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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM15_chr1_155046316_155067775 | 155060832 | G | A | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01074.hp1 HG01192.hp1 others(11): Show |
a0001a0003 | a0001c0010a0001c0012a0003c0007 | a0001c0010t0001a0001c0012t0001a0003c0007t0001 | a0001c0010t0001g0037 a0001c0010t0001g0090 a0001c0012t0001g0031 others(3): Show |
14 | 322 | 0.0435 | 0 | c.227 others(4): Show |
p.Lys others(6): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 19/23 | 2348/2936 | 2277/2592 | 759/863 | chr1 | TogoVar | |||
ADAM17_chr2_9483486_9560830 | 9536827 | G | C | missense_variant others(1): Show |
MODERATE | HG02965.hp1 NA20300.hp1 |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0016 | a0003c0004t0005g0159 a0003c0004t0016g0160 |
2 | 232 | 0.0086 | 0 | c.232 others(3): Show |
p.His others(5): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 3/19 | 457/4391 | 232/2475 | 78/824 | chr2 | TogoVar | |||
ADAM18_chr8_39579568_39735065 | 39606304 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(69): Show |
a0001a0005a0012 | a0001c0001a0001c0002a0005c0016others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0016t0001others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0139 others(67): Show |
72 | 346 | 0.2081 | 0 | c.133 others(5): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 2/19 | chr8 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39677543 | A | G | splice_region_variant others(1): Show |
LOW | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 346 | 0.0029 | 0 | c.163 others(6): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 15/19 | chr8 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157507147 | G | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0008a0004c0004t0010a0004c0004t0018others(1): Show | a0002c0002t0008g0291 a0004c0004t0010g0088 a0004c0004t0010g0237 others(5): Show |
8 | 308 | 0.0260 | 0 | c.906 others(5): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
ADAM20_chr14_70517358_70540004 | 70524933 | A | C | splice_region_variant | LOW | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(98): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0004others(1): Show | a0001c0001t0002a0001c0006t0002a0003c0004t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0013 others(16): Show |
101 | 398 | 0.2538 | 0 | c.-17 others(4): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 88125659 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0011 | 1 | 228 | 0.0044 | 0 | c.678 others(3): Show |
p.Gln others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 8/32 | 893/9508 | 678/2895 | 226/964 | chr7 | TogoVar | |||
ADAM22_chr7_87929251_88207889 | 88145408 | T | G | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0079 |
2 | 228 | 0.0088 | 0 | c.139 others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 16/31 | chr7 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 88145412 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(21): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(21): Show |
24 | 228 | 0.1053 | 0 | c.139 others(6): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 16/31 | chr7 | TogoVar | |||||||
ADAM23_chr2_206438532_206626127 | 206594737 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0027 | a0001c0005t0027g0188 | 1 | 356 | 0.0028 | 0 | c.207 others(4): Show |
p.Ser others(6): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 23/26 | 2414/6334 | 2079/2499 | 693/832 | chr2 | TogoVar | |||
ADAM28_chr8_24289069_24364014 | 24294203 | T | C | splice_region_variant others(1): Show |
LOW | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0024 | 1 | 346 | 0.0029 | 0 | c.46+ others(4): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24331331 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(108): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0025others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0181 others(93): Show |
111 | 346 | 0.3208 | 0 | c.128 others(6): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 12/22 | chr8 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24353765 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(306): Show |
336 | 346 | 0.9711 | 0 | c.224 others(6): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24354371 | A | ATGTC | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0013others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 others(308): Show |
338 | 346 | 0.9769 | 4 | c.230 others(18): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39744897 | C | A | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0289 | 1 | 328 | 0.0030 | 0 | c.217 others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 19/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39774918 | TACTCTAA others(11035): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02080.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0121 | 1 | 328 | 0.0030 | -11042 | c.891 others(18): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 11/21 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39254514 | T | C | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02258.hp2 HG02615.hp2 others(15): Show |
a0003a0004a0007others(2): Show | a0003c0004a0004c0007a0007c0009others(2): Show | a0003c0004t0001a0003c0004t0002a0004c0007t0001others(3): Show | a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 others(15): Show |
18 | 256 | 0.0703 | 0 | c.200 others(4): Show |
p.Met others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 18/25 | 2045/2524 | 2003/2364 | 668/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39270868 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(73): Show |
a0001a0002a0009 | a0001c0002a0002c0005a0009c0014 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0162 others(72): Show |
76 | 256 | 0.2969 | 0 | c.216 others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 19/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39283580 | C | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00621.hp2 HG01192.hp2 others(15): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0005a0005c0006others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0005t0001others(5): Show | a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0208 others(15): Show |
18 | 256 | 0.0703 | 0 | c.231 others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 23/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39284793 | T | A | missense_variant others(1): Show |
MODERATE | HG02615.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0138 | 1 | 256 | 0.0039 | 0 | c.235 others(4): Show |
p.Ser others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 25/25 | 2400/2524 | 2358/2364 | 786/787 | chr8 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672331 | TGCGCA | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01884.hp2 HG02258.hp2 others(15): Show |
a0001a0011a0018 | a0001c0006a0001c0023a0011c0016others(1): Show | a0001c0006t0005a0001c0006t0006a0001c0023t0005others(2): Show | a0001c0006t0005g0273 a0001c0006t0005g0372 a0001c0006t0006g0041 others(14): Show |
18 | 460 | 0.0391 | -5 | c.140 others(18): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/21 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3672334 | G | A | splice_region_variant others(1): Show |
LOW | NA20129.hp1 | a0008 | a0008c0019 | a0008c0019t0025 | a0008c0019t0025g0238 | 1 | 460 | 0.0022 | 0 | c.140 others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/21 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3673574 | C | A | splice_region_variant others(1): Show |
LOW | HG02027.hp2 | a0003 | a0003c0039 | a0003c0039t0007 | a0003c0039t0007g0303 | 1 | 460 | 0.0022 | 0 | c.990 others(3): Show |
p.Thr others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 10/22 | 996/3436 | 990/2442 | 330/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3673740 | C | G | splice_region_variant others(1): Show |
LOW | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0169 | 1 | 460 | 0.0022 | 0 | c.905 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 9/21 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3674857 | G | A | splice_region_variant others(1): Show |
LOW | NA18982.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 460 | 0.0043 | 0 | c.334 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 4/21 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3675110 | G | A | splice_region_variant others(1): Show |
LOW | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 460 | 0.0022 | 0 | c.255 others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/21 | chr20 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24442470 | T | C | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG02970.hp1 HG03139.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0012 a0003c0004t0001g0075 |
3 | 358 | 0.0084 | 0 | c.53- others(4): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 1/21 | chr8 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24466989 | GTGAGTAC others(23): Show |
G | splice_region_variant others(1): Show |
LOW | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 358 | 0.0028 | -30 | c.579 others(42): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24487317 | G | A | missense_variant others(1): Show |
MODERATE | NA18952.hp2 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0123 | 1 | 358 | 0.0028 | 0 | c.109 others(4): Show |
p.Ser others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/22 | 1174/3367 | 1091/2265 | 364/754 | chr8 | TogoVar | |||
ADAM7_chr8_24436026_24514565 | 24491904 | T | C | missense_variant others(1): Show |
MODERATE | HG01081.hp1 HG01192.hp1 HG01358.hp1 others(8): Show |
a0004a0015 | a0004c0005a0015c0016 | a0004c0005t0001a0015c0016t0001 | a0004c0005t0001g0002 a0004c0005t0001g0019 a0004c0005t0001g0088 others(6): Show |
11 | 358 | 0.0307 | 0 | c.135 others(4): Show |
p.Ile others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 14/22 | 1441/3367 | 1358/2265 | 453/754 | chr8 | TogoVar | |||
ADAM7_chr8_24436026_24514565 | 24499233 | T | C | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG00738.hp2 HG02145.hp1 others(18): Show |
a0003a0005a0006others(2): Show | a0003c0004a0005c0006a0006c0008others(2): Show | a0003c0004t0005a0005c0006t0001a0006c0008t0005others(2): Show | a0003c0004t0005g0023 a0003c0004t0005g0035 a0003c0004t0005g0181 others(14): Show |
21 | 358 | 0.0587 | 0 | c.184 others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 16/21 | chr8 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133270728 | C | CAGA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(320): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0002a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(130): Show |
323 | 384 | 0.8411 | 3 | c.163 others(16): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133271798 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001a0004 | a0001c0007a0004c0005a0004c0026 | a0001c0007t0002a0004c0005t0002a0004c0026t0002 | a0001c0007t0002g0033 a0001c0007t0002g0034 a0001c0007t0002g0124 others(9): Show |
18 | 384 | 0.0469 | 0 | c.110 others(6): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133274037 | A | G | splice_region_variant others(1): Show |
LOW | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 384 | 0.0026 | 0 | c.228 others(5): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39054572 | G | A | missense_variant others(1): Show |
MODERATE | NA18963.hp2 NA19064.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0301 a0003c0004t0001g0302 |
2 | 330 | 0.0061 | 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 | |||
ADAMDEC1_chr8_24379285_24411013 | 24394146 | T | C | missense_variant others(1): Show |
MODERATE | HG01167.hp1 HG01169.hp2 HG02258.hp2 others(7): Show |
a0003a0004a0009 | a0003c0004a0004c0005a0004c0008others(1): Show | a0003c0004t0005a0004c0005t0002a0004c0008t0011others(1): Show | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 others(2): Show |
10 | 402 | 0.0249 | 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 | a0008 | a0008c0012 | a0008c0012t0003 | a0008c0012t0003g0001 | 1 | 402 | 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 | 24398876 | A | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0005a0004c0005t0002 | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 |
8 | 402 | 0.0199 | 0 | c.765 others(3): Show |
p.Ile others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 9/14 | 985/2348 | 765/1413 | 255/470 | chr8 | TogoVar | |||
ADAMDEC1_chr8_24379285_24411013 | 24404005 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0005a0004c0005t0002 | a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 |
8 | 402 | 0.0199 | 0 | c.132 others(4): Show |
p.Glu others(6): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 13/14 | 1543/2348 | 1323/1413 | 441/470 | chr8 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8585059 | G | A | splice_region_variant others(1): Show |
LOW | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 327 | 0.0031 | 0 | c.304 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 24/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8585059 | G | GAGGGGGC | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(52): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0056 a0001c0002t0001g0005 a0001c0002t0001g0007 others(50): Show |
55 | 381 | 0.1444 | 7 | c.304 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 24/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8585668 | A | C | splice_region_variant others(1): Show |
LOW | HG03491.hp2 | a0001 | a0001c0019 | a0001c0019t0016 | a0001c0019t0016g0037 | 1 | 382 | 0.0026 | 0 | c.266 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 22/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8586554 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01070.hp2 HG01071.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0009a0002c0005t0004 | a0001c0002t0009g0129 a0002c0005t0004g0027 a0002c0005t0004g0028 |
3 | 382 | 0.0079 | 0 | c.240 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 20/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8592110 | G | C | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02451.hp1 HG02572.hp1 others(6): Show |
a0001a0009 | a0001c0001a0001c0018a0009c0016 | a0001c0001t0002a0001c0018t0002a0009c0016t0002 | a0001c0001t0002g0017 a0001c0001t0002g0176 a0001c0001t0002g0184 others(6): Show |
9 | 382 | 0.0236 | 0 | c.158 others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 13/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8603721 | G | A | splice_region_variant others(1): Show |
LOW | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 382 | 0.0026 | 0 | c.592 others(5): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 5/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8603882 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0035 a0001c0013t0001g0036 |
2 | 382 | 0.0052 | 0 | c.438 others(3): Show |
p.His others(6): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 5/26 | 724/4251 | 438/3312 | 146/1103 | chr19 | TogoVar | |||
ADAMTS10_chr19_8575240_8615715 | 8605006 | G | A | splice_region_variant others(1): Show |
LOW | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0177 | 1 | 382 | 0.0026 | 0 | c.435 others(5): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8608125 | T | TG | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(313): Show |
329 | 382 | 0.8613 | 1 | c.-10 others(14): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 2/25 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33649702 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(108): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0024 others(108): Show |
111 | 222 | 0.5000 | 0 | c.119 others(6): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133426349 | T | G | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01071.hp1 HG03491.hp1 others(1): Show |
a0015a0019 | a0015c0024a0019c0025 | a0015c0024t0001a0019c0025t0001 | a0015c0024t0001g0024 a0019c0025t0001g0126 a0019c0025t0001g0127 |
4 | 362 | 0.0110 | 0 | c.686 others(5): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 6/28 | chr9 | TogoVar |