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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBF2_chr11_9773668_10299219 | 10166961 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 224 | 0.0045 | 26 | c.141 others(45): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0162 | 1 | 224 | 0.0045 | 26 | c.56- others(41): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212 | 1 | 224 | 0.0045 | 26 | c.56- others(41): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 224 | 0.0045 | 26 | c.56- others(41): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10293917 | T | TCCCCGAC others(19): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 224 | 0.0045 | 26 | c.55+ others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28321182 | A | AACACACA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0070 | 1 | 384 | 0.0026 | 26 | c.*29 others(35): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 318 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBNO1_chr12_123284109_123369847 | 123307020 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0006 | a0006c0013 | a0006c0013t0091 | a0006c0013t0091g0223 | 1 | 260 | 0.0039 | 26 | c.363 others(45): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 28/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1157409 | G | GCCCCGAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0098 | 1 | 203 | 0.0049 | 26 | c.-12 others(45): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520373 | T | TATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 450 | 0.0022 | 26 | c.*31 others(37): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 2993 | chr19 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73067589 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0218 | 1 | 414 | 0.0024 | 26 | c.678 others(41): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0034 a0001c0002t0002g0052 |
4 | 382 | 0.0105 | 26 | c.*15 others(37): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0042 | a0042c0048 | a0042c0048t0002 | a0042c0048t0002g0082 | 1 | 382 | 0.0026 | 26 | c.*15 others(37): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0101 |
2 | 282 | 0.0071 | 26 | c.606 others(43): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0136 | 1 | 306 | 0.0033 | 26 | c.231 others(45): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0051 | 1 | 306 | 0.0033 | 26 | c.231 others(45): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291 a0001c0001t0005g0297 |
2 | 306 | 0.0065 | 26 | c.231 others(45): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0155 | 1 | 306 | 0.0033 | 26 | c.98+ others(43): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 a0001c0001t0003g0159 |
2 | 306 | 0.0065 | 26 | c.98+ others(43): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0235 | 1 | 306 | 0.0033 | 26 | c.98+ others(43): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252690 | G | GTGTATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 NA18747.hp1 NA19085.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0004 a0006c0007t0001g0054 |
3 | 375 | 0.0080 | 26 | c.*35 others(37): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3290 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252722 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 375 | 0.0027 | 26 | c.*35 others(37): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3258 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1906866 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 others(2): Show |
5 | 442 | 0.0113 | 26 | c.-42 others(43): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990919 | G | GGGGGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 370 | 0.0027 | 26 | c.-48 others(37): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4643 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76428866 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01169.hp1 HG02074.hp2 others(6): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(6): Show |
9 | 312 | 0.0289 | 26 | c.331 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76428894 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0281 | 1 | 312 | 0.0032 | 26 | c.331 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76488714 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG01993.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 a0002c0002t0002g0258 a0002c0002t0002g0286 |
3 | 312 | 0.0096 | 26 | c.295 others(47): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652371 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0270 | 1 | 312 | 0.0032 | 26 | c.264 others(47): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667650 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0294 | 1 | 312 | 0.0032 | 26 | c.250 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76726124 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02280.hp1 HG03130.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0004t0001g0129 others(4): Show |
7 | 312 | 0.0224 | 26 | c.216 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 17/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47473080 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0047 a0001c0001t0001g0268 a0001c0001t0001g0269 others(11): Show |
14 | 304 | 0.0461 | 26 | c.-99 others(43): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133460471 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0004 | a0004c0045 | a0004c0045t0005 | a0004c0045t0005g0167 | 1 | 434 | 0.0023 | 26 | c.196 others(43): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82664999 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 210 | 0.0048 | 26 | c.569 others(45): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77633442 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01515.hp1 others(5): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005 | a0001c0004t0002a0002c0001t0001a0002c0001t0003others(1): Show | a0001c0004t0002g0108 a0001c0004t0002g0117 a0002c0001t0001g0304 others(5): Show |
8 | 356 | 0.0225 | 26 | c.169 others(43): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30625721 | A | ATACCTAT others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056 | 1 | 328 | 0.0031 | 26 | c.62- others(41): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52959897 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02129.hp2 HG02155.hp1 others(4): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0001c0009others(3): Show | a0001c0003t0003a0001c0005t0001a0001c0009t0009others(3): Show | a0001c0003t0003g0140 a0001c0005t0001g0023 a0001c0005t0001g0024 others(4): Show |
7 | 162 | 0.0432 | 26 | c.156 others(47): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53140392 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03834.hp1 NA18941.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0003t0005others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0002g0138 others(2): Show |
5 | 162 | 0.0309 | 26 | c.156 others(45): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704764 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0311 a0001c0001t0001g0329 a0001c0001t0003g0028 others(3): Show |
6 | 402 | 0.0149 | 26 | c.120 others(45): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1C1_chr11_188078_199575 | 196113 | C | CTGGTGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02922.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 a0001c0004t0001g0009 |
5 | 354 | 0.0141 | 26 | c.*16 others(37): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1539 | chr11 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141484 | C | CTGGTGAG others(19): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 402 | 0.0050 | 26 | c.*25 others(37): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2418 | chr17 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141484 | C | CTGGTGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(5): Show |
124 | 402 | 0.3085 | 26 | c.*25 others(37): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2418 | chr17 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34608660 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02129.hp1 HG03704.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(3): Show | a0001c0001t0002g0213 a0001c0001t0008g0132 a0001c0001t0008g0135 others(5): Show |
8 | 370 | 0.0216 | 26 | c.-20 others(49): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34608684 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0129 | a0001c0001t0032g0343 a0001c0001t0129g0348 |
2 | 370 | 0.0054 | 26 | c.-20 others(49): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34669714 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0034 others(71): Show |
76 | 370 | 0.2054 | 26 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34669714 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02129.hp2 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0122a0001c0001t0123others(2): Show | a0001c0001t0048g0337 a0001c0001t0048g0339 a0001c0001t0122g0335 others(3): Show |
6 | 370 | 0.0162 | 26 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159668376 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 100 | 0.0100 | 26 | c.64- others(43): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159735982 | G | GGTTATGC others(19): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 100 | 0.0100 | 26 | c.64- others(43): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159813449 | G | GAGCCCAG others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 100 | 0.0100 | 26 | c.759 others(45): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159842997 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 100 | 0.0100 | 26 | c.760 others(45): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0263a0002c0002t0265a0002c0003t0003others(3): Show | a0002c0002t0263g0246 a0002c0002t0265g0245 a0002c0003t0003g0233 others(4): Show |
7 | 372 | 0.0188 | 26 | c.354 others(41): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0258 | a0002c0002t0258g0252 | 1 | 372 | 0.0027 | 26 | c.*48 others(37): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |