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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC1_chr10_21751548_22008730 | 21813220 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0002 | a0001c0001t0001g0119 a0002c0007t0002g0161 |
2 | 164 | 0.0122 | 8 | c.979 others(25): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21870953 | G | GAAGGAAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(83): Show |
86 | 164 | 0.5244 | 8 | c.978 others(27): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 8/11 | chr10 | TogoVar | |||||||
DNAJC1_chr10_21751548_22008730 | 21883251 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(27): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0037 others(27): Show |
30 | 164 | 0.1829 | 8 | c.821 others(23): Show |
DNAJC1 | ENSG00000136770.11 | transcript | ENST00000376980.8 | protein_coding | 7/11 | chr10 | TogoVar | |||||||
DNAJC22_chr12_49341888_49358690 | 49352538 | A | ATAAGTAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 a0001c0001t0005g0012 |
11 | 362 | 0.0304 | 8 | c.*10 others(19): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 4/4 | 1048 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAJC22_chr12_49341888_49358690 | 49352546 | G | GTAAATAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0027 | a0001c0001t0014g0003 a0001c0001t0014g0016 a0001c0001t0027g0003 |
4 | 362 | 0.0111 | 8 | c.*10 others(19): Show |
DNAJC22 | ENSG00000178401.16 | transcript | ENST00000549441.7 | protein_coding | 4/4 | 1066 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAJC24_chr11_31364860_31437835 | 31403125 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02683.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0169 a0001c0001t0001g0178 others(6): Show |
10 | 354 | 0.0283 | 8 | c.112 others(27): Show |
DNAJC24 | ENSG00000170946.15 | transcript | ENST00000465995.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNAJC25_chr9_111626334_111659345 | 111642603 | C | CAATAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(67): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0002a0001c0002t0007a0001c0006t0002others(2): Show | a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0222 others(39): Show |
70 | 412 | 0.1699 | 8 | c.337 others(25): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95764683 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0003g0361 others(4): Show |
7 | 374 | 0.0187 | 8 | c.107 others(25): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95764683 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02074.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0360 a0001c0001t0003g0036 a0001c0001t0003g0058 others(2): Show |
5 | 374 | 0.0134 | 8 | c.107 others(25): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66034176 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0108 others(25): Show |
28 | 254 | 0.1102 | 8 | c.-14 others(27): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66095658 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18995.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0217 |
3 | 254 | 0.0118 | 8 | c.506 others(25): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAJC5B_chr8_66016553_66106245 | 66099036 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0007 | a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0002t0005g0008 others(6): Show |
9 | 254 | 0.0354 | 8 | c.506 others(23): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAJC5G_chr2_27270433_27286499 | 27277249 | C | CGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057 a0001c0001t0002g0012 a0001c0001t0002g0023 others(5): Show |
14 | 340 | 0.0412 | 8 | c.113 others(23): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAJC5G_chr2_27270433_27286499 | 27283784 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01515.hp1 HG01517.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0052 others(3): Show |
8 | 340 | 0.0235 | 8 | c.*33 others(19): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 2286 | chr2 | TogoVar | |||||||
DNAJC5G_chr2_27270433_27286499 | 27283784 | G | GCGCACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0002 others(2): Show |
8 | 340 | 0.0235 | 8 | c.*33 others(19): Show |
DNAJC5G | ENSG00000163793.13 | transcript | ENST00000296097.8 | protein_coding | 2286 | chr2 | TogoVar | |||||||
DNAJC6_chr1_65304543_65420871 | 65397537 | G | GCATCTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG02056.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0007 | a0001c0003t0001g0155 a0001c0003t0001g0202 a0001c0003t0003g0073 others(6): Show |
9 | 326 | 0.0276 | 8 | c.203 others(27): Show |
DNAJC6 | ENSG00000116675.16 | transcript | ENST00000371069.5 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAJC7_chr17_41971435_42022439 | 41986047 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02129.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0134 others(7): Show |
10 | 338 | 0.0296 | 8 | c.101 others(27): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
DNAJC7_chr17_41971435_42022439 | 42006796 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(91): Show |
103 | 338 | 0.3047 | 8 | c.78- others(23): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
DNAJC8_chr1_28195278_28238029 | 28212155 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0172 a0001c0001t0002g0173 |
3 | 250 | 0.0120 | 8 | c.238 others(25): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
DNAJC8_chr1_28195278_28238029 | 28212168 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02602.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0001g0083 others(3): Show |
6 | 250 | 0.0240 | 8 | c.238 others(25): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73641211 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0037 | a0001c0001t0029g0079 a0001c0001t0029g0081 a0001c0001t0037g0080 |
3 | 340 | 0.0088 | 8 | c.-38 others(19): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 3774 | chr14 | TogoVar | |||||||
DNAL1_chr14_73639986_73708732 | 73648403 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18612.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027 | a0001c0001t0009g0153 a0001c0001t0027g0002 a0001c0001t0027g0152 |
4 | 340 | 0.0118 | 8 | c.3+3 others(21): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73677882 | A | ATATTTGT others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0007g0213 a0001c0001t0008g0139 a0001c0001t0014g0328 others(4): Show |
7 | 340 | 0.0206 | 8 | c.264 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73677884 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00621.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(22): Show | a0001c0001t0001g0257 a0001c0001t0005g0091 a0001c0001t0005g0092 others(47): Show |
51 | 340 | 0.1500 | 8 | c.264 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73681631 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020 | a0001c0001t0012g0198 a0001c0001t0012g0199 a0001c0001t0012g0200 others(3): Show |
6 | 340 | 0.0177 | 8 | c.265 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAL1_chr14_73639986_73708732 | 73694237 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(81): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0237 a0001c0001t0001g0240 others(80): Show |
84 | 340 | 0.2471 | 8 | c.533 others(25): Show |
DNAL1 | ENSG00000119661.15 | transcript | ENST00000553645.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNASE1L1_chrX_154396236_154414254 | 154396693 | A | AATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0137 a0001c0001t0004g0138 others(2): Show |
8 | 279 | 0.0287 | 8 | c.*60 others(19): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4542 | chrX | TogoVar | |||||||
DNASE2B_chr1_84393484_84420018 | 84396603 | A | ATCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02056.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
3 | 426 | 0.0070 | 8 | c.-19 others(19): Show |
DNASE2B | ENSG00000137976.8 | transcript | ENST00000370665.4 | protein_coding | 1880 | chr1 | TogoVar | |||||||
DNASE2_chr19_12870209_12886449 | 12879146 | A | ATAAGTAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01255.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0023 others(10): Show |
27 | 372 | 0.0726 | 8 | c.347 others(23): Show |
DNASE2 | ENSG00000105612.10 | transcript | ENST00000222219.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229387505 | A | AAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG03516.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0003a0002c0003t0001 | a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0084 others(6): Show |
9 | 176 | 0.0511 | 8 | c.185 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229387509 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0081 |
2 | 176 | 0.0114 | 8 | c.185 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229413321 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0001a0001c0015t0001 | a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0040 others(10): Show |
13 | 176 | 0.0739 | 8 | c.160 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229430687 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01981.hp2 HG02040.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0052 others(5): Show |
8 | 176 | 0.0455 | 8 | c.148 others(29): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 8/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229499931 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01981.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0041 others(16): Show |
19 | 176 | 0.1080 | 8 | c.114 others(29): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229505177 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01243.hp2 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0062 others(13): Show |
16 | 176 | 0.0909 | 8 | c.114 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229546798 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0101 |
2 | 176 | 0.0114 | 8 | c.993 others(23): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229546826 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0148 |
3 | 176 | 0.0171 | 8 | c.993 others(23): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229550776 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061 |
3 | 176 | 0.0171 | 8 | c.848 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229551377 | T | TGGGAGGC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01255.hp1 others(26): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(26): Show |
29 | 176 | 0.1648 | 8 | c.848 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229647177 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0119 |
2 | 176 | 0.0114 | 8 | c.277 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229656985 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(104): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 others(104): Show |
107 | 176 | 0.6080 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229668573 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02109.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0051 others(1): Show |
4 | 176 | 0.0227 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229669369 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0005 a0001c0001t0001g0056 a0001c0001t0001g0090 others(4): Show |
7 | 176 | 0.0398 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229681827 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG01261.hp2 others(9): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0066 others(9): Show |
12 | 176 | 0.0682 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229684101 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0096 |
3 | 176 | 0.0171 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229700288 | G | GTGTGTGC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp2 others(22): Show |
a0001a0004a0008 | a0001c0001a0001c0007a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show |
25 | 176 | 0.1421 | 8 | c.276 others(27): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229710983 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0175 others(1): Show |
4 | 176 | 0.0227 | 8 | c.276 others(25): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNM1L_chr12_32674301_32750650 | 32699975 | C | CTAAATCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(5): Show | a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0019 others(51): Show |
55 | 230 | 0.2391 | 8 | c.103 others(25): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32716742 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0086 a0001c0001t0011g0192 a0001c0001t0011g0193 others(1): Show |
4 | 230 | 0.0174 | 8 | c.620 others(25): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNM1_chr9_128198379_128260244 | 128200836 | C | CAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(305): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(303): Show |
308 | 350 | 0.8800 | 8 | c.-26 others(19): Show |
DNM1 | ENSG00000106976.22 | transcript | ENST00000372923.8 | protein_coding | 2542 | chr9 | TogoVar |