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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUNDC3B_chr7_87623398_87837296 | 87626420 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0041a0001c0001t0044others(1): Show | a0001c0001t0013g0030 a0001c0001t0013g0171 a0001c0001t0041g0183 others(2): Show |
5 | 202 | 0.0248 | 11 | c.-24 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1977 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626426 | T | TATATATG others(4): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0125 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1971 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626429 | G | GTGTGTCA others(4): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0160 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1968 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626445 | T | TTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0011 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1952 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626474 | T | TATATATG others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01169.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0046 a0001c0001t0006g0104 a0001c0001t0007g0090 others(2): Show |
5 | 202 | 0.0248 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1923 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626481 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0001 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1916 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626481 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01358.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(11): Show | a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0163 others(17): Show |
20 | 202 | 0.0990 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1916 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626511 | T | TATATATG others(4): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1886 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626518 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0001 | 1 | 202 | 0.0050 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1879 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626518 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025 | a0001c0001t0024g0003 a0001c0001t0025g0004 |
2 | 202 | 0.0099 | 11 | c.-23 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1879 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626548 | T | TATATATG others(4): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0035 | 1 | 202 | 0.0050 | 11 | c.-22 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1849 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626737 | G | GTGTCATA others(4): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02258.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0082 | a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0082g0023 |
3 | 202 | 0.0149 | 11 | c.-20 others(22): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1660 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87702142 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0159 | 1 | 202 | 0.0050 | 11 | c.372 others(28): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34823430 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0010g0001 |
3 | 170 | 0.0177 | 11 | c.805 others(30): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34846194 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0002 | 1 | 170 | 0.0059 | 11 | c.614 others(30): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34874610 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 170 | 0.0059 | 11 | c.508 others(28): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 5/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34909588 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0007t0001 | a0001c0001t0005g0125 a0001c0007t0001g0161 |
2 | 170 | 0.0118 | 11 | c.59- others(28): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34967319 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0087 a0001c0001t0022g0023 |
2 | 170 | 0.0118 | 11 | c.59- others(28): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34982395 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0049 | 1 | 170 | 0.0059 | 11 | c.58+ others(28): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45348512 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02647.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0062 others(6): Show |
9 | 178 | 0.0506 | 11 | c.58+ others(28): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45399349 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0039 a0001c0002t0006g0015 a0001c0002t0006g0016 |
3 | 178 | 0.0169 | 11 | c.59- others(28): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35503712 | T | TTCCCAAT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(307): Show |
319 | 322 | 0.9907 | 11 | c.-93 others(30): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35515999 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02083.hp1 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0177 a0001c0001t0001g0183 others(1): Show |
4 | 322 | 0.0124 | 11 | c.-93 others(30): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RWDD2A_chr6_83188357_83203935 | 83191958 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01517.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(2): Show |
23 | 432 | 0.0532 | 11 | c.-16 others(22): Show |
RWDD2A | ENSG00000013392.8 | transcript | ENST00000369724.5 | protein_coding | 1398 | chr6 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29003605 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016 | a0001c0001t0007g0244 a0001c0001t0016g0245 |
2 | 438 | 0.0046 | 11 | c.*28 others(22): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 778 | chr21 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183638494 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00673.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0003g0005 others(50): Show |
54 | 480 | 0.1125 | 11 | c.*29 others(22): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 1140 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183638510 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0071 | 1 | 480 | 0.0021 | 11 | c.*29 others(22): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 1124 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183643415 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02080.hp1 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0180 a0002c0002t0001g0046 a0002c0002t0001g0076 others(10): Show |
14 | 480 | 0.0292 | 11 | c.535 others(28): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158527564 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02129.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 |
2 | 210 | 0.0095 | 11 | c.49+ others(26): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158527564 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | 210 | 0.0095 | 11 | c.49+ others(26): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158527564 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 210 | 0.0048 | 11 | c.49+ others(26): 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(4): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 210 | 0.0048 | 11 | c.49+ others(28): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158562523 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02818.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0105 a0001c0001t0001g0204 others(2): Show |
5 | 210 | 0.0238 | 11 | c.50- others(28): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158623502 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0004 |
2 | 210 | 0.0095 | 11 | c.756 others(28): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31776096 | C | CCTTCCTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0240 a0001c0001t0004g0243 a0001c0001t0004g0244 |
3 | 386 | 0.0078 | 11 | c.641 others(26): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 7/17 | chr13 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31776102 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(43): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0106 others(42): Show |
46 | 386 | 0.1192 | 11 | c.641 others(26): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31783983 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 a0001c0001t0001g0292 |
2 | 386 | 0.0052 | 11 | c.929 others(28): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134348795 | T | TCATGTAC others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03492.hp1 HG03927.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0175 a0001c0001t0001g0178 others(7): Show |
10 | 232 | 0.0431 | 11 | c.28+ others(28): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134348795 | T | TCATGTGC others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00642.hp1 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0103 others(119): Show |
126 | 232 | 0.5431 | 11 | c.28+ others(28): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RYK_chr3_134152133_134255859 | 134216792 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 a0001c0001t0004g0142 |
2 | 376 | 0.0053 | 11 | c.355 others(28): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134249917 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 376 | 0.0027 | 11 | c.232 others(26): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134249917 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0003g0330 |
2 | 376 | 0.0053 | 11 | c.232 others(26): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38551025 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp2 |
a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0098 a0004c0013t0001g0188 |
2 | 218 | 0.0092 | 11 | c.122 others(32): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590386 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0049 | 1 | 218 | 0.0046 | 11 | c.*29 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2823 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590388 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 218 | 0.0046 | 11 | c.*29 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2825 | chr19 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38590390 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0099 | a0001c0099t0001 | a0001c0099t0001g0066 | 1 | 218 | 0.0046 | 11 | c.*29 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2827 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237061276 | C | CATCTATC others(4): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03704.hp1 |
a0001 | a0001c0003a0001c0032 | a0001c0003t0003a0001c0032t0005 | a0001c0003t0003g0046 a0001c0032t0005g0098 |
2 | 100 | 0.0200 | 11 | c.48+ others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237107519 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02451.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0007a0001c0003t0004a0001c0005t0006others(4): Show | a0001c0001t0007g0082 a0001c0003t0004g0060 a0001c0005t0006g0029 others(4): Show |
7 | 100 | 0.0700 | 11 | c.48+ others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237148521 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0029 | a0001c0029t0008 | a0001c0029t0008g0090 | 1 | 100 | 0.0100 | 11 | c.48+ others(30): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237148521 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0097 | 1 | 100 | 0.0100 | 11 | c.48+ others(30): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar |