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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTN1_chr14_59590983_59875776 | 59618069 | C | CCTCTAAG | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(30): Show |
33 | 170 | 0.1941 | 7 | c.176 others(28): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 3/8 | chr14 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45482011 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01257.hp2 HG01346.hp1 others(12): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0010t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(8): Show |
15 | 329 | 0.0456 | 7 | c.*36 others(18): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 3282 | chr19 | TogoVar | |||||||
RTN3_chr11_63676500_63764882 | 63697253 | C | CACGAATG | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02717.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0012 others(6): Show |
9 | 168 | 0.0536 | 7 | c.143 others(24): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1961773 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0045others(5): Show | a0001c0001t0001g0173 a0001c0001t0011g0217 a0001c0001t0045g0221 others(5): Show |
8 | 87 | 0.0920 | 7 | c.14- others(24): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1969058 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0126 others(77): Show |
80 | 162 | 0.4938 | 7 | c.14- others(24): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1974040 | G | GAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0055a0001c0001t0090others(2): Show | a0001c0001t0011g0217 a0001c0001t0055g0379 a0001c0001t0055g0380 others(3): Show |
6 | 139 | 0.0432 | 7 | c.14- others(24): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241877368 | T | TCAGGACA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(146): Show |
a0001a0002a0004others(9): Show | a0001c0023a0001c0025a0002c0002others(10): Show | a0001c0023t0005a0001c0025t0005a0002c0002t0001others(21): Show | a0001c0023t0005g0022 a0001c0025t0005g0005 a0002c0002t0001g0002 others(31): Show |
149 | 364 | 0.4093 | 7 | c.*40 others(18): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3546 | chr2 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70184703 | G | GTTTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02040.hp1 others(6): Show |
a0002 | a0002c0001a0002c0003 | a0002c0001t0007a0002c0003t0001 | a0002c0001t0007g0059 a0002c0003t0001g0049 a0002c0003t0001g0052 others(6): Show |
9 | 111 | 0.0811 | 7 | c.130 others(26): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 10/48 | chr18 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197707005 | C | CTCTACTA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp1 others(12): Show |
a0002a0014 | a0002c0003a0014c0019 | a0002c0003t0003a0002c0003t0045a0002c0003t0046others(1): Show | a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 others(8): Show |
15 | 184 | 0.0815 | 7 | c.220 others(24): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 2/19 | chr3 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197730885 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02572.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0046 | a0002c0003t0003g0003 a0002c0003t0003g0009 a0002c0003t0003g0011 others(2): Show |
6 | 57 | 0.1053 | 7 | c.65+ others(22): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179552164 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(55): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 others(55): Show |
58 | 84 | 0.6905 | 7 | c.310 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179552171 | A | AAAAAAAC | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 others(4): Show |
7 | 374 | 0.0187 | 7 | c.310 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179561700 | T | TTTTTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0138 a0001c0001t0002g0358 a0001c0001t0004g0192 others(48): Show |
51 | 318 | 0.1604 | 7 | c.485 others(22): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTTCT | intron_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0267 others(6): Show |
9 | 56 | 0.1607 | 7 | c.891 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0265 a0001c0001t0002g0358 a0001c0002t0002g0139 others(6): Show |
9 | 56 | 0.1607 | 7 | c.891 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580246 | T | TATATATA | intron_variant | MODIFIER | HG03195.hp2 HG03471.hp1 HG06807.hp2 |
a0001a0005 | a0001c0002a0001c0014a0005c0009 | a0001c0002t0002a0001c0014t0002a0005c0009t0002 | a0001c0002t0002g0221 a0001c0014t0002g0196 a0005c0009t0002g0201 |
3 | 308 | 0.0097 | 7 | c.891 others(22): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | chr5 | TogoVar | |||||||
RUFY2_chr10_68338408_68412277 | 68402885 | T | TCCCAGAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(155): Show |
158 | 274 | 0.5766 | 7 | c.179 others(24): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70718875 | C | CTGTAATA | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0034 | a0001c0001t0014g0223 a0001c0001t0014g0225 a0001c0001t0014g0226 others(2): Show |
5 | 252 | 0.0198 | 7 | c.-36 others(18): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 3088 | chr4 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70809218 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01515.hp2 HG01517.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021a0001c0001t0026others(1): Show | a0001c0001t0011g0228 a0001c0001t0011g0230 a0001c0001t0011g0231 others(6): Show |
9 | 182 | 0.0495 | 7 | c.*25 others(18): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 600 | chr4 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626099 | T | TATATATA | upstream_gene_variant | MODIFIER | NA18988.hp2 NA18990.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0045 | a0001c0001t0014g0155 a0001c0001t0014g0158 a0001c0001t0045g0160 |
3 | 180 | 0.0167 | 7 | c.-27 others(18): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2298 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626775 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0072 | a0001c0001t0024g0004 a0001c0001t0025g0005 a0001c0001t0072g0009 |
3 | 200 | 0.0150 | 7 | c.-20 others(18): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1622 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87702142 | C | CAAAAAAA | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0022others(3): Show | a0001c0001t0002g0168 a0001c0001t0012g0177 a0001c0001t0022g0181 others(3): Show |
6 | 49 | 0.1224 | 7 | c.372 others(24): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87720002 | A | AAAGAAAG | intron_variant | MODIFIER | HG02129.hp1 HG02258.hp2 NA19005.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0035others(1): Show | a0001c0001t0020g0033 a0001c0001t0020g0035 a0001c0001t0021g0028 others(3): Show |
6 | 145 | 0.0414 | 7 | c.458 others(24): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34895972 | T | TAAGGTAG | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01071.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0025 others(43): Show |
46 | 168 | 0.2738 | 7 | c.59- others(22): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45458022 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01167.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0097 others(20): Show |
23 | 115 | 0.2000 | 7 | c.685 others(26): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495048 | T | TATTATAC | intron_variant | MODIFIER | HG01175.hp1 HG01952.hp2 HG02257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 others(11): Show |
14 | 320 | 0.0438 | 7 | c.-93 others(24): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RWDD4_chr4_183634635_183664185 | 183638494 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01255.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0002g0224 a0001c0001t0002g0340 a0001c0001t0003g0019 others(30): Show |
34 | 250 | 0.1360 | 7 | c.*29 others(18): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 1140 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183648187 | T | TGAGCCGA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(145): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0086 a0001c0001t0002g0198 a0001c0001t0002g0277 others(128): Show |
148 | 478 | 0.3096 | 7 | c.481 others(24): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
RWDD4_chr4_183634635_183664185 | 183652361 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01891.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0003a0001c0004t0002a0001c0004t0006others(4): Show | a0001c0001t0003g0045 a0001c0001t0003g0289 a0001c0004t0002g0423 others(9): Show |
12 | 138 | 0.0870 | 7 | c.106 others(24): Show |
RWDD4 | ENSG00000182552.15 | transcript | ENST00000326397.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158562523 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0041 others(40): Show |
43 | 58 | 0.7414 | 7 | c.50- others(24): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31776102 | T | TTTCTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(37): Show |
41 | 115 | 0.3565 | 7 | c.641 others(22): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31783983 | A | ATTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0144 others(7): Show |
10 | 37 | 0.2703 | 7 | c.929 others(24): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134437975 | G | GCGCTCCT | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0022 | a0001c0001t0009g0098 a0001c0001t0009g0130 a0001c0001t0009g0137 others(7): Show |
10 | 230 | 0.0435 | 7 | c.*13 others(18): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 10/10 | 1370 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0005g0004 a0001c0001t0005g0144 a0001c0001t0005g0147 others(11): Show |
14 | 18 | 0.7778 | 7 | c.*77 others(18): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134199989 | T | TCTAGCTA | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 |
3 | 374 | 0.0080 | 7 | c.788 others(24): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134199991 | A | AGGTTTGT | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02809.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 |
3 | 374 | 0.0080 | 7 | c.788 others(24): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
RYK_chr3_134152133_134255859 | 134216792 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00733.hp1 others(17): Show |
a0001a0003a0010 | a0001c0001a0001c0016a0003c0004others(1): Show | a0001c0001t0001a0001c0016t0001a0003c0004t0005others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(17): Show |
20 | 112 | 0.1786 | 7 | c.355 others(24): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
RYR1_chr19_38428691_38592564 | 38438616 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG03942.hp2 others(6): Show |
a0001a0002a0033 | a0001c0002a0001c0004a0001c0017others(6): Show | a0001c0002t0001a0001c0004t0001a0001c0017t0001others(6): Show | a0001c0002t0001g0065 a0001c0004t0001g0069 a0001c0017t0001g0048 others(6): Show |
9 | 40 | 0.2250 | 7 | c.46- others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38530987 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(4): Show |
a0001a0004a0008others(2): Show | a0001c0035a0001c0062a0001c0067others(4): Show | a0001c0035t0001a0001c0062t0001a0001c0067t0001others(4): Show | a0001c0035t0001g0063 a0001c0062t0001g0083 a0001c0067t0001g0192 others(4): Show |
7 | 139 | 0.0504 | 7 | c.111 others(28): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38590388 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03834.hp2 |
a0001a0024 | a0001c0003a0024c0074 | a0001c0003t0002a0024c0074t0001 | a0001c0003t0002g0214 a0024c0074t0001g0032 |
2 | 165 | 0.0121 | 7 | c.*29 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2825 | chr19 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237061268 | C | CCATCTAT | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01169.hp1 |
a0001a0002a0003 | a0001c0023a0002c0012a0003c0021 | a0001c0023t0003a0002c0012t0002a0003c0021t0001 | a0001c0023t0003g0071 a0002c0012t0002g0072 a0003c0021t0001g0019 |
3 | 100 | 0.0300 | 7 | c.48+ others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237133924 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG02055.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0004t0027others(7): Show | a0001c0001t0001g0099 a0001c0001t0015g0069 a0001c0004t0027g0005 others(7): Show |
10 | 28 | 0.3571 | 7 | c.48+ others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237148521 | A | ATATATTT | intron_variant | MODIFIER | HG02257.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0004a0001c0015t0006 | a0001c0001t0004g0036 a0001c0015t0006g0034 |
2 | 93 | 0.0215 | 7 | c.48+ others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237187443 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00741.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(24): Show | a0001c0001t0001g0012 a0001c0001t0003g0100 a0001c0002t0001g0075 others(25): Show |
28 | 35 | 0.8000 | 7 | c.49- others(24): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237269042 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0003a0001c0004t0001a0001c0008t0024others(6): Show | a0001c0001t0003g0023 a0001c0004t0001g0058 a0001c0008t0024g0081 others(6): Show |
9 | 41 | 0.2195 | 7 | c.49- others(22): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237580155 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0028others(23): Show | a0001c0001t0003g0023 a0001c0001t0004g0036 a0001c0002t0028g0033 others(23): Show |
26 | 65 | 0.4000 | 7 | c.359 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237584647 | C | CTGTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01074.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0004a0001c0001t0007a0001c0002t0002others(22): Show | a0001c0001t0004g0036 a0001c0001t0007g0082 a0001c0002t0002g0022 others(23): Show |
26 | 100 | 0.2600 | 7 | c.359 others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 29/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237744349 | T | TAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01074.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0003g0088 a0001c0001t0004g0036 a0001c0001t0006g0025 others(15): Show |
18 | 95 | 0.1895 | 7 | c.111 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 80/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237750656 | C | CCCAGTCA | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG03704.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0006a0001c0001t0007a0001c0003t0003others(4): Show | a0001c0001t0006g0025 a0001c0001t0007g0082 a0001c0003t0003g0046 others(4): Show |
7 | 100 | 0.0700 | 7 | c.111 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 80/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237775548 | G | GTATTGCT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01243.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0038a0001c0002t0001others(13): Show | a0001c0001t0001g0099 a0001c0001t0038g0001 a0001c0002t0001g0070 others(13): Show |
16 | 95 | 0.1684 | 7 | c.117 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 87/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |