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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGS7_chr1_240770514_241362205 | 241327036 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 18 | 0.0556 | 28 | c.78+ others(45): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241327036 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 18 | 0.0556 | 28 | c.78+ others(45): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS7_chr1_240770514_241362205 | 241327036 | A | AAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0002g0018 |
3 | 20 | 0.1500 | 28 | c.78+ others(45): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RGS9_chr17_65132370_65232703 | 65183061 | A | AATCTACC others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0067 |
3 | 51 | 0.0588 | 28 | c.654 others(45): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RGS9_chr17_65132370_65232703 | 65183061 | A | AATCTACC others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0103 others(5): Show |
8 | 56 | 0.1429 | 28 | c.654 others(45): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RGS9_chr17_65132370_65232703 | 65205740 | G | GTGATATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0217 others(1): Show |
4 | 220 | 0.0182 | 28 | c.120 others(47): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHBDF2_chr17_76465896_76506423 | 76486718 | T | TATAAATA others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01070.hp2 others(37): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0068 a0001c0001t0002g0127 a0001c0001t0002g0144 others(37): Show |
40 | 243 | 0.1646 | 28 | c.-22 others(43): Show |
RHBDF2 | ENSG00000129667.13 | transcript | ENST00000675367.1 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38912910 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 228 | 0.0044 | 28 | c.396 others(45): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38912910 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 228 | 0.0044 | 28 | c.396 others(45): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38920607 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0341 | 1 | 283 | 0.0035 | 28 | c.-12 others(47): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
RHCG_chr15_89466407_89501583 | 89486599 | A | AGAGTGTG others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 52 | 0.0192 | 28 | c.371 others(43): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RHD_chr1_25267509_25335445 | 25312920 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18968.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0166 |
3 | 15 | 0.2000 | 28 | c.107 others(47): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RHOA_chr3_49354145_49416976 | 49404431 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01515.hp1 HG03490.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0001g0162 others(7): Show |
10 | 211 | 0.0474 | 28 | c.-3+ others(43): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49404433 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02280.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0001g0223 others(2): Show |
5 | 16 | 0.3125 | 28 | c.-3+ others(43): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOB_chr2_20442074_20454440 | 20442568 | A | ATATTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 2 | 64 | 0.0313 | 28 | c.-48 others(39): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 4505 | chr2 | TogoVar | |||||||
RHOB_chr2_20442074_20454440 | 20442568 | A | ATTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01496.hp2 HG02080.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
11 | 73 | 0.1507 | 28 | c.-48 others(39): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 4505 | chr2 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706476 | A | ACCACACA others(21): Show |
intron_variant | MODIFIER | HG02004.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0026 |
2 | 420 | 0.0048 | 28 | c.-77 others(43): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706478 | A | ACCACACA others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02257.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0068 |
4 | 409 | 0.0098 | 28 | c.-77 others(43): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706480 | A | ACCACACA others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02056.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0073 a0001c0001t0001g0074 |
5 | 425 | 0.0118 | 28 | c.-77 others(43): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706482 | A | ACCACACA others(21): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 416 | 0.0024 | 28 | c.-77 others(43): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOF_chr12_121772754_121798688 | 121787605 | A | AAAAGTCA others(21): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 384 | 0.0026 | 28 | c.226 others(45): Show |
RHOF | ENSG00000139725.8 | transcript | ENST00000267205.7 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RHOT1_chr17_32137502_32230727 | 32149629 | A | ATGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 182 | 0.0055 | 28 | c.37+ others(43): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129530533 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 140 | 0.0071 | 28 | c.362 others(43): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129537327 | C | CTCTTTCT others(21): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 34 | 0.0294 | 28 | c.*36 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1984 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02723.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0005g0023 |
4 | 185 | 0.0216 | 28 | c.*48 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp2 HG01978.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0003g0025 others(6): Show |
36 | 217 | 0.1659 | 28 | c.*48 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 a0001c0001t0006g0031 |
2 | 183 | 0.0109 | 28 | c.*48 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01993.hp1 HG02135.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0037 others(7): Show |
20 | 201 | 0.0995 | 28 | c.*48 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129538525 | C | CCCTCCCT others(21): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0007 | 1 | 182 | 0.0055 | 28 | c.*48 others(39): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 3182 | chr3 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 32990137 | T | TAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02922.hp1 HG03041.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0004others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0012others(2): Show | a0001c0002t0001g0170 a0001c0005t0001g0046 a0001c0005t0012g0184 others(2): Show |
5 | 19 | 0.2632 | 28 | c.180 others(45): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 14/14 | chr19 | TogoVar | |||||||
RIC1_chr9_5624107_5781557 | 5673535 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01978.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008a0001c0027others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0147 others(7): Show |
10 | 64 | 0.1563 | 28 | c.253 others(47): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8122455 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 others(2): Show |
5 | 359 | 0.0139 | 28 | c.670 others(45): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 5/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8151585 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0004 | a0004c0005 | a0004c0005t0046 | a0004c0005t0046g0066 | 1 | 140 | 0.0071 | 28 | c.125 others(47): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC8B_chr12_106769682_106894316 | 106785785 | G | GTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | 191 | 0.0262 | 28 | c.132 others(45): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RICTOR_chr5_38932920_39079399 | 39075284 | T | TACACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 31 | 0.0323 | 28 | c.-90 others(37): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 886 | chr5 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 39075284 | T | TATACAGA others(21): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0177 | 1 | 31 | 0.0323 | 28 | c.-90 others(37): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 886 | chr5 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151426168 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0059 | 1 | 90 | 0.0111 | 28 | c.787 others(45): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32504038 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0006 | a0006c0013 | a0006c0013t0010 | a0006c0013t0010g0326 | 1 | 160 | 0.0063 | 28 | c.107 others(45): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536951 | T | TTTCTTTC others(21): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0138 a0001c0002t0001g0154 a0001c0002t0002g0146 others(1): Show |
4 | 193 | 0.0207 | 28 | c.-34 others(39): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3233 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130664415 | A | ACGCACGC others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00642.hp1 others(38): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 others(38): Show |
41 | 137 | 0.2993 | 28 | c.-35 others(49): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130664438 | C | CACGCACA others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0014 | a0014c0050 | a0014c0050t0001 | a0014c0050t0001g0104 | 1 | 178 | 0.0056 | 28 | c.-35 others(49): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130713223 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03195.hp1 |
a0011a0015 | a0011c0035a0015c0046 | a0011c0035t0001a0015c0046t0004 | a0011c0035t0001g0102 a0015c0046t0004g0167 |
2 | 166 | 0.0120 | 28 | c.-35 others(47): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130713227 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02683.hp1 HG02738.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0098 a0001c0003t0001g0163 a0001c0005t0001g0099 others(1): Show |
4 | 171 | 0.0234 | 28 | c.-35 others(47): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130713231 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02809.hp1 NA18964.hp2 others(1): Show |
a0001a0013 | a0001c0001a0001c0019a0013c0038 | a0001c0001t0001a0001c0001t0002a0001c0019t0001others(1): Show | a0001c0001t0001g0092 a0001c0001t0002g0091 a0001c0019t0001g0089 others(1): Show |
4 | 175 | 0.0229 | 28 | c.-35 others(47): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21542037 | T | TTTCCTTC others(21): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01123.hp1 others(18): Show |
a0003a0005a0009others(8): Show | a0003c0007a0005c0003a0009c0008others(8): Show | a0003c0007t0001a0005c0003t0001a0005c0003t0005others(9): Show | a0003c0007t0001g0000 a0005c0003t0001g0000 a0005c0003t0005g0000 others(9): Show |
21 | 108 | 0.1944 | 28 | c.*40 others(39): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 3628 | chr22 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21551866 | A | AACACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 NA18983.hp1 |
a0004a0011 | a0004c0006a0011c0045 | a0004c0006t0002a0011c0045t0001 | a0004c0006t0002g0000 a0011c0045t0001g0000 |
2 | 43 | 0.0465 | 28 | c.-89 others(37): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 406 | chr22 | TogoVar | |||||||
RIMKLA_chr1_42375792_42429232 | 42385844 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 193 | 0.0052 | 28 | c.163 others(45): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8757470 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0284 | 1 | 253 | 0.0040 | 28 | c.697 others(45): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMOC1_chr5_41899344_41926636 | 41901253 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG02135.hp2 HG02293.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 others(3): Show |
10 | 14 | 0.7143 | 28 | c.-31 others(39): Show |
RIMOC1 | ENSG00000205765.10 | transcript | ENST00000381647.7 | protein_coding | 3090 | chr5 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 71890405 | T | TGTGCGTG others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01243.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(15): Show |
18 | 79 | 0.2278 | 28 | c.164 others(45): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |