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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDHD1_chr14_53031755_53158323 | 53155156 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp2 others(16): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0142a0001c0001t0001g0177a0001c0001t0002g0065others(15): Show | 19 | 290 | 0.0655 | 13 | c.-20 others(24): Show |
DDHD1 | ENSG00000100523.17 | transcript | ENST00000673822.2 | protein_coding | 1834 | chr14 | TogoVar | ||||||
DDI2_chr1_15612458_15674044 | 15634539 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01070.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0027a0001c0001t0074others(16): Show | a0001c0001t0002g0239a0001c0001t0027g0090a0001c0001t0027g0091others(21): Show | 24 | 272 | 0.0882 | 13 | c.632 others(28): Show |
DDI2 | ENSG00000197312.13 | transcript | ENST00000480945.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDI2_chr1_15612458_15674044 | 15652446 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0067 | a0001c0001t0001g0147a0001c0001t0001g0191a0001c0001t0067g0243 | 3 | 272 | 0.0110 | 13 | c.118 others(30): Show |
DDI2 | ENSG00000197312.13 | transcript | ENST00000480945.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDI2_chr1_15612458_15674044 | 15671235 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0059 | a0001c0001t0007g0081a0001c0001t0007g0084a0001c0001t0007g0087others(1): Show | 4 | 272 | 0.0147 | 13 | c.*11 others(26): Show |
DDI2 | ENSG00000197312.13 | transcript | ENST00000480945.6 | protein_coding | 2192 | chr1 | TogoVar | ||||||
DDIT4_chr10_72268924_72281036 | 72269410 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0001a0001c0001t0013g0001 | 2 | 348 | 0.0058 | 13 | c.-47 others(24): Show |
DDIT4 | ENSG00000168209.6 | transcript | ENST00000307365.4 | protein_coding | 4513 | chr10 | TogoVar | ||||||
DDR2_chr1_162627464_162792405 | 162656833 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04228.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238a0001c0002t0001g0239 | 2 | 302 | 0.0066 | 13 | c.-28 others(30): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDR2_chr1_162627464_162792405 | 162689841 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02965.hp1 HG03139.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0002g0116a0001c0001t0002g0126a0001c0001t0004g0254others(5): Show | 8 | 302 | 0.0265 | 13 | c.-27 others(32): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 2/17 | chr1 | TogoVar | ||||||
DDX10_chr11_108660069_108945927 | 108812979 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0215a0001c0001t0003g0185a0001c0001t0003g0208others(3): Show | 6 | 320 | 0.0188 | 13 | c.196 others(34): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX10_chr11_108660069_108945927 | 108837607 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03017.hp1 HG04228.hp1 HG06807.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0070a0001c0001t0001g0080others(5): Show | 8 | 320 | 0.0250 | 13 | c.196 others(30): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX10_chr11_108660069_108945927 | 108922243 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0298 | 2 | 320 | 0.0063 | 13 | c.245 others(32): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31093720 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0221a0001c0001t0001g0222others(3): Show | 6 | 418 | 0.0144 | 13 | c.136 others(30): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31099080 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00673.hp1 others(19): Show |
a0001a0012a0015 | a0001c0001a0012c0017a0015c0020 | a0001c0001t0001a0012c0017t0001a0015c0020t0001 | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0196others(17): Show | 22 | 418 | 0.0526 | 13 | c.187 others(32): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31103639 | C | CGGCCCCC others(6): Show |
frameshift_variant | HIGH | HG02738.hp1 | a0000 | a0000c0030 | a0000c0030t0024 | a0000c0030t0024g0002 | 1 | 418 | 0.0024 | 13 | c.260 others(22): Show |
p.Lys others(5): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 26/27 | 2853/3920 | 2617/2721 | 873/906 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
DDX17_chr22_38478438_38511311 | 38497619 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0252a0001c0002t0007g0254a0001c0002t0007g0257 | 3 | 364 | 0.0082 | 13 | c.738 others(28): Show |
DDX17 | ENSG00000100201.23 | transcript | ENST00000403230.3 | protein_coding | 5/12 | chr22 | TogoVar | ||||||
DDX17_chr22_38478438_38511311 | 38500817 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18906.hp1 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0002g0067a0001c0001t0002g0068 | 4 | 364 | 0.0110 | 13 | c.438 others(28): Show |
DDX17 | ENSG00000100201.23 | transcript | ENST00000403230.3 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339382 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 336 | 0.0030 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4078 | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339388 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0217 | 1 | 336 | 0.0030 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4084 | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339390 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 336 | 0.0030 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4086 | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339392 | A | AAAAAAAT others(6): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 336 | 0.0030 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4088 | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339392 | A | AAAAATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01516.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0229a0001c0001t0001g0232 | 3 | 336 | 0.0089 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4088 | chr16 | TogoVar | ||||||
DDX19B_chr16_70294186_70340305 | 70339392 | A | AAATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125a0001c0001t0002g0129 | 2 | 336 | 0.0060 | 13 | c.*58 others(24): Show |
DDX19B | ENSG00000157349.17 | transcript | ENST00000288071.11 | protein_coding | 4088 | chr16 | TogoVar | ||||||
DDX21_chr10_68951170_68990068 | 68952889 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG02083.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0030a0001c0001t0002g0036others(6): Show | 9 | 366 | 0.0246 | 13 | c.-33 others(24): Show |
DDX21 | ENSG00000165732.14 | transcript | ENST00000354185.9 | protein_coding | 3280 | chr10 | TogoVar | ||||||
DDX24_chr14_94043287_94086202 | 94073651 | T | TAATATTT others(6): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 371 | 0.0027 | 13 | c.718 others(30): Show |
DDX24 | ENSG00000089737.19 | transcript | ENST00000621632.5 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
DDX3X_chrX_41329162_41355274 | 41354344 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00639.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0013others(20): Show | 69 | 301 | 0.2292 | 13 | c.*66 others(24): Show |
DDX3X | ENSG00000215301.11 | transcript | ENST00000644876.2 | protein_coding | 4071 | chrX | TogoVar | ||||||
DDX46_chr5_134753779_134836121 | 134755608 | A | AAATATAT others(6): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 342 | 0.0029 | 13 | c.-33 others(24): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3170 | chr5 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55765407 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18957.hp1 NA18982.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005a0002c0003t0001g0006a0002c0003t0001g0193others(1): Show | 6 | 346 | 0.0173 | 13 | c.334 others(30): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 6/21 | chr5 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55765409 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18946.hp2 NA19080.hp2 |
a0002a0003 | a0002c0003a0003c0006 | a0002c0003t0001a0003c0006t0001 | a0002c0003t0001g0167a0002c0003t0001g0168a0003c0006t0001g0194 | 3 | 346 | 0.0087 | 13 | c.334 others(30): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 6/21 | chr5 | TogoVar | ||||||
DDX4_chr5_55733061_55822157 | 55793065 | T | TGTGTGTT others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 346 | 0.0029 | 13 | c.146 others(30): Show |
DDX4 | ENSG00000152670.19 | transcript | ENST00000505374.6 | protein_coding | 17/21 | chr5 | TogoVar | ||||||
DDX52_chr17_37604739_37648446 | 37641588 | T | TACTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0251 | 1 | 411 | 0.0024 | 13 | c.286 others(28): Show |
DDX52 | ENSG00000278053.5 | transcript | ENST00000617633.5 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
DDX54_chr12_113152173_113190478 | 113162203 | C | CAAAAGGG others(6): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0116 | 1 | 306 | 0.0033 | 13 | c.219 others(30): Show |
DDX54 | ENSG00000123064.13 | transcript | ENST00000306014.10 | protein_coding | 17/19 | chr12 | TogoVar | ||||||
DDX56_chr7_44560804_44578908 | 44562854 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0029 | 2 | 406 | 0.0049 | 13 | c.*31 others(24): Show |
DDX56 | ENSG00000136271.11 | transcript | ENST00000258772.10 | protein_coding | 2949 | chr7 | TogoVar | ||||||
DDX60L_chr4_168351735_168485492 | 168484059 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0112 | 1 | 268 | 0.0037 | 13 | c.-38 others(24): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 3568 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168301336 | A | ATTGCAAA others(6): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 270 | 0.0037 | 13 | c.723 others(28): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118764817 | A | ATACACAC others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01978.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0041others(6): Show | a0001c0001t0005g0300a0001c0001t0005g0305a0001c0001t0005g0350others(12): Show | 15 | 370 | 0.0405 | 13 | c.646 others(28): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 6/13 | chr11 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118764817 | A | ATATACAC others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0003g0214a0001c0001t0003g0278a0001c0001t0003g0285others(73): Show | 76 | 370 | 0.2054 | 13 | c.646 others(28): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 6/13 | chr11 | TogoVar | ||||||
DDX6_chr11_118742763_118796164 | 118783810 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp1 others(82): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0014a0001c0001t0001g0088a0001c0001t0001g0089others(81): Show | 85 | 370 | 0.2297 | 13 | c.200 others(30): Show |
DDX6 | ENSG00000110367.14 | transcript | ENST00000534980.7 | protein_coding | 2/13 | chr11 | TogoVar | ||||||
DECR1_chr8_89996477_90058633 | 90056954 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 378 | 0.0027 | 13 | c.*50 others(24): Show |
DECR1 | ENSG00000104325.7 | transcript | ENST00000220764.7 | protein_coding | 3322 | chr8 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397726 | C | CGGGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 367 | 0.0027 | 13 | c.-42 others(24): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | ||||||
DEFA1_chr8_6972649_6985092 | 6974207 | T | TTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005a0001c0001t0004g0031 | 3 | 408 | 0.0074 | 13 | c.*35 others(24): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3441 | chr8 | TogoVar | ||||||
DEFB106A_chr8_7820139_7834053 | 7827188 | G | GATAGTAT others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 160 | 0.0063 | 13 | c.50- others(28): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB106A_chr8_7820139_7834053 | 7829529 | T | TCCCTCCC others(6): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 160 | 0.0063 | 13 | c.*57 others(22): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 477 | chr8 | TogoVar | ||||||
DEFB106A_chr8_7820139_7834053 | 7829529 | T | TCCTCCCC others(6): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 160 | 0.0063 | 13 | c.*57 others(22): Show |
DEFB106A | ENSG00000186579.3 | transcript | ENST00000335186.3 | protein_coding | 477 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7809593 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 170 | 0.0059 | 13 | c.*22 others(24): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 2126 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7815247 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 1 | 170 | 0.0059 | 13 | c.70+ others(26): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB107A_chr8_7806720_7820716 | 7816064 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 13 | c.-43 others(22): Show |
DEFB107A | ENSG00000186572.2 | transcript | ENST00000335021.2 | protein_coding | 349 | chr8 | TogoVar | ||||||
DEFB116_chr20_31298212_31313585 | 31298455 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG01981.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0008others(4): Show | 22 | 416 | 0.0529 | 13 | c.*47 others(24): Show |
DEFB116 | ENSG00000215545.1 | transcript | ENST00000400549.1 | protein_coding | 4756 | chr20 | TogoVar | ||||||
DEFB121_chr20_31399845_31411215 | 31410855 | A | AGAGAGAG others(6): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | 13 | c.-47 others(24): Show |
DEFB121 | ENSG00000204548.4 | transcript | ENST00000376314.3 | protein_coding | 4641 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31460620 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0146a0001c0001t0002g0147 | 3 | 362 | 0.0083 | 13 | c.*48 others(24): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 4850 | chr20 | TogoVar | ||||||
DEFB124_chr20_31460471_31480127 | 31463125 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01891.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0002 | a0001c0001t0002g0012a0001c0001t0002g0027a0001c0001t0002g0097others(7): Show | 11 | 362 | 0.0304 | 13 | c.*23 others(24): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2345 | chr20 | TogoVar | ||||||
DEFB127_chr20_152454_164163 | 159495 | G | GAATGGCA others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(157): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008a0002c0002t0009others(1): Show | a0002c0002t0002g0002a0002c0002t0002g0003a0002c0002t0002g0010others(8): Show | 160 | 450 | 0.3556 | 13 | c.*47 others(22): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 333 | chr20 | TogoVar |