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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHOX_chrX_625791_656584 | 636970 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0120 | 1 | 83 | 0.0120 | 21 | c.486 others(38): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHPK_chr17_3603240_3641250 | 3635240 | A | AGGAAGGA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01109.hp2 others(38): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0122 others(36): Show |
41 | 320 | 0.1281 | 21 | c.168 others(36): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(14): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 HG02523.hp2 others(5): Show |
a0001a0002a0022others(1): Show | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0150 a0001c0001t0012g0115 others(5): Show |
8 | 67 | 0.1194 | 21 | c.165 others(40): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9875080 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0019 | a0002c0019t0006 | a0002c0019t0006g0198 | 1 | 11 | 0.0909 | 21 | c.317 others(38): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9897680 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 HG03486.hp1 others(2): Show |
a0002a0004 | a0002c0006a0002c0035a0004c0016 | a0002c0006t0002a0002c0006t0003a0002c0006t0005others(2): Show | a0002c0006t0002g0149 a0002c0006t0003g0005 a0002c0006t0005g0017 others(2): Show |
5 | 36 | 0.1389 | 21 | c.279 others(38): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76735868 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0209 | 1 | 150 | 0.0067 | 21 | c.588 others(38): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618426 | T | TCCTTCCT others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02074.hp1 NA18994.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0073 others(2): Show |
5 | 169 | 0.0296 | 21 | c.295 others(40): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50801261 | G | GAGAGAGA others(14): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001 | a0001c0001t0007g0175 a0002c0002t0001g0152 |
2 | 54 | 0.0370 | 21 | c.117 others(40): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48380928 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01123.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 others(1): Show |
5 | 9 | 0.5556 | 21 | c.-3+ others(36): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0143 | 1 | 13 | 0.0769 | 21 | c.135 others(40): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113571512 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 |
a0001a0007 | a0001c0002a0007c0013 | a0001c0002t0001a0007c0013t0001 | a0001c0002t0001g0082 a0007c0013t0001g0083 |
2 | 316 | 0.0063 | 21 | c.515 others(38): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
SIGLEC10_chr19_51405020_51422642 | 51405400 | C | CTTTTCTT others(14): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0024 | a0024c0020 | a0024c0020t0006 | a0024c0020t0006g0067 | 1 | 171 | 0.0058 | 21 | c.*56 others(32): Show |
SIGLEC10 | ENSG00000142512.15 | transcript | ENST00000339313.10 | protein_coding | 4619 | chr19 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49947394 | A | AGCTGCAG others(14): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 NA18522.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0093 a0001c0001t0001g0095 |
3 | 450 | 0.0067 | 21 | c.*25 others(32): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 1590 | chr19 | TogoVar | |||||||
SIGLEC1_chr20_3681970_3717600 | 3690824 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0114 | 1 | 417 | 0.0024 | 21 | c.459 others(38): Show |
SIGLEC1 | ENSG00000088827.14 | transcript | ENST00000344754.6 | protein_coding | 18/21 | chr20 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01255.hp1 others(7): Show |
a0001a0002a0015others(1): Show | a0001c0002a0002c0003a0015c0023others(1): Show | a0001c0002t0002a0002c0003t0001a0015c0023t0002others(1): Show | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0008 others(7): Show |
10 | 140 | 0.0714 | 21 | c.*30 others(32): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917823 | G | GGAAGGAA others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01346.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0174 a0002c0004t0005g0178 a0002c0004t0005g0181 others(4): Show |
7 | 348 | 0.0201 | 21 | c.616 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917827 | G | GAAAGGAA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0305 a0001c0013t0001g0303 |
2 | 35 | 0.0571 | 21 | c.616 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116965758 | T | TGGTGAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(7): Show | a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 others(45): Show |
48 | 361 | 0.1330 | 21 | c.274 others(38): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013915 | G | GAGGGGGT others(14): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 82 | 0.0122 | 21 | c.274 others(40): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0221 | 1 | 30 | 0.0333 | 21 | c.274 others(40): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117023621 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0181 a0002c0004t0005g0182 |
2 | 200 | 0.0100 | 21 | c.274 others(40): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139057314 | T | TTAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0185 a0002c0003t0001g0160 |
2 | 101 | 0.0198 | 21 | c.245 others(38): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02080.hp2 HG03225.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0118 a0001c0001t0004g0066 a0001c0001t0004g0237 others(13): Show |
16 | 178 | 0.0899 | 21 | c.851 others(38): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71356567 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0061 |
2 | 30 | 0.0667 | 21 | c.-46 others(42): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71502255 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 39 | 0.0256 | 21 | c.-46 others(42): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742353 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 73 | 0.0137 | 21 | c.*31 others(32): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1145 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232631983 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG02896.hp1 HG03139.hp1 |
a0001a0005a0008 | a0001c0003a0005c0009a0008c0014 | a0001c0003t0010a0005c0009t0008a0008c0014t0013 | a0001c0003t0010g0282 a0005c0009t0008g0283 a0008c0014t0013g0279 |
3 | 109 | 0.0275 | 21 | c.-24 others(32): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1851 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37937741 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02148.hp1 HG02155.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0001g0112 a0001c0001t0004g0065 a0001c0001t0004g0104 others(9): Show |
12 | 55 | 0.2182 | 21 | c.-37 others(42): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIX5_chr19_45759785_45774252 | 45770204 | C | CCAGCAGC others(14): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 NA18979.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 2 | 7 | 0.2857 | 21 | c.-13 others(32): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48204973 | T | TTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0062 others(23): Show |
26 | 182 | 0.1429 | 21 | c.281 others(40): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48224053 | G | GAGGAGGA others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG01952.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 others(9): Show |
12 | 288 | 0.0417 | 21 | c.281 others(40): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0152 |
2 | 26 | 0.0769 | 21 | c.796 others(38): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95490399 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0015 | a0001c0015t0012 | a0001c0015t0012g0049 | 1 | 350 | 0.0029 | 21 | c.393 others(38): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 37/42 | chr5 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170357309 | T | TGCACCGC others(14): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0009 | a0009c0013 | a0009c0013t0066 | a0009c0013t0066g0136 | 1 | 360 | 0.0028 | 21 | c.-10 others(32): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 405 | chr3 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170365752 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18964.hp2 NA19081.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0045 | a0002c0002t0006g0316 a0002c0002t0006g0317 a0002c0002t0045g0266 |
3 | 49 | 0.0612 | 21 | c.109 others(40): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2227747 | T | TGGCCGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 a0002c0002t0002g0191 |
2 | 328 | 0.0061 | 21 | c.-10 others(32): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 571 | chr1 | TogoVar | |||||||
SKOR1_chr15_67820509_67839582 | 67831903 | C | CCGGGGGG others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 | 1 | 358 | 0.0028 | 21 | c.258 others(38): Show |
SKOR1 | ENSG00000188779.12 | transcript | ENST00000380035.3 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
SKOR2_chr18_47201169_47256660 | 47245478 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 a0001c0001t0003g0231 |
2 | 98 | 0.0204 | 21 | c.267 others(36): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48395810 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0215 | 1 | 37 | 0.0270 | 21 | c.136 others(42): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 155 | 0.0065 | 21 | c.*24 others(32): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0107 a0001c0001t0001g0221 a0001c0001t0003g0231 |
3 | 157 | 0.0191 | 21 | c.*24 others(32): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0233 a0001c0001t0003g0077 |
3 | 157 | 0.0191 | 21 | c.*24 others(32): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG03688.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0170 |
3 | 157 | 0.0191 | 21 | c.*24 others(32): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLC11A2_chr12_50980992_51031384 | 50993992 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0176 | 1 | 14 | 0.0714 | 21 | c.107 others(38): Show |
SLC11A2 | ENSG00000110911.17 | transcript | ENST00000262052.9 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48204650 | T | TTAATAGT others(14): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 264 | 0.0038 | 21 | c.-18 others(32): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 1651 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48294899 | T | TTTTATTT others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0150 a0001c0001t0009g0021 |
2 | 126 | 0.0159 | 21 | c.296 others(40): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126966 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0023 | a0001c0002t0017g0052 a0001c0002t0023g0035 |
2 | 75 | 0.0267 | 21 | c.104 others(40): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56878020 | G | GTCCCTCC others(14): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 139 | 0.0072 | 21 | c.109 others(36): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56878053 | T | TCTCTCCC others(14): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 418 | 0.0024 | 21 | c.109 others(36): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56887798 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02630.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0009 | a0001c0003t0003g0315 a0001c0008t0009g0356 |
2 | 334 | 0.0060 | 21 | c.217 others(38): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |