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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEPTOR_chr8_119868722_120055918 | 119908988 | ACAGCCAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0004others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(12): Show | a0001c0003t0001g0098 a0001c0003t0001g0117 a0001c0003t0001g0120 others(69): Show |
72 | 196 | 0.3673 | -9 | c.123 others(28): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 119931958 | GATTATTA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01169.hp1 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(15): Show | a0001c0002t0001g0187 a0001c0002t0006g0183 a0001c0002t0006g0184 others(41): Show |
44 | 123 | 0.3577 | -9 | c.425 others(26): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120001402 | CATCTGTG others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(26): Show |
a0002a0004 | a0002c0001a0002c0005a0004c0006others(1): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0010others(4): Show | a0002c0001t0001g0131 a0002c0001t0003g0001 a0002c0001t0003g0002 others(26): Show |
29 | 196 | 0.1480 | -9 | c.605 others(24): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DERL2_chr17_5466254_5491178 | 5479496 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00621.hp1 others(34): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0031others(1): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0046 others(13): Show |
37 | 134 | 0.2761 | -9 | c.614 others(24): Show |
DERL2 | ENSG00000072849.11 | transcript | ENST00000158771.9 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
DERL3_chr22_23829503_23844006 | 23830649 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01346.hp1 HG01891.hp1 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0010others(1): Show | a0001c0001t0003a0001c0001t0022a0002c0002t0006others(8): Show | a0001c0001t0003g0004 a0001c0001t0022g0051 a0002c0002t0006g0008 others(10): Show |
27 | 60 | 0.4500 | -9 | c.*62 others(20): Show |
DERL3 | ENSG00000099958.15 | transcript | ENST00000318109.12 | protein_coding | 3853 | chr22 | TogoVar | |||||||
DESI2_chr1_244648126_244714033 | 244701207 | TCCCCTCC others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG02155.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0072 others(11): Show |
14 | 323 | 0.0433 | -9 | c.352 others(26): Show |
DESI2 | ENSG00000121644.19 | transcript | ENST00000302550.16 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEUP1_chr11_93325742_93443470 | 93388450 | ATTATACT others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0046 a0001c0001t0001g0162 a0001c0001t0004g0022 others(3): Show |
6 | 366 | 0.0164 | -9 | c.936 others(24): Show |
DEUP1 | ENSG00000165325.15 | transcript | ENST00000298050.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DGCR2_chr22_19031286_19127412 | 19123906 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(51): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(48): Show |
54 | 342 | 0.1579 | -9 | c.-17 others(20): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 1495 | chr22 | TogoVar | |||||||
DGCR6_chr22_18901320_18917088 | 18906488 | CGCGGGCG others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01069.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0040 |
30 | 412 | 0.0728 | -9 | c.110 others(22): Show |
DGCR6 | ENSG00000183628.14 | transcript | ENST00000331444.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20077152 | GTTTGTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0001g0010 a0001c0001t0005g0011 a0001c0001t0005g0025 others(9): Show |
17 | 296 | 0.0574 | -9 | c.-35 others(20): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 3088 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14170148 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG03139.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0004t0001g0128 |
3 | 137 | 0.0219 | -9 | c.230 others(28): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 25/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14172222 | TCACTCAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0135 a0001c0001t0002g0107 a0001c0001t0002g0112 others(4): Show |
7 | 146 | 0.0479 | -9 | c.230 others(28): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 25/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14345172 | TAAAATCT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02630.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0035a0001c0012t0003 | a0001c0003t0035g0127 a0001c0012t0003g0015 |
2 | 146 | 0.0137 | -9 | c.192 others(26): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 22/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14833312 | AATCTTCA others(2): Show |
A | intron_variant | MODIFIER | NA19002.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0107 |
2 | 146 | 0.0137 | -9 | c.70+ others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14845106 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0002others(3): Show | a0001c0001t0003g0051 a0001c0002t0003g0055 a0001c0003t0002g0063 others(3): Show |
6 | 9 | 0.6667 | -9 | c.-18 others(28): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14853867 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0024 a0001c0001t0001g0141 a0001c0001t0002g0110 others(31): Show |
34 | 70 | 0.4857 | -9 | c.-18 others(30): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233360984 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0258 others(82): Show |
85 | 170 | 0.5000 | -9 | c.156 others(26): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186244814 | GGCCTATC others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0009a0002c0001 | a0001c0009t0007a0002c0001t0003a0002c0001t0007others(2): Show | a0001c0009t0007g0016 a0002c0001t0003g0231 a0002c0001t0007g0066 others(2): Show |
5 | 232 | 0.0216 | -9 | c.176 others(28): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 19/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186273367 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0008a0001c0002t0014a0001c0002t0018others(2): Show | a0001c0002t0008g0214 a0001c0002t0014g0213 a0001c0002t0018g0106 others(2): Show |
5 | 120 | 0.0417 | -9 | c.911 others(26): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 10/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186312122 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0008a0001c0002t0010others(3): Show | a0001c0002t0003g0210 a0001c0002t0008g0214 a0001c0002t0010g0212 others(3): Show |
6 | 48 | 0.1250 | -9 | c.68- others(24): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186353696 | ATATCTAT others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03516.hp1 others(1): Show |
a0001a0004 | a0001c0003a0001c0010a0004c0008others(1): Show | a0001c0003t0003a0001c0010t0030a0004c0008t0009others(1): Show | a0001c0003t0003g0169 a0001c0010t0030g0150 a0004c0008t0009g0184 others(1): Show |
4 | 232 | 0.0172 | -9 | c.-24 others(28): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42049052 | CGGGAAGG others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01258.hp2 others(43): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0003g0066 others(43): Show |
46 | 68 | 0.6765 | -9 | c.192 others(24): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42228634 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0004a0001c0001t0017a0001c0002t0001others(3): Show | a0001c0001t0004g0051 a0001c0001t0004g0094 a0001c0001t0017g0018 others(9): Show |
12 | 314 | 0.0382 | -9 | c.357 others(26): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137672766 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG03654.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0003a0001c0010a0001c0015others(2): Show | a0001c0003t0030a0001c0010t0009a0001c0015t0024others(2): Show | a0001c0003t0030g0031 a0001c0010t0009g0047 a0001c0015t0024g0062 others(2): Show |
5 | 22 | 0.2273 | -9 | c.606 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137691798 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0007a0001c0002t0034a0001c0003t0006others(8): Show | a0001c0001t0007g0008 a0001c0002t0034g0009 a0001c0003t0006g0033 others(8): Show |
11 | 51 | 0.2157 | -9 | c.402 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKK_chrX_50360409_50475825 | 50427577 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02109.hp2 HG02451.hp1 others(17): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0003c0006others(2): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0002t0002g0007 a0001c0003t0002g0019 a0001c0003t0002g0022 others(16): Show |
20 | 141 | 0.1418 | -9 | c.646 others(26): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DGKK_chrX_50360409_50475825 | 50447334 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG02647.hp1 others(8): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0002a0001c0003t0002a0001c0009t0001others(2): Show | a0001c0002t0002g0162 a0001c0002t0002g0204 a0001c0003t0002g0155 others(8): Show |
11 | 245 | 0.0449 | -9 | c.645 others(28): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91115870 | TCGGCTGG others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006a0002c0002t0009others(1): Show | a0001c0001t0006g0044 a0002c0002t0006g0042 a0002c0002t0009g0043 others(2): Show |
5 | 214 | 0.0234 | -9 | c.-82 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91121609 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00735.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 others(40): Show |
43 | 87 | 0.4943 | -9 | c.-82 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91189978 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02451.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0026 others(23): Show |
26 | 87 | 0.2989 | -9 | c.119 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHCR24_chr1_54844627_54892195 | 54879322 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0167 a0001c0001t0003g0170 others(2): Show |
6 | 57 | 0.1053 | -9 | c.388 others(26): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
DHDDS_chr1_26427321_26476306 | 26472665 | TGCCGCCA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 others(8): Show |
11 | 314 | 0.0350 | -9 | c.*35 others(20): Show |
DHDDS | ENSG00000117682.18 | transcript | ENST00000236342.12 | protein_coding | 1360 | chr1 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80654889 | TGCAGCGG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02717.hp1 HG02738.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0039 a0001c0001t0003g0098 a0001c0001t0003g0099 others(3): Show |
8 | 373 | 0.0214 | -9 | c.-40 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 401 | chr5 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654908 | GCAGCGCC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0012g0061 others(1): Show |
4 | 361 | 0.0111 | -9 | c.-42 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 420 | chr5 | TogoVar | ||||||
DHRS11_chr17_36586879_36605804 | 36591164 | TAAAATTA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 384 | 0.0078 | -9 | c.-84 others(18): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 714 | chr17 | TogoVar | |||||||
DHRS11_chr17_36586879_36605804 | 36593773 | CAGCTGGC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 others(3): Show |
16 | 384 | 0.0417 | -9 | c.148 others(26): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51767776 | TGGGGCGG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(52): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0065 others(39): Show |
55 | 347 | 0.1585 | -9 | c.*40 others(18): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 216 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51802209 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG03927.hp1 HG03927.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0028 others(2): Show |
6 | 418 | 0.0144 | -9 | c.-9+ others(24): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
DHRS1_chr14_24285598_24304780 | 24294589 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0019 a0001c0001t0003g0002 a0001c0001t0003g0009 others(13): Show |
87 | 224 | 0.3884 | -9 | c.375 others(26): Show |
DHRS1 | ENSG00000157379.14 | transcript | ENST00000288111.12 | protein_coding | 4/8 | chr14 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23964220 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01168.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0001g0140 others(9): Show |
14 | 46 | 0.3043 | -9 | c.409 others(26): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRS7C_chr17_9766438_9796592 | 9786328 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0286 a0001c0001t0001g0287 |
3 | 221 | 0.0136 | -9 | c.155 others(26): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169078815 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(94): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0001a0001c0002t0002a0006c0007t0002 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(53): Show |
97 | 248 | 0.3911 | -9 | c.-59 others(26): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2282788 | GAGAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0001a0008c0013t0007 | a0003c0003t0001g0031 a0008c0013t0007g0036 |
2 | 48 | 0.0417 | -9 | c.388 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2307783 | TAAAAATA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0003 | a0003c0003a0003c0012 | a0003c0003t0005a0003c0012t0005 | a0003c0003t0005g0006 a0003c0012t0005g0004 |
2 | 48 | 0.0417 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2330086 | GGGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp2 HG02004.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0002c0002t0002g0026 others(6): Show |
9 | 46 | 0.1957 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2331436 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02630.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0012g0023 a0002c0002t0003g0012 others(4): Show |
7 | 22 | 0.3182 | -9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2382618 | CCACCATC others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02630.hp2 HG02717.hp1 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0010a0003c0003others(3): Show | a0001c0001t0001a0001c0010t0010a0003c0003t0005others(4): Show | a0001c0001t0001g0021 a0001c0010t0010g0011 a0003c0003t0005g0006 others(4): Show |
7 | 48 | 0.1458 | -9 | c.286 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12067148 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0147 a0001c0001t0001g0202 a0001c0001t0001g0205 others(44): Show |
47 | 321 | 0.1464 | -9 | c.-18 others(20): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1805 | chr10 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24528995 | TAAAAATT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0001a0001c0004t0001a0002c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(69): Show |
93 | 372 | 0.2500 | -9 | c.227 others(26): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
DHX8_chr17_43478975_43530670 | 43488288 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0013 others(86): Show |
107 | 352 | 0.3040 | -9 | c.149 others(26): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |