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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACLY_chr17_41861918_41923951 | 41912111 | C | CA | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02809.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0183 a0001c0001t0001g0184 others(9): Show |
12 | 286 | 0.0420 | 1 | c.282 others(8): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 3/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41916378 | G | GT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(14): Show |
17 | 265 | 0.0642 | 1 | c.-23 others(9): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41916382 | T | TG | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(37): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0014 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0002g0034 a0001c0001t0002g0291 a0002c0002t0001g0054 others(37): Show |
40 | 292 | 0.1370 | 1 | c.-23 others(18): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41916687 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(65): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(8): Show | a0001c0001t0001g0048 a0001c0001t0001g0255 a0001c0001t0002g0009 others(65): Show |
68 | 292 | 0.2329 | 1 | c.-24 others(9): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41917134 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00673.hp2 others(60): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(60): Show |
63 | 261 | 0.2414 | 1 | c.-24 others(9): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41921479 | G | GA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01192.hp1 others(12): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0097 others(12): Show |
15 | 290 | 0.0517 | 1 | c.-26 others(6): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 2529 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41922370 | C | CA | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01175.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(29): Show |
32 | 287 | 0.1115 | 1 | c.-35 others(6): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 3420 | chr17 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CA | intron_variant | MODIFIER | HG00558.hp2 HG01123.hp1 HG01952.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(20): Show |
27 | 169 | 0.1598 | 1 | c.57+ others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134847855 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(46): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0001a0006c0006t0001 | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0234 others(45): Show |
49 | 127 | 0.3858 | 1 | c.102 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134850269 | C | CT | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 others(6): Show |
9 | 380 | 0.0237 | 1 | c.102 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134853167 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(180): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0001a0001c0004t0001a0005c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(170): Show |
183 | 313 | 0.5847 | 1 | c.103 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134855039 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(228): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(213): Show |
231 | 379 | 0.6095 | 1 | c.103 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134856905 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(232): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(217): Show |
235 | 379 | 0.6201 | 1 | c.103 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134860856 | C | CA | intron_variant | MODIFIER | HG01169.hp1 HG01261.hp1 HG02071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0169 others(13): Show |
17 | 84 | 0.2024 | 1 | c.200 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134861787 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0031 others(73): Show |
77 | 380 | 0.2026 | 1 | c.200 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134861817 | A | AG | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01358.hp2 others(14): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0001t0001g0323 others(14): Show |
17 | 380 | 0.0447 | 1 | c.200 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134863057 | A | AG | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(94): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(87): Show |
97 | 380 | 0.2553 | 1 | c.250 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134864268 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0027 others(72): Show |
76 | 375 | 0.2027 | 1 | c.486 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134864624 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(303): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(287): Show |
306 | 380 | 0.8053 | 1 | c.486 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134868347 | T | TA | intron_variant | MODIFIER | NA18959.hp1 NA18983.hp1 NA18988.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | 380 | 0.0158 | 1 | c.580 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134868451 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(227): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(212): Show |
230 | 368 | 0.6250 | 1 | c.580 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134871511 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(241): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(232): Show |
244 | 373 | 0.6542 | 1 | c.676 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134871960 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(267): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(253): Show |
270 | 351 | 0.7692 | 1 | c.677 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134877700 | A | AG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0128 others(49): Show |
53 | 377 | 0.1406 | 1 | c.849 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134883265 | C | CA | intron_variant | MODIFIER | HG01099.hp2 HG01361.hp2 HG01516.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0118 others(6): Show |
11 | 380 | 0.0289 | 1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134884952 | T | TC | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011 a0001c0001t0001g0169 a0001c0004t0001g0170 others(2): Show |
6 | 380 | 0.0158 | 1 | c.849 others(20): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134885298 | T | TA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(44): Show |
a0001a0004a0007 | a0001c0001a0001c0009a0004c0005others(1): Show | a0001c0001t0001a0001c0009t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(39): Show |
47 | 380 | 0.1237 | 1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134885319 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01175.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0096 others(14): Show |
17 | 336 | 0.0506 | 1 | c.849 others(20): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134885368 | A | AT | intron_variant | MODIFIER | HG01243.hp1 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0230 a0001c0001t0001g0333 |
3 | 366 | 0.0082 | 1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134886243 | A | AT | intron_variant | MODIFIER | HG02895.hp1 HG03098.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0001g0287 others(1): Show |
4 | 324 | 0.0123 | 1 | c.850 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134886246 | A | AT | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(15): Show |
18 | 279 | 0.0645 | 1 | c.850 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134886248 | T | TA | intron_variant | MODIFIER | HG01496.hp2 HG03579.hp1 HG03927.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0072 others(8): Show |
11 | 380 | 0.0289 | 1 | c.850 others(20): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134893209 | A | AT | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp2 HG03471.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0238 others(7): Show |
11 | 92 | 0.1196 | 1 | c.850 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134897437 | A | AT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0234 others(50): Show |
54 | 380 | 0.1421 | 1 | c.850 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134897885 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(96): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(90): Show |
99 | 378 | 0.2619 | 1 | c.850 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134898149 | G | GA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0234 others(50): Show |
54 | 379 | 0.1425 | 1 | c.850 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32389669 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(99): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(91): Show |
102 | 200 | 0.5100 | 1 | c.-23 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32389800 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(86): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 others(80): Show |
89 | 246 | 0.3618 | 1 | c.-23 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32394945 | G | GC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0023a0002c0004t0064 | a0002c0004t0023g0008 a0002c0004t0064g0221 |
4 | 380 | 0.0105 | 1 | c.-23 others(10): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32394948 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(282): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(107): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(259): Show |
285 | 380 | 0.7500 | 1 | c.-23 others(20): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32395475 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(108): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(261): Show |
289 | 380 | 0.7605 | 1 | c.-22 others(10): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32398577 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp1 others(36): Show |
a0001a0010a0015 | a0001c0001a0001c0002a0010c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 others(33): Show |
39 | 270 | 0.1444 | 1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32399807 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(72): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 others(146): Show |
162 | 376 | 0.4309 | 1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32399966 | G | GT | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01109.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0080 others(22): Show |
27 | 76 | 0.3553 | 1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32399972 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp1 others(32): Show |
a0001a0010a0015 | a0001c0001a0001c0002a0010c0013others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 others(29): Show |
35 | 380 | 0.0921 | 1 | c.-22 others(18): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32401332 | G | GT | intron_variant | MODIFIER | HG01515.hp1 NA18956.hp2 NA18964.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0018others(4): Show | a0001c0001t0001g0119 a0001c0001t0016g0120 a0001c0001t0018g0033 others(4): Show |
7 | 327 | 0.0214 | 1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32401388 | A | AT | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02630.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(3): Show | a0001c0001t0001g0238 a0001c0001t0007g0271 a0001c0001t0014g0224 others(5): Show |
9 | 377 | 0.0239 | 1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32410749 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(107): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0238 a0001c0001t0001g0265 a0001c0001t0001g0278 others(97): Show |
110 | 380 | 0.2895 | 1 | c.404 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32413026 | A | AT | intron_variant | MODIFIER | HG01515.hp2 HG02451.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0007a0001c0001t0082a0001c0001t0108others(3): Show | a0001c0001t0007g0318 a0001c0001t0082g0204 a0001c0001t0108g0139 others(3): Show |
6 | 379 | 0.0158 | 1 | c.404 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32413482 | C | CA | intron_variant | MODIFIER | HG01074.hp1 HG01361.hp2 NA18993.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0003g0075 others(3): Show |
6 | 78 | 0.0769 | 1 | c.405 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |