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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGS8_chr1_182636818_182689587 | 182651806 | GGGAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0040 a0001c0001t0022g0205 |
2 | 298 | 0.0067 | -18 | c.194 others(35): Show |
RGS8 | ENSG00000135824.13 | transcript | ENST00000515211.2 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RHBDF1_chr16_53059_77631 | 75341 | AGCTACCC others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 396 | 0.0025 | -18 | c.-28 others(29): Show |
RHBDF1 | ENSG00000007384.15 | transcript | ENST00000262316.10 | protein_coding | 2711 | chr16 | TogoVar | |||||||
RHBDF2_chr17_76465896_76506423 | 76481986 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 362 | 0.0028 | -18 | c.-21 others(33): Show |
RHBDF2 | ENSG00000129667.13 | transcript | ENST00000675367.1 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RHBDF2_chr17_76465896_76506423 | 76486077 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0021 a0001c0001t0003g0235 a0001c0001t0003g0247 others(1): Show |
5 | 33 | 0.1515 | -18 | c.-22 others(35): Show |
RHBDF2 | ENSG00000129667.13 | transcript | ENST00000675367.1 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38882299 | AATATATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 304 | 0.0033 | -18 | c.*41 others(29): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3507 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38882337 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0169 a0001c0001t0001g0171 |
3 | 360 | 0.0083 | -18 | c.*41 others(29): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3469 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38883324 | CACACACA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03098.hp1 HG03225.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0349 a0002c0002t0004g0350 a0002c0002t0004g0351 others(1): Show |
4 | 362 | 0.0110 | -18 | c.*31 others(29): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 2482 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38911602 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02040.hp2 HG02129.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0005 a0001c0001t0001g0129 a0001c0001t0001g0135 others(15): Show |
19 | 141 | 0.1348 | -18 | c.396 others(33): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38911629 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02818.hp1 HG03098.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0147 a0002c0002t0004g0349 a0002c0002t0004g0350 others(2): Show |
5 | 362 | 0.0138 | -18 | c.396 others(33): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38912900 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 a0002c0002t0002g0267 |
2 | 286 | 0.0070 | -18 | c.396 others(35): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38912902 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18983.hp2 NA19002.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 a0002c0002t0002g0286 a0002c0002t0002g0344 |
3 | 358 | 0.0084 | -18 | c.396 others(35): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379485 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA18747.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0105 a0004c0004t0001g0009 |
2 | 303 | 0.0066 | -18 | c.107 others(37): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379487 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02135.hp1 HG02738.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0152 a0002c0002t0001g0208 others(3): Show |
6 | 281 | 0.0214 | -18 | c.107 others(37): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379489 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18994.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0240 a0004c0004t0001g0134 |
2 | 310 | 0.0065 | -18 | c.107 others(37): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCG_chr15_89466407_89501583 | 89470496 | GGTGTGTG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 28 | 0.0357 | -18 | c.*13 others(29): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 910 | chr15 | TogoVar | |||||||
RHCG_chr15_89466407_89501583 | 89486583 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0061 |
3 | 358 | 0.0084 | -18 | c.371 others(33): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RHD_chr1_25267509_25335445 | 25311574 | CCAGAGGC others(11): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 212 | 0.0047 | -18 | c.107 others(37): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHD_chr1_25267509_25335445 | 25312920 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 13 | 0.0769 | -18 | c.107 others(37): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHEBL1_chr12_49059676_49074979 | 49069573 | TCCAATCC others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(29): Show |
166 | 372 | 0.4462 | -18 | c.52+ others(31): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
RHNO1_chr12_2872223_2894524 | 2883497 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19081.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0004 a0001c0002t0006g0102 |
2 | 410 | 0.0049 | -18 | c.-84 others(35): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RHNO1_chr12_2872223_2894524 | 2883499 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02647.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0043 |
5 | 385 | 0.0130 | -18 | c.-84 others(35): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RHNO1_chr12_2872223_2894524 | 2883501 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG03704.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0014 |
3 | 396 | 0.0076 | -18 | c.-84 others(35): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RHOA_chr3_49354145_49416976 | 49380674 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 41 | 0.0244 | -18 | c.-2- others(33): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49387117 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 |
2 | 8 | 0.2500 | -18 | c.-2- others(35): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49393672 | CTCTCTGT others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 others(13): Show |
16 | 206 | 0.0777 | -18 | c.-2- others(35): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49399054 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA19012.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0195 |
2 | 36 | 0.0556 | -18 | c.-3+ others(35): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOBTB1_chr10_60864438_60949185 | 60912185 | AAATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02602.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0031 a0001c0001t0002g0263 a0001c0001t0002g0264 others(5): Show |
8 | 314 | 0.0255 | -18 | c.-10 others(33): Show |
RHOBTB1 | ENSG00000072422.17 | transcript | ENST00000337910.10 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
RHOBTB2_chr8_22994548_23025199 | 22996494 | CTGGTGTG others(11): Show |
C | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0012 | 1 | 354 | 0.0028 | -18 | c.-36 others(29): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 3053 | chr8 | TogoVar | |||||||
RHOBTB2_chr8_22994548_23025199 | 22996496 | GGTGTGTG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01978.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0002g0001 others(13): Show |
17 | 48 | 0.3542 | -18 | c.-36 others(29): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 3051 | chr8 | TogoVar | |||||||
RHOBTB2_chr8_22994548_23025199 | 22996551 | GTGTGTGT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 | 1 | 355 | 0.0028 | -18 | c.-35 others(29): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 2996 | chr8 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706462 | CACCACAC others(11): Show |
C | intron_variant | MODIFIER | NA18962.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 352 | 0.0057 | -18 | c.-77 others(33): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706464 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA18951.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 358 | 0.0112 | -18 | c.-77 others(33): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOH_chr4_40192031_40251967 | 40238171 | AGGGGGCA others(11): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18968.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063 | a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 others(2): Show |
5 | 314 | 0.0159 | -18 | c.-33 others(37): Show |
RHOH | ENSG00000168421.14 | transcript | ENST00000381799.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHOH_chr4_40192031_40251967 | 40242945 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0033a0001c0001t0035others(5): Show | a0001c0001t0032g0130 a0001c0001t0032g0280 a0001c0001t0033g0188 others(6): Show |
9 | 21 | 0.4286 | -18 | c.-21 others(35): Show |
RHOH | ENSG00000168421.14 | transcript | ENST00000381799.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32142451 | CCCGCCGC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02572.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0266 others(2): Show |
5 | 35 | 0.1429 | -18 | c.-24 others(27): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 50 | chr17 | TogoVar | |||||||
RHOT1_chr17_32137502_32230727 | 32149591 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 196 | 0.0051 | -18 | c.37+ others(33): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHOV_chr15_40867214_40879234 | 40878639 | GCGCACAC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0007g0017 |
5 | 318 | 0.0157 | -18 | c.-45 others(29): Show |
RHOV | ENSG00000104140.7 | transcript | ENST00000220507.5 | protein_coding | 4406 | chr15 | TogoVar | |||||||
RHOXF2B_chrX_120067264_120082690 | 120072457 | TGCAAAAT others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 213 | 0.0047 | -18 | c.*41 others(25): Show |
RHOXF2B | ENSG00000203989.5 | transcript | ENST00000371402.5 | protein_coding | 4/4 | 41 | chrX | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129537315 | TTTTCTTT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 400 | 0.0050 | -18 | c.*35 others(29): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1972 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129537351 | TTCTTTCT others(11): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -18 | c.*36 others(29): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 2008 | chr3 | TogoVar | |||||||
RIBC2_chr22_45408693_45437509 | 45410242 | AACCTAAG others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 422 | 0.0024 | -18 | c.-36 others(29): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3450 | chr22 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 39075336 | CACACACA others(11): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 336 | 0.0030 | -18 | c.-97 others(27): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 938 | chr5 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130441401 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0043 | 1 | 76 | 0.0132 | -18 | c.150 others(35): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 11/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130535720 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01256.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0021 | a0001c0001t0001a0001c0003t0001a0001c0021t0001 | a0001c0001t0001g0113 a0001c0003t0001g0010 a0001c0003t0001g0077 others(1): Show |
4 | 178 | 0.0225 | -18 | c.-21 others(39): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130584297 | ACATCACC others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(75): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(75): Show |
78 | 178 | 0.4382 | -18 | c.-21 others(39): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21541225 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01243.hp2 others(12): Show |
a0001a0010a0011others(3): Show | a0001c0002a0001c0021a0001c0048others(6): Show | a0001c0002t0001a0001c0021t0001a0001c0048t0001others(6): Show | a0001c0002t0001g0000 a0001c0021t0001g0000 a0001c0048t0001g0000 others(6): Show |
15 | 36 | 0.4167 | -18 | c.*48 others(29): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 4440 | chr22 | TogoVar | |||||||
RIMKLA_chr1_42375792_42429232 | 42385827 | CCTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0112 | 1 | 202 | 0.0050 | -18 | c.163 others(35): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8718663 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0242 a0001c0002t0006g0243 a0001c0002t0006g0248 others(4): Show |
7 | 270 | 0.0259 | -18 | c.175 others(35): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8718667 | ATATGTGT others(11): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 166 | 0.0060 | -18 | c.175 others(35): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 71886598 | CGCCCCAG others(11): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0118 | 1 | 100 | 0.0100 | -18 | c.-41 others(27): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 1/34 | 401 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |