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 | 237208936 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0042 | a0001c0042t0017 | a0001c0042t0017g0050 | 1 | 100 | 0.0100 | 24 | c.49- others(41): 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(17): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0014 | a0001c0014t0035 | a0001c0014t0035g0031 | 1 | 100 | 0.0100 | 24 | c.49- others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237346367 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0018 | 1 | 100 | 0.0100 | 24 | c.274 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0033 | 1 | 100 | 0.0100 | 24 | c.774 others(41): 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(17): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0047 | 1 | 100 | 0.0100 | 24 | c.100 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 12/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237473427 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0040 | a0001c0040t0039 | a0001c0040t0039g0095 | 1 | 100 | 0.0100 | 24 | c.170 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237473431 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03098.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002a0001c0011a0001c0014others(1): Show | a0001c0002t0001a0001c0011t0044a0001c0014t0035others(1): Show | a0001c0002t0001g0070 a0001c0011t0044g0054 a0001c0014t0035g0031 others(1): Show |
4 | 100 | 0.0400 | 24 | c.170 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237481108 | A | ATATGTAT others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0049 | a0001c0049t0009 | a0001c0049t0009g0044 | 1 | 100 | 0.0100 | 24 | c.170 others(45): 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(17): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0036 | a0001c0036t0003 | a0001c0036t0003g0038 | 1 | 100 | 0.0100 | 24 | c.182 others(40): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 18/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237546976 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02523.hp1 |
a0001a0003 | a0001c0004a0003c0021 | a0001c0004t0018a0003c0021t0001 | a0001c0004t0018g0047 a0003c0021t0001g0019 |
2 | 100 | 0.0200 | 24 | c.290 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 25/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237623355 | C | CTTTGTTT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02293.hp2 |
a0001 | a0001c0004a0001c0036 | a0001c0004t0020a0001c0036t0003 | a0001c0004t0020g0093 a0001c0036t0003g0038 |
2 | 100 | 0.0200 | 24 | c.591 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 38/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237623359 | G | GTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0094 | 1 | 100 | 0.0100 | 24 | c.591 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 38/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237623359 | G | GTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01099.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0012 a0001c0001t0003g0100 a0001c0002t0001g0075 others(14): Show |
17 | 100 | 0.1700 | 24 | c.591 others(41): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 38/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237631613 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0049 | a0001c0049t0009 | a0001c0049t0009g0044 | 1 | 100 | 0.0100 | 24 | c.655 others(40): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33310452 | G | GACACACA others(17): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 154 | 0.0065 | 24 | c.-59 others(33): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 514 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33379687 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0011 | a0011c0123 | a0011c0123t0002 | a0011c0123t0002g0055 | 1 | 154 | 0.0065 | 24 | c.51+ others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33379687 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0011 | a0011c0086 | a0011c0086t0002 | a0011c0086t0002g0110 | 1 | 154 | 0.0065 | 24 | c.51+ others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33432668 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0030 | a0005c0030t0001 | a0005c0030t0001g0007 | 1 | 154 | 0.0065 | 24 | c.52- others(41): 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(17): Show |
intron_variant | MODIFIER | HG02723.hp2 NA20300.hp2 |
a0003 | a0003c0043a0003c0107 | a0003c0043t0001a0003c0107t0002 | a0003c0043t0001g0106 a0003c0107t0002g0080 |
2 | 154 | 0.0130 | 24 | c.52- others(39): 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(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0093 | a0002c0093t0004 | a0002c0093t0004g0050 | 1 | 154 | 0.0065 | 24 | c.52- others(39): 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(17): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18964.hp2 NA19030.hp1 |
a0001a0005 | a0001c0013a0005c0008a0005c0040 | a0001c0013t0005a0005c0008t0001a0005c0040t0013 | a0001c0013t0005g0084 a0005c0008t0001g0019 a0005c0040t0013g0145 |
3 | 154 | 0.0195 | 24 | c.52- others(39): 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(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02897.hp1 |
a0007a0021 | a0007c0021a0021c0117 | a0007c0021t0001a0021c0117t0004 | a0007c0021t0001g0153 a0021c0117t0004g0122 |
2 | 154 | 0.0130 | 24 | c.561 others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664589 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0009 | a0009c0055 | a0009c0055t0005 | a0009c0055t0005g0061 | 1 | 154 | 0.0065 | 24 | c.561 others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33664589 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0026 | a0026c0118 | a0026c0118t0002 | a0026c0118t0002g0123 | 1 | 154 | 0.0065 | 24 | c.561 others(41): 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(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0098 | a0001c0098t0001 | a0001c0098t0001g0151 | 1 | 154 | 0.0065 | 24 | c.561 others(41): 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(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 NA19009.hp2 |
a0001a0002a0006 | a0001c0001a0002c0089a0006c0061 | a0001c0001t0001a0002c0089t0008a0006c0061t0001 | a0001c0001t0001g0044 a0002c0089t0008g0130 a0006c0061t0001g0022 |
3 | 154 | 0.0195 | 24 | c.561 others(41): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 36/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725180 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG02071.hp1 others(3): Show |
a0001a0004a0019 | a0001c0002a0004c0016a0004c0114others(1): Show | a0001c0002t0001a0001c0002t0007a0004c0016t0007others(2): Show | a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0007g0146 others(3): Show |
6 | 154 | 0.0390 | 24 | c.691 others(43): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789622 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0119 | 1 | 154 | 0.0065 | 24 | c.983 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0080 | a0002c0080t0002 | a0002c0080t0002g0060 | 1 | 154 | 0.0065 | 24 | c.983 others(43): 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(17): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02258.hp1 HG02559.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0010a0001c0046a0001c0047others(8): Show | a0001c0010t0001a0001c0046t0011a0001c0047t0001others(8): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0046t0011g0065 others(9): Show |
12 | 154 | 0.0779 | 24 | c.109 others(43): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 80/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100PBP_chr1_32812653_32863875 | 32824827 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG02109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0029a0003c0003t0003 | a0001c0001t0003g0022 a0001c0001t0003g0296 a0001c0001t0029g0297 others(1): Show |
5 | 340 | 0.0147 | 24 | c.-11 others(41): Show |
S100PBP | ENSG00000116497.18 | transcript | ENST00000373475.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S1PR1_chr1_101232019_101246518 | 101232706 | A | AAATAATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 24 | c.-45 others(35): Show |
S1PR1 | ENSG00000170989.10 | transcript | ENST00000305352.7 | protein_coding | 4312 | chr1 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251939 | T | TTTCCTTC others(17): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 NA18965.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0061 |
3 | 474 | 0.0063 | 24 | c.-33 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3272 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
5 | 474 | 0.0106 | 24 | c.-33 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(17): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 474 | 0.0021 | 24 | c.-33 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02071.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 474 | 0.0063 | 24 | c.-33 others(35): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAC3D1_chr11_65036210_65049828 | 65039029 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01361.hp1 others(15): Show |
a0001a0005a0009 | a0001c0002a0005c0008a0009c0009 | a0001c0002t0001a0005c0008t0001a0009c0009t0001 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 others(3): Show |
18 | 352 | 0.0511 | 24 | c.-22 others(35): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 2180 | chr11 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG02300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0127 |
3 | 354 | 0.0085 | 24 | c.-28 others(35): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 NA18994.hp2 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0017 a0001c0002t0005g0170 |
3 | 354 | 0.0085 | 24 | c.-28 others(35): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 a0001c0002t0002g0130 |
2 | 354 | 0.0057 | 24 | c.-28 others(35): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0004t0002 | a0001c0002t0004g0033 a0001c0004t0002g0176 |
2 | 354 | 0.0057 | 24 | c.-28 others(35): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0034 | 1 | 354 | 0.0028 | 24 | c.-28 others(35): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23399019 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0357 | 1 | 378 | 0.0027 | 24 | c.20+ others(41): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6347883 | T | TTTATTAT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0409 | 1 | 420 | 0.0024 | 24 | c.186 others(39): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
SAMD10_chr20_63969116_63984642 | 63976764 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 | 1 | 342 | 0.0029 | 24 | c.445 others(39): Show |
SAMD10 | ENSG00000130590.14 | transcript | ENST00000369886.8 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
SAMD14_chr17_50105040_50135160 | 50124771 | G | GCACGCGC others(17): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0140 a0001c0001t0005g0141 |
2 | 398 | 0.0050 | 24 | c.43+ others(37): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
SAMD14_chr17_50105040_50135160 | 50124771 | G | GCACGCGC others(17): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 398 | 0.0025 | 24 | c.43+ others(37): Show |
SAMD14 | ENSG00000167100.15 | transcript | ENST00000330175.9 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130153647 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01071.hp1 others(21): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0002a0009c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0039 others(20): Show |
24 | 338 | 0.0710 | 24 | c.102 others(43): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54724003 | T | TGGAAGGA others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 262 | 0.0038 | 24 | c.716 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54724007 | T | TGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02155.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0002g0248 others(5): Show |
8 | 262 | 0.0305 | 24 | c.716 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |