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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM22_chr7_87929251_88207889 | 88162097 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02970.hp2 NA18952.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0018a0001c0001t0003g0153a0002c0002t0001g0177 | 3 | 230 | 0.0130 | 24 | c.190 others(41): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477889 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 358 | 0.0028 | 24 | c.433 others(41): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477891 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 358 | 0.0028 | 24 | c.433 others(41): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477893 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 358 | 0.0028 | 24 | c.433 others(41): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477895 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0312a0001c0001t0002g0123 | 2 | 358 | 0.0056 | 24 | c.433 others(41): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005 | a0001c0002t0002g0303a0001c0002t0002g0320a0001c0002t0004g0286others(1): Show | 4 | 348 | 0.0115 | 24 | c.151 others(41): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18988.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313a0001c0002t0001g0321 | 2 | 348 | 0.0058 | 24 | c.151 others(41): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24325871 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0275a0003c0006t0002g0276 | 2 | 348 | 0.0058 | 24 | c.891 others(39): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24351759 | A | ATCATTTA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0013others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(289): Show | 310 | 348 | 0.8908 | 24 | c.217 others(41): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39154033 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 257 | 0.0039 | 24 | c.525 others(41): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM7_chr8_24436026_24514565 | 24477569 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 360 | 0.0028 | 24 | c.705 others(41): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045159 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 332 | 0.0030 | 24 | c.130 others(43): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045254 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0198 | 1 | 332 | 0.0030 | 24 | c.130 others(43): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045473 | C | CACACACC others(17): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02602.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0225 | 3 | 332 | 0.0090 | 24 | c.130 others(43): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19005.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051a0001c0002t0001g0237 | 2 | 384 | 0.0052 | 24 | c.320 others(41): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33632396 | A | AAAACAAA others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03486.hp1 NA18906.hp2 others(1): Show |
a0001a0009 | a0001c0001a0001c0018a0001c0025others(1): Show | a0001c0001t0003a0001c0018t0008a0001c0025t0012others(1): Show | a0001c0001t0003g0198a0001c0018t0008g0207a0001c0025t0012g0217others(1): Show | 4 | 224 | 0.0179 | 24 | c.188 others(43): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70687246 | C | CAGTAGGG others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19000.hp1 |
a0007a0033 | a0007c0031a0033c0095 | a0007c0031t0001a0033c0095t0020 | a0007c0031t0001g0210a0033c0095t0020g0060 | 2 | 354 | 0.0057 | 24 | c.522 others(43): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | C | CGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG02165.hp1 others(1): Show |
a0011 | a0011c0022 | a0011c0022t0005 | a0011c0022t0005g0014a0011c0022t0005g0015a0011c0022t0005g0016others(1): Show | 4 | 354 | 0.0113 | 24 | c.523 others(43): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GTGGGGCG others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02293.hp2 HG03704.hp1 others(1): Show |
a0001a0005a0007others(1): Show | a0001c0025a0005c0009a0007c0031others(1): Show | a0001c0025t0028a0005c0009t0009a0007c0031t0017others(1): Show | a0001c0025t0028g0091a0005c0009t0009g0083a0007c0031t0017g0081others(1): Show | 4 | 354 | 0.0113 | 24 | c.523 others(43): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
ADAMTS15_chr11_130443645_130481645 | 130470156 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18962.hp2 NA18971.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0033 | a0001c0002t0001g0238a0001c0002t0003g0352a0001c0002t0033g0219 | 3 | 398 | 0.0075 | 24 | c.172 others(41): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100140484 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0035 | a0005c0035t0010 | a0005c0035t0010g0021 | 1 | 228 | 0.0044 | 24 | c.147 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100140488 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01358.hp2 others(7): Show |
a0002a0003a0004others(2): Show | a0002c0001a0002c0004a0002c0011others(6): Show | a0002c0001t0002a0002c0001t0004a0002c0004t0019others(7): Show | a0002c0001t0002g0059a0002c0001t0004g0121a0002c0004t0019g0048others(7): Show | 10 | 228 | 0.0439 | 24 | c.147 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162755 | T | TATGCACA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01070.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0010a0001c0017others(7): Show | a0001c0005t0002a0001c0010t0009a0001c0010t0028others(9): Show | a0001c0005t0002g0075a0001c0010t0009g0022a0001c0010t0028g0037others(9): Show | 12 | 228 | 0.0526 | 24 | c.118 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162755 | T | TATGCACA others(17): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0125 | 1 | 228 | 0.0044 | 24 | c.118 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100255617 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG02027.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0042others(2): Show | a0001c0002t0005a0002c0001t0007a0003c0042t0001others(3): Show | a0001c0002t0005g0148a0002c0001t0007g0094a0003c0042t0001g0102others(5): Show | 8 | 228 | 0.0351 | 24 | c.103 others(43): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77290681 | A | ACACACCA others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0022 | a0022c0030 | a0022c0030t0049 | a0022c0030t0049g0316 | 1 | 326 | 0.0031 | 24 | c.340 others(41): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02300.hp1 HG02809.hp1 others(2): Show |
a0008a0009a0010others(2): Show | a0008c0008a0009c0009a0010c0013others(2): Show | a0008c0008t0003a0009c0009t0001a0010c0013t0006others(2): Show | a0008c0008t0003g0040a0009c0009t0001g0020a0010c0013t0006g0179others(2): Show | 5 | 326 | 0.0153 | 24 | c.253 others(43): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CTTATATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02895.hp1 others(3): Show |
a0002a0005a0013others(1): Show | a0002c0007a0005c0004a0013c0014others(1): Show | a0002c0007t0004a0005c0004t0001a0013c0014t0006others(1): Show | a0002c0007t0004g0218a0005c0004t0001g0027a0005c0004t0001g0274others(3): Show | 6 | 326 | 0.0184 | 24 | c.253 others(43): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77334595 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 |
a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0005a0002c0007t0005g0177 | 2 | 326 | 0.0061 | 24 | c.185 others(43): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129471450 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0009 | 1 | 226 | 0.0044 | 24 | c.747 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129549912 | A | ATCTAGAT others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0017 | a0007c0017t0002 | a0007c0017t0002g0036 | 1 | 226 | 0.0044 | 24 | c.132 others(43): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608112 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068a0002c0002t0001g0086 | 2 | 226 | 0.0089 | 24 | c.147 others(45): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608114 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0128 | 4 | 226 | 0.0177 | 24 | c.147 others(45): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608114 | G | GTATGTAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0111 | 1 | 226 | 0.0044 | 24 | c.147 others(45): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02630.hp1 NA18955.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0020a0002c0002t0001g0080 | 3 | 226 | 0.0133 | 24 | c.147 others(45): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 HG03491.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0117a0001c0001t0001g0119a0003c0005t0001g0145 | 3 | 226 | 0.0133 | 24 | c.147 others(45): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02071.hp2 HG02135.hp2 others(4): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0121others(4): Show | 7 | 226 | 0.0310 | 24 | c.187 others(43): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 226 | 0.0044 | 24 | c.230 others(41): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702941 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 226 | 0.0044 | 24 | c.316 others(43): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 306 | 0.0033 | 24 | c.428 others(43): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0169a0001c0001t0001g0177 | 3 | 306 | 0.0098 | 24 | c.161 others(43): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03942.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0190 | 3 | 306 | 0.0098 | 24 | c.161 others(43): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0176a0001c0001t0001g0177 | 3 | 306 | 0.0098 | 24 | c.867 others(39): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCACAC others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19076.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0001g0238 | 3 | 306 | 0.0098 | 24 | c.867 others(39): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCGCAC others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03688.hp1 NA18970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0159a0001c0001t0001g0230a0001c0001t0001g0239others(1): Show | 4 | 306 | 0.0131 | 24 | c.867 others(39): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 306 | 0.0033 | 24 | c.867 others(39): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179184509 | T | TCAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0074 | a0001c0074t0004 | a0001c0074t0004g0062 | 1 | 276 | 0.0036 | 24 | c.892 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277725 | C | CCGAGACC others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0028 | a0001c0001t0004a0002c0028t0002 | a0001c0001t0004g0111a0002c0028t0002g0110 | 2 | 276 | 0.0073 | 24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278119 | C | CCCCCCAC others(17): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0007 | a0007c0005 | a0007c0005t0003 | a0007c0005t0003g0263 | 1 | 276 | 0.0036 | 24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179278187 | C | CCCCCCCG others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0069 | a0001c0069t0002 | a0001c0069t0002g0046 | 1 | 276 | 0.0036 | 24 | c.535 others(41): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar |