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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP1_chr8_130047104_130448674 | 130049822 | CACATGGG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001 | a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0171 others(6): Show |
9 | 298 | 0.0302 | -20 | c.*48 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2281 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049868 | GGGGGCAG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0278 a0001c0001t0008g0009 |
2 | 305 | 0.0066 | -20 | c.*48 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2235 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049891 | GGGCAGAG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02280.hp1 NA18944.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0003a0002c0003t0001 | a0001c0001t0002g0211 a0002c0002t0003g0119 a0002c0003t0001g0022 |
3 | 285 | 0.0105 | -20 | c.*48 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2212 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049963 | GAATACAT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 305 | 0.0033 | -20 | c.*47 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2140 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050013 | GGGGGGCA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 304 | 0.0033 | -20 | c.*46 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2090 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050029 | CACATGGG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 298 | 0.0034 | -20 | c.*46 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2074 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050085 | GGAGAACA others(13): Show |
G | downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 306 | 0.0033 | -20 | c.*46 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2018 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050133 | CACATGGG others(13): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0088 | 1 | 294 | 0.0034 | -20 | c.*45 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1970 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050158 | GGGGGGCA others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18950.hp1 NA19074.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0118 a0002c0002t0003g0138 |
2 | 288 | 0.0069 | -20 | c.*45 others(31): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1945 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070848 | GGAGAGAG others(13): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01256.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0005others(1): Show | a0001c0001t0001g0205 a0001c0001t0002g0202 a0001c0001t0002g0204 others(2): Show |
5 | 173 | 0.0289 | -20 | c.270 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 others(27): Show |
a0001a0002 | a0001c0013a0002c0002 | a0001c0013t0001a0002c0002t0001a0002c0002t0005others(5): Show | a0001c0013t0001g0156 a0002c0002t0001g0018 a0002c0002t0001g0066 others(27): Show |
30 | 60 | 0.5000 | -20 | c.240 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130107515 | AATGTATG others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(57): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(6): Show | a0002c0002t0001g0018 a0002c0002t0001g0061 a0002c0002t0001g0063 others(57): Show |
60 | 143 | 0.4196 | -20 | c.240 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130215975 | AAAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0014 a0001c0005t0001g0166 a0001c0005t0005g0285 others(5): Show |
8 | 101 | 0.0792 | -20 | c.260 others(37): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130256739 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03669.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0022 | a0002c0002t0001g0146 a0002c0002t0022g0242 |
2 | 67 | 0.0299 | -20 | c.187 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262412 | AAAAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 275 | 0.0036 | -20 | c.187 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130262416 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | NA19010.hp2 NA19074.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 a0002c0003t0001g0030 |
2 | 217 | 0.0092 | -20 | c.187 others(39): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 3/29 | chr8 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5652021 | AAAAACCA others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0032 a0001c0002t0009g0368 a0001c0002t0009g0372 others(1): Show |
5 | 363 | 0.0138 | -20 | c.232 others(35): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5653657 | CATTTATT others(13): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0398 | 1 | 66 | 0.0152 | -20 | c.44- others(33): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB13_chr10_5633867_5671595 | 5662565 | GGAGAAGA others(13): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG02300.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0003g0267 others(2): Show |
5 | 118 | 0.0424 | -20 | c.43+ others(35): Show |
ASB13 | ENSG00000196372.13 | transcript | ENST00000357700.11 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASB15_chr7_123596821_123644481 | 123620507 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00733.hp2 NA18982.hp1 NA18988.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0002 | a0001c0001t0005g0021 a0001c0001t0005g0077 a0002c0003t0002g0120 |
3 | 298 | 0.0101 | -20 | c.451 others(37): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123620536 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0139 | 1 | 369 | 0.0027 | -20 | c.451 others(37): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123623927 | AAAGAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 370 | 0.0027 | -20 | c.452 others(35): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123623931 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01261.hp1 others(11): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0243 a0001c0001t0004g0004 a0001c0001t0005g0001 others(11): Show |
14 | 77 | 0.1818 | -20 | c.452 others(35): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236252267 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02809.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0001c0003t0002a0003c0004t0004 | a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 others(2): Show |
5 | 36 | 0.1389 | -20 | c.206 others(39): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95515267 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | NA18975.hp2 NA19009.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0343 |
3 | 250 | 0.0120 | -20 | c.488 others(39): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95515304 | TCTTTCTT others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 | 1 | 385 | 0.0026 | -20 | c.488 others(39): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219575 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0218 |
2 | 151 | 0.0132 | -20 | c.670 others(37): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218161 | AAAAAATA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0067 others(4): Show |
7 | 186 | 0.0376 | -20 | c.-20 others(31): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1886 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218163 | AAAATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0052 others(5): Show |
8 | 189 | 0.0423 | -20 | c.-20 others(31): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1888 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218165 | AATATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02615.hp2 HG02818.hp1 others(11): Show |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0001a0001c0001t0002a0008c0006t0002 | a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0074 others(11): Show |
14 | 179 | 0.0782 | -20 | c.-20 others(31): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1890 | chr10 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02717.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0212 |
3 | 24 | 0.1250 | -20 | c.542 others(37): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100793733 | GAAAGGTT others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(283): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0011others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(283): Show |
286 | 312 | 0.9167 | -20 | c.139 others(39): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100801031 | CTAAAGCA others(13): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show |
a0008a0017 | a0008c0012a0008c0025a0017c0032 | a0008c0012t0009a0008c0025t0017a0017c0032t0019 | a0008c0012t0009g0312 a0008c0012t0009g0313 a0008c0025t0017g0227 others(1): Show |
4 | 312 | 0.0128 | -20 | c.923 others(35): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 5/41 | chr6 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665598 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 276 | 0.0072 | -20 | c.220 others(35): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7118481 | GAGGAAGG others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01258.hp1 HG02559.hp2 HG03471.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0161 a0001c0001t0002g0058 a0001c0001t0002g0065 others(5): Show |
8 | 260 | 0.0308 | -20 | c.-39 others(31): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3660 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332458 | GTGTATAT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0043 a0001c0001t0009g0044 |
2 | 74 | 0.0270 | -20 | c.*51 others(31): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2809 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0103 |
2 | 24 | 0.0833 | -20 | c.600 others(39): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAACAA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(28): Show | a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0033 others(79): Show |
82 | 106 | 0.7736 | -20 | c.709 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232406 | AATGGTAT others(13): Show |
A | intron_variant | MODIFIER | HG02027.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0022 a0001c0001t0026g0092 |
2 | 219 | 0.0091 | -20 | c.708 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232426 | TATGGTAT others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0051 | 1 | 234 | 0.0043 | -20 | c.708 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232446 | AATGGTAT others(13): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 a0001c0001t0011g0004 |
2 | 90 | 0.0222 | -20 | c.708 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219534764 | GCCATCCA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(175): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(102): Show |
178 | 216 | 0.8241 | -20 | c.107 others(37): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1417755 | CATGCTCC others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0031others(17): Show | a0001c0001t0001a0001c0008t0001a0001c0031t0001others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(114): Show |
119 | 130 | 0.9154 | -20 | c.152 others(37): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1423597 | CATCCACC others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02615.hp1 HG02896.hp2 others(3): Show |
a0001a0002 | a0001c0010a0001c0037a0002c0029others(1): Show | a0001c0010t0001a0001c0037t0001a0002c0029t0001others(1): Show | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(3): Show |
6 | 183 | 0.0328 | -20 | c.106 others(39): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1646609 | CCCTTCCT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03041.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0002g0142 a0001c0001t0003g0089 |
3 | 213 | 0.0141 | -20 | c.*35 others(31): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3529 | chrX | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 278 | 0.0072 | -20 | c.-93 others(35): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97861198 | GAGACGGG others(13): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 434 | 0.0023 | -20 | c.488 others(37): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASPDH_chr19_50506603_50518913 | 50509952 | CTGAGGCA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0024 | 1 | 370 | 0.0027 | -20 | c.*17 others(31): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1650 | chr19 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | TAAAAGAA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(211): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
214 | 268 | 0.7985 | -20 | c.886 others(37): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438562 | TATACACA others(13): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01496.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0092 |
5 | 426 | 0.0117 | -20 | c.887 others(37): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |