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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STRIT1_chr3_155285227_155298683 | 155298078 | A | AAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02273.hp2 NA18747.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011 | a0001c0001t0003g0003 a0001c0001t0008g0043 a0001c0001t0011g0014 |
11 | 444 | 0.0248 | 20 | c.-44 others(31): Show |
STRIT1 | ENSG00000240045.2 | transcript | ENST00000489090.2 | protein_coding | 4396 | chr3 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30895053 | C | CAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0213 | 1 | 364 | 0.0028 | 20 | c.*33 others(29): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 18/18 | 357 | chr14 | TogoVar | ||||||
STRN3_chr14_30888804_31031379 | 30921069 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0322 a0001c0001t0003g0347 a0001c0001t0005g0329 |
3 | 364 | 0.0082 | 20 | c.110 others(39): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 8/17 | chr14 | TogoVar | |||||||
STRN3_chr14_30888804_31031379 | 30929954 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0073 | 1 | 364 | 0.0028 | 20 | c.989 others(35): Show |
STRN3 | ENSG00000196792.12 | transcript | ENST00000357479.10 | protein_coding | 7/17 | chr14 | TogoVar | |||||||
STRN4_chr19_46714511_46751450 | 46723793 | T | TCTGGCCT others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0056 | 1 | 402 | 0.0025 | 20 | c.159 others(37): Show |
STRN4 | ENSG00000090372.15 | transcript | ENST00000263280.11 | protein_coding | 12/17 | chr19 | TogoVar | |||||||
STRN4_chr19_46714511_46751450 | 46724249 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0203 | 1 | 402 | 0.0025 | 20 | c.159 others(37): Show |
STRN4 | ENSG00000090372.15 | transcript | ENST00000263280.11 | protein_coding | 12/17 | chr19 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36846387 | T | TTATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0145 | a0001c0001t0145g0275 | 1 | 302 | 0.0033 | 20 | c.*30 others(31): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 18/18 | 3068 | chr2 | TogoVar | ||||||
STRN_chr2_36832698_36971536 | 36906463 | C | CAATGAAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0138 | a0001c0001t0014g0036 a0001c0001t0138g0042 |
2 | 302 | 0.0066 | 20 | c.413 others(35): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36948081 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0292 | 1 | 302 | 0.0033 | 20 | c.234 others(39): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36966898 | A | AACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG03453.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0078a0001c0001t0085 | a0001c0001t0050g0294 a0001c0001t0050g0296 a0001c0001t0078g0252 others(1): Show |
4 | 302 | 0.0133 | 20 | c.-43 others(29): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 363 | chr2 | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7215050 | T | TACGTATA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 231 | 0.0043 | 20 | c.-5+ others(37): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STUB1_chr16_675410_687801 | 683719 | C | CCGGACCA others(13): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 356 | 0.0056 | 20 | c.*12 others(31): Show |
STUB1 | ENSG00000103266.11 | transcript | ENST00000219548.9 | protein_coding | 919 | chr16 | TogoVar | |||||||
STX17_chr9_99901654_99979534 | 99904413 | A | ATTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 294 | 0.0034 | 20 | c.-23 others(31): Show |
STX17 | ENSG00000136874.11 | transcript | ENST00000259400.11 | protein_coding | 2240 | chr9 | TogoVar | |||||||
STX18_chr4_4413968_4547048 | 4527865 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 246 | 0.0041 | 20 | c.168 others(39): Show |
STX18 | ENSG00000168818.10 | transcript | ENST00000306200.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
STX19_chr3_94009365_94033597 | 94029301 | C | CATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 392 | 0.0026 | 20 | c.-96 others(29): Show |
STX19 | ENSG00000178750.3 | transcript | ENST00000315099.3 | protein_coding | 705 | chr3 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0289 | 1 | 380 | 0.0026 | 20 | c.205 others(37): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0308 a0002c0002t0009g0309 |
2 | 380 | 0.0053 | 20 | c.205 others(37): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0116 | 1 | 380 | 0.0026 | 20 | c.205 others(37): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130843004 | A | AGAAGGAA others(13): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 380 | 0.0026 | 20 | c.-39 others(31): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3755 | chr12 | TogoVar | |||||||
STX2_chr12_130784600_130844250 | 130843025 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 | 1 | 380 | 0.0026 | 20 | c.-39 others(31): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3776 | chr12 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023077 | C | CCTCTCTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 350 | 0.0029 | 20 | c.-40 others(29): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 208 | chr1 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132490965 | G | GCAGCACA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02895.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017others(9): Show | a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 others(15): Show |
19 | 380 | 0.0500 | 20 | c.85+ others(37): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9471031 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0002 | a0001c0001t0001g0094 a0001c0001t0002g0085 a0001c0006t0002g0138 others(1): Show |
4 | 188 | 0.0213 | 20 | c.541 others(39): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9535424 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18957.hp1 NA18986.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0001 | a0001c0001t0001g0083 a0001c0002t0002g0026 a0001c0004t0001g0082 |
3 | 188 | 0.0160 | 20 | c.323 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 188 | 0.0053 | 20 | c.213 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 188 | 0.0053 | 20 | c.118 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 NA20129.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0002 a0001c0003t0001g0004 |
2 | 188 | 0.0106 | 20 | c.118 others(37): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 120984632 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0251 a0001c0001t0003g0260 a0001c0001t0003g0287 others(7): Show |
10 | 290 | 0.0345 | 20 | c.287 others(39): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121105395 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp2 others(8): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0287 others(8): Show |
11 | 290 | 0.0379 | 20 | c.471 others(37): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027 | a0001c0001t0026g0265 a0001c0001t0027g0276 |
2 | 290 | 0.0069 | 20 | c.211 others(39): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213434 | A | ATATATGT others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18906.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0007a0002c0002t0008 | a0001c0004t0007g0172 a0002c0002t0008g0173 |
2 | 350 | 0.0057 | 20 | c.248 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0178 | 1 | 350 | 0.0029 | 20 | c.248 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147213477 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp1 |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0180 a0003c0005t0015g0182 |
2 | 350 | 0.0057 | 20 | c.248 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147337192 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02451.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(3): Show | a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0011g0260 others(7): Show |
10 | 350 | 0.0286 | 20 | c.214 others(39): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147337214 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(97): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0002others(2): Show | a0001c0003t0009a0001c0004t0007a0001c0004t0021others(11): Show | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(97): Show |
100 | 350 | 0.2857 | 20 | c.214 others(39): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 350 | 0.0029 | 20 | c.308 others(39): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 350 | 0.0029 | 20 | c.*72 others(31): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 NA18971.hp1 NA18974.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0017 | a0002c0002t0002g0105 a0002c0002t0002g0128 a0002c0002t0004g0102 others(3): Show |
6 | 350 | 0.0171 | 20 | c.*72 others(31): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147392017 | A | AGAGAGAG others(13): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0014 | a0002c0002t0002g0137 a0002c0002t0014g0019 |
2 | 350 | 0.0057 | 20 | c.*72 others(31): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24810865 | C | CTGTGTGT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG03209.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0064a0001c0001t0073 | a0001c0001t0028g0062 a0001c0001t0028g0148 a0001c0001t0064g0145 others(1): Show |
4 | 242 | 0.0165 | 20 | c.*18 others(31): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 6/6 | 1843 | chr14 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0164 | 1 | 242 | 0.0041 | 20 | c.155 others(39): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24964647 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0088 | a0001c0001t0002g0022 a0001c0001t0026g0149 a0001c0001t0088g0186 |
3 | 242 | 0.0124 | 20 | c.154 others(38): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0026a0001c0001t0028others(1): Show | a0001c0001t0018g0151 a0001c0001t0026g0149 a0001c0001t0028g0148 others(1): Show |
4 | 242 | 0.0165 | 20 | c.-32 others(39): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25002359 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0239 | 1 | 242 | 0.0041 | 20 | c.-32 others(39): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 75999493 | G | GTGTATGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0017 others(3): Show |
6 | 356 | 0.0169 | 20 | c.810 others(37): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76017866 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(34): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0003t0001a0001c0005t0002others(1): Show | a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 others(34): Show |
37 | 356 | 0.1039 | 20 | c.308 others(37): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76026192 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 356 | 0.0028 | 20 | c.165 others(37): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47943762 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 358 | 0.0028 | 20 | c.131 others(37): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47943766 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18951.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 a0003c0003t0001g0201 |
2 | 358 | 0.0056 | 20 | c.131 others(37): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47943766 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02809.hp2 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0209 a0002c0009t0001g0331 |
2 | 358 | 0.0056 | 20 | c.131 others(37): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar |