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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAMP4_chr19_1900399_1931013 | 1906866 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0055 others(23): Show |
28 | 442 | 0.0634 | 18 | c.-42 others(35): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990990 | C | CTTTCTTT others(11): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 | 1 | 370 | 0.0027 | 18 | c.-47 others(29): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4572 | chr15 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | C | CTTTCTTT others(11): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 370 | 0.0027 | 18 | c.-47 others(29): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76357150 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01516.hp2 HG01993.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0037 others(9): Show |
12 | 312 | 0.0385 | 18 | c.385 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76428866 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 HG02486.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0002a0002c0003t0002 | a0001c0001t0001g0015 a0002c0002t0002g0221 a0002c0002t0002g0234 others(8): Show |
11 | 312 | 0.0353 | 18 | c.331 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76431676 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02717.hp2 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0111 a0001c0001t0004g0149 a0001c0001t0004g0151 others(2): Show |
5 | 312 | 0.0160 | 18 | c.331 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76488714 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18906.hp1 NA19056.hp1 others(1): Show |
a0002a0005a0011 | a0002c0002a0002c0025a0005c0009others(1): Show | a0002c0002t0002a0002c0025t0002a0005c0009t0001others(1): Show | a0002c0002t0002g0259 a0002c0025t0002g0263 a0005c0009t0001g0171 others(1): Show |
4 | 312 | 0.0128 | 18 | c.295 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76511841 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0247 | 1 | 312 | 0.0032 | 18 | c.283 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76511843 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0246 | 1 | 312 | 0.0032 | 18 | c.283 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76572919 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0128 | 1 | 312 | 0.0032 | 18 | c.283 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 23/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652369 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0186 | 1 | 312 | 0.0032 | 18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652371 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0023 | a0002c0023t0002 | a0002c0023t0002g0229 | 1 | 312 | 0.0032 | 18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652371 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0002c0002t0002g0222 others(1): Show |
4 | 312 | 0.0128 | 18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652371 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02280.hp2 NA19057.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0004 a0002c0002t0002g0236 a0002c0002t0002g0244 |
3 | 312 | 0.0096 | 18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652371 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0305 a0002c0002t0002g0307 |
2 | 312 | 0.0064 | 18 | c.264 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76726124 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0047 others(21): Show |
24 | 312 | 0.0769 | 18 | c.216 others(37): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 17/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76910275 | T | TACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0008 | a0008c0021 | a0008c0021t0001 | a0008c0021t0001g0197 | 1 | 312 | 0.0032 | 18 | c.-50 others(29): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 4936 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47473080 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 HG02965.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(7): Show |
10 | 304 | 0.0329 | 18 | c.-99 others(35): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27653570 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01074.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0113 others(39): Show |
43 | 408 | 0.1054 | 18 | c.226 others(35): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA3_chr8_27628902_27678018 | 27668546 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 others(1): Show |
4 | 408 | 0.0098 | 18 | c.137 others(37): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27907572 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01167.hp2 others(16): Show |
a0002a0006 | a0002c0006a0002c0010a0002c0013others(6): Show | a0002c0006t0002a0002c0006t0005a0002c0006t0018others(13): Show | a0002c0006t0002g0079 a0002c0006t0005g0200 a0002c0006t0018g0222 others(16): Show |
19 | 314 | 0.0605 | 18 | c.998 others(33): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918643 | G | GGAGGAGG others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 HG04204.hp2 |
a0001a0002 | a0001c0009a0002c0015 | a0001c0009t0003a0002c0015t0014 | a0001c0009t0003g0221 a0002c0015t0014g0227 |
2 | 314 | 0.0064 | 18 | c.916 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27919040 | G | GAGAGAAG others(11): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0178 a0001c0005t0004g0179 |
2 | 314 | 0.0064 | 18 | c.916 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27936592 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01106.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0032a0001c0002t0001others(25): Show | a0001c0001t0001g0234 a0001c0001t0032g0114 a0001c0002t0001g0196 others(29): Show |
32 | 314 | 0.1019 | 18 | c.242 others(37): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27989129 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0007 | a0001c0007t0064 | a0001c0007t0064g0314 | 1 | 314 | 0.0032 | 18 | c.-15 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76169341 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0201 | 1 | 384 | 0.0026 | 18 | c.111 others(35): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76170971 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0134 |
2 | 384 | 0.0052 | 18 | c.995 others(33): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76189474 | C | CTGTTGTT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 2 | 384 | 0.0052 | 18 | c.275 others(35): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SCARF1_chr17_1628858_1650732 | 1643307 | G | GGTGTCCG others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 401 | 0.0025 | 18 | c.791 others(33): Show |
SCARF1 | ENSG00000074660.17 | transcript | ENST00000263071.9 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 410 | 0.0024 | 18 | c.-19 others(29): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664999 | C | CTCTATAT others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0192 | 1 | 210 | 0.0048 | 18 | c.569 others(37): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664999 | C | CTCTCTAT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0190 | 1 | 210 | 0.0048 | 18 | c.569 others(37): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664999 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 210 | 0.0048 | 18 | c.569 others(37): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77593295 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0079 | 1 | 356 | 0.0028 | 18 | c.693 others(33): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 11/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77637321 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01243.hp1 others(21): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005 | a0001c0004t0001a0002c0001t0002a0003c0005t0002 | a0001c0004t0001g0064 a0001c0004t0001g0106 a0001c0004t0001g0132 others(21): Show |
24 | 356 | 0.0674 | 18 | c.183 others(35): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77637371 | T | TAAACATA others(11): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0248 | 1 | 356 | 0.0028 | 18 | c.183 others(35): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52952242 | G | GCCCCATC others(11): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0002g0129 |
2 | 162 | 0.0124 | 18 | c.156 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 52959897 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0003t0003 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(9): Show |
12 | 162 | 0.0741 | 18 | c.156 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53007305 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02155.hp2 HG02300.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0105 others(4): Show |
7 | 162 | 0.0432 | 18 | c.156 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53140392 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01358.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0125 a0001c0001t0001g0131 others(5): Show |
8 | 162 | 0.0494 | 18 | c.156 others(37): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53140416 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 162 | 0.0062 | 18 | c.156 others(37): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53212602 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0061 | 1 | 162 | 0.0062 | 18 | c.131 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53258538 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 162 | 0.0062 | 18 | c.131 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53258577 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18999.hp2 NA19007.hp2 |
a0001a0005 | a0001c0005a0005c0011 | a0001c0005t0001a0005c0011t0003 | a0001c0005t0001g0023 a0001c0005t0001g0039 a0005c0011t0003g0003 |
3 | 162 | 0.0185 | 18 | c.131 others(39): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCG2_chr2_223591940_223607361 | 223600973 | A | AATAATAA others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 394 | 0.0025 | 18 | c.-15 others(35): Show |
SCG2 | ENSG00000171951.5 | transcript | ENST00000305409.3 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704244 | C | CATACATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01515.hp1 HG01517.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0191 others(13): Show |
16 | 402 | 0.0398 | 18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51704244 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0380 | 1 | 402 | 0.0025 | 18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51704764 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0295 others(12): Show |
16 | 402 | 0.0398 | 18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709695 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 402 | 0.0025 | 18 | c.120 others(37): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG5_chr15_32636710_32702092 | 32657199 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 415 | 0.0024 | 18 | c.226 others(37): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |