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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIMC1_chr5_176233424_176350989 | 176272172 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 NA18522.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 |
3 | 360 | 0.0083 | -12 | c.130 others(31): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176273650 | CCCCCTCA others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 NA18522.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 |
3 | 360 | 0.0083 | -12 | c.130 others(31): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176288419 | GAATGAAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00642.hp2 others(57): Show |
a0002a0004 | a0002c0002a0002c0003a0002c0014others(1): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(2): Show | a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 others(57): Show |
60 | 360 | 0.1667 | -12 | c.130 others(29): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176288423 | GAATAAAT others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0348 | 1 | 360 | 0.0028 | -12 | c.130 others(29): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176320331 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(188): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0010a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0030 others(188): Show |
191 | 360 | 0.5306 | -12 | c.189 others(31): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16832191 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 others(1): Show |
4 | 372 | 0.0108 | -12 | c.381 others(27): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16857512 | AAAATATG others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0334 | 1 | 372 | 0.0027 | -12 | c.105 others(31): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | chr19 | TogoVar | |||||||
SIN3B_chr19_16824398_16885349 | 16857517 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0061 | 1 | 372 | 0.0027 | -12 | c.105 others(31): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31283855 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 2 | 349 | 0.0057 | -12 | c.507 others(27): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31304148 | ATTTGCCA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0256 a0001c0001t0004g0030 a0001c0001t0004g0301 others(7): Show |
11 | 349 | 0.0315 | -12 | c.-20 others(29): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0045 | 1 | 174 | 0.0058 | -12 | c.-46 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71436095 | TGAACATA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(24): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 others(24): Show |
27 | 174 | 0.1552 | -12 | c.-46 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71446892 | CTGTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 others(4): Show |
7 | 174 | 0.0402 | -12 | c.-46 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71453996 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033 a0001c0002t0001g0125 |
2 | 174 | 0.0115 | -12 | c.-46 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71491761 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0151 a0001c0002t0005g0015 |
2 | 174 | 0.0115 | -12 | c.-46 others(33): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71510177 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 174 | 0.0058 | -12 | c.-46 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71534062 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 a0001c0001t0002g0063 |
2 | 174 | 0.0115 | -12 | c.-30 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590021 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01175.hp1 others(14): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 others(14): Show |
17 | 174 | 0.0977 | -12 | c.149 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590034 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02615.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0163 |
3 | 174 | 0.0172 | -12 | c.149 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590036 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0146 a0001c0001t0001g0171 a0001c0002t0003g0001 |
3 | 174 | 0.0172 | -12 | c.149 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71590042 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02922.hp2 HG04204.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0055 others(3): Show |
6 | 174 | 0.0345 | -12 | c.149 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71593188 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 174 | 0.0058 | -12 | c.149 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71609438 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG04204.hp1 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 others(2): Show |
5 | 174 | 0.0287 | -12 | c.149 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71627131 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0018 | a0004c0018t0002 | a0004c0018t0002g0003 | 1 | 174 | 0.0058 | -12 | c.181 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71671901 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02258.hp2 HG02738.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(2): Show |
5 | 174 | 0.0287 | -12 | c.282 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71700994 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(84): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0066 a0001c0001t0001g0069 others(84): Show |
87 | 174 | 0.5000 | -12 | c.352 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71701023 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 | 1 | 174 | 0.0058 | -12 | c.352 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 14/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71707123 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 174 | 0.0058 | -12 | c.376 others(31): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742367 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0075 a0001c0001t0001g0145 a0001c0001t0001g0148 others(4): Show |
7 | 174 | 0.0402 | -12 | c.*32 others(23): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1159 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232480142 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03139.hp2 others(1): Show |
a0002 | a0002c0006a0002c0008 | a0002c0006t0001a0002c0008t0004 | a0002c0006t0001g0202 a0002c0008t0004g0088 a0002c0008t0004g0090 others(1): Show |
4 | 292 | 0.0137 | -12 | c.198 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232480154 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02074.hp2 HG02572.hp1 |
a0001a0002 | a0001c0018a0002c0038a0002c0053 | a0001c0018t0001a0002c0038t0001a0002c0053t0008 | a0001c0018t0001g0134 a0002c0038t0001g0098 a0002c0053t0008g0272 |
3 | 292 | 0.0103 | -12 | c.198 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232525401 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0101 others(137): Show |
140 | 292 | 0.4795 | -12 | c.-26 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564234 | TCGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0003a0002c0008others(3): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0004others(4): Show | a0001c0001t0004g0209 a0001c0003t0001g0227 a0001c0003t0004g0135 others(4): Show |
7 | 292 | 0.0240 | -12 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564235 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01993.hp2 HG02083.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0002g0019 others(10): Show |
13 | 292 | 0.0445 | -12 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564270 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 292 | 0.0034 | -12 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572706 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0016others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(31): Show | a0001c0001t0001g0138 a0001c0001t0001g0183 a0001c0001t0001g0188 others(52): Show |
55 | 292 | 0.1884 | -12 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572769 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 a0001c0002t0001g0118 |
2 | 292 | 0.0069 | -12 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232595739 | CTTCCAAT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 HG02895.hp2 others(3): Show |
a0001a0008 | a0001c0002a0001c0003a0008c0014 | a0001c0002t0001a0001c0003t0001a0001c0003t0010others(1): Show | a0001c0002t0001g0106 a0001c0002t0001g0132 a0001c0002t0001g0133 others(3): Show |
6 | 292 | 0.0206 | -12 | c.-31 others(33): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37941075 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0025others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0006t0009others(4): Show | a0001c0001t0002g0139 a0001c0001t0005g0152 a0001c0006t0009g0140 others(6): Show |
9 | 164 | 0.0549 | -12 | c.-37 others(33): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37957554 | TTTTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0091 | 1 | 164 | 0.0061 | -12 | c.-37 others(33): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38065987 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0078 | 1 | 164 | 0.0061 | -12 | c.-31 others(33): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38071201 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00642.hp2 others(18): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0107 a0001c0001t0002g0099 a0001c0001t0002g0114 others(18): Show |
21 | 164 | 0.1281 | -12 | c.-31 others(32): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38078438 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA18979.hp1 |
a0002 | a0002c0014a0002c0015 | a0002c0014t0014a0002c0015t0004 | a0002c0014t0014g0035 a0002c0015t0004g0076 |
2 | 164 | 0.0122 | -12 | c.-31 others(31): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38078544 | ACACACAG others(5): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA19085.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0148 a0001c0003t0007g0153 |
2 | 164 | 0.0122 | -12 | c.-31 others(31): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38178086 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01361.hp1 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(16): Show |
19 | 164 | 0.1159 | -12 | c.420 others(31): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1_chr11_65633101_65655912 | 65636776 | ACCTCAGC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0005 a0002c0002t0002g0003 |
7 | 406 | 0.0172 | -12 | c.-14 others(23): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 1324 | chr11 | TogoVar | |||||||
SIRPA_chr20_1890407_1945592 | 1901163 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0029 | 1 | 418 | 0.0024 | -12 | c.79+ others(27): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1923978 | CTGGTTGG others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(132): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(124): Show |
135 | 418 | 0.3230 | -12 | c.108 others(29): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPD_chr20_1529251_1562705 | 1562594 | CCATAGTA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -12 | c.-49 others(23): Show |
SIRPD | ENSG00000125900.13 | transcript | ENST00000381623.4 | protein_coding | 4890 | chr20 | TogoVar | |||||||
SIRPG_chr20_1624152_1662779 | 1650002 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0020 | a0001c0020t0010 | a0001c0020t0010g0231 | 1 | 396 | 0.0025 | -12 | c.74- others(25): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 1/5 | chr20 | TogoVar |