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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATS2_chr12_49362462_49532425 | 49375178 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 a0001c0001t0002g0057 |
2 | 156 | 0.0128 | -15 | c.-24 others(34): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49437581 | CCTCGGGA others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 156 | 0.0064 | -15 | c.-24 others(36): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49438277 | GCAGTGTT others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0015 |
2 | 156 | 0.0128 | -15 | c.-24 others(36): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49499391 | GTTGTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0128 others(12): Show |
15 | 72 | 0.2083 | -15 | c.704 others(30): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516153 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 155 | 0.0065 | -15 | c.898 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516155 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 others(9): Show |
12 | 152 | 0.0789 | -15 | c.898 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516157 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0154 others(19): Show |
22 | 153 | 0.1438 | -15 | c.898 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516159 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0133 others(3): Show |
6 | 156 | 0.0385 | -15 | c.898 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516161 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 156 | 0.0064 | -15 | c.898 others(32): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49529850 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0051 | 1 | 155 | 0.0065 | -15 | c.*35 others(26): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2426 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49529851 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(51): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(51): Show |
54 | 156 | 0.3462 | -15 | c.*35 others(26): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2427 | chr12 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168885248 | CAGAAGGA others(8): Show |
C | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 360 | 0.0028 | -15 | c.199 others(32): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176331078 | CCAATTCA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002 | 1 | 468 | 0.0021 | -15 | c.*27 others(26): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 5/5 | 2750 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPDYA_chr2_28805834_28855610 | 28816980 | AGATTGTA others(8): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02965.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0330 a0001c0003t0004g0326 a0001c0003t0004g0327 others(1): Show |
4 | 336 | 0.0119 | -15 | c.235 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819842 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 331 | 0.0030 | -15 | c.294 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819848 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18990.hp1 NA19043.hp1 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0310 others(2): Show |
5 | 297 | 0.0168 | -15 | c.294 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819850 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02523.hp2 NA18522.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0274 a0001c0001t0001g0276 others(8): Show |
11 | 301 | 0.0365 | -15 | c.294 others(30): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28854738 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG04204.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0239 a0001c0001t0001g0314 |
3 | 60 | 0.0500 | -15 | c.*47 others(26): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4129 | chr2 | TogoVar | |||||||
SPDYC_chr11_65165233_65178374 | 65166379 | CTTTTTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 433 | 0.0023 | -15 | c.-39 others(26): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3853 | chr11 | TogoVar | |||||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02074.hp2 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
10 | 114 | 0.0877 | -15 | c.-39 others(26): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73154816 | ACAGCAGC others(8): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0004 | a0001c0001t0006g0006 a0002c0003t0004g0009 |
2 | 197 | 0.0102 | -15 | c.-64 others(32): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74908651 | GTTTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0111 | 1 | 348 | 0.0029 | -15 | c.494 others(30): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG01346.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0017 | a0003c0003t0001g0022 a0003c0003t0001g0035 a0003c0003t0017g0131 |
6 | 13 | 0.4615 | -15 | c.130 others(30): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74918934 | ATTGTGTG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 345 | 0.0029 | -15 | c.-44 others(26): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 3857 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76543888 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp1 NA19030.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0003a0005c0005t0013 | a0002c0002t0003g0002 a0005c0005t0013g0139 |
2 | 254 | 0.0079 | -15 | c.-11 others(26): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 592 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01070.hp2 others(26): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007 a0004c0004t0004g0015 a0004c0004t0004g0019 others(4): Show |
29 | 83 | 0.3494 | -15 | c.380 others(30): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102658086 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01081.hp1 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0014 a0001c0001t0001g0054 a0001c0001t0001g0093 others(45): Show |
57 | 66 | 0.8636 | -15 | c.755 others(30): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE6_chr7_102340746_102361444 | 102351914 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02572.hp2 others(5): Show |
a0005a0019 | a0005c0006a0019c0034 | a0005c0006t0004a0005c0006t0027a0019c0034t0004 | a0005c0006t0004g0202 a0005c0006t0004g0204 a0005c0006t0004g0205 others(5): Show |
8 | 404 | 0.0198 | -15 | c.669 others(30): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102351916 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0184 | 1 | 436 | 0.0023 | -15 | c.669 others(30): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102351918 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01928.hp2 HG02572.hp1 others(6): Show |
a0002a0021 | a0002c0002a0021c0026 | a0002c0002t0002a0021c0026t0017 | a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0032 others(3): Show |
9 | 350 | 0.0257 | -15 | c.669 others(30): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102351920 | CACACAAA others(8): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 424 | 0.0024 | -15 | c.669 others(30): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083722 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025 a0001c0001t0006g0006 |
2 | 153 | 0.0131 | -15 | c.130 others(30): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24288615 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0143 | 1 | 101 | 0.0099 | -15 | c.-38 others(34): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0012 | a0001c0001t0005a0001c0009t0034a0004c0012t0001 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(5): Show |
8 | 12 | 0.6667 | -15 | c.308 others(36): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24393111 | ATAGGCGC others(8): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 324 | 0.0031 | -15 | c.308 others(36): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24418812 | CAGGGAGA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | 324 | 0.0062 | -15 | c.*41 others(26): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1075 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24421457 | GCAAGGAT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG03139.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0268 a0001c0001t0004g0014 a0001c0001t0004g0015 others(19): Show |
22 | 324 | 0.0679 | -15 | c.*68 others(26): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3720 | chr22 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20019853 | ATCACTGG others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0041a0001c0003t0007a0001c0003t0012others(65): Show | a0001c0001t0041g0019 a0001c0003t0007g0056 a0001c0003t0007g0059 others(144): Show |
147 | 248 | 0.5927 | -15 | c.-22 others(34): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20021668 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02647.hp2 others(14): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(11): Show | a0001c0003t0007g0205 a0001c0003t0007g0206 a0001c0003t0007g0207 others(14): Show |
17 | 248 | 0.0685 | -15 | c.-22 others(34): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20238976 | TTTCAGAA others(8): Show |
T | intron_variant | MODIFIER | NA19076.hp1 | a0004 | a0004c0005 | a0004c0005t0069 | a0004c0005t0069g0232 | 1 | 248 | 0.0040 | -15 | c.235 others(34): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20287423 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(52): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(110): Show |
113 | 132 | 0.8561 | -15 | c.294 others(34): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20299565 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(36): Show |
a0003 | a0003c0004a0003c0007a0003c0012others(1): Show | a0003c0004t0003a0003c0004t0009a0003c0004t0013others(13): Show | a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0078 others(36): Show |
39 | 248 | 0.1573 | -15 | c.305 others(34): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35671486 | TAATGCCA others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01891.hp2 others(23): Show |
a0004a0006a0007others(5): Show | a0004c0012a0006c0008a0007c0011others(7): Show | a0004c0012t0001a0006c0008t0001a0007c0011t0001others(7): Show | a0004c0012t0001g0114 a0006c0008t0001g0025 a0006c0008t0001g0039 others(23): Show |
26 | 266 | 0.0977 | -15 | c.152 others(34): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35754262 | AATTGCAC others(8): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0068 | 1 | 266 | 0.0038 | -15 | c.346 others(32): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219438020 | CGGATATG others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0077 | a0001c0077t0001 | a0001c0077t0001g0238 | 1 | 302 | 0.0033 | -15 | c.388 others(32): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219463392 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0048 | a0002c0048t0004 | a0002c0048t0004g0140 | 1 | 38 | 0.0263 | -15 | c.270 others(34): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44596660 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0010 | a0010c0011 | a0010c0011t0003 | a0010c0011t0003g0173 | 1 | 17 | 0.0588 | -15 | c.416 others(32): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 24/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44633324 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 27 | 0.0370 | -15 | c.173 others(32): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44636925 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0015 | a0015c0027 | a0015c0027t0001 | a0015c0027t0001g0140 | 1 | 139 | 0.0072 | -15 | c.160 others(34): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44636943 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0018 a0002c0002t0002g0020 a0002c0002t0002g0022 |
3 | 180 | 0.0167 | -15 | c.160 others(34): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar |