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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRBD1_chr2_45383680_45616267 | 45415642 | A | AGGAGG | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0034 a0001c0001t0001g0186 a0001c0001t0001g0210 others(18): Show |
21 | 299 | 0.0702 | 5 | c.233 others(24): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415676 | G | GGGGAC | intron_variant | MODIFIER | HG00733.hp1 HG01981.hp2 HG02055.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0001 | a0001c0001t0003g0127 a0003c0003t0001g0292 a0003c0003t0001g0294 others(2): Show |
5 | 323 | 0.0155 | 5 | c.233 others(24): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415687 | G | GGGAGA | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0181 others(9): Show |
12 | 223 | 0.0538 | 5 | c.233 others(24): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415748 | C | CGAGAG | intron_variant | MODIFIER | HG01074.hp2 HG01256.hp2 HG01258.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0018a0003c0003 | a0001c0001t0001a0001c0018t0001a0003c0003t0001 | a0001c0001t0001g0034 a0001c0001t0001g0116 a0001c0001t0001g0224 others(20): Show |
23 | 205 | 0.1122 | 5 | c.233 others(24): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45415753 | G | GGAGAC | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 NA18952.hp1 |
a0001a0004 | a0001c0001a0004c0019a0004c0020 | a0001c0001t0001a0004c0019t0001a0004c0020t0001 | a0001c0001t0001g0352 a0004c0019t0001g0077 a0004c0020t0001g0082 |
3 | 349 | 0.0086 | 5 | c.233 others(24): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45437357 | T | TAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0019others(1): Show | a0001c0001t0001a0002c0004t0001a0004c0019t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 others(4): Show |
7 | 50 | 0.1400 | 5 | c.205 others(26): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45445550 | T | TAAAAA | intron_variant | MODIFIER | HG01975.hp1 HG02004.hp2 HG02015.hp1 others(18): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0006others(1): Show | a0001c0001t0001a0003c0003t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0327 a0003c0003t0001g0004 a0003c0003t0001g0059 others(18): Show |
21 | 178 | 0.1180 | 5 | c.205 others(26): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45503216 | G | GAAGAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0014others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(203): Show |
207 | 356 | 0.5815 | 5 | c.187 others(26): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45509598 | A | ACACAC | intron_variant | MODIFIER | HG00642.hp2 NA18995.hp2 NA19007.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0320 a0002c0002t0001g0017 a0003c0003t0001g0284 |
3 | 41 | 0.0732 | 5 | c.187 others(26): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38541241 | A | AAAAAT | intron_variant | MODIFIER | HG01978.hp1 HG02135.hp2 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 others(10): Show |
13 | 202 | 0.0644 | 5 | c.341 others(24): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 18/18 | chr17 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38583550 | T | TTTTTG | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0008a0001c0006t0011 | a0001c0003t0008g0001 a0001c0003t0008g0164 a0001c0003t0008g0180 others(1): Show |
7 | 260 | 0.0269 | 5 | c.23- others(20): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SRD5A1_chr5_6628440_6679386 | 6672274 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG02630.hp1 NA18612.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0065a0001c0001t0070others(3): Show | a0001c0001t0016g0036 a0001c0001t0016g0167 a0001c0001t0016g0168 others(10): Show |
15 | 404 | 0.0371 | 5 | c.*40 others(16): Show |
SRD5A1 | ENSG00000145545.13 | transcript | ENST00000274192.7 | protein_coding | 5/5 | 4027 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SRD5A2_chr2_31517480_31585938 | 31532655 | T | TATGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(263): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(244): Show |
266 | 384 | 0.6927 | 5 | c.445 others(20): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31547100 | A | AAAAAT | intron_variant | MODIFIER | HG01106.hp1 HG02970.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0023 | a0001c0001t0007g0357 a0001c0001t0007g0358 a0001c0001t0007g0359 others(1): Show |
4 | 384 | 0.0104 | 5 | c.282 others(24): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41864324 | T | TATATA | intron_variant | MODIFIER | HG01934.hp1 HG01943.hp1 HG02004.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 |
3 | 244 | 0.0123 | 5 | c.89- others(20): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64752144 | G | GTTTTT | intron_variant | MODIFIER | NA18949.hp1 NA18953.hp1 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0134 a0001c0001t0003g0239 a0001c0001t0003g0244 others(2): Show |
5 | 200 | 0.0250 | 5 | c.61+ others(20): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
SREK1IP1_chr5_64713148_64773691 | 64757861 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0049a0001c0007t0003 | a0001c0001t0003g0028 a0001c0001t0003g0229 a0001c0001t0003g0230 others(9): Show |
13 | 112 | 0.1161 | 5 | c.14- others(20): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SREK1_chr5_66139300_66188615 | 66184223 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0046 others(17): Show |
22 | 30 | 0.7333 | 5 | c.*53 others(16): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 609 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63842221 | C | CATTTT | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03688.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0093a0002c0004t0009 | a0001c0001t0093g0052 a0002c0004t0009g0053 |
2 | 83 | 0.0241 | 5 | c.-25 others(16): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 2478 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63842221 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02135.hp1 HG02300.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0095a0001c0001t0098a0001c0001t0105others(7): Show | a0001c0001t0095g0064 a0001c0001t0098g0074 a0001c0001t0105g0067 others(7): Show |
10 | 91 | 0.1099 | 5 | c.-25 others(16): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 2478 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63861302 | A | ATATAT | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02451.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0071a0001c0001t0094a0001c0001t0140others(9): Show | a0001c0001t0071g0011 a0001c0001t0094g0010 a0001c0001t0140g0012 others(9): Show |
12 | 139 | 0.0863 | 5 | c.67+ others(22): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63861302 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0119a0001c0001t0126a0001c0002t0024others(4): Show | a0001c0001t0119g0041 a0001c0001t0126g0043 a0001c0002t0024g0044 others(4): Show |
7 | 134 | 0.0522 | 5 | c.67+ others(22): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63861303 | T | TATATA | intron_variant | MODIFIER | HG01243.hp1 HG03017.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0068a0002c0004t0090 | a0001c0001t0068g0163 a0002c0004t0090g0032 |
2 | 120 | 0.0167 | 5 | c.67+ others(22): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64000239 | G | GTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0122a0001c0002t0046 | a0001c0001t0122g0073 a0001c0002t0046g0120 |
2 | 60 | 0.0333 | 5 | c.426 others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64000275 | T | TGTGTA | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0148 | a0001c0001t0010g0157 a0001c0001t0148g0156 |
2 | 161 | 0.0124 | 5 | c.426 others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64012551 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0071a0001c0001t0085a0001c0002t0003others(9): Show | a0001c0001t0071g0011 a0001c0001t0085g0102 a0001c0002t0003g0009 others(9): Show |
12 | 82 | 0.1463 | 5 | c.427 others(22): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64082001 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0073others(56): Show | a0001c0001t0006g0115 a0001c0001t0006g0154 a0001c0001t0009g0143 others(57): Show |
60 | 65 | 0.9231 | 5 | c.140 others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64138446 | C | CTTTTT | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02922.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0134a0003c0005t0135a0003c0005t0136others(2): Show | a0003c0005t0134g0162 a0003c0005t0135g0013 a0003c0005t0136g0038 others(2): Show |
5 | 78 | 0.0641 | 5 | c.288 others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144884497 | T | TTTAAG | downstream_gene_variant | MODIFIER | HG01346.hp2 HG02615.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0013a0007c0007t0018 | a0001c0001t0013g0025 a0007c0007t0018g0001 |
2 | 54 | 0.0370 | 5 | c.*76 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2790 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121189096 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01167.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0107 a0001c0001t0001g0176 a0001c0001t0001g0177 others(26): Show |
29 | 97 | 0.2990 | 5 | c.67+ others(20): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249581 | T | TATATA | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0012 | a0001c0001t0001a0001c0001t0007a0001c0001t0042others(4): Show | a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 others(7): Show |
10 | 228 | 0.0439 | 5 | c.68- others(22): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206254179 | G | GTTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0013a0001c0003t0004a0001c0003t0016others(2): Show | a0001c0002t0013g0142 a0001c0003t0004g0118 a0001c0003t0004g0120 others(5): Show |
8 | 66 | 0.1212 | 5 | c.67+ others(22): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9036561 | C | CACAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp1 others(46): Show |
a0001a0002a0008 | a0001c0001a0001c0009a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0058 others(46): Show |
49 | 126 | 0.3889 | 5 | c.143 others(24): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 11/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9060428 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01070.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0059 others(37): Show |
40 | 96 | 0.4167 | 5 | c.673 others(18): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 5/21 | chr3 | TogoVar | |||||||
SRGN_chr10_69083103_69109805 | 69095911 | C | CAATAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 others(31): Show |
43 | 219 | 0.1963 | 5 | c.80- others(20): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SRGN_chr10_69083103_69109805 | 69097427 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0052 others(8): Show |
17 | 81 | 0.2099 | 5 | c.227 others(20): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SRGN_chr10_69083103_69109805 | 69106163 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(9): Show |
13 | 150 | 0.0867 | 5 | c.*20 others(16): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 1359 | chr10 | TogoVar | |||||||
SRI_chr7_88200115_88225038 | 88204789 | T | TTAAAC | downstream_gene_variant | MODIFIER | HG02056.hp2 NA19000.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0037 |
3 | 400 | 0.0075 | 5 | c.*16 others(16): Show |
SRI | ENSG00000075142.14 | transcript | ENST00000265729.7 | protein_coding | 325 | chr7 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4197083 | T | TGTGTG | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0045 a0001c0001t0010g0016 a0001c0001t0010g0056 others(3): Show |
6 | 181 | 0.0331 | 5 | c.376 others(20): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4197421 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02027.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0349 a0001c0001t0006g0008 a0001c0001t0006g0017 others(15): Show |
18 | 87 | 0.2069 | 5 | c.376 others(20): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4210486 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00733.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0029 others(30): Show |
34 | 38 | 0.8947 | 5 | c.62- others(20): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40037279 | G | GAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02615.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0005t0001g0023 |
6 | 74 | 0.0811 | 5 | c.211 others(20): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 35007806 | A | ATAACT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0260 a0001c0001t0002g0261 others(3): Show |
7 | 180 | 0.0389 | 5 | c.360 others(20): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 35007806 | A | ATATCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(211): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(203): Show |
214 | 387 | 0.5530 | 5 | c.360 others(20): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76041110 | G | GAACAA | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 others(7): Show |
10 | 364 | 0.0275 | 5 | c.152 others(22): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76070222 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG01978.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0002g0011 others(14): Show |
19 | 151 | 0.1258 | 5 | c.251 others(20): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 2/15 | chr17 | TogoVar | |||||||
SRP72_chr4_56462617_56508681 | 56475561 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(2): Show |
6 | 145 | 0.0414 | 5 | c.611 others(22): Show |
SRP72 | ENSG00000174780.17 | transcript | ENST00000642900.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRP9_chr1_225772826_225795464 | 225781395 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 NA18946.hp1 NA18952.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0066 a0001c0001t0003g0075 others(4): Show |
11 | 207 | 0.0531 | 5 | c.73- others(20): Show |
SRP9 | ENSG00000143742.14 | transcript | ENST00000304786.12 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRPK1_chr6_35827966_35926098 | 35832282 | A | ATTTAT | downstream_gene_variant | MODIFIER | HG03710.hp2 NA18944.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show |
4 | 338 | 0.0118 | 5 | c.*30 others(16): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 683 | chr6 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35892698 | C | CACAAA | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02055.hp2 others(5): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0004c0006t0005 | a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0238 others(5): Show |
8 | 244 | 0.0328 | 5 | c.75- others(20): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 2/15 | chr6 | TogoVar |