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 | 120027234 | A | AAATAACA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0005 | 1 | 33 | 0.0303 | 15 | c.110 others(36): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120027234 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01169.hp1 HG01261.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0069 others(19): Show |
22 | 54 | 0.4074 | 15 | c.110 others(36): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DERA_chr12_15906332_16042381 | 15936850 | G | GTTGTCTT others(8): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0227 |
3 | 157 | 0.0191 | 15 | c.32- others(32): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DERA_chr12_15906332_16042381 | 15936886 | T | TTGTCTTG others(8): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02602.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0123 a0001c0001t0001g0218 |
3 | 224 | 0.0134 | 15 | c.32- others(32): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DERA_chr12_15906332_16042381 | 15936886 | T | TTGTCTTG others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0211 |
2 | 223 | 0.0090 | 15 | c.32- others(32): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DERL3_chr22_23829503_23844006 | 23830649 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 35 | 0.0571 | 15 | c.*62 others(26): Show |
DERL3 | ENSG00000099958.15 | transcript | ENST00000318109.12 | protein_coding | 3853 | chr22 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88522512 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01168.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(18): Show |
23 | 109 | 0.2110 | 15 | c.127 others(34): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88533852 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0004t0001g0235 others(2): Show |
5 | 97 | 0.0515 | 15 | c.-10 others(32): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88536770 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 272 | 0.0037 | 15 | c.-10 others(32): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
DFFB_chr1_3852476_3890429 | 3868599 | A | ACCACACC others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0018 | a0001c0001t0004g0257 a0001c0001t0004g0265 a0001c0001t0007g0258 others(1): Show |
4 | 402 | 0.0100 | 15 | c.510 others(30): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DGAT1_chr8_144309584_144331852 | 144313660 | G | GCGCCTCC others(8): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0002 |
2 | 300 | 0.0067 | 15 | c.*28 others(26): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 923 | chr8 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20077152 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 280 | 0.0036 | 15 | c.-35 others(26): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 3088 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20111706 | G | GCCCCCCC others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0070 | 1 | 70 | 0.0143 | 15 | c.*16 others(26): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 14/14 | 1615 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14612154 | C | CATTTTAT others(8): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02965.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0023a0001c0002t0002a0001c0006t0008others(2): Show | a0001c0001t0023g0123 a0001c0002t0002g0074 a0001c0006t0008g0080 others(2): Show |
5 | 89 | 0.0562 | 15 | c.135 others(34): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 16/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14689199 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 33 | 0.0303 | 15 | c.712 others(32): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 9/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14811813 | C | CAAATTGT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(48): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(84): Show |
87 | 146 | 0.5959 | 15 | c.70+ others(32): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14852487 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18988.hp2 |
a0001 | a0001c0004a0001c0017 | a0001c0004t0004a0001c0017t0024 | a0001c0004t0004g0114 a0001c0017t0024g0146 |
2 | 14 | 0.1429 | 15 | c.-18 others(36): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186249832 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0197 | 1 | 197 | 0.0051 | 15 | c.176 others(34): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 19/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186250557 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02257.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0010a0001c0003t0005a0001c0010t0012others(1): Show | a0001c0002t0010g0162 a0001c0003t0005g0109 a0001c0010t0012g0054 others(1): Show |
4 | 31 | 0.1290 | 15 | c.176 others(34): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 19/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186310265 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG02145.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0010a0001c0020others(1): Show | a0001c0002t0003a0001c0002t0010a0001c0010t0030others(2): Show | a0001c0002t0003g0201 a0001c0002t0010g0162 a0001c0010t0030g0150 others(2): Show |
5 | 54 | 0.0926 | 15 | c.68- others(30): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42135507 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(15): Show |
a0001a0002a0007 | a0001c0003a0002c0022a0007c0023 | a0001c0003t0010a0001c0003t0025a0001c0003t0043others(8): Show | a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0197 others(15): Show |
18 | 236 | 0.0763 | 15 | c.384 others(32): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42207024 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0237 | 1 | 313 | 0.0032 | 15 | c.260 others(32): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137605313 | T | TATAAAAT others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0003t0006a0001c0005t0031others(5): Show | a0001c0001t0002g0032 a0001c0003t0006g0057 a0001c0005t0031g0043 others(6): Show |
9 | 38 | 0.2368 | 15 | c.116 others(34): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 10/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137691809 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18522.hp2 |
a0001 | a0001c0009a0001c0019 | a0001c0009t0041a0001c0019t0005 | a0001c0009t0041g0075 a0001c0019t0005g0072 |
2 | 75 | 0.0267 | 15 | c.402 others(32): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137706477 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0047 | a0001c0003t0047g0094 | 1 | 56 | 0.0179 | 15 | c.402 others(34): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137767471 | G | GGAAGAGA others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0047others(10): Show | a0001c0001t0002g0032 a0001c0001t0004g0023 a0001c0003t0047g0094 others(11): Show |
14 | 36 | 0.3889 | 15 | c.402 others(34): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137846134 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0043 | a0001c0007t0043g0090 | 1 | 48 | 0.0208 | 15 | c.401 others(30): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | |||||||
DGKK_chrX_50360409_50475825 | 50447328 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01099.hp1 others(32): Show |
a0001 | a0001c0001a0001c0011a0001c0017 | a0001c0001t0001a0001c0001t0007a0001c0011t0010others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(28): Show |
35 | 235 | 0.1489 | 15 | c.645 others(34): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91182898 | G | GTTATTTT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0170 | 1 | 191 | 0.0052 | 15 | c.934 others(32): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91202058 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01261.hp2 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0156 others(16): Show |
19 | 75 | 0.2533 | 15 | c.144 others(34): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91205754 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02723.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0152 a0001c0001t0004g0171 a0001c0001t0004g0172 others(2): Show |
5 | 22 | 0.2273 | 15 | c.156 others(32): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGUOK_chr2_73921880_73963946 | 73923641 | C | CAAGAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0034 others(9): Show |
14 | 92 | 0.1522 | 15 | c.-32 others(26): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3238 | chr2 | TogoVar | |||||||
DGUOK_chr2_73921880_73963946 | 73926861 | G | GGGCGGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 350 | 0.0029 | 15 | c.-50 others(22): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 18 | chr2 | TogoVar | |||||||
DGUOK_chr2_73921880_73963946 | 73963054 | T | TTGTGGCC others(8): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 350 | 0.0029 | 15 | c.*43 others(26): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 4109 | chr2 | TogoVar | |||||||
DHODH_chr16_72003744_72032659 | 72017770 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0055 | 1 | 175 | 0.0057 | 15 | c.517 others(30): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DHRS4L2_chr14_23983929_24011403 | 24001957 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 4 | 0.2500 | 15 | c.665 others(30): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21164030 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00738.hp1 others(39): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0237 a0001c0001t0001g0243 others(39): Show |
42 | 149 | 0.2819 | 15 | c.21- others(30): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7_chr14_60139119_60170398 | 60169133 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02280.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0106 others(3): Show |
6 | 172 | 0.0349 | 15 | c.-38 others(26): Show |
DHRS7 | ENSG00000100612.14 | transcript | ENST00000557185.6 | protein_coding | 3736 | chr14 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169078840 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 392 | 0.0026 | 15 | c.-59 others(32): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079983 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 210 | 0.0048 | 15 | c.-59 others(32): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2246665 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0040 | 1 | 48 | 0.0208 | 15 | c.597 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2328079 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0032 | 1 | 22 | 0.0455 | 15 | c.287 others(34): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2334170 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02886.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0004a0003c0003t0001others(2): Show | a0001c0001t0001g0029 a0002c0002t0004g0028 a0002c0002t0004g0035 others(3): Show |
6 | 26 | 0.2308 | 15 | c.287 others(34): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2370590 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0007 | 1 | 13 | 0.0769 | 15 | c.286 others(34): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12090432 | C | CCTTCCTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0162 | 1 | 370 | 0.0027 | 15 | c.988 others(32): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 5/16 | chr10 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00735.hp2 others(17): Show |
a0003a0005a0016 | a0003c0003a0005c0007a0016c0024 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(4): Show | a0003c0003t0001g0013 a0003c0003t0001g0017 a0003c0003t0001g0021 others(17): Show |
20 | 134 | 0.1493 | 15 | c.175 others(30): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 22 | 0.0455 | 15 | c.108 others(34): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24574205 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0114 a0001c0001t0001g0115 others(10): Show |
13 | 55 | 0.2364 | 15 | c.507 others(32): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
DHX29_chr5_55251055_55312694 | 55289358 | C | CTGAAGAA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18997.hp2 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0259 | 1 | 338 | 0.0030 | 15 | c.977 others(22): Show |
p.Arg others(27): Show |
DHX29 | ENSG00000067248.11 | transcript | ENST00000251636.10 | protein_coding | 8/27 | 1098/4664 | 977/4110 | 326/1369 | chr5 | TogoVar | |||
DHX30_chr3_47798138_47855193 | 47828910 | T | TTGCTGCT others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0222 |
3 | 264 | 0.0114 | 15 | c.256 others(28): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |