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 | 402347 | C | CGCTCACA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02129.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0124 others(2): Show |
5 | 240 | 0.0208 | 7 | c.*35 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3368 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402396 | G | GGACCCCC | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02809.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0157 |
3 | 78 | 0.0385 | 7 | c.*34 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3319 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402398 | A | ACCCCCGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(8): Show |
16 | 86 | 0.1860 | 7 | c.*34 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3317 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402466 | G | GGACCCCC | downstream_gene_variant | MODIFIER | HG02129.hp1 HG02145.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0124 a0001c0001t0001g0126 others(1): Show |
4 | 199 | 0.0201 | 7 | c.*34 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3249 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 412205 | C | CGGTGGGG | intron_variant | MODIFIER | HG04228.hp1 NA19065.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0075 |
3 | 229 | 0.0131 | 7 | c.-15 others(26): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49965598 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01243.hp2 others(13): Show |
a0002a0004a0007others(2): Show | a0002c0002a0004c0004a0004c0008others(5): Show | a0002c0002t0001a0002c0002t0005a0004c0004t0001others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0131 a0002c0002t0005g0127 others(10): Show |
16 | 201 | 0.0796 | 7 | c.-45 others(18): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 4427 | chr19 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3712046 | A | AAGATACG | intron_variant | MODIFIER | NA18955.hp1 NA18957.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0194 |
3 | 426 | 0.0070 | 7 | c.-11 others(24): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51618443 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG02004.hp1 others(16): Show |
a0001a0014 | a0001c0004a0001c0005a0001c0008others(2): Show | a0001c0004t0001a0001c0005t0001a0001c0008t0001others(3): Show | a0001c0004t0001g0025 a0001c0004t0001g0077 a0001c0004t0001g0081 others(14): Show |
19 | 142 | 0.1338 | 7 | c.146 others(26): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 8/8 | chr19 | TogoVar | |||||||
SIGLEC6_chr19_51512819_51536670 | 51529001 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(50): Show |
208 | 340 | 0.6118 | 7 | c.101 others(24): Show |
SIGLEC6 | ENSG00000105492.16 | transcript | ENST00000425629.8 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111692350 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0001t0050others(2): Show | a0001c0001t0005g0130 a0001c0001t0011g0124 a0001c0001t0050g0153 others(2): Show |
5 | 11 | 0.4545 | 7 | c.478 others(24): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116855083 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG02257.hp1 others(6): Show |
a0001a0003 | a0001c0002a0003c0005a0003c0012 | a0001c0002t0004a0003c0005t0004a0003c0012t0004 | a0001c0002t0004g0190 a0001c0002t0004g0339 a0003c0005t0004g0027 others(6): Show |
9 | 129 | 0.0698 | 7 | c.365 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116947569 | A | ATGTATTT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0084 others(3): Show |
6 | 158 | 0.0380 | 7 | c.454 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116967003 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0003a0001c0002t0004a0002c0003t0001others(5): Show | a0001c0001t0003g0313 a0001c0002t0004g0045 a0001c0002t0004g0312 others(15): Show |
18 | 289 | 0.0623 | 7 | c.274 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117008464 | C | CAAAAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0070 a0001c0001t0001g0127 a0001c0001t0001g0128 others(135): Show |
138 | 364 | 0.3791 | 7 | c.274 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013972 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02622.hp1 others(21): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0001g0155 others(21): Show |
24 | 94 | 0.2553 | 7 | c.274 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0001g0269 others(3): Show |
6 | 35 | 0.1714 | 7 | c.274 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412555 | A | AAAGAAAG | intron_variant | MODIFIER | HG01074.hp2 HG02572.hp2 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0072 | a0001c0001t0004g0079 a0001c0001t0008g0047 a0001c0001t0008g0141 others(1): Show |
4 | 189 | 0.0212 | 7 | c.116 others(26): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100444111 | C | CATTTTCA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0067 a0001c0001t0002g0040 a0001c0001t0002g0052 others(97): Show |
100 | 318 | 0.3145 | 7 | c.998 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(13): Show | a0001c0001t0001g0196 a0001c0001t0007g0331 a0001c0001t0007g0332 others(38): Show |
41 | 203 | 0.2020 | 7 | c.851 others(24): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305136 | A | AGCGGGGG | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(53): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0033 others(53): Show |
56 | 138 | 0.4058 | 7 | c.173 others(26): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71365892 | A | ATTGTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(2): Show |
5 | 168 | 0.0298 | 7 | c.-46 others(28): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71365907 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(52): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 others(52): Show |
55 | 152 | 0.3618 | 7 | c.-46 others(28): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | chr14 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71417469 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01361.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0013 others(7): Show |
10 | 30 | 0.3333 | 7 | c.-46 others(28): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232455714 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01123.hp1 others(16): Show |
a0002a0005a0009 | a0002c0006a0002c0007a0002c0012others(6): Show | a0002c0006t0004a0002c0006t0007a0002c0006t0008others(12): Show | a0002c0006t0004g0096 a0002c0006t0007g0004 a0002c0006t0008g0262 others(16): Show |
19 | 160 | 0.1188 | 7 | c.309 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232501050 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(33): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0003a0001c0001t0010a0001c0002t0001others(24): Show | a0001c0001t0003g0254 a0001c0001t0010g0285 a0001c0002t0001g0084 others(33): Show |
36 | 89 | 0.4045 | 7 | c.148 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232563955 | T | TTTGTGTG | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0008 | a0001c0003t0006a0001c0005t0001a0002c0008t0006others(1): Show | a0001c0003t0006g0011 a0001c0003t0006g0012 a0001c0003t0006g0013 others(3): Show |
6 | 285 | 0.0211 | 7 | c.-27 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232631983 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(49): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0022 others(49): Show |
52 | 158 | 0.3291 | 7 | c.-24 others(18): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1851 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37963388 | G | GTGTGGCT | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0011 | a0001c0001t0001g0164 a0003c0005t0011g0163 |
2 | 162 | 0.0123 | 7 | c.-37 others(28): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | chr19 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38000900 | A | ATATATGT | intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 NA18906.hp1 others(1): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0005 | a0001c0004t0013a0002c0002t0020a0003c0005t0011 | a0001c0004t0013g0089 a0002c0002t0020g0038 a0003c0005t0011g0030 others(1): Show |
4 | 158 | 0.0253 | 7 | c.-37 others(28): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRT3_chr11_210030_241342 | 240101 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01358.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0047 a0001c0001t0001g0139 a0001c0001t0002g0001 others(16): Show |
42 | 117 | 0.3590 | 7 | c.-37 others(18): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 3760 | chr11 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48133240 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01978.hp2 HG02027.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0039 others(12): Show |
15 | 128 | 0.1172 | 7 | c.*58 others(16): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 201 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48158567 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0030 others(139): Show |
142 | 178 | 0.7978 | 7 | c.978 others(24): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 11/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG02135.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0167 a0001c0001t0003g0027 others(3): Show |
6 | 30 | 0.2000 | 7 | c.796 others(24): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26833397 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01255.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0002g0270 a0001c0001t0006g0223 a0001c0001t0006g0225 others(12): Show |
15 | 250 | 0.0600 | 7 | c.307 others(26): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26857310 | T | TAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02109.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0250 a0001c0001t0002g0280 a0001c0001t0004g0029 others(7): Show |
10 | 19 | 0.5263 | 7 | c.68- others(22): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95461277 | T | TGGTTGTA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(91): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0002c0002others(8): Show | a0001c0001t0004a0001c0015t0012a0002c0002t0002others(11): Show | a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 others(79): Show |
94 | 350 | 0.2686 | 7 | c.*33 others(18): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 2616 | chr5 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95539843 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0023others(6): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(10): Show | a0001c0001t0001g0066 a0001c0001t0001g0183 a0001c0001t0007g0047 others(62): Show |
76 | 315 | 0.2413 | 7 | c.543 others(22): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 8/42 | chr5 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170378553 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(207): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(199): Show |
210 | 296 | 0.7095 | 7 | c.109 others(26): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKP1_chr5_134143935_134181950 | 134163212 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01255.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0054 others(31): Show |
44 | 191 | 0.2304 | 7 | c.172 others(24): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
SKP1_chr5_134143935_134181950 | 134179976 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0019 others(45): Show |
57 | 153 | 0.3725 | 7 | c.-31 others(18): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3027 | chr5 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48395810 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02004.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0098 a0001c0001t0002g0236 a0001c0001t0002g0237 others(12): Show |
15 | 51 | 0.2941 | 7 | c.136 others(28): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF6_chr1_160480036_160528255 | 160484244 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0085 others(4): Show |
7 | 344 | 0.0203 | 7 | c.*24 others(18): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 791 | chr1 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133042678 | C | CCTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01099.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(30): Show |
36 | 102 | 0.3529 | 7 | c.484 others(24): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1690972 | C | CCTCCAGG | downstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0059 |
3 | 374 | 0.0080 | 7 | c.*26 others(18): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 1758 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146281396 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01346.hp1 HG01358.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0127 a0001c0001t0005g0032 a0001c0001t0005g0033 others(32): Show |
35 | 230 | 0.1522 | 7 | c.847 others(24): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 10/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146335250 | G | GAAAAAAA | intron_variant | MODIFIER | HG01358.hp2 NA18612.hp1 NA18953.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0004g0125 a0001c0001t0005g0100 a0001c0001t0005g0104 others(9): Show |
12 | 215 | 0.0558 | 7 | c.436 others(24): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218381490 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01257.hp1 NA18747.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0006 | a0001c0001t0001a0001c0001t0003a0002c0005t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0123 a0002c0005t0002g0008 others(3): Show |
7 | 16 | 0.4375 | 7 | c.-87 others(16): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 782 | chr2 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48289429 | A | ATATATAT | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG01928.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0130 others(15): Show |
18 | 187 | 0.0963 | 7 | c.287 others(24): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48301502 | T | TGCGGGGG | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01175.hp1 others(21): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0046 others(21): Show |
24 | 182 | 0.1319 | 7 | c.316 others(24): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126966 | A | ATATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0330 others(3): Show |
6 | 79 | 0.0759 | 7 | c.104 others(26): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |