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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAE1_chr19_47125835_47215636 | 47193836 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | NA18963.hp2 NA18965.hp1 NA18973.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0303 others(5): Show |
8 | 378 | 0.0212 | -9 | c.734 others(26): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47201360 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0099 others(79): Show |
82 | 114 | 0.7193 | -9 | c.879 others(26): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAFB_chr19_5618083_5673478 | 5660342 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02027.hp2 NA18943.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(4): Show |
7 | 81 | 0.0864 | -9 | c.186 others(28): Show |
SAFB | ENSG00000160633.13 | transcript | ENST00000588852.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAGSIN1_chr7_6324411_6353967 | 6351230 | TTAATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0190 others(7): Show |
10 | 261 | 0.0383 | -9 | c.-24 others(20): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 2264 | chr7 | TogoVar | |||||||
SAG_chr2_233302816_233352055 | 233315281 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(30): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0005others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0006t0001others(3): Show | a0001c0003t0001g0004 a0001c0003t0001g0079 a0001c0003t0001g0081 others(28): Show |
33 | 160 | 0.2063 | -9 | c.76- others(22): Show |
SAG | ENSG00000130561.17 | transcript | ENST00000409110.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118484747 | CTTGAGTG others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0028 a0001c0001t0003g0065 a0001c0001t0003g0125 others(1): Show |
4 | 186 | 0.0215 | -9 | c.193 others(28): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD13_chr1_84296708_84355798 | 84338432 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG01255.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0028 others(16): Show |
29 | 142 | 0.2042 | -9 | c.166 others(28): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD15_chr14_77372379_77397163 | 77372907 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0061 others(5): Show |
13 | 235 | 0.0553 | -9 | c.-45 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4471 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372943 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp2 NA19043.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0004 | a0002c0002t0002g0011 a0002c0004t0004g0017 |
3 | 309 | 0.0097 | -9 | c.-44 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4435 | chr14 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77372944 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01243.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003 | a0002c0002t0002g0040 a0003c0003t0003g0002 a0003c0003t0003g0010 others(3): Show |
6 | 306 | 0.0196 | -9 | c.-44 others(20): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 4434 | chr14 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154695 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03491.hp1 NA18970.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0084 a0001c0001t0001g0158 others(6): Show |
10 | 192 | 0.0521 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154711 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0195 others(4): Show |
7 | 324 | 0.0216 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130154713 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00642.hp1 others(65): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0001a0009c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0017 others(64): Show |
68 | 326 | 0.2086 | -9 | c.102 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130178147 | TGTATTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0114 a0001c0001t0001g0168 others(2): Show |
6 | 336 | 0.0179 | -9 | c.655 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130224592 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(88): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(84): Show |
91 | 220 | 0.4136 | -9 | c.-19 others(20): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 1642 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54623483 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0174 others(8): Show |
11 | 112 | 0.0982 | -9 | c.196 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54653301 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG01074.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0055 others(48): Show |
51 | 112 | 0.4554 | -9 | c.197 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4B_chr19_39337421_39390700 | 39339712 | CACACACA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 a0001c0001t0002g0158 |
2 | 214 | 0.0093 | -9 | c.-31 others(20): Show |
SAMD4B | ENSG00000179134.16 | transcript | ENST00000610417.5 | protein_coding | 2708 | chr19 | TogoVar | |||||||
SAMD5_chr6_147503690_147575021 | 147515176 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(119): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 others(114): Show |
122 | 234 | 0.5214 | -9 | c.459 others(26): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75148346 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18945.hp2 NA18955.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(5): Show |
8 | 71 | 0.1127 | -9 | c.-15 others(26): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75171160 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0003 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(4): Show |
7 | 171 | 0.0409 | -9 | c.792 others(26): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SANBR_chr2_61060871_61129280 | 61076142 | TGCCACCA others(2): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01192.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 others(2): Show |
5 | 344 | 0.0145 | -9 | c.432 others(24): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAP18_chr13_21135119_21154097 | 21137484 | TGCTGGCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02486.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010 | a0001c0002t0004g0009 a0001c0002t0004g0014 a0001c0002t0004g0077 others(2): Show |
14 | 424 | 0.0330 | -9 | c.-30 others(20): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 2634 | chr13 | TogoVar | |||||||
SAP18_chr13_21135119_21154097 | 21150909 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 others(16): Show |
77 | 108 | 0.7130 | -9 | c.*35 others(20): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 1813 | chr13 | TogoVar | |||||||
SAP25_chr7_100567228_100578900 | 100576584 | CAAAGGTA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0002 a0001c0003t0001g0009 a0001c0010t0001g0017 others(1): Show |
19 | 384 | 0.0495 | -9 | c.-28 others(20): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 2685 | chr7 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134598535 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0039 others(39): Show |
45 | 55 | 0.8182 | -9 | c.*84 others(20): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2613 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134612641 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01192.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0178 a0001c0002t0001g0080 a0001c0002t0001g0240 others(14): Show |
18 | 28 | 0.6429 | -9 | c.244 others(22): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668543 | CCCTCACC others(2): Show |
C | intron_variant | MODIFIER | NA19043.hp1 NA19085.hp1 NA19240.hp2 |
a0001a0003 | a0001c0027a0003c0032 | a0001c0027t0001a0003c0032t0001 | a0001c0027t0001g0103 a0003c0032t0001g0142 a0003c0032t0001g0155 |
3 | 260 | 0.0115 | -9 | c.249 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668631 | CCCTCACC others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
a0002a0003a0004 | a0002c0004a0003c0061a0004c0023 | a0002c0004t0001a0003c0061t0001a0004c0023t0003 | a0002c0004t0001g0011 a0002c0004t0001g0022 a0003c0061t0001g0223 others(1): Show |
4 | 260 | 0.0154 | -9 | c.249 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133673598 | TCTAAGTT others(2): Show |
T | intron_variant | MODIFIER | HG03942.hp2 HG04115.hp2 HG04228.hp2 |
a0003 | a0003c0035a0003c0049 | a0003c0035t0002a0003c0049t0002 | a0003c0035t0002g0041 a0003c0035t0002g0043 a0003c0049t0002g0169 |
3 | 260 | 0.0115 | -9 | c.216 others(28): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 17/20 | chr9 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109222001 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01070.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0025 others(13): Show |
17 | 400 | 0.0425 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109222002 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0028 others(19): Show |
25 | 367 | 0.0681 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109222004 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0270 a0001c0001t0001g0307 others(3): Show |
6 | 357 | 0.0168 | -9 | c.137 others(26): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SART3_chr12_108517214_108566173 | 108541998 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 HG01167.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0002others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0132 others(21): Show |
31 | 74 | 0.4189 | -9 | c.906 others(26): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 6/18 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148382114 | AATCAGCA others(2): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02055.hp2 HG02486.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0017a0001c0007t0006others(7): Show | a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0251 others(11): Show |
14 | 320 | 0.0438 | -9 | c.157 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148399214 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(22): Show | a0001c0001t0001g0050 a0001c0001t0002g0001 a0001c0001t0002g0142 others(33): Show |
36 | 179 | 0.2011 | -9 | c.285 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148467088 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0010others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0289 others(19): Show |
22 | 97 | 0.2268 | -9 | c.387 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02109.hp2 HG02683.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show |
15 | 40 | 0.3750 | -9 | c.-14 others(20): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18344358 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 others(97): Show |
106 | 168 | 0.6310 | -9 | c.*48 others(20): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199409649 | AGTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0080 a0001c0001t0002g0161 others(5): Show |
8 | 252 | 0.0317 | -9 | c.346 others(28): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85210397 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(34): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0001c0001t0004a0006c0010t0002 | a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0023 others(33): Show |
37 | 62 | 0.5968 | -9 | c.-31 others(30): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18977993 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA18990.hp1 NA18993.hp1 others(3): Show |
a0001a0003a0013 | a0001c0001a0003c0003a0013c0011 | a0001c0001t0003a0003c0003t0005a0013c0011t0005 | a0001c0001t0003g0185 a0003c0003t0005g0168 a0003c0003t0005g0169 others(3): Show |
6 | 72 | 0.0833 | -9 | c.39- others(26): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19010149 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(159): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0027others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(157): Show |
162 | 351 | 0.4615 | -9 | c.38+ others(26): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50474965 | CGCGGCGG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01884.hp1 others(45): Show |
a0001a0002a0013others(2): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0019a0001c0001t0159a0001c0002t0033others(27): Show | a0001c0001t0019g0012 a0001c0001t0019g0346 a0001c0001t0019g0347 others(43): Show |
48 | 123 | 0.3902 | -9 | c.-13 others(18): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 1/41 | 126 | chr22 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 9865563 | GCCTGTAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(68): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0040 others(68): Show |
71 | 222 | 0.3198 | -9 | c.193 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10182750 | GTTGTTGT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0203 others(8): Show |
11 | 222 | 0.0495 | -9 | c.141 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196857 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0185 a0001c0001t0005g0206 a0001c0001t0005g0207 |
3 | 217 | 0.0138 | -9 | c.56- others(24): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123294868 | GTAACAAC others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(26): Show |
a0001 | a0001c0005a0001c0008a0001c0012 | a0001c0005t0006a0001c0005t0012a0001c0005t0015others(10): Show | a0001c0005t0006g0103 a0001c0005t0006g0104 a0001c0005t0006g0105 others(26): Show |
29 | 258 | 0.1124 | -9 | c.*10 others(20): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 32/32 | 1031 | chr12 | TogoVar | ||||||
SBNO1_chr12_123284109_123369847 | 123357068 | GTGTGCAG others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03041.hp1 |
a0004 | a0004c0009 | a0004c0009t0014a0004c0009t0061a0004c0009t0074 | a0004c0009t0014g0081 a0004c0009t0061g0085 a0004c0009t0074g0086 |
3 | 258 | 0.0116 | -9 | c.1-6 others(22): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35522479 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0014 | a0001c0003t0001a0003c0014t0001 | a0001c0003t0001g0011 a0001c0003t0001g0031 a0001c0003t0001g0076 others(2): Show |
6 | 97 | 0.0619 | -9 | c.*10 others(20): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 887 | chr19 | TogoVar |