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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBX1_chr1_46484836_46521216 | 46501213 | C | CCTTCCTT others(32): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 | 1 | 430 | 0.0023 | 39 | c.-12 others(56): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 324 | 0.0031 | 39 | c.327 others(56): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31284557 | T | TTTCTTCT others(32): Show |
intron_variant | MODIFIER | HG01943.hp1 NA18943.hp1 NA18982.hp1 others(1): Show |
a0003a0004a0005others(1): Show | a0003c0014a0004c0011a0005c0007others(1): Show | a0003c0014t0001a0004c0011t0002a0005c0007t0001others(1): Show | a0003c0014t0001g0059a0004c0011t0002g0035a0005c0007t0001g0079others(1): Show | 4 | 126 | 0.0318 | 39 | c.922 others(60): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0043 | 1 | 126 | 0.0079 | 39 | c.592 others(58): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0107 | 1 | 126 | 0.0079 | 39 | c.160 others(60): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32782971 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02293.hp2 HG02895.hp1 |
a0002a0003 | a0002c0009a0002c0059a0003c0003 | a0002c0009t0001a0002c0059t0012a0003c0003t0027 | a0002c0009t0001g0065a0002c0059t0012g0055a0003c0003t0027g0091 | 3 | 126 | 0.0238 | 39 | c.649 others(58): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 844446 | T | TATGCATC others(32): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02280.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0142others(17): Show | 20 | 306 | 0.0654 | 39 | c.354 others(56): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123355 | A | AGAGGGAG others(32): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02683.hp1 HG04199.hp2 |
a0012a0018 | a0012c0016a0018c0024 | a0012c0016t0013a0018c0024t0002 | a0012c0016t0013g0220a0012c0016t0013g0221a0018c0024t0002g0021 | 3 | 238 | 0.0126 | 39 | c.110 others(58): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123370 | A | AGAGGGAG others(32): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0231 | 1 | 238 | 0.0042 | 39 | c.110 others(58): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DNAAF11_chr8_132565416_132680545 | 132674123 | G | GGAGAAGG others(32): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02572.hp2 HG02647.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0070a0003c0003t0002g0071a0003c0003t0002g0072others(2): Show | 5 | 276 | 0.0181 | 39 | c.10+ others(54): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674160 | A | AAGGAGGA others(32): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0010 | 1 | 276 | 0.0036 | 39 | c.10+ others(54): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(32): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0048 | 1 | 456 | 0.0022 | 39 | c.125 others(54): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55433930 | A | ATAATATT others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(216): Show | 219 | 338 | 0.6479 | 39 | c.104 others(56): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433995 | A | AATATTAC others(32): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG02257.hp1 others(5): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0008a0006c0006t0001g0052a0006c0006t0001g0053others(5): Show | 8 | 338 | 0.0237 | 39 | c.104 others(56): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433995 | A | AATATTAT others(32): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(167): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(167): Show | 170 | 338 | 0.5030 | 39 | c.104 others(56): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789781 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0051 | a0001c0051t0004 | a0001c0051t0004g0267 | 1 | 298 | 0.0034 | 39 | c.100 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(32): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0075 | a0075c0034 | a0075c0034t0001 | a0075c0034t0001g0004 | 1 | 298 | 0.0034 | 39 | c.100 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(32): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18960.hp2 NA18992.hp2 |
a0018a0035a0188 | a0018c0202a0035c0203a0188c0209 | a0018c0202t0006a0035c0203t0002a0188c0209t0002 | a0018c0202t0006g0163a0035c0203t0002g0162a0188c0209t0002g0164 | 3 | 298 | 0.0101 | 39 | c.100 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 298 | 0.0034 | 39 | c.100 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0080 | 1 | 266 | 0.0038 | 39 | c.133 others(58): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0045 | 1 | 266 | 0.0038 | 39 | c.133 others(58): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0008 | a0008c0036 | a0008c0036t0002 | a0008c0036t0002g0074 | 1 | 316 | 0.0032 | 39 | c.229 others(56): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7838480 | T | TTCCCCCC others(32): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0007 | a0007c0041 | a0007c0041t0001 | a0007c0041t0001g0101 | 1 | 316 | 0.0032 | 39 | c.*49 others(50): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4739 | chr17 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0178 | 1 | 284 | 0.0035 | 39 | c.-35 others(54): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(32): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02738.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0001t0001g0131 | 3 | 336 | 0.0089 | 39 | c.124 others(58): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174371 | G | GATATATA others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(34): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0001a0009c0011t0001 | a0002c0002t0001g0002a0002c0002t0001g0106a0002c0002t0001g0107others(33): Show | 37 | 336 | 0.1101 | 39 | c.22- others(56): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174377 | T | TATATGAT others(32): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01167.hp1 others(40): Show |
a0002a0003a0011others(1): Show | a0002c0002a0003c0003a0011c0008others(1): Show | a0002c0002t0001a0003c0003t0001a0011c0008t0001others(1): Show | a0002c0002t0001g0113a0002c0002t0001g0235a0002c0002t0001g0242others(40): Show | 43 | 336 | 0.1280 | 39 | c.22- others(56): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67839467 | G | GCCTTAAC others(32): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0313 | 1 | 384 | 0.0026 | 39 | c.-14 others(50): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1280 | chr10 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67842665 | G | GTCTTTTC others(32): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(137): Show | 140 | 384 | 0.3646 | 39 | c.-46 others(50): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 4478 | chr10 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95704851 | G | GTTTTTTT others(32): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216 | 1 | 374 | 0.0027 | 39 | c.83- others(54): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237085 | A | AGAGAGAG others(32): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 39 | c.*29 others(50): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2805 | chr11 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(32): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 39 | c.*29 others(50): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66018810 | T | TTGTAAGT others(32): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 254 | 0.0039 | 39 | c.-30 others(50): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 2742 | chr8 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(32): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 279 | 0.0036 | 39 | c.*59 others(50): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(32): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059a0001c0002t0003g0064 | 2 | 279 | 0.0072 | 39 | c.*59 others(50): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(32): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 279 | 0.0036 | 39 | c.*59 others(50): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224877424 | T | TAATATCC others(32): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 172 | 0.0058 | 39 | c.748 others(56): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 7/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 172 | 0.0058 | 39 | c.244 others(56): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 224921112 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0003 | a0001c0001t0006g0023a0002c0002t0003g0086 | 2 | 172 | 0.0116 | 39 | c.244 others(56): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 2/55 | chr2 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127347835 | T | TCCCCTCC others(32): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0048 | 1 | 136 | 0.0074 | 39 | c.322 others(58): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 31/51 | chr10 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169792352 | G | GTGTGTGT others(32): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03453.hp2 NA20300.hp2 |
a0001 | a0001c0003a0001c0009a0001c0054 | a0001c0003t0001a0001c0009t0001a0001c0054t0001 | a0001c0003t0001g0144a0001c0009t0001g0056a0001c0054t0001g0168 | 3 | 184 | 0.0163 | 39 | c.255 others(60): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 51016285 | T | TATATATG others(32): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 212 | 0.0047 | 39 | c.316 others(58): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DOCK6_chr19_11194295_11267524 | 11232624 | A | AGTATATG others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(122): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0011a0001c0012others(37): Show | a0001c0002t0001a0001c0011t0001a0001c0012t0001others(38): Show | a0001c0002t0001g0003a0001c0002t0001g0023a0001c0002t0001g0047others(121): Show | 125 | 314 | 0.3981 | 39 | c.271 others(56): Show |
DOCK6 | ENSG00000130158.14 | transcript | ENST00000294618.12 | protein_coding | 22/47 | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 277472 | A | AAGGGAGG others(32): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03017.hp1 HG03669.hp1 |
a0002a0018 | a0002c0099a0018c0085a0018c0086 | a0002c0099t0004a0018c0085t0006a0018c0086t0006 | a0002c0099t0004g0031a0018c0085t0006g0029a0018c0086t0006g0030 | 3 | 256 | 0.0117 | 39 | c.156 others(56): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400007 | C | CCACCATC others(32): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 256 | 0.0039 | 39 | c.323 others(56): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400070 | T | TCACCATC others(32): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088a0001c0002t0001g0089 | 2 | 256 | 0.0078 | 39 | c.323 others(56): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400244 | C | CCACCTCC others(32): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0206 | 1 | 256 | 0.0039 | 39 | c.323 others(56): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400274 | C | CCACCTCC others(32): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0047 | a0047c0146 | a0047c0146t0001 | a0047c0146t0001g0013 | 1 | 256 | 0.0039 | 39 | c.323 others(58): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400409 | C | CCACCACC others(32): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 256 | 0.0039 | 39 | c.323 others(58): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400409 | C | CCATCACC others(32): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0027 | a0027c0101 | a0027c0101t0007 | a0027c0101t0007g0055 | 1 | 256 | 0.0039 | 39 | c.323 others(58): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |