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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SASH1_chr6_148337838_148557044 | 148449079 | T | TTTTTCTT others(11): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0124 | 1 | 322 | 0.0031 | 18 | c.386 others(35): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148456873 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0157 a0001c0001t0002g0146 others(37): Show |
40 | 322 | 0.1242 | 18 | c.387 others(37): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18344358 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0003 | a0001c0001t0020g0001 a0001c0002t0003g0197 |
2 | 352 | 0.0057 | 18 | c.*47 others(29): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199323508 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 254 | 0.0039 | 18 | c.154 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199355342 | G | GTATCTAT others(11): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 254 | 0.0039 | 18 | c.701 others(35): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85118087 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 232 | 0.0043 | 18 | c.-31 others(37): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10063858 | C | CACAGAGA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18946.hp1 NA18948.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 others(9): Show |
12 | 224 | 0.0536 | 18 | c.142 others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10063858 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 224 | 0.0045 | 18 | c.142 others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10094528 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0003g0040 |
2 | 224 | 0.0089 | 18 | c.142 others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10166961 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0004 | a0001c0001t0003g0042 a0002c0002t0001g0012 a0002c0002t0001g0013 others(2): Show |
5 | 224 | 0.0223 | 18 | c.141 others(37): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10211014 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02602.hp1 HG02615.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0010 | a0001c0001t0002a0001c0003t0002a0005c0010t0001 | a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0003t0002g0184 others(2): Show |
5 | 224 | 0.0223 | 18 | c.56- others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10223399 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0121 | 1 | 224 | 0.0045 | 18 | c.56- others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10223399 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 224 | 0.0045 | 18 | c.56- others(35): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123297400 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01074.hp1 others(21): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0158 others(21): Show |
24 | 260 | 0.0923 | 18 | c.403 others(35): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 31/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123307020 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18948.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0022a0001c0002t0086 | a0001c0002t0003g0225 a0001c0002t0003g0231 a0001c0002t0003g0233 others(2): Show |
5 | 260 | 0.0192 | 18 | c.363 others(37): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 28/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123311720 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0010 | a0001c0010t0060 | a0001c0010t0060g0130 | 1 | 260 | 0.0039 | 18 | c.322 others(35): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 24/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1127111 | G | GCACCATG others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(14): Show |
a0001a0004a0008 | a0001c0006a0001c0007a0001c0010others(6): Show | a0001c0006t0001a0001c0006t0006a0001c0007t0001others(7): Show | a0001c0006t0001g0013 a0001c0006t0001g0039 a0001c0006t0001g0056 others(14): Show |
17 | 203 | 0.0837 | 18 | c.441 others(33): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 5/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1161906 | C | CGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0091 | 1 | 203 | 0.0049 | 18 | c.-12 others(37): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1161906 | C | CGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0122 | 1 | 203 | 0.0049 | 18 | c.-12 others(37): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164506 | G | GAGGAGGA others(11): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0045 | 1 | 203 | 0.0049 | 18 | c.-12 others(37): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520352 | G | GTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00639.hp2 others(59): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0010others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(6): Show | a0001c0002t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0008 others(10): Show |
62 | 450 | 0.1378 | 18 | c.*31 others(29): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3014 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | C | CTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02572.hp2 NA18747.hp1 others(9): Show |
a0001a0002a0023 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0002 a0001c0003t0001g0006 a0001c0003t0001g0012 others(4): Show |
12 | 450 | 0.0267 | 18 | c.*31 others(29): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 450 | 0.0022 | 18 | c.*31 others(29): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0094 | 1 | 450 | 0.0022 | 18 | c.*31 others(29): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73067589 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0095 | 1 | 414 | 0.0024 | 18 | c.678 others(33): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 NA18995.hp2 NA19000.hp2 |
a0002a0018 | a0002c0001a0018c0021 | a0002c0001t0001a0018c0021t0001 | a0002c0001t0001g0008 a0002c0001t0001g0026 a0018c0021t0001g0013 |
3 | 382 | 0.0079 | 18 | c.*15 others(29): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49659984 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 HG02809.hp2 NA20805.hp1 |
a0001 | a0001c0002a0001c0036 | a0001c0002t0002a0001c0036t0002 | a0001c0002t0002g0033 a0001c0002t0002g0063 a0001c0036t0002g0061 |
3 | 382 | 0.0079 | 18 | c.*15 others(29): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154784120 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0137 a0001c0001t0007g0112 |
2 | 282 | 0.0071 | 18 | c.160 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154784155 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0107 |
2 | 282 | 0.0071 | 18 | c.160 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG02004.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0120 others(10): Show |
13 | 282 | 0.0461 | 18 | c.606 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154796389 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 282 | 0.0036 | 18 | c.606 others(35): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 124959523 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0306 | 1 | 306 | 0.0033 | 18 | c.167 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 17/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042615 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0306 | 1 | 306 | 0.0033 | 18 | c.231 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02074.hp1 HG02165.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0053others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0015 others(7): Show |
10 | 306 | 0.0327 | 18 | c.231 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18988.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0004 | a0001c0001t0006g0294 a0002c0004t0004g0230 |
2 | 306 | 0.0065 | 18 | c.231 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125042634 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0028 | a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0006g0122 others(1): Show |
4 | 306 | 0.0131 | 18 | c.231 others(37): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125046196 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01261.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0002g0080 others(18): Show |
21 | 306 | 0.0686 | 18 | c.230 others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 3/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125073092 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 306 | 0.0033 | 18 | c.99- others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0251 | 1 | 306 | 0.0033 | 18 | c.98+ others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 306 | 0.0033 | 18 | c.98+ others(35): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74873426 | G | GCCCCCCC others(11): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0363 | 1 | 386 | 0.0026 | 18 | c.-17 others(27): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 62 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 NA18968.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0007 a0001c0001t0004g0336 a0001c0001t0006g0304 |
3 | 386 | 0.0078 | 18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0359 | 1 | 386 | 0.0026 | 18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0343 | 1 | 386 | 0.0026 | 18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | AAAAAATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0276 | 1 | 386 | 0.0026 | 18 | c.-14 others(29): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252690 | G | GTGTATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
5 | 375 | 0.0133 | 18 | c.*35 others(29): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3290 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252690 | G | GTGTATGT others(11): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 375 | 0.0027 | 18 | c.*35 others(29): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3290 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252690 | G | GTGTGTAT others(11): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18944.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0006 |
6 | 375 | 0.0160 | 18 | c.*35 others(29): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3290 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252722 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 375 | 0.0027 | 18 | c.*35 others(29): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3258 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1906866 | T | TGGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02683.hp2 HG02922.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0004g0014 a0001c0001t0004g0139 a0001c0001t0004g0143 others(19): Show |
24 | 442 | 0.0543 | 18 | c.-42 others(35): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 1/6 | chr19 | TogoVar |