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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGUOK_chr2_73921880_73963946 | 73923649 | G | GAAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0185 |
4 | 349 | 0.0115 | 9 | c.-32 others(20): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3230 | chr2 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80654905 | G | GCCGCAGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00609.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0056 others(44): Show |
63 | 359 | 0.1755 | 9 | c.-42 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 417 | chr5 | TogoVar | ||||||
DHRS1_chr14_24285598_24304780 | 24294589 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0046 others(4): Show |
14 | 151 | 0.0927 | 9 | c.375 others(26): Show |
DHRS1 | ENSG00000157379.14 | transcript | ENST00000288111.12 | protein_coding | 4/8 | chr14 | TogoVar | |||||||
DHRS7B_chr17_21121964_21196420 | 21140022 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01081.hp2 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 others(31): Show |
34 | 128 | 0.2656 | 9 | c.20+ others(26): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7C_chr17_9766438_9796592 | 9786328 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02257.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0056 others(3): Show |
7 | 225 | 0.0311 | 9 | c.155 others(26): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228470 | G | GAAGGGAG others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 |
a0002a0005 | a0002c0005a0005c0008 | a0002c0005t0004a0002c0005t0008a0005c0008t0006 | a0002c0005t0004g0030 a0002c0005t0008g0007 a0005c0008t0006g0032 |
3 | 47 | 0.0638 | 9 | c.805 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2328079 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01496.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(7): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 others(15): Show |
18 | 39 | 0.4615 | 9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2436461 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01928.hp1 HG02886.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0002a0005c0006t0004 | a0001c0001t0001g0041 a0002c0002t0002g0005 a0005c0006t0004g0034 |
3 | 15 | 0.2000 | 9 | c.110 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GACACCCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG02040.hp2 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0300 others(2): Show |
5 | 86 | 0.0581 | 9 | c.*66 others(20): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 others(13): Show |
16 | 37 | 0.4324 | 9 | c.108 others(28): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX30_chr3_47798138_47855193 | 47829315 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01346.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0084 others(2): Show |
5 | 172 | 0.0291 | 9 | c.366 others(24): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | chr3 | TogoVar | |||||||
DHX35_chr20_38957344_39044721 | 39020656 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0017 a0001c0003t0002g0026 a0001c0003t0002g0043 others(61): Show |
78 | 207 | 0.3768 | 9 | c.149 others(28): Show |
DHX35 | ENSG00000101452.15 | transcript | ENST00000252011.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DHX37_chr12_124941826_124994131 | 124991694 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(31): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0011others(7): Show | a0002c0003t0001a0002c0003t0018a0002c0004t0002others(12): Show | a0002c0003t0001g0305 a0002c0003t0001g0311 a0002c0003t0001g0315 others(30): Show |
34 | 348 | 0.0977 | 9 | c.-26 others(20): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 2564 | chr12 | TogoVar | |||||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03130.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0132 a0001c0001t0001g0180 others(3): Show |
6 | 163 | 0.0368 | 9 | c.155 others(28): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141526702 | G | GTTTGTGT others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0293 a0002c0005t0005g0294 a0002c0005t0005g0295 others(1): Show |
4 | 331 | 0.0121 | 9 | c.327 others(26): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 24/27 | chr5 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96785475 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp2 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0124 others(8): Show |
11 | 93 | 0.1183 | 9 | c.447 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96869557 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0117 a0001c0001t0002g0010 a0001c0001t0002g0011 others(7): Show |
10 | 51 | 0.1961 | 9 | c.448 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97145282 | C | CAGTAGTA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 others(51): Show |
54 | 60 | 0.9000 | 9 | c.271 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97149730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 others(38): Show |
41 | 82 | 0.5000 | 9 | c.271 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97187281 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01071.hp1 others(33): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(33): Show |
36 | 39 | 0.9231 | 9 | c.271 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97334998 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01943.hp1 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0125 others(3): Show |
6 | 14 | 0.4286 | 9 | c.284 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570123 | T | TATTAGAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03540.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0030 a0001c0001t0002g0120 a0001c0001t0012g0003 |
3 | 88 | 0.0341 | 9 | c.324 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59742723 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 others(102): Show |
105 | 206 | 0.5097 | 9 | c.331 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59993702 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 others(50): Show |
53 | 101 | 0.5248 | 9 | c.101 others(28): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60105103 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(28): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0133 others(28): Show |
31 | 206 | 0.1505 | 9 | c.390 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60125394 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02056.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(8): Show |
11 | 51 | 0.2157 | 9 | c.213 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 2/27 | chr13 | TogoVar | |||||||
DIO1_chr1_53889187_53916086 | 53898744 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 others(10): Show |
17 | 112 | 0.1518 | 9 | c.337 others(26): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46461271 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01361.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0017others(1): Show | a0001c0001t0002a0001c0007t0005a0003c0017t0001others(1): Show | a0001c0001t0002g0133 a0001c0007t0005g0127 a0001c0007t0005g0131 others(4): Show |
7 | 88 | 0.0795 | 9 | c.91+ others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495235 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19055.hp1 NA19063.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0124 a0001c0003t0003g0309 a0001c0003t0003g0350 others(1): Show |
4 | 326 | 0.0123 | 9 | c.284 others(26): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | chr21 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495239 | C | CTTCTCTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 NA19012.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0007a0001c0004t0001 | a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0053 others(3): Show |
6 | 347 | 0.0173 | 9 | c.284 others(26): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46564544 | A | AGTCCCGA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG01192.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(9): Show | a0001c0001t0004g0048 a0001c0001t0004g0103 a0001c0001t0004g0264 others(37): Show |
40 | 372 | 0.1075 | 9 | c.416 others(26): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50511291 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(11): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(57): Show |
60 | 69 | 0.8696 | 9 | c.100 others(26): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50742394 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02129.hp1 HG02145.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0016 | a0001c0001t0001a0001c0002t0039a0005c0016t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 others(4): Show |
7 | 46 | 0.1522 | 9 | c.447 others(26): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 548911 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03453.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0007t0002 | a0001c0001t0002g0004 a0001c0002t0001g0080 a0001c0007t0002g0076 others(1): Show |
4 | 22 | 0.1818 | 9 | c.86- others(26): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 608180 | A | ACCCCCAC others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0002t0003g0029 others(1): Show |
4 | 63 | 0.0635 | 9 | c.85+ others(26): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 692096 | A | ATACATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG01952.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0003g0008 others(9): Show |
12 | 78 | 0.1538 | 9 | c.-25 others(20): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2429 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92851542 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(46): Show |
49 | 78 | 0.6282 | 9 | c.190 others(24): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92869152 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0002g0108 a0001c0001t0003g0036 a0001c0002t0002g0080 others(2): Show |
5 | 13 | 0.3846 | 9 | c.189 others(26): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048047 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02630.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(1): Show |
4 | 262 | 0.0153 | 9 | c.-65 others(24): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02293.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0022 |
6 | 54 | 0.1111 | 9 | c.-65 others(24): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIRAS3_chr1_68040962_68055627 | 68048049 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
5 | 53 | 0.0943 | 9 | c.-65 others(24): Show |
DIRAS3 | ENSG00000162595.8 | transcript | ENST00000646789.1 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232133987 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(61): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0056 others(61): Show |
64 | 83 | 0.7711 | 9 | c.703 others(26): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232303321 | A | ATGGGAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp2 others(53): Show |
a0001a0006 | a0001c0002a0001c0009a0001c0014others(3): Show | a0001c0002t0001a0001c0009t0001a0001c0014t0001others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0025 others(53): Show |
56 | 302 | 0.1854 | 9 | c.173 others(28): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232333227 | G | GCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01257.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0008 | a0001c0001t0001a0001c0001t0006a0001c0013t0002others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0110 others(6): Show |
9 | 256 | 0.0352 | 9 | c.201 others(26): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936778 | C | CATATATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0002t0001g0013 others(12): Show |
15 | 346 | 0.0434 | 9 | c.-17 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936859 | A | ATAATATA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02602.hp1 HG04228.hp1 |
a0002a0004 | a0002c0003a0002c0009a0004c0010 | a0002c0003t0001a0002c0009t0001a0004c0010t0001 | a0002c0003t0001g0089 a0002c0009t0001g0087 a0004c0010t0001g0216 |
3 | 345 | 0.0087 | 9 | c.-17 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0044 others(83): Show |
86 | 97 | 0.8866 | 9 | c.510 others(28): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222984417 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01257.hp1 HG01258.hp2 others(5): Show |
a0001a0002a0015 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(1): Show | a0001c0001t0001g0131 a0002c0003t0001g0089 a0002c0003t0001g0218 others(5): Show |
8 | 230 | 0.0348 | 9 | c.539 others(26): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522880 | G | GGACCCAG others(2): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18949.hp1 NA19004.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 a0002c0002t0002g0123 a0002c0002t0002g0154 |
3 | 356 | 0.0084 | 9 | c.236 others(28): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DIXDC1_chr11_111932343_112027653 | 111950439 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03831.hp2 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0192 a0001c0001t0002g0258 a0001c0001t0003g0130 others(1): Show |
4 | 235 | 0.0170 | 9 | c.60+ others(26): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | chr11 | TogoVar |