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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR2_chr1_237037184_237838988 | 237117671 | C | CCTTCTCT others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG00741.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0007a0001c0002t0026a0001c0004t0001others(5): Show | a0001c0001t0007g0082 a0001c0002t0026g0059 a0001c0004t0001g0058 others(5): Show |
8 | 100 | 0.0800 | 20 | c.48+ others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237209497 | A | ATATGTGT others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0026 | 1 | 100 | 0.0100 | 20 | c.49- others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237209497 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01496.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0004a0001c0007others(5): Show | a0001c0003t0003a0001c0004t0001a0001c0004t0004others(7): Show | a0001c0003t0003g0084 a0001c0004t0001g0058 a0001c0004t0004g0045 others(7): Show |
10 | 100 | 0.1000 | 20 | c.49- others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237237945 | C | CCCTTTCC others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01256.hp1 others(9): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0002t0002g0076 a0001c0003t0002g0065 a0001c0003t0002g0087 others(9): Show |
12 | 100 | 0.1200 | 20 | c.49- others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237238867 | G | GAAAAATG others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0028others(1): Show | a0001c0001t0038a0001c0002t0003a0001c0028t0007others(1): Show | a0001c0001t0038g0026 a0001c0002t0003g0052 a0001c0028t0007g0062 others(1): Show |
4 | 100 | 0.0400 | 20 | c.49- others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237331512 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0035 | a0002c0035t0021 | a0002c0035t0021g0010 | 1 | 100 | 0.0100 | 20 | c.273 others(35): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237408392 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01074.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0041others(10): Show | a0001c0001t0003g0089 a0001c0001t0004g0036 a0001c0001t0041g0001 others(10): Show |
13 | 100 | 0.1300 | 20 | c.774 others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 10/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237436454 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0025 | a0002c0025t0040 | a0002c0025t0040g0003 | 1 | 100 | 0.0100 | 20 | c.100 others(39): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 12/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237481108 | A | ATATGTAT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01081.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0038others(19): Show | a0001c0001t0006g0025 a0001c0001t0007g0082 a0001c0001t0038g0026 others(20): Show |
23 | 100 | 0.2300 | 20 | c.170 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237492824 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 NA21309.hp2 |
a0002 | a0002c0024a0002c0031 | a0002c0024t0005a0002c0031t0025 | a0002c0024t0005g0013 a0002c0031t0025g0056 |
2 | 100 | 0.0200 | 20 | c.182 others(36): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 18/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237546993 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 100 | 0.0100 | 20 | c.290 others(39): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237594886 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19066.hp1 |
a0001a0002 | a0001c0004a0002c0009 | a0001c0004t0018a0002c0009t0004 | a0001c0004t0018g0047 a0002c0009t0004g0067 |
2 | 100 | 0.0200 | 20 | c.443 others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 33/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237623355 | C | CTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00741.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0003others(13): Show | a0001c0001t0003g0089 a0001c0001t0015g0069 a0001c0002t0003g0008 others(14): Show |
17 | 100 | 0.1700 | 20 | c.591 others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 38/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237641471 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0035 | a0002c0035t0021 | a0002c0035t0021g0010 | 1 | 100 | 0.0100 | 20 | c.722 others(37): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 47/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237710699 | G | GTAGATAG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0041 | a0001c0041t0006 | a0001c0041t0006g0027 | 1 | 100 | 0.0100 | 20 | c.102 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 70/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237724184 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 100 | 0.0100 | 20 | c.106 others(39): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 74/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237798801 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0019 | a0001c0019t0022 | a0001c0019t0022g0035 | 1 | 100 | 0.0100 | 20 | c.140 others(39): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 97/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237810986 | C | CAGGGGTA others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 100 | 0.0100 | 20 | c.144 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 100/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33379687 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0099 | a0001c0099t0002 | a0001c0099t0002g0139 | 1 | 154 | 0.0065 | 20 | c.51+ others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33432667 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0121 | a0003c0121t0008 | a0003c0121t0008g0062 | 1 | 154 | 0.0065 | 20 | c.52- others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33432668 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02965.hp2 others(4): Show |
a0001a0002a0024others(1): Show | a0001c0047a0001c0058a0002c0087others(4): Show | a0001c0047t0001a0001c0058t0002a0002c0087t0001others(4): Show | a0001c0047t0001g0135 a0001c0058t0002g0073 a0002c0087t0001g0039 others(4): Show |
7 | 154 | 0.0455 | 20 | c.52- others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33450087 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0015 | a0015c0059 | a0015c0059t0001 | a0015c0059t0001g0063 | 1 | 154 | 0.0065 | 20 | c.52- others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464489 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0041 | a0041c0041 | a0041c0041t0002 | a0041c0041t0002g0114 | 1 | 154 | 0.0065 | 20 | c.52- others(35): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464499 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02071.hp2 NA18983.hp2 |
a0001a0008 | a0001c0001a0001c0079a0008c0019 | a0001c0001t0010a0001c0079t0006a0008c0019t0001 | a0001c0001t0010g0094 a0001c0079t0006g0038 a0008c0019t0001g0001 |
3 | 154 | 0.0195 | 20 | c.52- others(35): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33464507 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0065 | a0003c0065t0002 | a0003c0065t0002g0150 | 1 | 154 | 0.0065 | 20 | c.52- others(35): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664589 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02723.hp1 others(4): Show |
a0001a0033a0034others(2): Show | a0001c0014a0001c0120a0033c0066others(3): Show | a0001c0014t0002a0001c0120t0002a0033c0066t0002others(3): Show | a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0120t0002g0121 others(4): Show |
7 | 154 | 0.0455 | 20 | c.561 others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664589 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0028 | a0005c0028t0003 | a0005c0028t0003g0086 | 1 | 154 | 0.0065 | 20 | c.561 others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664614 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 HG03471.hp2 others(2): Show |
a0001a0005a0015 | a0001c0083a0005c0022a0005c0032others(2): Show | a0001c0083t0001a0005c0022t0002a0005c0032t0003others(2): Show | a0001c0083t0001g0143 a0005c0022t0002g0147 a0005c0032t0003g0071 others(2): Show |
5 | 154 | 0.0325 | 20 | c.561 others(37): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33705101 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02559.hp2 HG02976.hp1 others(1): Show |
a0003a0012a0039 | a0003c0085a0003c0106a0012c0011others(1): Show | a0003c0085t0002a0003c0106t0002a0012c0011t0009others(1): Show | a0003c0085t0002g0057 a0003c0106t0002g0080 a0012c0011t0009g0066 others(1): Show |
4 | 154 | 0.0260 | 20 | c.648 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 42/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725180 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01109.hp2 NA19009.hp2 others(1): Show |
a0001a0005a0021 | a0001c0001a0001c0009a0005c0028others(1): Show | a0001c0001t0001a0001c0009t0002a0005c0028t0003others(1): Show | a0001c0001t0001g0044 a0001c0009t0002g0099 a0005c0028t0003g0086 others(1): Show |
4 | 154 | 0.0260 | 20 | c.691 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33778170 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG02109.hp2 others(3): Show |
a0005a0006a0018others(2): Show | a0005c0008a0005c0030a0006c0097others(3): Show | a0005c0008t0001a0005c0030t0001a0006c0097t0001others(3): Show | a0005c0008t0001g0019 a0005c0030t0001g0007 a0006c0097t0001g0081 others(3): Show |
6 | 154 | 0.0390 | 20 | c.913 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 64/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789624 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 154 | 0.0065 | 20 | c.983 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789624 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0038 | a0038c0020 | a0038c0020t0001 | a0038c0020t0001g0074 | 1 | 154 | 0.0065 | 20 | c.983 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789658 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0042 | a0042c0071 | a0042c0071t0003 | a0042c0071t0003g0115 | 1 | 154 | 0.0065 | 20 | c.983 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789986 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0015 | 1 | 154 | 0.0065 | 20 | c.983 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33822017 | C | CCATTCAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 NA18981.hp2 |
a0001a0002a0003 | a0001c0002a0002c0092a0003c0121 | a0001c0002t0002a0002c0092t0002a0003c0121t0008 | a0001c0002t0002g0102 a0002c0092t0002g0144 a0003c0121t0008g0062 |
3 | 154 | 0.0195 | 20 | c.109 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 80/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33834285 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0035 | a0035c0094 | a0035c0094t0003 | a0035c0094t0003g0070 | 1 | 154 | 0.0065 | 20 | c.114 others(39): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 86/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A6_chr1_153529599_153540991 | 153540061 | A | ACTCCTAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | 20 | c.-41 others(31): Show |
S100A6 | ENSG00000197956.10 | transcript | ENST00000368719.9 | protein_coding | 4071 | chr1 | TogoVar | |||||||
S100B_chr21_46593604_46610082 | 46603398 | T | TGGGGGGG others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 452 | 0.0022 | 20 | c.-1- others(33): Show |
S100B | ENSG00000160307.10 | transcript | ENST00000291700.9 | protein_coding | 1/2 | chr21 | TogoVar | |||||||
S100PBP_chr1_32812653_32863875 | 32824827 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 HG03453.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0021 a0001c0001t0003g0277 a0003c0003t0003g0273 |
4 | 340 | 0.0118 | 20 | c.-11 others(37): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3174671 | C | CCCTCATG others(13): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02132.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 418 | 0.0072 | 20 | c.-41 others(31): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4097 | chr19 | TogoVar | |||||||
S1PR5_chr19_10507742_10522447 | 10512925 | A | AAAAGAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0110 | 1 | 446 | 0.0022 | 20 | c.*88 others(29): Show |
S1PR5 | ENSG00000180739.15 | transcript | ENST00000333430.6 | protein_coding | 2/2 | 889 | chr19 | TogoVar | ||||||
SAA1_chr11_18261264_18274967 | 18264773 | A | AGAGGGGA others(13): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18985.hp1 NA18985.hp2 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0013 a0003c0003t0001g0002 |
3 | 442 | 0.0068 | 20 | c.-15 others(31): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 1490 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18250400 | G | GAATCCCT others(13): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 474 | 0.0021 | 20 | c.-18 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 1733 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251883 | A | ATTCTTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 474 | 0.0042 | 20 | c.-32 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3216 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251939 | T | TTTCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 NA18949.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 |
3 | 474 | 0.0063 | 20 | c.-33 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3272 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01515.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0038 others(1): Show |
6 | 474 | 0.0127 | 20 | c.-33 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0055 others(2): Show |
9 | 474 | 0.0190 | 20 | c.-33 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG03834.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 474 | 0.0063 | 20 | c.-33 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18252009 | T | TTCTTTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 474 | 0.0021 | 20 | c.-34 others(31): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3342 | chr11 | TogoVar |