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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIK3_chr11_116838402_117103428 | 117017423 | ATTTTATT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 364 | 0.0027 | -13 | c.274 others(32): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03490.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0248 |
2 | 31 | 0.0645 | -13 | c.274 others(32): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIKE1_chr1_114764479_114785685 | 114765216 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00673.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(15): Show |
47 | 88 | 0.5341 | -13 | c.*90 others(24): Show |
SIKE1 | ENSG00000052723.12 | transcript | ENST00000060969.6 | protein_coding | 4262 | chr1 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412542 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01256.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0026 a0001c0001t0005g0070 a0001c0001t0005g0093 others(7): Show |
10 | 318 | 0.0314 | -13 | c.116 others(32): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412610 | AGGAAAGA others(6): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02523.hp1 NA18522.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0002c0002t0001 | a0001c0001t0022g0149 a0002c0002t0001g0031 a0002c0002t0001g0085 others(4): Show |
7 | 309 | 0.0227 | -13 | c.116 others(32): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412624 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0186 a0001c0001t0005g0196 |
2 | 318 | 0.0063 | -13 | c.116 others(32): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458005 | TTTCTCTC others(6): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0044 | a0001c0001t0003g0002 a0001c0001t0044g0150 |
2 | 310 | 0.0065 | -13 | c.176 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458007 | TCTCTCTC others(6): Show |
T | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 317 | 0.0032 | -13 | c.176 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458011 | TCTCTCTC others(6): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0286 | 1 | 315 | 0.0032 | -13 | c.176 others(30): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIN3A_chr15_75364379_75456690 | 75442120 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0009 | 1 | 51 | 0.0196 | -13 | c.-34 others(30): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
SIN3B_chr19_16824398_16885349 | 16832191 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(130): Show |
a0001a0004a0010 | a0001c0001a0004c0017a0010c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 others(117): Show |
133 | 273 | 0.4872 | -13 | c.381 others(28): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16870964 | TACAGGCA others(6): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA18950.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0021 a0001c0001t0004g0216 a0001c0001t0004g0254 others(1): Show |
5 | 370 | 0.0135 | -13 | c.242 others(30): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71446894 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 others(27): Show |
30 | 119 | 0.2521 | -13 | c.-46 others(34): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71453996 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00642.hp1 others(24): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(24): Show |
27 | 44 | 0.6136 | -13 | c.-46 others(34): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590039 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 172 | 0.0058 | -13 | c.149 others(30): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590041 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0052 a0001c0001t0002g0053 a0001c0004t0002g0049 others(1): Show |
4 | 172 | 0.0233 | -13 | c.149 others(30): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590043 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0068 |
3 | 168 | 0.0179 | -13 | c.149 others(30): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71592047 | CTGGCAGG others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(27): Show |
a0001 | a0001c0001a0001c0009a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 others(27): Show |
30 | 172 | 0.1744 | -13 | c.149 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71627131 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0005 | a0001c0001t0001g0145 a0001c0001t0002g0004 a0001c0002t0005g0015 |
3 | 15 | 0.2000 | -13 | c.181 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71701022 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0067 | 1 | 172 | 0.0058 | -13 | c.352 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 14/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71742366 | AAAAAAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0154 a0001c0002t0003g0002 |
2 | 172 | 0.0116 | -13 | c.*32 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1158 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232424322 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA20300.hp2 |
a0002 | a0002c0031 | a0002c0031t0001a0002c0031t0017 | a0002c0031t0001g0078 a0002c0031t0017g0098 |
2 | 80 | 0.0250 | -13 | c.463 others(32): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564147 | TTCGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01109.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0002g0019 others(32): Show |
35 | 205 | 0.1707 | -13 | c.-27 others(34): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564233 | TTCGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02257.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0023a0001c0003t0005a0001c0003t0006others(8): Show | a0001c0001t0023g0280 a0001c0003t0005g0035 a0001c0003t0006g0011 others(10): Show |
13 | 275 | 0.0473 | -13 | c.-27 others(32): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37916493 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0021 | a0021c0023 | a0021c0023t0002 | a0021c0023t0002g0019 | 1 | 141 | 0.0071 | -13 | c.-37 others(32): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37997864 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0094 | 1 | 142 | 0.0070 | -13 | c.-37 others(34): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1901163 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 207 | 0.0048 | -13 | c.79+ others(28): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1923009 | CATCTCCC others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(94): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0087 a0001c0001t0001g0182 a0001c0001t0001g0213 others(91): Show |
97 | 416 | 0.2332 | -13 | c.108 others(30): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 4/7 | chr20 | TogoVar | |||||||
SIRPA_chr20_1890407_1945592 | 1937101 | AAGACCCT others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02300.hp1 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0009 | a0001c0001t0007g0188 a0002c0002t0009g0176 a0002c0002t0009g0239 |
3 | 416 | 0.0072 | -13 | c.126 others(30): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRT4_chr12_120297321_120318249 | 120304825 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 363 | 0.0028 | -13 | c.497 others(28): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13578658 | CTGCTTTA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(92): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(19): Show | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0011 others(64): Show |
95 | 392 | 0.2423 | -13 | c.-19 others(30): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIVA1_chr14_104748147_104764654 | 104762648 | AGGCCGGG others(6): Show |
A | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 416 | 0.0024 | -13 | c.*31 others(24): Show |
SIVA1 | ENSG00000184990.13 | transcript | ENST00000329967.11 | protein_coding | 2995 | chr14 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45760935 | AAAAGAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(76): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0010g0020 others(6): Show |
79 | 412 | 0.1917 | -13 | c.*45 others(24): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 3849 | chr19 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165073169 | TTTCTCTC others(6): Show |
T | intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 261 | 0.0038 | -13 | c.255 others(30): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 3/47 | chr3 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59135310 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 136 | 0.0074 | -13 | c.34- others(28): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48405437 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278 | 1 | 290 | 0.0034 | -13 | c.47- others(28): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 25 | 0.0400 | -13 | c.796 others(30): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95477176 | AAATAGTG others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 others(3): Show |
6 | 350 | 0.0171 | -13 | c.436 others(32): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 40/42 | chr5 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95492652 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0272 |
2 | 262 | 0.0076 | -13 | c.380 others(32): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 36/42 | chr5 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170364311 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0267 | 1 | 17 | 0.0588 | -13 | c.109 others(32): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170377542 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0212 a0002c0002t0019g0276 a0002c0002t0019g0279 |
3 | 311 | 0.0096 | -13 | c.109 others(32): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKP1_chr5_134143935_134181950 | 134164322 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(174): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(132): Show |
177 | 267 | 0.6629 | -13 | c.171 others(30): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77721240 | TGCCACCA others(6): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 298 | 0.0034 | -13 | c.766 others(30): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48390078 | CTTTTTCT others(6): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 |
2 | 346 | 0.0058 | -13 | c.136 others(32): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48405359 | CCTTTTTG others(6): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 346 | 0.0029 | -13 | c.136 others(34): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF6_chr1_160480036_160528255 | 160483769 | AACTCGGG others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 392 | 0.0026 | -13 | c.*29 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 1266 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484228 | TATATATA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 392 | 0.0026 | -13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 807 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160507556 | AAAACACT others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 392 | 0.0026 | -13 | c.50- others(30): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133070014 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0290 others(35): Show |
39 | 342 | 0.1140 | -13 | c.-41 others(30): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLC10A1_chr14_69770416_69802241 | 69777593 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 338 | 0.0030 | -13 | c.943 others(28): Show |
SLC10A1 | ENSG00000100652.5 | transcript | ENST00000216540.5 | protein_coding | 4/4 | chr14 | TogoVar |