regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCML4_chr6_107697154_107829313 | 107751572 | ATCTTTCT others(17): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 250 | 0.0040 | -24 | c.157 others(41): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778210 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0139 | 1 | 250 | 0.0040 | -24 | c.-59 others(41): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107802576 | GAGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0124a0001c0001t0014g0125 | 2 | 250 | 0.0080 | -24 | c.-60 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107813369 | ATTATATA others(17): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19079.hp1 NA19090.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0001a0001c0010t0007 | a0001c0009t0001g0139a0001c0010t0007g0140a0001c0010t0007g0141 | 3 | 250 | 0.0120 | -24 | c.-60 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107813401 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00609.hp2 NA18964.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0009a0001c0005t0011 | a0001c0002t0009g0067a0001c0005t0011g0061 | 2 | 250 | 0.0080 | -24 | c.-60 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
SCN10A_chr3_38691807_38821217 | 38719367 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00673.hp1 others(26): Show |
a0001a0005a0016others(1): Show | a0001c0003a0001c0004a0001c0031others(5): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0006others(6): Show | a0001c0003t0001g0034a0001c0004t0001g0007a0001c0004t0001g0009others(25): Show | 29 | 372 | 0.0780 | -24 | c.350 others(41): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 20/27 | chr3 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291345 | GTCGTTCG others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01256.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0006t0002others(1): Show | a0001c0001t0002g0103a0001c0001t0002g0300a0001c0001t0002g0332others(5): Show | 8 | 358 | 0.0224 | -24 | c.-51 others(41): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SCN2A_chr2_165234414_165397304 | 165291436 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145a0001c0001t0002g0146 | 2 | 358 | 0.0056 | -24 | c.-51 others(41): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SCN2A_chr2_165234414_165397304 | 165291471 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0271 | 2 | 358 | 0.0056 | -24 | c.-51 others(41): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SCN3B_chr11_123624188_123659624 | 123644788 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp2 HG01928.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0121a0001c0001t0001g0124others(20): Show | 33 | 450 | 0.0733 | -24 | c.219 others(39): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
SCN3B_chr11_123624188_123659624 | 123644792 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0342 | 1 | 450 | 0.0022 | -24 | c.219 others(39): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
SCN3B_chr11_123624188_123659624 | 123644796 | AGAGAATA others(17): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01361.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0048others(22): Show | 30 | 450 | 0.0667 | -24 | c.219 others(39): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
SCN3B_chr11_123624188_123659624 | 123644800 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 450 | 0.0022 | -24 | c.219 others(39): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38555057 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0075 | a0003c0075t0001 | a0003c0075t0001g0054 | 1 | 340 | 0.0029 | -24 | c.454 others(41): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38651154 | CAGCGTCC others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0229 | 1 | 340 | 0.0029 | -24 | c.-17 others(35): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 1468 | chr3 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166414085 | GTAAATAT others(17): Show |
G | intron_variant | MODIFIER | HG02071.hp2 NA18949.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0246a0001c0001t0007g0247a0001c0001t0007g0248 | 3 | 394 | 0.0076 | -24 | c.341 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166414247 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG03471.hp1 others(3): Show |
a0001a0026a0028 | a0001c0001a0026c0030a0028c0033 | a0001c0001t0008a0026c0030t0008a0028c0033t0008 | a0001c0001t0008g0373a0001c0001t0008g0374a0001c0001t0008g0375others(3): Show | 6 | 394 | 0.0152 | -24 | c.341 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
SCN7A_chr2_166398573_166499249 | 166414263 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01175.hp2 others(22): Show |
a0001a0005a0019others(2): Show | a0001c0001a0001c0012a0001c0028others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0001g0112a0001c0001t0001g0350a0001c0001t0003g0346others(22): Show | 25 | 394 | 0.0635 | -24 | c.341 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51701280 | AATATGTT others(17): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0184 | 1 | 202 | 0.0050 | -24 | c.992 others(37): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SCN9A_chr2_166190185_166380944 | 166191677 | ATATACAC others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(106): Show |
a0001a0004a0007others(9): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0030a0001c0002t0001others(31): Show | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0043others(105): Show | 109 | 296 | 0.3682 | -24 | c.*69 others(35): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3507 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191722 | CATATATA others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0071 | a0002c0071t0004 | a0002c0071t0004g0294 | 1 | 296 | 0.0034 | -24 | c.*69 others(35): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3462 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166222930 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0022a0001c0026 | a0001c0022t0008a0001c0026t0008 | a0001c0022t0008g0106a0001c0022t0008g0107a0001c0022t0008g0185others(2): Show | 5 | 296 | 0.0169 | -24 | c.439 others(43): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166340540 | CCCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02896.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0002a0001c0011t0006 | a0001c0003t0002g0284a0001c0011t0006g0194 | 2 | 296 | 0.0068 | -24 | c.-50 others(43): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23305557 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02818.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0248a0001c0001t0004g0086others(4): Show | 7 | 306 | 0.0229 | -24 | c.-9+ others(39): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23333107 | AAGGGAGG others(17): Show |
A | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 306 | 0.0033 | -24 | c.-8- others(41): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCNN1B_chr16_23297302_23386294 | 23343581 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG02717.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0071a0001c0001t0001g0101a0001c0001t0001g0248others(1): Show | 4 | 306 | 0.0131 | -24 | c.-8- others(39): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCNN1B_chr16_23297302_23386294 | 23365575 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0013 | 1 | 306 | 0.0033 | -24 | c.777 others(41): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCNN1G_chr16_23177745_23221883 | 23204288 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0015 | a0001c0001t0001g0053a0001c0002t0015g0290 | 2 | 320 | 0.0063 | -24 | c.107 others(43): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCP2_chr1_52922276_53056698 | 53037909 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0064a0001c0001t0002g0088a0001c0001t0002g0193others(32): Show | 35 | 280 | 0.1250 | -24 | c.133 others(42): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | chr1 | TogoVar | ||||||
SCTR_chr2_119434843_119529483 | 119512334 | CCCTTCCC others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0102a0001c0001t0001g0108a0001c0001t0001g0109others(20): Show | 23 | 290 | 0.0793 | -24 | c.72+ others(41): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
SCT_chr11_621309_632181 | 628897 | TTTTCTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01169.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0002c0004t0001g0006 | 8 | 411 | 0.0195 | -24 | c.-17 others(35): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1717 | chr11 | TogoVar | ||||||
SCT_chr11_621309_632181 | 628935 | TTCTTTCT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 411 | 0.0024 | -24 | c.-18 others(35): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1755 | chr11 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281413 | AGCCATCC others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02717.hp2 others(6): Show |
a0001a0002a0007 | a0001c0004a0001c0008a0001c0010others(2): Show | a0001c0004t0004a0001c0004t0016a0001c0008t0009others(6): Show | a0001c0004t0004g0078a0001c0004t0016g0008a0001c0008t0009g0248others(6): Show | 9 | 280 | 0.0321 | -24 | c.484 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281429 | CCTCCCTT others(17): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0065 | 1 | 280 | 0.0036 | -24 | c.484 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281437 | GGCCACCC others(17): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02735.hp2 others(2): Show |
a0001a0002 | a0001c0004a0001c0012a0001c0039others(1): Show | a0001c0004t0088a0001c0012t0043a0001c0039t0040others(1): Show | a0001c0004t0088g0276a0001c0012t0043g0161a0001c0039t0040g0134others(2): Show | 5 | 280 | 0.0179 | -24 | c.484 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281508 | CTCCTCAG others(17): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0039 | a0001c0039t0040 | a0001c0039t0040g0134 | 1 | 280 | 0.0036 | -24 | c.484 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281516 | CCACCCTC others(17): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02965.hp2 HG02976.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0051a0002c0002others(5): Show | a0001c0004t0004a0001c0004t0016a0001c0004t0027others(8): Show | a0001c0004t0004g0120a0001c0004t0016g0015a0001c0004t0027g0016others(8): Show | 11 | 280 | 0.0393 | -24 | c.484 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43323588 | ACATCCAT others(17): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA19083.hp1 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0004a0002c0005t0001 | a0001c0004t0004g0181a0002c0005t0001g0185 | 2 | 280 | 0.0071 | -24 | c.221 others(41): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 2/21 | chr22 | TogoVar | ||||||
SCUBE3_chr6_35208956_35258079 | 35217229 | GGGGGGGG others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004a0001c0001t0006g0178a0001c0001t0006g0223 | 7 | 290 | 0.0241 | -24 | c.85+ others(39): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCYGR1_chr2_227382683_227392949 | 227387211 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01496.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 4 | 454 | 0.0088 | -24 | c.*44 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 471 | chr2 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227387213 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 NA18965.hp2 NA19010.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0000a0002c0002t0000 | a0001c0001t0000g0000a0002c0002t0000g0000 | 3 | 454 | 0.0066 | -24 | c.*44 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 469 | chr2 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227387215 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01106.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0000a0001c0003t0000a0002c0002t0000 | a0001c0001t0000g0000a0001c0003t0000g0000a0002c0002t0000g0000 | 25 | 454 | 0.0551 | -24 | c.*44 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 467 | chr2 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227387217 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(52): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0000a0001c0003t0000a0002c0002t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0002c0002t0000g0000others(2): Show | 55 | 454 | 0.1212 | -24 | c.*44 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 465 | chr2 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227387219 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0000a0002c0002t0000a0005c0006t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0005c0006t0000g0000 | 26 | 454 | 0.0573 | -24 | c.*44 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 463 | chr2 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227387221 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02083.hp1 HG02109.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0000a0002c0002t0000a0005c0006t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0005c0006t0000g0000 | 6 | 454 | 0.0132 | -24 | c.*43 others(33): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 461 | chr2 | TogoVar | ||||||
SCYGR3_chr2_227609538_227619840 | 227617581 | CGGTGGTG others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01884.hp2 others(28): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0004others(2): Show | a0001c0001t0000a0001c0006t0000a0003c0004t0000others(2): Show | a0001c0001t0000g0000a0001c0006t0000g0000a0003c0004t0000g0000others(2): Show | 31 | 462 | 0.0671 | -24 | c.-27 others(35): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 2742 | chr2 | TogoVar | ||||||
SCYGR4_chr2_227612498_227622815 | 227617581 | CGGTGGTG others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG01106.hp1 HG01884.hp1 others(28): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 31 | 458 | 0.0677 | -24 | c.96_ others(30): Show |
p.Gly others(11): Show |
SCYGR4 | ENSG00000284631.2 | transcript | ENST00000641801.2 | protein_coding | 1/1 | 96/318 | 96/318 | 32/105 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SCYGR6_chr2_227719440_227729757 | 227728380 | TGTGGTGG others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 1 | 455 | 0.0022 | -24 | c.-36 others(35): Show |
SCYGR6 | ENSG00000284725.1 | transcript | ENST00000641918.1 | protein_coding | 3624 | chr2 | TogoVar | ||||||
SCYGR7_chr2_227723335_227733625 | 227728380 | TGTGGTGG others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG02809.hp1 | a0020 | a0020c0033 | a0020c0033t0000 | a0020c0033t0000g0000 | 1 | 456 | 0.0022 | -24 | c.69_ others(29): Show |
p.Gly others(11): Show |
SCYGR7 | ENSG00000284718.1 | transcript | ENST00000641700.1 | protein_coding | 1/1 | 69/291 | 69/291 | 23/96 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SCYGR8_chr2_227740894_227751220 | 227741188 | CGCAGTGA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(288): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0000a0001c0006t0000a0002c0002t0000others(4): Show | a0001c0001t0000g0000a0001c0006t0000g0000a0002c0002t0000g0000others(4): Show | 291 | 457 | 0.6368 | -24 | c.-47 others(35): Show |
SCYGR8 | ENSG00000284635.2 | transcript | ENST00000641981.2 | protein_coding | 4705 | chr2 | TogoVar |