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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0002g0226 a0001c0001t0027g0092 a0001c0001t0027g0094 others(21): Show |
24 | 58 | 0.4138 | 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 | a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0067g0230 |
3 | 146 | 0.0205 | 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 | a0001c0001t0007g0083 a0001c0001t0007g0086 a0001c0001t0007g0089 others(1): Show |
4 | 155 | 0.0258 | 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 | a0001c0001t0002g0001 a0001c0001t0013g0001 |
2 | 52 | 0.0385 | 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 | a0001c0002t0001g0237 a0001c0002t0001g0238 |
2 | 85 | 0.0235 | 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 | a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0004g0253 others(5): Show |
8 | 86 | 0.0930 | 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 | a0001c0001t0001g0215 a0001c0001t0003g0185 a0001c0001t0003g0208 others(3): Show |
6 | 40 | 0.1500 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0070 a0001c0001t0001g0080 others(5): Show |
8 | 44 | 0.1818 | 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 | a0001c0001t0001g0296 a0001c0001t0001g0298 |
2 | 85 | 0.0235 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0178 a0001c0001t0001g0191 others(1): Show |
6 | 197 | 0.0305 | 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 |
a0001a0010a0013 | a0001c0001a0010c0017a0013c0020 | a0001c0001t0001a0010c0017t0001a0013c0020t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(17): Show |
22 | 134 | 0.1642 | 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 | a0017 | a0017c0030 | a0017c0030t0024 | a0017c0030t0024g0001 | 1 | 416 | 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 | a0001c0002t0009 | a0001c0002t0009g0255 a0001c0002t0009g0257 a0001c0002t0009g0260 |
3 | 110 | 0.0273 | 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 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0005g0039 |
4 | 39 | 0.1026 | 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 | 329 | 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 | a0001c0001t0009g0218 | 1 | 313 | 0.0032 | 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 | a0001c0001t0001g0222 | 1 | 290 | 0.0034 | 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 | a0001c0001t0001g0071 | 1 | 74 | 0.0135 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0230 a0001c0001t0001g0233 |
3 | 76 | 0.0395 | 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 | a0001c0001t0002g0126 a0001c0001t0002g0130 |
2 | 75 | 0.0267 | 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 | a0001c0001t0002g0004 a0001c0001t0002g0030 a0001c0001t0002g0036 others(6): Show |
9 | 26 | 0.3462 | 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 | a0001c0001t0001g0098 | 1 | 370 | 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 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(18): Show |
69 | 104 | 0.6635 | 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 | 185 | 0.0054 | 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 | a0002c0003t0001g0003 a0002c0003t0001g0014 a0002c0003t0001g0187 others(1): Show |
6 | 330 | 0.0182 | 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 |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0001 | a0002c0003t0001g0011 a0002c0003t0001g0012 a0004c0006t0001g0188 |
3 | 290 | 0.0103 | 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 | a0001c0001t0001g0265 | 1 | 312 | 0.0032 | 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 | a0002c0002t0004g0250 | 1 | 410 | 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 | 304 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0029 |
2 | 120 | 0.0167 | 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 | 92 | 0.0109 | 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 | a0001c0001t0001g0118 | 1 | 250 | 0.0040 | 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 | a0001c0001t0005g0014 a0001c0001t0005g0294 a0001c0001t0005g0299 others(11): Show |
15 | 270 | 0.0556 | 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 | a0001c0001t0003g0214 a0001c0001t0003g0274 a0001c0001t0003g0279 others(72): Show |
76 | 331 | 0.2296 | 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 | a0001c0001t0001g0021 a0001c0001t0001g0092 a0001c0001t0001g0093 others(79): Show |
85 | 117 | 0.7265 | 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 | a0001c0001t0001g0235 | 1 | 293 | 0.0034 | 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 | a0001c0001t0001g0153 | 1 | 325 | 0.0031 | 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 | a0001c0001t0004g0005 a0001c0001t0004g0030 |
3 | 32 | 0.0938 | 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 | 33 | 0.0303 | 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 | 33 | 0.0303 | 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 | 80 | 0.0125 | 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 | 5 | 0.2000 | 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 | 12 | 0.0833 | 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 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(4): Show |
22 | 56 | 0.3929 | 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 | 367 | 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 | a0001c0001t0002g0040 a0001c0001t0002g0138 a0001c0001t0002g0139 |
3 | 179 | 0.0168 | 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 | a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0089 others(7): Show |
11 | 164 | 0.0671 | 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 | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(8): Show |
160 | 448 | 0.3571 | 13 | c.*47 others(22): Show |
DEFB127 | ENSG00000088782.5 | transcript | ENST00000382388.4 | protein_coding | 333 | chr20 | TogoVar | |||||||
DEFB132_chr20_252724_266096 | 260849 | G | GCAGAACT others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0003 | 1 | 428 | 0.0023 | 13 | c.*15 others(24): Show |
DEFB132 | ENSG00000186458.5 | transcript | ENST00000382376.4 | protein_coding | 2/2 | 1557 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |