 | c.163 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar |