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 | 129608116 | G | GTGTA | intron_variant | MODIFIER | HG02273.hp1 HG03471.hp2 NA18948.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0001 | a0001c0001t0007g0041a0001c0003t0001g0208a0001c0003t0001g0212 | 3 | 226 | 0.0133 | 4 | 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 | 129610093 | T | TTATA | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0002 | a0001c0001t0001g0055a0001c0024t0002g0054 | 2 | 226 | 0.0089 | 4 | 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 | 129638576 | T | TACAC | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0009 | a0001c0001t0009g0044a0002c0002t0001g0110a0002c0002t0009g0111 | 3 | 226 | 0.0133 | 4 | c.177 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658309 | A | AAAAG | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG02055.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0001a0001c0019t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0150a0001c0019t0001g0127others(6): Show | 9 | 226 | 0.0398 | 4 | c.230 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129665979 | G | GTATA | intron_variant | MODIFIER | HG00438.hp1 HG02717.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0011t0001 | a0001c0001t0001g0118a0002c0002t0001g0086a0002c0002t0001g0087others(2): Show | 5 | 226 | 0.0221 | 4 | c.250 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129709657 | T | TAACA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(216): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(215): Show | 219 | 226 | 0.9690 | 4 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129714425 | C | CAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 NA18522.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0004a0006c0012t0001 | a0001c0001t0001g0025a0001c0001t0004g0050a0001c0001t0004g0052others(2): Show | 5 | 226 | 0.0221 | 4 | c.331 others(25): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129743442 | A | ATGTG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0002others(5): Show | a0001c0001t0002g0016a0001c0001t0002g0031a0001c0001t0002g0032others(15): Show | 18 | 226 | 0.0797 | 4 | c.*62 others(15): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 4760 | chr5 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26837211 | C | CTAAG | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0018a0001c0001t0047a0001c0005t0018 | a0001c0001t0018g0023a0001c0001t0047g0114a0001c0005t0018g0127 | 5 | 480 | 0.0104 | 4 | c.*36 others(13): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 9/9 | 367 | chr21 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43358953 | G | GTTAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01106.hp1 others(54): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(54): Show | 57 | 306 | 0.1863 | 4 | c.553 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43404178 | G | GACAC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00673.hp2 others(23): Show |
a0001a0004a0013 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0175a0001c0001t0002g0275a0001c0002t0001g0109others(23): Show | 26 | 306 | 0.0850 | 4 | c.428 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAA | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01109.hp2 others(22): Show |
a0001a0005a0015 | a0001c0001a0001c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0056a0001c0001t0001g0166others(22): Show | 25 | 306 | 0.0817 | 4 | c.428 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43426477 | C | CTAAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(132): Show | 135 | 306 | 0.4412 | 4 | c.410 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 27/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43445677 | T | TACAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(65): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(65): Show | 68 | 306 | 0.2222 | 4 | c.219 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 15/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501461 | A | ACGCG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp2 others(28): Show |
a0001a0005 | a0001c0002a0001c0011a0005c0010 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(2): Show | a0001c0002t0001g0011a0001c0002t0001g0089a0001c0002t0001g0092others(28): Show | 31 | 306 | 0.1013 | 4 | c.867 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCA | intron_variant | MODIFIER | HG00140.hp2 HG01934.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090a0001c0002t0001g0091a0001c0002t0001g0104others(1): Show | 4 | 306 | 0.0131 | 4 | c.867 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01081.hp1 others(41): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0027others(41): Show | 44 | 306 | 0.1438 | 4 | c.613 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43553983 | C | CTTTT | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02809.hp1 HG02896.hp2 others(5): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0170a0001c0003t0001g0180a0001c0009t0001g0192others(5): Show | 8 | 306 | 0.0261 | 4 | c.-20 others(15): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1781 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43553984 | T | TTTTC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01081.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(5): Show | 8 | 306 | 0.0261 | 4 | c.-20 others(15): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1782 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43554850 | T | TAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(12): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0006 | a0001c0002t0001a0001c0003t0001a0004c0006t0001 | a0001c0002t0001g0135a0001c0002t0001g0138a0001c0002t0001g0139others(12): Show | 15 | 306 | 0.0490 | 4 | c.-29 others(15): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2648 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179109318 | T | TAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0014others(82): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(109): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0011others(207): Show | 210 | 276 | 0.7609 | 4 | c.*45 others(15): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1534 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00735.hp1 others(39): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0024others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0024others(27): Show | a0001c0001t0004g0033a0001c0001t0004g0081a0001c0001t0004g0103others(39): Show | 42 | 276 | 0.1522 | 4 | c.163 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179176882 | G | GCCCT | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01106.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0035others(7): Show | a0001c0001t0001a0001c0004t0004a0001c0035t0004others(9): Show | a0001c0001t0001g0011a0001c0004t0004g0144a0001c0004t0004g0157others(15): Show | 18 | 276 | 0.0652 | 4 | c.975 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTT | intron_variant | MODIFIER | HG00423.hp2 HG02080.hp1 NA19084.hp1 |
a0001a0002a0003 | a0001c0004a0002c0008a0003c0003 | a0001c0004t0006a0002c0008t0001a0003c0003t0001 | a0001c0004t0006g0191a0002c0008t0001g0183a0003c0003t0001g0244 | 3 | 276 | 0.0109 | 4 | c.892 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179201631 | C | CAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0048others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0001g0066a0001c0001t0004g0064a0001c0001t0013g0021others(8): Show | 11 | 276 | 0.0399 | 4 | c.891 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179245778 | A | AAAAC | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02970.hp1 others(5): Show |
a0001a0002a0010others(3): Show | a0001c0014a0001c0068a0002c0029others(5): Show | a0001c0014t0008a0001c0068t0001a0002c0029t0014others(5): Show | a0001c0014t0008g0065a0001c0068t0001g0023a0002c0029t0014g0020others(5): Show | 8 | 276 | 0.0290 | 4 | c.688 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179254999 | T | TGATG | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01106.hp1 others(51): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0014others(37): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(45): Show | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0115others(51): Show | 54 | 276 | 0.1957 | 4 | c.688 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179283549 | C | CAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0004a0001c0052others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(12): Show | a0001c0001t0001g0100a0001c0001t0001g0115a0001c0001t0004g0064others(13): Show | 16 | 276 | 0.0580 | 4 | c.535 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179291730 | A | ATATT | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02486.hp2 others(3): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0065a0003c0109others(2): Show | a0001c0001t0004a0001c0065t0002a0003c0109t0012others(2): Show | a0001c0001t0004g0064a0001c0001t0004g0122a0001c0065t0002g0118others(3): Show | 6 | 276 | 0.0217 | 4 | c.535 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179293611 | T | TTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0004a0001c0014others(84): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(106): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0066others(159): Show | 162 | 276 | 0.5870 | 4 | c.535 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313292 | G | GCACA | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp2 HG01258.hp1 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0004a0002c0002a0002c0012others(12): Show | a0001c0004t0004a0002c0002t0004a0002c0002t0006others(14): Show | a0001c0004t0004g0157a0001c0004t0004g0187a0002c0002t0004g0123others(16): Show | 19 | 276 | 0.0688 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313382 | A | ACACT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(127): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0014others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(81): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0014others(127): Show | 130 | 276 | 0.4710 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313456 | G | GCACA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0014others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(71): Show | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0069others(102): Show | 105 | 276 | 0.3804 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313546 | A | ACACT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(81): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0014others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0083others(81): Show | 84 | 276 | 0.3044 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179326199 | T | TGTGC | intron_variant | MODIFIER | HG01167.hp2 HG02630.hp1 HG02886.hp2 others(3): Show |
a0001a0003a0015others(2): Show | a0001c0004a0003c0109a0015c0086others(3): Show | a0001c0004t0004a0003c0109t0012a0015c0086t0004others(3): Show | a0001c0004t0004g0144a0003c0109t0012g0203a0015c0086t0004g0201others(3): Show | 6 | 276 | 0.0217 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179326201 | C | CGTGT | intron_variant | MODIFIER | HG01978.hp2 HG02280.hp1 HG02300.hp1 others(7): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0008a0002c0031others(6): Show | a0002c0002t0004a0002c0008t0001a0002c0031t0001others(7): Show | a0002c0002t0004g0006a0002c0008t0001g0166a0002c0031t0001g0061others(7): Show | 10 | 276 | 0.0362 | 4 | c.534 others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179337886 | T | TCACA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(60): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0018others(28): Show | a0001c0001t0001a0001c0001t0024a0001c0004t0001others(39): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0069others(60): Show | 63 | 276 | 0.2283 | 4 | c.534 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179337886 | T | TCACC | intron_variant | MODIFIER | HG00408.hp1 NA18952.hp1 NA18954.hp1 others(3): Show |
a0014a0021a0022others(3): Show | a0014c0038a0021c0088a0022c0089others(3): Show | a0014c0038t0019a0021c0088t0003a0022c0089t0006others(3): Show | a0014c0038t0019g0213a0021c0088t0003g0214a0022c0089t0006g0217others(3): Show | 6 | 276 | 0.0217 | 4 | c.534 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179341729 | A | AAAAG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(46): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0022others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0054others(46): Show | 49 | 276 | 0.1775 | 4 | c.534 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72282399 | A | ATATC | 3_prime_UTR_variant | MODIFIER | HG03453.hp1 NA19043.hp2 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0026a0005c0018t0018 | a0001c0001t0026g0162a0005c0018t0018g0031 | 2 | 182 | 0.0110 | 4 | c.*73 others(13): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 22/22 | 736 | chr4 | TogoVar | |||||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACAC | intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG02074.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0107a0001c0001t0001g0109a0001c0001t0001g0110others(10): Show | 13 | 182 | 0.0714 | 4 | c.293 others(19): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72290267 | G | GTGTT | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0006a0009 | a0006c0016a0009c0014 | a0006c0016t0021a0009c0014t0031 | a0006c0016t0021g0029a0009c0014t0031g0074 | 2 | 182 | 0.0110 | 4 | c.293 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72299053 | C | CTGTG | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0075a0001c0001t0002g0020a0001c0001t0002g0067others(16): Show | 19 | 182 | 0.1044 | 4 | c.242 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72303292 | T | TGTGC | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0006a0009 | a0006c0016a0009c0014 | a0006c0016t0021a0009c0014t0031 | a0006c0016t0021g0029a0009c0014t0031g0074 | 2 | 182 | 0.0110 | 4 | c.242 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 17/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72333848 | C | CTTTT | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02055.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0073a0001c0001t0001g0093a0001c0001t0001g0112others(11): Show | 14 | 182 | 0.0769 | 4 | c.861 others(21): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 5/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72340316 | A | AGTGT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01167.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0075others(22): Show | 25 | 182 | 0.1374 | 4 | c.662 others(19): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72360535 | G | GTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02647.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0005a0002c0002t0001a0002c0009t0001others(1): Show | a0001c0001t0005g0011a0002c0002t0001g0087a0002c0009t0001g0084others(2): Show | 5 | 182 | 0.0275 | 4 | c.662 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72371441 | G | GTAAA | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG02027.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0071a0001c0001t0001g0113a0001c0001t0001g0114others(16): Show | 19 | 182 | 0.1044 | 4 | c.662 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72399726 | G | GTATA | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0008 | a0001c0003t0004g0159a0001c0004t0008g0017a0001c0004t0008g0018 | 3 | 182 | 0.0165 | 4 | c.661 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72399855 | T | TACGC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp2 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0083others(116): Show | 119 | 182 | 0.6539 | 4 | c.661 others(23): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar |