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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DENND6B_chr22_50304030_50332012 | 50316980 | C | CAGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0014 | a0003c0014t0049 | a0003c0014t0049g0146 | 1 | 326 | 0.0031 | 51 | c.453 others(66): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | ||||||
DESI1_chr22_41593028_41626043 | 41594335 | G | GGGTGGGG others(44): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 308 | 0.0033 | 51 | c.*67 others(62): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 3692 | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212094 | A | ATTTACTC others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0086 | 1 | 148 | 0.0068 | 51 | c.212 others(72): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233463392 | A | ACATCTCC others(44): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0131a0001c0003t0007g0132 | 2 | 336 | 0.0060 | 51 | c.318 others(68): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DGKD_chr2_233349494_233477098 | 233463498 | G | GTCCTCAC others(44): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0130 | 1 | 336 | 0.0030 | 51 | c.318 others(68): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DGKD_chr2_233349494_233477098 | 233463507 | G | GCACGCAT others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 336 | 0.0030 | 51 | c.318 others(68): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DGKD_chr2_233349494_233477098 | 233463515 | G | GTCCTCAC others(44): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 336 | 0.0030 | 51 | c.318 others(68): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2314358 | A | AGGGAAGG others(44): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0034 | 1 | 50 | 0.0200 | 51 | c.287 others(70): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DIABLO_chr12_122202668_122231052 | 122226363 | A | AGGGAGGC others(44): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG03579.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0243a0001c0001t0003g0244a0001c0001t0003g0246others(1): Show | 4 | 380 | 0.0105 | 51 | c.-40 others(60): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 312 | chr12 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141622319 | T | TCAAAAGC others(44): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 336 | 0.0030 | 51 | c.-34 others(62): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 3320 | chr5 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0057 | 1 | 208 | 0.0048 | 51 | c.180 others(68): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593784 | C | CCCCCTCC others(44): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 | 1 | 284 | 0.0035 | 51 | c.101 others(70): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593850 | C | CCCCTCTC others(44): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0234 | 1 | 284 | 0.0035 | 51 | c.101 others(70): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50598754 | T | TCTCCCCC others(44): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 284 | 0.0035 | 51 | c.101 others(70): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232333176 | G | GCCTCCTC others(44): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0191 | 1 | 304 | 0.0033 | 51 | c.201 others(68): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0158 | 1 | 400 | 0.0025 | 51 | c.558 others(66): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0171 | 1 | 400 | 0.0025 | 51 | c.558 others(66): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0168 | 1 | 400 | 0.0025 | 51 | c.558 others(66): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0147a0001c0003t0004g0148 | 2 | 400 | 0.0050 | 51 | c.558 others(66): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DISC1_chr1_231621790_232046272 | 231733094 | T | TAGTGGTT others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00673.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0032a0001c0001t0004g0038a0001c0001t0005g0001others(27): Show | 30 | 40 | 0.7500 | 51 | c.111 others(72): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(44): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 NA18973.hp1 |
a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0003 | 2 | 396 | 0.0051 | 51 | c.*36 others(62): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
DLGAP2_chr8_732628_1713476 | 795939 | C | CGTCCAGT others(44): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01891.hp1 HG01891.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0001 | a0001c0003t0001a0001c0003t0014a0001c0003t0024others(5): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0003t0014g0020others(7): Show | 10 | 40 | 0.2500 | 51 | c.18+ others(68): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 795956 | C | CGTCCAGT others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01361.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(11): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(13): Show | 16 | 40 | 0.4000 | 51 | c.18+ others(68): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 796006 | G | GTGTCCAG others(44): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0029 | 1 | 40 | 0.0250 | 51 | c.18+ others(68): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 993495 | G | GGACCCCC others(44): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 51 | c.73+ others(68): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1275831 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02698.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0006others(2): Show | a0001c0002t0001g0015a0001c0002t0022g0034a0001c0003t0006g0033others(2): Show | 5 | 40 | 0.1250 | 51 | c.106 others(70): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107204725 | T | TTTAAATA others(44): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 296 | 0.0034 | 51 | c.-19 others(62): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1885 | chrX | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789794 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 |
a0072a0145 | a0072c0046a0145c0076 | a0072c0046t0025a0145c0076t0004 | a0072c0046t0025g0120a0145c0076t0004g0084 | 2 | 298 | 0.0067 | 51 | c.100 others(70): 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(44): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0011 | a0011c0006 | a0011c0006t0002 | a0011c0006t0002g0298 | 1 | 298 | 0.0034 | 51 | c.100 others(70): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(44): Show |
intron_variant | MODIFIER | HG01433.hp1 NA20752.hp2 |
a0001a0060 | a0001c0001a0060c0036 | a0001c0001t0004a0060c0036t0003 | a0001c0001t0004g0253a0060c0036t0003g0255 | 2 | 298 | 0.0067 | 51 | c.100 others(70): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21900387 | G | GACTGAAT others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(31): Show |
a0004a0012a0032others(29): Show | a0004c0009a0012c0011a0032c0267others(30): Show | a0004c0009t0004a0012c0011t0005a0032c0267t0005others(30): Show | a0004c0009t0004g0275a0012c0011t0005g0014a0012c0011t0005g0018others(31): Show | 34 | 298 | 0.1141 | 51 | c.133 others(70): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 81/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0106 | 1 | 266 | 0.0038 | 51 | c.133 others(70): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541141 | G | GTGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0101 | a0101c0211 | a0101c0211t0001 | a0101c0211t0001g0135 | 1 | 252 | 0.0040 | 51 | c.253 others(70): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 234 | 0.0043 | 51 | c.324 others(68): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25169175 | G | GGTTCCTG others(44): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0296 | 1 | 336 | 0.0030 | 51 | c.22- others(66): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAJC13_chr3_132412502_132544032 | 132471021 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0239 | 1 | 318 | 0.0031 | 51 | c.220 others(70): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(44): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 51 | c.*29 others(62): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(44): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 NA19007.hp1 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 338 | 0.0118 | 51 | c.*29 others(62): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
DNAJC6_chr1_65304543_65420871 | 65368706 | C | CCTCTTCC others(44): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03098.hp2 HG03195.hp2 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0001a0003c0007t0007a0003c0007t0022others(1): Show | a0003c0007t0001g0172a0003c0007t0007g0223a0003c0007t0022g0038others(1): Show | 4 | 326 | 0.0123 | 51 | c.543 others(68): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNASE2B_chr1_84393484_84420018 | 84417592 | G | GTATTTCA others(44): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 426 | 0.0024 | 51 | c.*27 others(62): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 2575 | chr1 | TogoVar | ||||||
DOCK10_chr2_224760090_225047468 | 225018621 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG03041.hp1 |
a0002a0007a0014 | a0002c0008a0007c0011a0014c0019 | a0002c0008t0001a0007c0011t0001a0014c0019t0012 | a0002c0008t0001g0169a0007c0011t0001g0170a0014c0019t0012g0043 | 3 | 172 | 0.0174 | 51 | c.123 others(70): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 1/55 | chr2 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127093239 | C | CTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0120 | 1 | 136 | 0.0074 | 51 | c.244 others(72): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK1_chr10_126900428_127457516 | 127428974 | A | ATGTGGAT others(44): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG00738.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(7): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0006others(9): Show | a0001c0002t0001g0097a0001c0005t0001g0022a0001c0005t0001g0111others(12): Show | 15 | 136 | 0.1103 | 51 | c.491 others(70): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 47/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216257 | A | ATGTATAC others(44): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 |
a0001 | a0001c0004 | a0001c0004t0016a0001c0004t0069 | a0001c0004t0016g0091a0001c0004t0069g0175 | 2 | 210 | 0.0095 | 51 | c.44- others(68): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK5_chr8_25179689_25420711 | 25216353 | A | ATGTATAC others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0012 | a0001c0012t0046 | a0001c0012t0046g0006 | 1 | 210 | 0.0048 | 51 | c.44- others(68): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400044 | C | CTCCACCA others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0145 | a0005c0145t0001 | a0005c0145t0001g0172 | 1 | 256 | 0.0039 | 51 | c.323 others(68): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400097 | C | CCACCACC others(44): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001a0002 | a0001c0067a0002c0122 | a0001c0067t0001a0002c0122t0002 | a0001c0067t0001g0006a0002c0122t0002g0232 | 2 | 256 | 0.0078 | 51 | c.323 others(68): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400303 | T | TCCCCCAC others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0115 | a0002c0115t0001 | a0002c0115t0001g0037 | 1 | 256 | 0.0039 | 51 | c.323 others(70): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400310 | T | TCACCACC others(44): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0065 | 1 | 256 | 0.0039 | 51 | c.323 others(70): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400620 | C | CCACCACC others(44): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 NA19060.hp2 |
a0001a0002 | a0001c0003a0001c0061a0002c0005 | a0001c0003t0001a0001c0061t0001a0002c0005t0001 | a0001c0003t0001g0107a0001c0061t0001g0080a0002c0005t0001g0192 | 3 | 256 | 0.0117 | 51 | c.323 others(70): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |