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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM7_chr8_24436026_24514565 | 24499305 | A | C | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
a0002a0003a0004others(8): Show | a0002c0003a0002c0007a0002c0012others(18): Show | a0002c0003t0001a0002c0003t0012a0002c0003t0015others(20): Show | a0002c0003t0001g0001a0002c0003t0001g0012a0002c0003t0001g0013others(103): Show | 121 | 360 | 0.3361 | 0 | c.191 others(4): Show |
p.Asn others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 17/22 | 1995/3367 | 1912/2265 | 638/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24500837 | G | A | missense_variant | MODERATE | NA18993.hp1 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0123 | 1 | 360 | 0.0028 | 0 | c.205 others(4): Show |
p.Gly others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 19/22 | 2133/3367 | 2050/2265 | 684/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24501572 | T | C | missense_variant | MODERATE | HG02258.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008a0005c0006t0001g0037a0005c0006t0001g0038others(6): Show | 10 | 360 | 0.0278 | 0 | c.220 others(4): Show |
p.Leu others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/22 | 2287/3367 | 2204/2265 | 735/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24507484 | C | T | missense_variant | MODERATE | HG02647.hp2 NA19240.hp1 |
a0006 | a0006c0014 | a0006c0014t0005 | a0006c0014t0005g0026 | 2 | 360 | 0.0056 | 0 | c.221 others(4): Show |
p.Pro others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 21/22 | 2296/3367 | 2213/2265 | 738/754 | chr8 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133263747 | C | T | missense_variant | MODERATE | HG03195.hp2 | a0023 | a0023c0034 | a0023c0034t0001 | a0023c0034t0001g0117 | 1 | 386 | 0.0026 | 0 | c.233 others(4): Show |
p.Ala others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 22/23 | 2389/3259 | 2338/2475 | 780/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133263761 | A | G | missense_variant | MODERATE | HG00733.hp2 HG00735.hp2 HG01069.hp2 others(22): Show |
a0003a0006 | a0003c0004a0003c0012a0006c0008 | a0003c0004t0003a0003c0012t0003a0006c0008t0003 | a0003c0004t0003g0020a0003c0004t0003g0040a0003c0004t0003g0041others(12): Show | 25 | 386 | 0.0648 | 0 | c.232 others(4): Show |
p.Ile others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 22/23 | 2375/3259 | 2324/2475 | 775/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133267369 | G | A | missense_variant | MODERATE | NA18990.hp2 | a0022 | a0022c0032 | a0022c0032t0001 | a0022c0032t0001g0086 | 1 | 386 | 0.0026 | 0 | c.230 others(4): Show |
p.Arg others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/23 | 2353/3259 | 2302/2475 | 768/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133267960 | G | A | missense_variant | MODERATE | NA18967.hp2 NA19007.hp1 NA19080.hp2 others(1): Show |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0028a0009c0011t0001g0093a0009c0011t0001g0103 | 4 | 386 | 0.0104 | 0 | c.222 others(4): Show |
p.Ser others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2273/3259 | 2222/2475 | 741/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133267966 | G | A | missense_variant | MODERATE | HG00558.hp1 HG02135.hp1 NA18962.hp1 |
a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0029a0010c0014t0001g0087 | 3 | 386 | 0.0078 | 0 | c.221 others(4): Show |
p.Pro others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2267/3259 | 2216/2475 | 739/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133268017 | C | A | missense_variant | MODERATE | HG00597.hp2 NA18612.hp2 NA18950.hp1 others(3): Show |
a0005 | a0005c0009a0005c0033 | a0005c0009t0001a0005c0033t0001 | a0005c0009t0001g0015a0005c0009t0001g0088a0005c0009t0001g0092others(1): Show | 6 | 386 | 0.0155 | 0 | c.216 others(4): Show |
p.Gly others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2216/3259 | 2165/2475 | 722/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133268026 | G | A | missense_variant | MODERATE | HG00597.hp2 NA18612.hp2 NA18950.hp1 others(3): Show |
a0005 | a0005c0009a0005c0033 | a0005c0009t0001a0005c0033t0001 | a0005c0009t0001g0015a0005c0009t0001g0088a0005c0009t0001g0092others(1): Show | 6 | 386 | 0.0155 | 0 | c.215 others(4): Show |
p.Pro others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2207/3259 | 2156/2475 | 719/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133268054 | C | T | missense_variant | MODERATE | HG03098.hp2 | a0021 | a0021c0024 | a0021c0024t0003 | a0021c0024t0003g0127 | 1 | 386 | 0.0026 | 0 | c.212 others(4): Show |
p.Val others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2179/3259 | 2128/2475 | 710/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133268114 | C | T | missense_variant | MODERATE | HG02155.hp1 HG02523.hp2 |
a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0045 | 2 | 386 | 0.0052 | 0 | c.206 others(4): Show |
p.Val others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 20/23 | 2119/3259 | 2068/2475 | 690/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133268842 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(311): Show |
a0001a0004a0005others(19): Show | a0001c0001a0001c0002a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(135): Show | 314 | 386 | 0.8135 | 0 | c.196 others(4): Show |
p.Phe others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 19/23 | 2020/3259 | 1969/2475 | 657/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133269492 | C | T | missense_variant | MODERATE | NA18957.hp1 | a0029 | a0029c0039 | a0029c0039t0002 | a0029c0039t0002g0162 | 1 | 386 | 0.0026 | 0 | c.190 others(4): Show |
p.Gly others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 18/23 | 1952/3259 | 1901/2475 | 634/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133269520 | G | A | missense_variant | MODERATE | HG03195.hp2 | a0023 | a0023c0034 | a0023c0034t0001 | a0023c0034t0001g0117 | 1 | 386 | 0.0026 | 0 | c.187 others(4): Show |
p.His others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 18/23 | 1924/3259 | 1873/2475 | 625/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133270403 | G | A | missense_variant | MODERATE | NA18971.hp1 | a0024 | a0024c0035 | a0024c0035t0001 | a0024c0035t0001g0148 | 1 | 386 | 0.0026 | 0 | c.174 others(4): Show |
p.Ala others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 16/23 | 1793/3259 | 1742/2475 | 581/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133270457 | C | T | missense_variant | MODERATE | HG02132.hp2 | a0020 | a0020c0031 | a0020c0031t0001 | a0020c0031t0001g0061 | 1 | 386 | 0.0026 | 0 | c.168 others(4): Show |
p.Arg others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 16/23 | 1739/3259 | 1688/2475 | 563/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133270977 | C | T | missense_variant | MODERATE | HG03579.hp1 HG03579.hp2 |
a0012 | a0012c0015 | a0012c0015t0006a0012c0015t0007 | a0012c0015t0006g0174a0012c0015t0007g0175 | 2 | 386 | 0.0052 | 0 | c.146 others(4): Show |
p.Ala others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 14/23 | 1519/3259 | 1468/2475 | 490/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133271029 | C | A | missense_variant | MODERATE | HG02071.hp1 | a0019 | a0019c0036 | a0019c0036t0001 | a0019c0036t0001g0105 | 1 | 386 | 0.0026 | 0 | c.141 others(4): Show |
p.Met others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 14/23 | 1467/3259 | 1416/2475 | 472/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133271277 | G | A | missense_variant | MODERATE | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(9): Show |
a0004 | a0004c0005a0004c0026 | a0004c0005t0002a0004c0026t0002 | a0004c0005t0002g0011a0004c0005t0002g0037a0004c0005t0002g0123others(5): Show | 12 | 386 | 0.0311 | 0 | c.129 others(4): Show |
p.Arg others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 13/23 | 1348/3259 | 1297/2475 | 433/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133271584 | C | T | missense_variant | MODERATE | HG02895.hp1 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0059 | 1 | 386 | 0.0026 | 0 | c.122 others(4): Show |
p.Val others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 12/23 | 1279/3259 | 1228/2475 | 410/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133271623 | C | T | missense_variant | MODERATE | HG00558.hp2 | a0025 | a0025c0029 | a0025c0029t0001 | a0025c0029t0001g0058 | 1 | 386 | 0.0026 | 0 | c.118 others(4): Show |
p.Ala others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 12/23 | 1240/3259 | 1189/2475 | 397/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273262 | G | A | missense_variant | MODERATE | HG01070.hp2 HG01099.hp2 HG01168.hp2 others(2): Show |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0010a0007c0010t0001g0107 | 5 | 386 | 0.0130 | 0 | c.565 others(3): Show |
p.Arg others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 6/23 | 616/3259 | 565/2475 | 189/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273288 | G | A | missense_variant | MODERATE | HG02027.hp2 | a0017 | a0017c0040 | a0017c0040t0001 | a0017c0040t0001g0153 | 1 | 386 | 0.0026 | 0 | c.539 others(3): Show |
p.Pro others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 6/23 | 590/3259 | 539/2475 | 180/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273354 | T | C | missense_variant | MODERATE | HG02809.hp1 | a0026 | a0026c0027 | a0026c0027t0002 | a0026c0027t0002g0142 | 1 | 386 | 0.0026 | 0 | c.473 others(3): Show |
p.Glu others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 6/23 | 524/3259 | 473/2475 | 158/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273431 | C | G | missense_variant | MODERATE | HG02965.hp1 | a0016 | a0016c0021 | a0016c0021t0002 | a0016c0021t0002g0157 | 1 | 386 | 0.0026 | 0 | c.396 others(3): Show |
p.Gln others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 6/23 | 447/3259 | 396/2475 | 132/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273801 | G | A | missense_variant | MODERATE | NA18942.hp2 NA19078.hp2 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0109a0011c0018t0001g0121 | 2 | 386 | 0.0052 | 0 | c.344 others(3): Show |
p.Pro others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 5/23 | 395/3259 | 344/2475 | 115/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273822 | T | C | missense_variant | MODERATE | HG01433.hp1 | a0027 | a0027c0037 | a0027c0037t0001 | a0027c0037t0001g0110 | 1 | 386 | 0.0026 | 0 | c.323 others(3): Show |
p.Gln others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 5/23 | 374/3259 | 323/2475 | 108/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133273956 | C | T | missense_variant | MODERATE | HG01106.hp1 HG02055.hp2 |
a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0056a0013c0016t0001g0116 | 2 | 386 | 0.0052 | 0 | c.301 others(3): Show |
p.Gly others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 4/23 | 352/3259 | 301/2475 | 101/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133275527 | C | T | missense_variant | MODERATE | NA20300.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0050 | 1 | 386 | 0.0026 | 0 | c.107 others(3): Show |
p.Arg others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 2/23 | 158/3259 | 107/2475 | 36/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133275531 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(338): Show |
a0001a0003a0004others(23): Show | a0001c0001a0001c0002a0001c0007others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(154): Show | 341 | 386 | 0.8834 | 0 | c.103 others(3): Show |
p.Trp others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 2/23 | 154/3259 | 103/2475 | 35/824 | chr10 | TogoVar | ||
ADAM8_chr10_133257423_133281868 | 133275573 | G | A | missense_variant | MODERATE | HG01516.hp2 | a0030 | a0030c0041 | a0030c0041t0001 | a0030c0041t0001g0154 | 1 | 386 | 0.0026 | 0 | c.61C others(2): Show |
p.Arg others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 2/23 | 112/3259 | 61/2475 | 21/824 | chr10 | TogoVar | ||
ADAM9_chr8_38991973_39110261 | 38997149 | C | T | missense_variant | MODERATE | HG01123.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0292 | 1 | 332 | 0.0030 | 0 | c.86C others(2): Show |
p.Ala others(5): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 1/22 | 177/4112 | 86/2460 | 29/819 | chr8 | TogoVar | ||
ADAM9_chr8_38991973_39110261 | 39021671 | C | T | missense_variant | MODERATE | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(11): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0002a0002c0010t0002 | a0002c0002t0002g0130a0002c0002t0002g0187a0002c0002t0002g0188others(11): Show | 14 | 332 | 0.0422 | 0 | c.701 others(3): Show |
p.Ala others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 8/22 | 792/4112 | 701/2460 | 234/819 | chr8 | TogoVar | ||
ADAM9_chr8_38991973_39110261 | 39026784 | G | T | missense_variant | MODERATE | NA19066.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0163 | 1 | 332 | 0.0030 | 0 | c.110 others(4): Show |
p.Lys others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 11/22 | 1195/4112 | 1104/2460 | 368/819 | chr8 | TogoVar | ||
ADAM9_chr8_38991973_39110261 | 39054572 | G | A | missense_variant others(1): Show |
MODERATE | NA18963.hp2 NA19064.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0301a0003c0004t0001g0302 | 2 | 332 | 0.0060 | 0 | c.139 others(4): Show |
p.Arg others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 13/22 | 1485/4112 | 1394/2460 | 465/819 | chr8 | TogoVar | ||
ADAM9_chr8_38991973_39110261 | 39090082 | T | G | missense_variant | MODERATE | HG02717.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0120 | 1 | 332 | 0.0030 | 0 | c.210 others(4): Show |
p.Phe others(6): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 19/22 | 2195/4112 | 2104/2460 | 702/819 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24392292 | C | T | missense_variant | MODERATE | HG02615.hp1 HG03579.hp1 |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0063a0005c0006t0004g0064 | 2 | 404 | 0.0050 | 0 | c.119 others(3): Show |
p.Thr others(5): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 2/14 | 339/2348 | 119/1413 | 40/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24392304 | T | G | missense_variant | MODERATE | HG03098.hp1 | a0010 | a0010c0007 | a0010c0007t0009 | a0010c0007t0009g0113 | 1 | 404 | 0.0025 | 0 | c.131 others(3): Show |
p.Ile others(5): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 2/14 | 351/2348 | 131/1413 | 44/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24393296 | T | C | missense_variant | MODERATE | HG01167.hp1 HG01169.hp2 HG02258.hp2 others(6): Show |
a0003a0004 | a0003c0004a0004c0005a0004c0008 | a0003c0004t0005a0004c0005t0002a0004c0008t0011 | a0003c0004t0005g0016a0003c0004t0005g0166a0004c0005t0002g0055others(1): Show | 9 | 404 | 0.0223 | 0 | c.242 others(3): Show |
p.Ile others(5): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 3/14 | 462/2348 | 242/1413 | 81/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24394131 | C | T | missense_variant | MODERATE | HG04184.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0029 | 1 | 404 | 0.0025 | 0 | c.347 others(3): Show |
p.Thr others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 4/14 | 567/2348 | 347/1413 | 116/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24394146 | T | C | missense_variant others(1): Show |
MODERATE | HG01167.hp1 HG01169.hp2 HG02258.hp2 others(7): Show |
a0003a0004a0010 | a0003c0004a0004c0005a0004c0008others(1): Show | a0003c0004t0005a0004c0005t0002a0004c0008t0011others(1): Show | a0003c0004t0005g0016a0003c0004t0005g0166a0004c0005t0002g0055others(2): Show | 10 | 404 | 0.0248 | 0 | c.362 others(3): Show |
p.Met others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 4/14 | 582/2348 | 362/1413 | 121/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24398874 | A | C | missense_variant others(1): Show |
MODERATE | HG01433.hp2 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0001 | 1 | 404 | 0.0025 | 0 | c.763 others(3): Show |
p.Ile others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 983/2348 | 763/1413 | 255/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24402033 | C | T | missense_variant | MODERATE | HG00639.hp2 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0110 | 1 | 404 | 0.0025 | 0 | c.126 others(4): Show |
p.Pro others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 12/14 | 1481/2348 | 1261/1413 | 421/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24402087 | C | T | missense_variant | MODERATE | HG02451.hp1 HG02809.hp2 HG02922.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0016a0003c0004t0005g0166 | 6 | 404 | 0.0149 | 0 | c.131 others(4): Show |
p.Pro others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 12/14 | 1535/2348 | 1315/1413 | 439/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24404013 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(105): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0013 | a0002c0002t0002a0002c0002t0006a0002c0002t0012others(3): Show | a0002c0002t0002g0002a0002c0002t0002g0003a0002c0002t0002g0014others(37): Show | 108 | 404 | 0.2673 | 0 | c.133 others(4): Show |
p.Asn others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 13/14 | 1551/2348 | 1331/1413 | 444/470 | chr8 | TogoVar | ||
ADAMDEC1_chr8_24379285_24411013 | 24404034 | C | T | missense_variant | MODERATE | HG01168.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0008 | 1 | 404 | 0.0025 | 0 | c.135 others(4): Show |
p.Thr others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 13/14 | 1572/2348 | 1352/1413 | 451/470 | chr8 | TogoVar | ||
ADAMTS10_chr19_8575240_8615715 | 8580902 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0009others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(368): Show | 383 | 384 | 0.9974 | 0 | c.330 others(4): Show |
p.His others(7): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 26/26 | 3589/4251 | 3303/3312 | 1101/1103 | chr19 | TogoVar | ||
ADAMTS10_chr19_8575240_8615715 | 8580943 | T | C | missense_variant | MODERATE | NA19062.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0146 | 1 | 384 | 0.0026 | 0 | c.326 others(4): Show |
p.Ser others(7): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 26/26 | 3548/4251 | 3262/3312 | 1088/1103 | chr19 | TogoVar |