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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS2_chr4_7187538_7747827 | 7676824 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 |
a0001 | a0001c0014a0001c0033 | a0001c0014t0001a0001c0033t0062 | a0001c0014t0001g0040 a0001c0033t0062g0160 |
2 | 89 | 0.0225 | 22 | c.134 others(39): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104641249 | G | GCGCACAC others(15): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 134 | 0.0075 | 22 | c.-79 others(29): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 40 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104696006 | T | TATATAAT others(15): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0011 a0001c0002t0001g0075 |
2 | 133 | 0.0150 | 22 | c.627 others(41): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104735456 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03017.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0002g0025 |
2 | 14 | 0.1429 | 22 | c.627 others(41): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104735456 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03139.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0011 | a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0002t0011g0020 |
3 | 15 | 0.2000 | 22 | c.627 others(41): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104794622 | G | GGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0082 others(2): Show |
5 | 46 | 0.1087 | 22 | c.628 others(41): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104940238 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18943.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0004 | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0002t0001g0031 others(1): Show |
4 | 102 | 0.0392 | 22 | c.795 others(41): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105125679 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG03486.hp1 others(1): Show |
a0001a0006 | a0001c0002a0006c0011 | a0001c0002t0002a0001c0002t0003a0006c0011t0001 | a0001c0002t0002g0108 a0001c0002t0003g0006 a0001c0002t0003g0118 others(1): Show |
4 | 20 | 0.2000 | 22 | c.121 others(43): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORD_chr15_45018195_45082185 | 45069089 | A | AGGGGAGT others(15): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0003 | a0003c0003t0034 | a0003c0003t0034g0120 | 1 | 306 | 0.0033 | 22 | c.786 others(35): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121540522 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001a0002a0005 | a0001c0010a0001c0036a0001c0066others(3): Show | a0001c0010t0003a0001c0036t0003a0001c0066t0016others(3): Show | a0001c0010t0003g0257 a0001c0010t0003g0258 a0001c0036t0003g0266 others(4): Show |
7 | 32 | 0.2188 | 22 | c.168 others(41): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109351965 | G | GGGGTGTG others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0158 | 1 | 30 | 0.0333 | 22 | c.709 others(37): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 5/19 | chr1 | TogoVar | |||||||
SORT1_chr1_109304575_109402918 | 109376517 | G | GGATAAAG others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0038 | a0001c0005t0004g0158 a0001c0005t0004g0159 a0001c0005t0004g0179 others(1): Show |
4 | 238 | 0.0168 | 22 | c.307 others(39): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39038732 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01346.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0127 others(27): Show |
30 | 79 | 0.3797 | 22 | c.865 others(39): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50156257 | T | TGTACACA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0137 | 1 | 252 | 0.0040 | 22 | c.205 others(39): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 12/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50189331 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 others(20): Show |
23 | 69 | 0.3333 | 22 | c.511 others(37): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 4/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50209274 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02145.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0251 others(1): Show |
4 | 37 | 0.1081 | 22 | c.88- others(37): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132813036 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02615.hp1 NA20129.hp1 others(1): Show |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0001a0001c0003t0005a0005c0007t0005 | a0001c0003t0001g0000 a0001c0003t0005g0000 a0005c0007t0005g0000 |
4 | 331 | 0.0121 | 22 | c.-58 others(31): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 265 | chr5 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132813039 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 401 | 0.0050 | 22 | c.-58 others(31): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 262 | chr5 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132813040 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 349 | 0.0029 | 22 | c.-58 others(31): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 261 | chr5 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5688834 | T | TTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG02004.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0018a0001c0001t0075others(1): Show | a0001c0001t0003g0000 a0001c0001t0018g0000 a0001c0001t0075g0000 others(1): Show |
4 | 53 | 0.0755 | 22 | c.-38 others(33): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 3549 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5705396 | G | GGGGAGGC others(15): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01361.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0119others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0119g0000 others(3): Show |
6 | 169 | 0.0355 | 22 | c.*11 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4012 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706076 | A | AGGAGGCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG04115.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0165a0001c0001t0171 | a0001c0001t0033g0000 a0001c0001t0165g0000 a0001c0001t0171g0000 |
4 | 416 | 0.0096 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4692 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706125 | G | GCTGGGGT others(15): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0055a0001c0001t0058others(4): Show | a0001c0001t0010g0000 a0001c0001t0055g0000 a0001c0001t0058g0000 others(4): Show |
8 | 430 | 0.0186 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4741 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706161 | G | GCAGGGAG others(15): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 1 | 430 | 0.0023 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4777 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706280 | G | GCTGGGGT others(15): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 361 | 0.0028 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4896 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706296 | A | AGGGAGGC others(15): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0000 | 1 | 416 | 0.0024 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4912 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706310 | A | AGAGGAGC others(15): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0000 | 1 | 217 | 0.0046 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4926 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706340 | A | AGGGAGAC others(15): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 347 | 0.0029 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4956 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706346 | G | GCTGGGGT others(15): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 302 | 0.0033 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4962 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706384 | T | TGGGAGGC others(15): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 279 | 0.0036 | 22 | c.*12 others(35): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 5000 | chr2 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64045019 | T | TGGGGCGG others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
53 | 350 | 0.1514 | 22 | c.*31 others(33): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 2562 | chr20 | TogoVar | |||||||
SOX30_chr5_157620679_157657438 | 157631051 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 367 | 0.0027 | 22 | c.188 others(41): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23530798 | A | AGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0022a0001c0001t0033others(11): Show | a0001c0001t0012g0109 a0001c0001t0012g0111 a0001c0001t0012g0116 others(16): Show |
19 | 96 | 0.1979 | 22 | c.*34 others(33): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3420 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0178 | 1 | 153 | 0.0065 | 22 | c.*34 others(33): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01517.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0082 | a0001c0001t0055g0135 a0001c0001t0082g0002 |
2 | 154 | 0.0130 | 22 | c.*34 others(33): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23578117 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0085 | a0001c0001t0017g0042 a0001c0001t0085g0029 |
2 | 13 | 0.1538 | 22 | c.116 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23600522 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01433.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0182 a0001c0001t0002g0170 a0001c0001t0012g0116 others(1): Show |
4 | 40 | 0.1000 | 22 | c.116 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23674336 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0001 | 1 | 5 | 0.2000 | 22 | c.811 others(39): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23704687 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0140 | 1 | 52 | 0.0192 | 22 | c.810 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23704715 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0133 | 1 | 142 | 0.0070 | 22 | c.810 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23704715 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0052 | 1 | 142 | 0.0070 | 22 | c.810 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23831957 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 2 | 0.5000 | 22 | c.481 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23872164 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0095a0001c0001t0110 | a0001c0001t0009g0057 a0001c0001t0095g0079 a0001c0001t0110g0056 |
3 | 88 | 0.0341 | 22 | c.270 others(41): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 15979042 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03139.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0038 | a0001c0001t0004g0191 a0001c0002t0001g0072 a0001c0002t0038g0170 |
3 | 58 | 0.0517 | 22 | c.218 others(41): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16283089 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0168 a0001c0001t0001g0172 others(4): Show |
7 | 17 | 0.4118 | 22 | c.445 others(41): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230436927 | A | AGTGTATA others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0173 a0001c0001t0008g0172 |
2 | 245 | 0.0082 | 22 | c.108 others(39): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230436943 | C | CATATATG others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02965.hp2 others(4): Show |
a0001a0002a0009 | a0001c0003a0002c0002a0009c0018 | a0001c0003t0005a0001c0003t0012a0002c0002t0001others(1): Show | a0001c0003t0005g0047 a0001c0003t0012g0042 a0001c0003t0012g0045 others(4): Show |
7 | 283 | 0.0247 | 22 | c.108 others(39): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230546455 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 a0001c0001t0005g0124 |
2 | 266 | 0.0075 | 22 | c.*35 others(33): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 850 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230206595 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18977.hp1 NA19065.hp1 |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0002a0013c0016t0020 | a0001c0001t0002g0070 a0001c0001t0002g0073 a0013c0016t0020g0188 |
3 | 38 | 0.0789 | 22 | c.898 others(39): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230259771 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01358.hp2 HG02970.hp2 |
a0001a0003a0007 | a0001c0006a0003c0004a0007c0012 | a0001c0006t0001a0003c0004t0003a0007c0012t0001 | a0001c0006t0001g0039 a0003c0004t0003g0031 a0007c0012t0001g0025 |
3 | 170 | 0.0176 | 22 | c.124 others(41): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |