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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTTN_chr18_69998031_70210687 | 70176200 | G | GATGTATA others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 NA21309.hp1 |
a0003a0004 | a0003c0004a0004c0026 | a0003c0004t0006a0004c0026t0004 | a0003c0004t0006g0017 a0004c0026t0004g0143 |
2 | 156 | 0.0128 | 24 | c.147 others(41): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 11/48 | chr18 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46362923 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0263 a0001c0001t0012g0262 |
2 | 356 | 0.0056 | 24 | c.925 others(39): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46388303 | G | GAGGGAGG others(17): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0022 | 1 | 356 | 0.0028 | 24 | c.-14 others(35): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 1052 | chr13 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02602.hp1 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0113 others(1): Show |
4 | 376 | 0.0106 | 24 | c.891 others(41): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580241 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0223 | 1 | 376 | 0.0027 | 24 | c.891 others(39): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179605057 | T | TCAATTGA others(17): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0126 | 1 | 376 | 0.0027 | 24 | c.185 others(41): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY2_chr10_68338408_68412277 | 68366759 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0205 a0001c0002t0002g0221 a0001c0002t0002g0237 others(1): Show |
4 | 276 | 0.0145 | 24 | c.132 others(43): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68376489 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0153 |
2 | 276 | 0.0073 | 24 | c.132 others(41): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68387744 | C | CCCATAAT others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(54): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0022a0001c0002t0002a0001c0002t0040others(3): Show | a0001c0001t0022g0257 a0001c0001t0022g0258 a0001c0002t0002g0204 others(54): Show |
57 | 276 | 0.2065 | 24 | c.651 others(41): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70811684 | C | CACAAACA others(17): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0086 | 1 | 254 | 0.0039 | 24 | c.*50 others(35): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 3066 | chr4 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626091 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0012 | 1 | 202 | 0.0050 | 24 | c.-27 others(35): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2306 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626149 | T | TTGTCATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 202 | 0.0050 | 24 | c.-26 others(35): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2248 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626348 | T | TATATATG others(17): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0103 | 1 | 202 | 0.0050 | 24 | c.-24 others(35): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2049 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626574 | T | TATATATG others(17): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0201 | 1 | 202 | 0.0050 | 24 | c.-22 others(35): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1823 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626724 | G | GTGTCATA others(17): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 202 | 0.0050 | 24 | c.-21 others(35): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1673 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87652621 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0020others(5): Show | a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 others(8): Show |
11 | 202 | 0.0545 | 24 | c.238 others(41): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87715251 | T | TATTATAT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0055 others(18): Show |
21 | 202 | 0.1040 | 24 | c.458 others(41): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87715321 | A | ATAATTAT others(17): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0038 | 1 | 202 | 0.0050 | 24 | c.458 others(41): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87715369 | A | ATAATTAT others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01433.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0064 | a0001c0001t0008g0193 a0001c0001t0011g0198 a0001c0001t0064g0184 |
3 | 202 | 0.0149 | 24 | c.458 others(41): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 92038046 | C | CTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0032a0001c0001t0052others(3): Show | a0001c0001t0012g0008 a0001c0001t0012g0010 a0001c0001t0032g0009 others(5): Show |
8 | 132 | 0.0606 | 24 | c.89- others(41): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92060553 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0036 | 1 | 132 | 0.0076 | 24 | c.88+ others(41): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92060553 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0024 | 1 | 132 | 0.0076 | 24 | c.88+ others(41): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92060553 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0033 | 1 | 132 | 0.0076 | 24 | c.88+ others(41): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930270 | G | GTGTATGT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 170 | 0.0059 | 24 | c.59- others(41): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930270 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 170 | 0.0059 | 24 | c.59- others(41): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930270 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 170 | 0.0059 | 24 | c.59- others(41): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34967319 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 170 | 0.0059 | 24 | c.59- others(41): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35022895 | G | GAATAATA others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03834.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0001g0147 a0001c0001t0002g0012 others(1): Show |
4 | 170 | 0.0235 | 24 | c.58+ others(41): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45485693 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 178 | 0.0056 | 24 | c.686 others(41): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485695 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 NA18955.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0003g0069 others(3): Show |
6 | 178 | 0.0337 | 24 | c.686 others(41): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485697 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0136 a0001c0001t0002g0048 |
2 | 178 | 0.0112 | 24 | c.686 others(41): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485697 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0169 a0001c0001t0007g0118 |
2 | 178 | 0.0112 | 24 | c.686 others(41): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 480 | 0.0021 | 24 | c.535 others(41): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158517074 | T | TAGATAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01433.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0085 a0001c0001t0001g0138 |
3 | 210 | 0.0143 | 24 | c.-49 others(35): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 4807 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158527562 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 210 | 0.0048 | 24 | c.49+ others(39): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0194 |
2 | 210 | 0.0095 | 24 | c.49+ others(41): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158542109 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0088 others(6): Show |
9 | 210 | 0.0429 | 24 | c.49+ others(41): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158626144 | A | ATAGATAG others(17): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 210 | 0.0048 | 24 | c.756 others(39): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158626148 | A | ATAGATAG others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0001g0158 |
3 | 210 | 0.0143 | 24 | c.756 others(39): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31759375 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0108 a0001c0001t0001g0109 others(4): Show |
7 | 386 | 0.0181 | 24 | c.241 others(41): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31776102 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0279 | 1 | 386 | 0.0026 | 24 | c.641 others(39): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31805510 | G | GGTTTTTG others(17): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(33): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(33): Show |
36 | 386 | 0.0933 | 24 | c.*31 others(35): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2122 | chr13 | TogoVar | |||||||
RXFP3_chr5_33931386_33943918 | 33935020 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG01952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0005g0000 |
7 | 445 | 0.0157 | 24 | c.-17 others(35): Show |
RXFP3 | ENSG00000182631.7 | transcript | ENST00000330120.5 | protein_coding | 1365 | chr5 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134388286 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0134 a0001c0001t0003g0062 a0001c0001t0004g0128 others(23): Show |
27 | 232 | 0.1164 | 24 | c.29- others(41): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38450773 | C | CAATAAAT others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0025 | a0025c0112 | a0025c0112t0001 | a0025c0112t0001g0099 | 1 | 218 | 0.0046 | 24 | c.112 others(41): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502751 | T | TGGGGCAG others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 218 | 0.0046 | 24 | c.783 others(39): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502798 | C | CAGGGGCA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0014 | a0014c0127 | a0014c0127t0001 | a0014c0127t0001g0089 | 1 | 218 | 0.0046 | 24 | c.783 others(39): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502804 | C | CAGGGGCA others(17): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0217 | 1 | 218 | 0.0046 | 24 | c.783 others(39): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38502804 | C | CAGGGGGA others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03710.hp2 |
a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0177 a0010c0019t0001g0178 |
2 | 218 | 0.0092 | 24 | c.783 others(39): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38520693 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03453.hp2 |
a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0212 a0006c0009t0002g0213 |
2 | 218 | 0.0092 | 24 | c.102 others(45): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |