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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASPH_chr8_61495556_61719592 | 61507659 | G | GATGA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(251): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(250): Show |
254 | 258 | 0.9845 | 4 | c.212 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 24/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61523304 | T | TTTTC | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(90): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(90): Show |
93 | 258 | 0.3605 | 4 | c.190 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 22/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGTGT | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 |
3 | 258 | 0.0116 | 4 | c.176 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61550442 | T | TACAC | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01975.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 others(7): Show |
10 | 258 | 0.0388 | 4 | c.162 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 20/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61561068 | A | AAGGG | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0139 |
2 | 258 | 0.0078 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61561124 | G | GAGGA | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0180 others(10): Show |
14 | 258 | 0.0543 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61561128 | G | GAGGA | intron_variant | MODIFIER | HG02886.hp2 HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0020 a0001c0001t0005g0030 a0001c0001t0009g0012 |
3 | 258 | 0.0116 | 4 | c.143 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61562290 | A | AAGTG | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0031 others(220): Show |
224 | 258 | 0.8682 | 4 | c.143 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTG | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02129.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0089 a0001c0001t0002g0040 a0001c0001t0003g0202 others(16): Show |
19 | 258 | 0.0736 | 4 | c.143 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61577399 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02148.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0087 a0001c0001t0001g0098 others(10): Show |
13 | 258 | 0.0504 | 4 | c.106 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61577421 | A | AAAAG | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0018a0001c0001t0030others(1): Show | a0001c0001t0002g0040 a0001c0001t0018g0010 a0001c0001t0030g0196 others(3): Show |
6 | 258 | 0.0233 | 4 | c.106 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 15/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61584632 | C | CTTCT | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp1 others(86): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 others(85): Show |
89 | 258 | 0.3450 | 4 | c.977 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61590550 | C | CTGTG | intron_variant | MODIFIER | HG01192.hp2 HG02809.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0019 a0001c0001t0004g0228 a0001c0001t0005g0017 others(1): Show |
4 | 258 | 0.0155 | 4 | c.977 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61700532 | A | ATTTC | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0178 a0001c0001t0004g0252 a0001c0001t0011g0250 others(2): Show |
6 | 258 | 0.0233 | 4 | c.103 others(23): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61705817 | C | CACAT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00735.hp1 others(56): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 others(56): Show |
59 | 258 | 0.2287 | 4 | c.103 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81982744 | C | CTCTT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp1 HG01361.hp1 others(14): Show |
a0001 | a0001c0004a0001c0014a0001c0018 | a0001c0004t0001a0001c0014t0001a0001c0018t0001 | a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0177 others(12): Show |
17 | 366 | 0.0465 | 4 | c.159 others(19): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82006211 | G | GGTGT | intron_variant | MODIFIER | HG02055.hp2 HG02818.hp2 HG02965.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 others(1): Show |
4 | 366 | 0.0109 | 4 | c.934 others(21): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPSCR1_chr17_81972629_82022406 | 82013479 | G | GTGCC | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0119 a0001c0003t0001g0290 a0001c0004t0001g0172 others(3): Show |
7 | 366 | 0.0191 | 4 | c.135 others(23): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62338932 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(10): Show | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 others(74): Show |
77 | 370 | 0.2081 | 4 | c.190 others(19): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACAC | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0005g0354 others(27): Show |
30 | 370 | 0.0811 | 4 | c.491 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62364245 | G | GTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(316): Show |
321 | 370 | 0.8676 | 4 | c.491 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | T | TTATA | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0103 a0001c0001t0002g0202 a0001c0001t0002g0205 others(12): Show |
15 | 370 | 0.0405 | 4 | c.492 others(23): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62381152 | C | CTCTT | intron_variant | MODIFIER | HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0001t0038a0001c0005t0040others(3): Show | a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 others(4): Show |
7 | 370 | 0.0189 | 4 | c.492 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62384035 | C | CGTGT | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(5): Show | a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0182 others(20): Show |
23 | 370 | 0.0622 | 4 | c.492 others(21): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130442191 | T | TAAAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(118): Show |
125 | 374 | 0.3342 | 4 | c.-28 others(15): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 2769 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130448422 | G | GCGCA | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02818.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0007 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show |
6 | 374 | 0.0160 | 4 | c.-6+ others(19): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130493748 | G | GGCCT | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02280.hp1 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0017t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0329 others(14): Show |
19 | 374 | 0.0508 | 4 | c.971 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495470 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(74): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0015 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0031 others(71): Show |
77 | 374 | 0.2059 | 4 | c.112 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130495480 | C | CATAT | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | 374 | 0.0080 | 4 | c.112 others(21): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130501278 | A | AGTGT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02630.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0131 a0001c0001t0001g0193 |
3 | 374 | 0.0080 | 4 | c.*25 others(13): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5 | chr9 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130505887 | G | GATTT | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02055.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0017t0001others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0042 others(20): Show |
25 | 374 | 0.0668 | 4 | c.*48 others(15): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 4614 | chr9 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176867919 | T | TTTCC | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01346.hp1 others(8): Show |
a0001a0003 | a0001c0005a0001c0008a0003c0009 | a0001c0005t0005a0001c0008t0004a0001c0008t0005others(1): Show | a0001c0005t0005g0059 a0001c0005t0005g0102 a0001c0008t0004g0005 others(8): Show |
11 | 112 | 0.0982 | 4 | c.364 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 22/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176873287 | G | GGCCT | intron_variant | MODIFIER | HG03098.hp1 NA18522.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0012 a0001c0003t0002g0064 a0001c0003t0002g0081 |
3 | 112 | 0.0268 | 4 | c.346 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 21/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176903277 | T | TTCTC | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02257.hp1 others(2): Show |
a0003 | a0003c0009 | a0003c0009t0006 | a0003c0009t0006g0030 a0003c0009t0006g0031 a0003c0009t0006g0038 others(2): Show |
5 | 112 | 0.0446 | 4 | c.267 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176908132 | A | AACAC | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 others(5): Show |
8 | 112 | 0.0714 | 4 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176909728 | T | TAACA | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(12): Show | a0001c0001t0002g0012 a0001c0001t0008g0086 a0001c0001t0018g0054 others(27): Show |
30 | 112 | 0.2679 | 4 | c.267 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176942866 | A | ATATT | intron_variant | MODIFIER | HG00673.hp2 HG02258.hp2 HG03098.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0012 a0001c0003t0001g0002 a0001c0003t0001g0034 others(3): Show |
6 | 112 | 0.0536 | 4 | c.237 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 14/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176970555 | A | ATAGG | intron_variant | MODIFIER | HG01978.hp2 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0018a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0001t0018g0054 a0001c0002t0002g0013 a0001c0002t0002g0032 others(11): Show |
14 | 112 | 0.1250 | 4 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176970731 | G | GGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(11): Show | a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0041 others(34): Show |
37 | 112 | 0.3304 | 4 | c.152 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176985845 | T | TACAC | intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 HG02055.hp1 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0007others(3): Show | a0001c0001t0018g0054 a0001c0002t0001g0029 a0001c0002t0007g0082 others(4): Show |
7 | 112 | 0.0625 | 4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176996261 | C | CCTCT | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0005a0001c0012a0002c0014 | a0001c0005t0004a0001c0005t0005a0001c0012t0005others(1): Show | a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0005g0059 others(2): Show |
5 | 112 | 0.0446 | 4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176996308 | C | CAGAG | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0002a0001c0002t0011a0001c0002t0015others(6): Show | a0001c0002t0002g0047 a0001c0002t0011g0009 a0001c0002t0015g0039 others(13): Show |
16 | 112 | 0.1429 | 4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176996310 | C | CAGAG | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01123.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0089 a0002c0004t0003g0095 a0002c0004t0003g0097 others(1): Show |
4 | 112 | 0.0357 | 4 | c.152 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177027713 | A | AGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 NA20805.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0001a0001c0003t0012a0003c0009t0006 | a0001c0001t0001g0107 a0001c0003t0012g0087 a0003c0009t0006g0030 |
3 | 112 | 0.0268 | 4 | c.112 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 5/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177033123 | C | CTGTG | intron_variant | MODIFIER | HG00408.hp1 HG02486.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0011 | a0001c0001t0001g0028 a0001c0002t0001g0029 a0001c0006t0011g0111 |
3 | 112 | 0.0268 | 4 | c.472 others(19): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177034244 | A | AACAC | intron_variant | MODIFIER | HG00639.hp1 HG02886.hp2 HG02895.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0012a0002c0007others(1): Show | a0001c0002t0002a0001c0012t0004a0002c0007t0001others(1): Show | a0001c0002t0002g0019 a0001c0002t0002g0070 a0001c0002t0002g0084 others(3): Show |
6 | 112 | 0.0536 | 4 | c.472 others(21): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177044176 | T | TACAC | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0107 a0001c0003t0001g0002 a0001c0003t0001g0034 others(19): Show |
22 | 112 | 0.1964 | 4 | c.472 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177076278 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(9): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0008others(3): Show | a0001c0003t0008a0001c0003t0012a0001c0003t0013others(5): Show | a0001c0003t0008g0104 a0001c0003t0012g0087 a0001c0003t0013g0096 others(9): Show |
12 | 112 | 0.1071 | 4 | c.284 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177115655 | A | AAAAT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(22): Show | a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0055 others(45): Show |
48 | 112 | 0.4286 | 4 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177121083 | C | CATAT | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01070.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(36): Show |
39 | 112 | 0.3482 | 4 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar |