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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB15_chr7_123596821_123644481 | 123620544 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0008 | a0008c0010 | a0008c0010t0023 | a0008c0010t0023g0116 | 1 | 373 | 0.0027 | -18 | c.451 others(35): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123640623 | AGGAGAGG others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(345): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0003others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(78): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0053 others(290): Show |
348 | 378 | 0.9206 | -18 | c.*36 others(29): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 1143 | chr7 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236224821 | CATCTCAT others(11): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0229 | 1 | 248 | 0.0040 | -18 | c.597 others(35): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
ASB18_chr2_236188459_236269406 | 236252267 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp1 HG02451.hp2 others(16): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 others(15): Show |
19 | 50 | 0.3800 | -18 | c.206 others(37): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95484966 | GTGTGTAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0096 |
3 | 386 | 0.0078 | -18 | c.-10 others(28): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 976 | chr7 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95493374 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02083.hp1 NA18977.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 |
3 | 386 | 0.0078 | -18 | c.188 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB4_chr7_95480943_95545233 | 95505295 | TTGCATTT others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0036 a0002c0002t0004g0037 |
2 | 386 | 0.0052 | -18 | c.487 others(35): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
ASB4_chr7_95480943_95545233 | 95515249 | TTCCTTCT others(11): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 | 1 | 386 | 0.0026 | -18 | c.488 others(37): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219556 | AATATGTA others(11): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 398 | 0.0025 | -18 | c.670 others(35): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219575 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 a0001c0002t0002g0331 a0001c0002t0002g0344 others(1): Show |
5 | 154 | 0.0325 | -18 | c.670 others(35): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218159 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0115 |
2 | 208 | 0.0096 | -18 | c.-20 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1884 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218161 | AAAAAATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01993.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0002g0106 others(4): Show |
7 | 186 | 0.0376 | -18 | c.-20 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1886 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218163 | AAAATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02165.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
5 | 186 | 0.0269 | -18 | c.-20 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1888 | chr10 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72218165 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0002g0055 others(1): Show |
4 | 169 | 0.0237 | -18 | c.-20 others(29): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1890 | chr10 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0244 others(2): Show |
5 | 26 | 0.1923 | -18 | c.542 others(35): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
ASCC2_chr22_29783611_29843274 | 29824251 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 41 | 0.0244 | -18 | c.411 others(33): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 4/19 | chr22 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608659 | TTTATATA others(11): Show |
T | intron_variant | MODIFIER | HG02132.hp1 NA18945.hp1 NA18955.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0174 a0003c0004t0004g0178 a0003c0004t0004g0195 others(1): Show |
4 | 304 | 0.0132 | -18 | c.478 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723860 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp1 HG02486.hp1 others(6): Show |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0001a0001c0002t0011a0007c0010t0007 | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(6): Show |
9 | 61 | 0.1475 | -18 | c.190 others(37): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCL3_chr11_8932578_8948016 | 8946547 | GCTAGGAC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015 | 1 | 438 | 0.0023 | -18 | c.-35 others(29): Show |
ASCL3 | ENSG00000176009.4 | transcript | ENST00000531618.2 | protein_coding | 3532 | chr11 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | NA18946.hp2 NA18970.hp1 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0002g0023 a0001c0001t0002g0072 |
5 | 88 | 0.0568 | -18 | c.220 others(33): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASF1B_chr19_14114512_14141589 | 14134201 | CATCTCCT others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 332 | 0.0030 | -18 | c.109 others(35): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411582 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp1 HG01516.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0010a0001c0009t0015 | a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0076 others(8): Show |
11 | 137 | 0.0803 | -18 | c.600 others(37): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 23 | 0.0435 | -18 | c.600 others(37): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03453.hp1 HG03516.hp2 others(4): Show |
a0001a0011 | a0001c0001a0001c0008a0011c0014 | a0001c0001t0001a0001c0008t0002a0011c0014t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show |
7 | 60 | 0.1167 | -18 | c.421 others(35): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155542123 | GGAGGGGG others(11): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 180 | 0.0056 | -18 | c.-10 others(39): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50074860 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00733.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0058 others(8): Show |
23 | 48 | 0.4792 | -18 | c.559 others(35): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33288715 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0003g0058 a0001c0001t0003g0081 a0001c0002t0001g0110 others(46): Show |
49 | 88 | 0.5568 | -18 | c.708 others(35): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33294892 | GCTGTACT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 238 | 0.0042 | -18 | c.-27 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1598 | chr17 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1403027 | TCCTCCTT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0037 | 1 | 183 | 0.0055 | -18 | c.*22 others(27): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 111 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1417755 | CATGCTCC others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0010a0001c0012a0001c0035others(17): Show | a0001c0010t0001a0001c0012t0001a0001c0035t0001others(19): Show | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(50): Show |
53 | 64 | 0.8281 | -18 | c.152 others(35): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1450078 | CCCCATCA others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp1 HG01975.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0004others(2): Show | a0001c0001t0001a0001c0008t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0089 a0001c0008t0001g0150 a0001c0008t0001g0160 others(5): Show |
8 | 183 | 0.0437 | -18 | c.93+ others(33): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | TATAATAA others(11): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 a0001c0001t0002g0142 |
2 | 84 | 0.0238 | -18 | c.70- others(33): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | NA18946.hp2 NA18970.hp1 NA19006.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0032 a0001c0001t0002g0084 a0001c0002t0001g0026 |
4 | 85 | 0.0471 | -18 | c.-93 others(33): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 13 | 0.0769 | -18 | c.103 others(37): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197087531 | TATTATAG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(77): Show |
a0001a0007a0012others(6): Show | a0001c0001a0001c0008a0001c0026others(8): Show | a0001c0001t0001a0001c0001t0009a0001c0008t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(52): Show |
80 | 294 | 0.2721 | -18 | c.101 others(37): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 26/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197149810 | TCACACTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(80): Show |
a0001a0007a0008others(7): Show | a0001c0001a0001c0008a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0008t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(53): Show |
83 | 294 | 0.2823 | -18 | c.-33 others(29): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 3142 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362544 | ATATATAA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp1 others(79): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0003g0003 others(77): Show |
82 | 368 | 0.2228 | -18 | c.491 others(35): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362552 | CATATATT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(59): Show |
64 | 224 | 0.2857 | -18 | c.491 others(35): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0337 | 1 | 2 | 0.5000 | -18 | c.491 others(35): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp1 HG02622.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0024others(2): Show | a0001c0001t0002g0190 a0001c0001t0002g0232 a0001c0001t0002g0249 others(11): Show |
14 | 90 | 0.1556 | -18 | c.492 others(37): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375464 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG03017.hp2 NA18978.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0137 a0001c0001t0003g0160 a0001c0001t0003g0168 others(8): Show |
11 | 368 | 0.0299 | -18 | c.492 others(37): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176942816 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0015a0001c0005t0004 | a0001c0002t0015g0039 a0001c0005t0004g0072 a0001c0005t0004g0084 |
3 | 110 | 0.0273 | -18 | c.237 others(37): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177027713 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0111 | 1 | 32 | 0.0313 | -18 | c.112 others(37): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116457085 | AGAACACA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0005 | a0005c0024 | a0005c0024t0013 | a0005c0024t0013g0101 | 1 | 100 | 0.0100 | -18 | c.349 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116490272 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0006 | 1 | 17 | 0.0588 | -18 | c.335 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116530094 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG02572.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0010a0001c0013t0009 | a0001c0002t0010g0063 a0001c0013t0009g0072 |
2 | 71 | 0.0282 | -18 | c.335 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116530134 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0098 | 1 | 100 | 0.0100 | -18 | c.335 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565385 | CTCCATAT others(11): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 94 | 0.0106 | -18 | c.335 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565387 | CCATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0011 | 1 | 62 | 0.0161 | -18 | c.335 others(39): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116731178 | GTAATAAT others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0018 a0001c0001t0005g0077 a0001c0001t0007g0078 |
3 | 12 | 0.2500 | -18 | c.252 others(37): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 14/22 | chr9 | TogoVar |