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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM2_chr8_39738735_39843227 | 39765920 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(156): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0007a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(150): Show |
159 | 329 | 0.4833 | -1 | c.150 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 14/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39766438 | CT | C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02896.hp2 others(7): Show |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0001a0013c0016t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(7): Show |
10 | 329 | 0.0304 | -1 | c.150 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 14/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39767012 | GA | G | frameshift_variant | HIGH | NA18987.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0146 | 1 | 329 | 0.0030 | -1 | c.134 others(5): Show |
p.Ser others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 14/21 | 1384/2610 | 1342/2208 | 448/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39781012 | CT | C | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG03486.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0004 | a0001c0001t0001a0003c0003t0001a0007c0004t0001 | a0001c0001t0001g0025 a0001c0001t0001g0137 a0001c0001t0001g0170 others(5): Show |
8 | 329 | 0.0243 | -1 | c.892 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 10/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39785796 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(150): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0007a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(145): Show |
153 | 329 | 0.4651 | -1 | c.891 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 10/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39796081 | TA | T | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0248 a0001c0001t0001g0254 others(6): Show |
9 | 329 | 0.0274 | -1 | c.571 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 7/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39799005 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(260): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(244): Show |
263 | 329 | 0.7994 | -1 | c.571 others(10): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 7/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39800078 | TG | T | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0248 a0001c0001t0001g0254 others(6): Show |
9 | 329 | 0.0274 | -1 | c.570 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 7/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39824274 | CA | C | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01891.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 others(25): Show |
28 | 329 | 0.0851 | -1 | c.267 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 4/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39824345 | TA | T | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
5 | 329 | 0.0152 | -1 | c.267 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 4/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39827047 | GA | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0181 others(3): Show |
6 | 329 | 0.0182 | -1 | c.189 others(9): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 3/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39834445 | TG | T | intron_variant | MODIFIER | HG02109.hp1 HG02148.hp2 HG02622.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(13): Show |
16 | 329 | 0.0486 | -1 | c.133 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39834732 | CA | C | intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 HG03704.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0049 others(7): Show |
10 | 329 | 0.0304 | -1 | c.133 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39836257 | GT | G | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 others(4): Show |
7 | 329 | 0.0213 | -1 | c.132 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39836538 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(18): Show |
a0001 | a0001c0001a0001c0015a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0225 a0001c0001t0001g0226 others(18): Show |
21 | 329 | 0.0638 | -1 | c.132 others(8): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39838718 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00639.hp2 others(81): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0012c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0012c0012t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(78): Show |
84 | 329 | 0.2553 | -1 | c.-53 others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 492 | chr8 | TogoVar | |||||||
ADAM30_chr1_119888533_119901515 | 119889453 | TA | T | downstream_gene_variant | MODIFIER | HG00673.hp2 NA19067.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 388 | 0.0077 | -1 | c.*45 others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 4079 | chr1 | TogoVar | |||||||
ADAM30_chr1_119888533_119901515 | 119892944 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp2 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0003t0003g0000 others(3): Show |
64 | 388 | 0.1650 | -1 | c.*10 others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 588 | chr1 | TogoVar | |||||||
ADAM30_chr1_119888533_119901515 | 119895137 | CT | C | frameshift_variant | HIGH | NA19084.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0000 | 1 | 388 | 0.0026 | -1 | c.119 others(5): Show |
p.Lys others(5): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 1378/2983 | 1199/2373 | 400/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119899881 | CT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01978.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0004a0002c0002t0002 | a0001c0003t0001g0000 a0001c0003t0004g0000 a0002c0002t0002g0000 |
21 | 388 | 0.0541 | -1 | c.-35 others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 3367 | chr1 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39111720 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0148 others(81): Show |
85 | 257 | 0.3307 | -1 | c.58+ others(8): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39113998 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(100): Show |
103 | 257 | 0.4008 | -1 | c.59- others(8): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39116890 | CT | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0148 a0001c0001t0002g0012 a0001c0001t0002g0013 others(3): Show |
6 | 257 | 0.0234 | -1 | c.59- others(8): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39118061 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01169.hp1 HG02976.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0002g0057 a0001c0001t0002g0078 others(4): Show |
7 | 257 | 0.0272 | -1 | c.59- others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39120761 | CA | C | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02258.hp2 others(10): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0012 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0002g0057 a0001c0001t0002g0075 others(10): Show |
13 | 257 | 0.0506 | -1 | c.138 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39124414 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(115): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(115): Show |
118 | 257 | 0.4591 | -1 | c.138 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39129125 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(192): Show |
197 | 257 | 0.7665 | -1 | c.139 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39129955 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
114 | 257 | 0.4436 | -1 | c.139 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39132752 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp1 HG02056.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0206 a0001c0001t0002g0036 a0002c0003t0001g0150 others(6): Show |
9 | 257 | 0.0350 | -1 | c.139 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39134341 | AG | A | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02895.hp2 others(3): Show |
a0002a0005a0007 | a0002c0003a0005c0006a0007c0009 | a0002c0003t0001a0005c0006t0001a0007c0009t0001 | a0002c0003t0001g0150 a0005c0006t0001g0143 a0005c0006t0001g0215 others(3): Show |
6 | 257 | 0.0234 | -1 | c.139 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39137770 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(97): Show |
100 | 257 | 0.3891 | -1 | c.200 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39142110 | GA | G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0251 a0001c0001t0001g0252 others(2): Show |
6 | 257 | 0.0234 | -1 | c.201 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 3/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39145041 | GA | G | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02895.hp2 others(3): Show |
a0002a0005a0007 | a0002c0003a0005c0006a0007c0009 | a0002c0003t0001a0005c0006t0001a0007c0009t0001 | a0002c0003t0001g0150 a0005c0006t0001g0143 a0005c0006t0001g0215 others(3): Show |
6 | 257 | 0.0234 | -1 | c.201 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39148481 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(254): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0002c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(252): Show |
257 | 257 | 1.0000 | -1 | c.276 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39152720 | CA | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02257.hp1 others(16): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(4): Show | a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0240 others(16): Show |
19 | 257 | 0.0739 | -1 | c.525 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CA | C | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01192.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0218 others(9): Show |
12 | 257 | 0.0467 | -1 | c.526 others(8): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39162707 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(76): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0007 a0001c0001t0002g0127 a0001c0001t0002g0128 others(75): Show |
79 | 257 | 0.3074 | -1 | c.594 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39173780 | GT | G | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG03471.hp2 others(2): Show |
a0004a0012 | a0004c0007a0012c0014 | a0004c0007t0001a0012c0014t0001 | a0004c0007t0001g0153 a0004c0007t0001g0154 a0004c0007t0001g0155 others(2): Show |
5 | 257 | 0.0195 | -1 | c.915 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39174467 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(156): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(155): Show |
159 | 257 | 0.6187 | -1 | c.915 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39177061 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(75): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0007 a0001c0001t0002g0127 a0001c0001t0002g0128 others(74): Show |
78 | 257 | 0.3035 | -1 | c.915 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39177761 | GT | G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0234 others(26): Show |
30 | 257 | 0.1167 | -1 | c.915 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39185265 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(236): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(234): Show |
239 | 257 | 0.9300 | -1 | c.916 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39191600 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(78): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0007 a0001c0001t0002g0030 a0001c0001t0002g0127 others(77): Show |
81 | 257 | 0.3152 | -1 | c.105 others(10): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39198739 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(183): Show |
187 | 257 | 0.7276 | -1 | c.105 others(11): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39200453 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(154): Show |
158 | 257 | 0.6148 | -1 | c.105 others(11): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 11/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39202937 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(154): Show |
158 | 257 | 0.6148 | -1 | c.105 others(10): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39212571 | TA | T | intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0007 a0002c0003t0001g0156 a0002c0003t0001g0253 others(1): Show |
4 | 257 | 0.0156 | -1 | c.123 others(10): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 12/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39220964 | TC | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02257.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0209 others(17): Show |
20 | 257 | 0.0778 | -1 | c.123 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 12/24 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39223137 | TA | T | frameshift_variant | HIGH | NA18972.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0202 | 1 | 257 | 0.0039 | -1 | c.142 others(5): Show |
p.Thr others(5): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 14/25 | 1468/2524 | 1426/2364 | 476/787 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
ADAM32_chr8_39102734_39289917 | 39223632 | AT | A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02615.hp2 others(12): Show |
a0003a0005a0011 | a0003c0004a0005c0006a0011c0012 | a0003c0004t0001a0003c0004t0002a0005c0006t0001others(1): Show | a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 others(12): Show |
15 | 257 | 0.0584 | -1 | c.152 others(9): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |