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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGIRR_chr11_400716_419999 | 415207 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01256.hp1 others(20): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0009 | a0001c0001t0001a0001c0004t0001a0005c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0044 others(17): Show |
23 | 242 | 0.0950 | -12 | c.-55 others(21): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 209 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 415239 | TGTGTGTG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 NA19043.hp2 |
a0001a0003 | a0001c0006a0003c0015 | a0001c0006t0001a0003c0015t0001 | a0001c0006t0001g0226 a0003c0015t0001g0225 |
2 | 242 | 0.0083 | -12 | c.-58 others(21): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 241 | chr11 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49945846 | TCCCTCCC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(208): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0007others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(79): Show |
211 | 452 | 0.4668 | -12 | c.*41 others(23): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 3138 | chr19 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51495343 | GGATGGAT others(5): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0052 | a0003c0052t0002 | a0003c0052t0002g0170 | 1 | 432 | 0.0023 | -12 | c.159 others(31): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
SIGLEC15_chr18_45820675_45849094 | 45825176 | AAGAGAGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 414 | 0.0024 | -12 | c.-55 others(21): Show |
SIGLEC15 | ENSG00000197046.12 | transcript | ENST00000389474.8 | protein_coding | 498 | chr18 | TogoVar | |||||||
SIGLEC15_chr18_45820675_45849094 | 45825188 | GAGAGAGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show |
7 | 414 | 0.0169 | -12 | c.-54 others(21): Show |
SIGLEC15 | ENSG00000197046.12 | transcript | ENST00000389474.8 | protein_coding | 486 | chr18 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3694174 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02647.hp2 others(10): Show |
a0008a0010a0023 | a0008c0013a0010c0019a0010c0069others(2): Show | a0008c0013t0007a0008c0013t0025a0010c0019t0003others(3): Show | a0008c0013t0007g0045 a0008c0013t0007g0324 a0008c0013t0007g0325 others(8): Show |
13 | 428 | 0.0304 | -12 | c.325 others(27): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 13/21 | chr20 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3700106 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp1 |
a0003a0005 | a0003c0018a0005c0077 | a0003c0018t0006a0005c0077t0003 | a0003c0018t0006g0057 a0005c0077t0003g0052 |
2 | 428 | 0.0047 | -12 | c.152 others(29): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 7/21 | chr20 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51628849 | GTGTGCGT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(83): Show |
a0001a0002a0005others(4): Show | a0001c0022a0002c0002a0005c0024others(4): Show | a0001c0022t0001a0002c0002t0001a0002c0002t0022others(5): Show | a0001c0022t0001g0025 a0001c0022t0001g0170 a0002c0002t0001g0001 others(57): Show |
86 | 414 | 0.2077 | -12 | c.739 others(27): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 4/8 | chr19 | TogoVar | |||||||
SIGLEC7_chr19_51137301_51158526 | 51138839 | CGAATGAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 404 | 0.0025 | -12 | c.-35 others(23): Show |
SIGLEC7 | ENSG00000168995.13 | transcript | ENST00000317643.10 | protein_coding | 3461 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459504 | AGATGATG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | -12 | c.-11 others(23): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1051 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459529 | GATGATGA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp1 NA18990.hp1 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0012 | a0002c0002t0007g0041 a0002c0002t0012g0053 |
2 | 452 | 0.0044 | -12 | c.-11 others(23): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1076 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459532 | GATGATTA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 HG03209.hp1 NA18959.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0015 | a0001c0001t0001g0001 a0002c0002t0015g0043 |
6 | 452 | 0.0133 | -12 | c.-11 others(23): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1079 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51459535 | GATTATTA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00639.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0002c0002t0001g0017 others(9): Show |
45 | 452 | 0.0996 | -12 | c.-11 others(23): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 1082 | chr19 | TogoVar | |||||||
SIGLEC8_chr19_51445997_51463454 | 51461094 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02486.hp1 HG02723.hp1 others(2): Show |
a0001a0002a0003 | a0001c0010a0002c0002a0003c0003 | a0001c0010t0003a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0010t0003g0082 a0002c0002t0003g0026 a0002c0002t0004g0054 others(1): Show |
5 | 452 | 0.0111 | -12 | c.-27 others(23): Show |
SIGLEC8 | ENSG00000105366.15 | transcript | ENST00000321424.7 | protein_coding | 2641 | chr19 | TogoVar | |||||||
SIGLECL1_chr19_51246080_51274330 | 51251589 | ATGAGTCA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0012a0002c0004t0002 | a0001c0001t0002g0048 a0001c0001t0012g0047 a0002c0004t0002g0024 |
4 | 396 | 0.0101 | -12 | c.-19 others(27): Show |
SIGLECL1 | ENSG00000179213.14 | transcript | ENST00000601727.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIGMAR1_chr9_34629722_34642787 | 34639547 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 | 6 | 438 | 0.0137 | -12 | c.-18 others(23): Show |
SIGMAR1 | ENSG00000147955.18 | transcript | ENST00000277010.9 | protein_coding | 1761 | chr9 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111612915 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(94): Show |
97 | 198 | 0.4899 | -12 | c.136 others(29): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111628416 | ATCTTTCT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(14): Show | a0001c0001t0002g0180 a0001c0001t0003g0125 a0001c0001t0003g0159 others(39): Show |
42 | 198 | 0.2121 | -12 | c.316 others(29): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111658090 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0093 a0001c0001t0002g0020 others(12): Show |
15 | 198 | 0.0758 | -12 | c.317 others(31): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111666943 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(122): Show |
125 | 198 | 0.6313 | -12 | c.317 others(31): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111717317 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0195 | 1 | 198 | 0.0051 | -12 | c.126 others(31): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116844623 | ATATATAA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0276 | 1 | 366 | 0.0027 | -12 | c.*10 others(23): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 25/25 | 1761 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116855083 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0016 | 1 | 366 | 0.0027 | -12 | c.365 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116915124 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 366 | 0.0027 | -12 | c.616 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116922907 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18995.hp2 NA19010.hp2 NA19074.hp2 |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0001a0012c0016t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0012c0016t0001g0222 |
3 | 366 | 0.0082 | -12 | c.616 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116947523 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01257.hp1 others(16): Show |
a0001a0002a0010 | a0001c0001a0002c0004a0010c0021 | a0001c0001t0001a0002c0004t0006a0002c0004t0014others(1): Show | a0001c0001t0001g0164 a0002c0004t0006g0017 a0002c0004t0006g0152 others(16): Show |
19 | 366 | 0.0519 | -12 | c.454 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116951940 | GAATAAAT others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02148.hp2 HG02257.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0012 | a0001c0001t0002a0001c0001t0011a0003c0005t0005others(1): Show | a0001c0001t0002g0098 a0001c0001t0011g0034 a0001c0001t0011g0035 others(8): Show |
11 | 366 | 0.0301 | -12 | c.454 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965734 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA18978.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0259 a0001c0001t0001g0262 |
3 | 366 | 0.0082 | -12 | c.274 others(29): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116996819 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01074.hp2 others(43): Show |
a0001a0016a0017 | a0001c0001a0016c0015a0017c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0047 a0001c0001t0002g0104 a0001c0001t0002g0105 others(43): Show |
46 | 366 | 0.1257 | -12 | c.274 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117016394 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02258.hp1 others(1): Show |
a0001a0002a0006 | a0001c0001a0001c0013a0002c0003others(1): Show | a0001c0001t0024a0001c0013t0002a0002c0003t0009others(1): Show | a0001c0001t0024g0276 a0001c0013t0002g0280 a0002c0003t0009g0324 others(1): Show |
4 | 366 | 0.0109 | -12 | c.274 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 366 | 0.0027 | -12 | c.274 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117056536 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(51): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(12): Show | a0001c0001t0001g0014 a0001c0001t0001g0092 a0001c0001t0001g0180 others(51): Show |
54 | 366 | 0.1475 | -12 | c.273 others(31): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIKE1_chr1_114764479_114785685 | 114765216 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01099.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0065 others(5): Show |
12 | 358 | 0.0335 | -12 | c.*90 others(23): Show |
SIKE1 | ENSG00000052723.12 | transcript | ENST00000060969.6 | protein_coding | 4262 | chr1 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139055589 | ACTCTCCC others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(48): Show |
a0001a0009 | a0001c0001a0001c0010a0009c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0035 others(48): Show |
51 | 200 | 0.2550 | -12 | c.245 others(29): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139143306 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02071.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 others(24): Show |
27 | 200 | 0.1350 | -12 | c.-10 others(31): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139143334 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02109.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(13): Show |
16 | 200 | 0.0800 | -12 | c.-10 others(31): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139145629 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0012 | a0001c0001t0001a0001c0002t0001a0005c0012t0001 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(15): Show |
18 | 200 | 0.0900 | -12 | c.-10 others(31): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139160143 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 200 | 0.0050 | -12 | c.-10 others(31): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139192997 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(58): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(58): Show |
61 | 200 | 0.3050 | -12 | c.-11 others(29): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100385669 | ATGTGTGT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02717.hp1 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0070a0001c0001t0073others(1): Show | a0001c0001t0061g0302 a0001c0001t0070g0177 a0001c0001t0073g0115 others(1): Show |
4 | 320 | 0.0125 | -12 | c.*46 others(23): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 12/12 | 4680 | chr6 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100406714 | TTGTATAC others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0069 | a0001c0001t0025g0256 a0001c0001t0025g0263 a0001c0001t0069g0264 |
3 | 320 | 0.0094 | -12 | c.116 others(33): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412555 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0002g0043 a0001c0001t0002g0064 a0001c0001t0002g0138 others(10): Show |
13 | 320 | 0.0406 | -12 | c.116 others(31): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412671 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 320 | 0.0031 | -12 | c.116 others(31): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412683 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02132.hp2 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0097 a0001c0001t0002g0148 a0001c0001t0003g0158 others(8): Show |
11 | 320 | 0.0344 | -12 | c.116 others(31): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450694 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 320 | 0.0031 | -12 | c.259 others(27): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458006 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01106.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0217 a0001c0001t0002g0260 a0001c0001t0002g0261 others(24): Show |
27 | 320 | 0.0844 | -12 | c.176 others(29): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36740009 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0067 others(32): Show |
36 | 410 | 0.0878 | -12 | c.851 others(29): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176238357 | GCGGGGCG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 360 | 0.0028 | -12 | c.-15 others(21): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 66 | chr5 | TogoVar | |||||||
SIMC1_chr5_176233424_176350989 | 176246407 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG03942.hp1 NA18971.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0240 a0002c0002t0002g0338 |
2 | 360 | 0.0056 | -12 | c.129 others(29): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |