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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD4A_chr14_54562128_54798312 | 54724007 | T | TGGATGGA others(17): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 262 | 0.0038 | 24 | c.716 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54724048 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 262 | 0.0038 | 24 | c.716 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54739055 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 262 | 0.0038 | 24 | c.979 others(41): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75148346 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 324 | 0.0031 | 24 | c.-15 others(41): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36890396 | C | CCCTTTCT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01257.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0010a0001c0001t0025a0001c0001t0061others(1): Show | a0001c0001t0010g0160 a0001c0001t0010g0169 a0001c0001t0010g0192 others(10): Show |
13 | 340 | 0.0382 | 24 | c.*25 others(35): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 16/16 | 2535 | chr20 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36890396 | C | CTCTTTCT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01516.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0015a0001c0001t0017a0002c0006t0015 | a0001c0001t0015g0058 a0001c0001t0015g0112 a0001c0001t0015g0122 others(7): Show |
10 | 340 | 0.0294 | 24 | c.*25 others(35): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 16/16 | 2535 | chr20 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36947407 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02572.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(3): Show |
6 | 340 | 0.0177 | 24 | c.209 others(39): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 127947764 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 |
2 | 350 | 0.0057 | 24 | c.279 others(43): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128003957 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 350 | 0.0029 | 24 | c.870 others(41): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128018483 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0093 | 1 | 350 | 0.0029 | 24 | c.113 others(39): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
SAP25_chr7_100567228_100578900 | 100574632 | G | GCGCGCGC others(17): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | 24 | c.-89 others(33): Show |
SAP25 | ENSG00000205307.12 | transcript | ENST00000622764.3 | protein_coding | 733 | chr7 | TogoVar | |||||||
SAPCD2_chr9_137057127_137075557 | 137070668 | A | ATTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0039 | 1 | 414 | 0.0024 | 24 | c.-20 others(33): Show |
SAPCD2 | ENSG00000186193.9 | transcript | ENST00000409687.5 | protein_coding | 112 | chr9 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70149547 | A | ATTTTTTT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0109 | a0001c0001t0058g0149 a0001c0001t0058g0153 a0001c0001t0109g0152 |
3 | 420 | 0.0071 | 24 | c.*29 others(35): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 7/7 | 2928 | chr10 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668526 | T | TCCCCTCG others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02647.hp2 |
a0003a0004 | a0003c0009a0004c0023 | a0003c0009t0001a0004c0023t0002 | a0003c0009t0001g0157 a0004c0023t0002g0236 a0004c0023t0002g0237 |
3 | 262 | 0.0115 | 24 | c.249 others(43): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133726368 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00733.hp1 HG00738.hp1 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0011others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(28): Show | a0001c0001t0001g0171 a0001c0001t0002g0247 a0001c0007t0001g0175 others(42): Show |
45 | 262 | 0.1718 | 24 | c.915 others(41): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133726394 | A | ATAATAAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(12): Show | a0001c0001t0001a0001c0006t0002a0001c0007t0001others(13): Show | a0001c0001t0001g0132 a0001c0001t0001g0176 a0001c0001t0001g0178 others(20): Show |
23 | 262 | 0.0878 | 24 | c.915 others(41): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133726394 | A | ATAATAAT others(17): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 262 | 0.0038 | 24 | c.915 others(41): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109219262 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01952.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show |
11 | 402 | 0.0274 | 24 | c.137 others(41): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS1_chr1_109208918_109243182 | 109240289 | T | TGGCACCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0079 others(1): Show |
4 | 402 | 0.0100 | 24 | c.*24 others(35): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 2108 | chr1 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148340056 | T | TCAGGCTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0024 | a0001c0024t0010 | a0001c0024t0010g0114 | 1 | 322 | 0.0031 | 24 | c.-30 others(35): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2781 | chr6 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148368768 | G | GTGCGCAC others(17): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18960.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0254 a0002c0002t0002g0253 |
2 | 322 | 0.0062 | 24 | c.157 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148368770 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03579.hp2 |
a0002 | a0002c0002a0002c0035 | a0002c0002t0008a0002c0035t0011 | a0002c0002t0008g0154 a0002c0035t0011g0119 |
2 | 322 | 0.0062 | 24 | c.157 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387566 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02056.hp1 HG02155.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0004a0002c0002t0004a0002c0014t0001others(3): Show | a0001c0001t0004g0117 a0002c0002t0004g0200 a0002c0014t0001g0194 others(3): Show |
6 | 322 | 0.0186 | 24 | c.157 others(41): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387615 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 322 | 0.0031 | 24 | c.157 others(41): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148417582 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG02155.hp1 others(5): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0003t0012others(4): Show | a0001c0001t0002g0159 a0001c0001t0002g0212 a0001c0001t0008g0063 others(5): Show |
8 | 322 | 0.0248 | 24 | c.286 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148421146 | G | GAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 NA18954.hp1 |
a0002a0006a0011 | a0002c0002a0006c0022a0011c0039 | a0002c0002t0009a0006c0022t0002a0011c0039t0001 | a0002c0002t0009g0236 a0006c0022t0002g0025 a0011c0039t0001g0292 |
3 | 322 | 0.0093 | 24 | c.286 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148456873 | C | CAATAATA others(17): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02148.hp1 NA20300.hp1 |
a0002a0003a0005 | a0002c0002a0003c0006a0005c0026 | a0002c0002t0004a0003c0006t0002a0005c0026t0001 | a0002c0002t0004g0207 a0003c0006t0002g0065 a0005c0026t0001g0263 |
3 | 322 | 0.0093 | 24 | c.387 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789105 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG02056.hp1 others(7): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0167 a0001c0001t0001g0180 others(4): Show |
10 | 307 | 0.0326 | 24 | c.300 others(39): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129789109 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02615.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0154 a0001c0001t0004g0106 a0001c0001t0008g0054 others(1): Show |
4 | 307 | 0.0130 | 24 | c.300 others(39): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18344358 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0059 | a0001c0001t0039g0048 a0001c0001t0059g0044 |
2 | 352 | 0.0057 | 24 | c.*47 others(35): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088125 | C | CATATACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 NA18947.hp2 NA18964.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0219 a0002c0002t0003g0004 a0002c0002t0003g0010 others(2): Show |
5 | 232 | 0.0216 | 24 | c.*42 others(35): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4158 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088134 | T | TTATACAT others(17): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0230 | 1 | 232 | 0.0043 | 24 | c.*42 others(35): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4149 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088155 | C | CATATACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02647.hp1 others(3): Show |
a0002a0005a0008 | a0002c0002a0005c0005a0008c0013 | a0002c0002t0001a0005c0005t0002a0008c0013t0001 | a0002c0002t0001g0136 a0002c0002t0001g0140 a0005c0005t0002g0043 others(3): Show |
6 | 232 | 0.0259 | 24 | c.*42 others(35): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4128 | chrX | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19021819 | C | CACCAATC others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02602.hp1 HG02683.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0002a0003c0003t0003others(4): Show | a0001c0001t0003g0186 a0002c0002t0002g0080 a0003c0003t0003g0176 others(9): Show |
12 | 364 | 0.0330 | 24 | c.38+ others(41): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9994577 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 NA18906.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0003a0001c0012t0005a0002c0002t0001others(1): Show | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0040 others(5): Show |
8 | 224 | 0.0357 | 24 | c.976 others(39): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 9/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10063858 | C | CACACAGA others(17): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0026 | 1 | 224 | 0.0045 | 24 | c.142 others(43): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10063858 | C | CACAGAGA others(17): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0014 | 1 | 224 | 0.0045 | 24 | c.142 others(43): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 224 | 0.0045 | 24 | c.56- others(39): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123297400 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 260 | 0.0039 | 24 | c.403 others(41): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 31/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1157419 | C | CGCTCTCC others(17): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0099 | 1 | 203 | 0.0049 | 24 | c.-12 others(43): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1161261 | C | CCTGAGCA others(17): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 203 | 0.0049 | 24 | c.-12 others(43): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 450 | 0.0022 | 24 | c.*31 others(35): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73067589 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0015a0003c0003t0015 | a0002c0002t0015g0185 a0003c0003t0015g0107 |
2 | 414 | 0.0048 | 24 | c.678 others(39): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCAF11_chr12_45914131_45995574 | 45972897 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0281 | 1 | 344 | 0.0029 | 24 | c.-21 others(41): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02698.hp1 HG02897.hp2 |
a0001a0023a0025 | a0001c0002a0023c0033a0025c0041 | a0001c0002t0002a0023c0033t0002a0025c0041t0002 | a0001c0002t0002g0022 a0023c0033t0002g0022 a0025c0041t0002g0071 |
3 | 382 | 0.0079 | 24 | c.*15 others(35): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 NA18948.hp2 NA18967.hp2 others(1): Show |
a0001a0010 | a0001c0004a0010c0038 | a0001c0004t0002a0010c0038t0002 | a0001c0004t0002g0005 a0001c0004t0002g0006 a0010c0038t0002g0011 |
4 | 382 | 0.0105 | 24 | c.*15 others(35): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154784120 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 282 | 0.0036 | 24 | c.160 others(41): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154784155 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 282 | 0.0036 | 24 | c.160 others(41): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18942.hp1 NA18993.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0070 a0001c0001t0001g0108 a0001c0001t0001g0245 others(1): Show |
4 | 282 | 0.0142 | 24 | c.606 others(41): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 282 | 0.0036 | 24 | c.606 others(41): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |