regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGS6_chr14_71927429_72571530 | 72506984 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0039 | 1 | 130 | 0.0077 | 19 | c.966 others(36): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RGS7_chr1_240770514_241362205 | 240793611 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 112 | 0.0089 | 19 | c.*6+ others(34): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 18/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 240842199 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0040others(11): Show | 14 | 112 | 0.1250 | 19 | c.610 others(38): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 9/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241071874 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 112 | 0.0089 | 19 | c.175 others(38): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 112 | 0.0089 | 19 | c.78+ others(36): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 112 | 0.0089 | 19 | c.78+ others(36): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 112 | 0.0089 | 19 | c.78+ others(36): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 112 | 0.0089 | 19 | c.78+ others(36): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
RGS9_chr17_65132370_65232703 | 65215545 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 222 | 0.0045 | 19 | c.140 others(38): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RGS9_chr17_65132370_65232703 | 65223752 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 222 | 0.0045 | 19 | c.140 others(38): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RGSL1_chr1_182445146_182565597 | 182498308 | T | TGTATATG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0043a0001c0001t0001g0048others(187): Show | 193 | 338 | 0.5710 | 19 | c.182 others(38): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGSL1_chr1_182445146_182565597 | 182498309 | G | GTATATGC others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0111a0001c0004t0001g0129 | 2 | 338 | 0.0059 | 19 | c.182 others(38): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGSL1_chr1_182445146_182565597 | 182510675 | A | AGGGGTAG others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 338 | 0.0030 | 19 | c.182 others(40): Show |
RGSL1 | ENSG00000121446.20 | transcript | ENST00000294854.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RHBDL3_chr17_32260832_32329659 | 32271387 | G | GATATTAT others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0277 | 1 | 306 | 0.0033 | 19 | c.135 others(36): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32276702 | G | GTACTCCG others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 306 | 0.0033 | 19 | c.136 others(36): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RHBDL3_chr17_32260832_32329659 | 32276835 | T | TTACTCCG others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0097a0001c0001t0001g0098others(70): Show | 75 | 306 | 0.2451 | 19 | c.136 others(36): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RHCG_chr15_89466407_89501583 | 89470496 | G | GTGTGTGT others(12): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 360 | 0.0028 | 19 | c.*13 others(30): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 910 | chr15 | TogoVar | ||||||
RHCG_chr15_89466407_89501583 | 89480176 | G | GGCCTTCA others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 360 | 0.0028 | 19 | c.670 others(32): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 4/10 | chr15 | TogoVar | ||||||
RHD_chr1_25267509_25335445 | 25312920 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02148.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0063a0001c0001t0001g0064others(5): Show | 8 | 214 | 0.0374 | 19 | c.107 others(38): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG03710.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0020 | 3 | 374 | 0.0080 | 19 | c.-23 others(30): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | ||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0017 | 2 | 374 | 0.0054 | 19 | c.-23 others(30): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | ||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0010 | 2 | 374 | 0.0054 | 19 | c.-23 others(30): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | ||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAATAT others(12): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 374 | 0.0027 | 19 | c.-23 others(30): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | ||||||
RHNO1_chr12_2872223_2894524 | 2883511 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229 | 1 | 426 | 0.0024 | 19 | c.-84 others(36): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RHNO1_chr12_2872223_2894524 | 2883511 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 426 | 0.0024 | 19 | c.-84 others(36): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RHNO1_chr12_2872223_2894524 | 2883512 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01516.hp2 NA18983.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187a0001c0002t0001g0214a0001c0002t0001g0215others(3): Show | 6 | 426 | 0.0141 | 19 | c.-84 others(36): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
RHOA_chr3_49354145_49416976 | 49367342 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 264 | 0.0038 | 19 | c.277 others(36): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
RHOA_chr3_49354145_49416976 | 49399054 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0233 | 2 | 264 | 0.0076 | 19 | c.-3+ others(36): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
RHOB_chr2_20442074_20454440 | 20442568 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03704.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 368 | 0.0109 | 19 | c.-48 others(30): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 4505 | chr2 | TogoVar | ||||||
RHOXF1_chrX_120104051_120120913 | 120109551 | T | TTTTATTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 320 | 0.0031 | 19 | c.445 others(34): Show |
RHOXF1 | ENSG00000101883.6 | transcript | ENST00000217999.3 | protein_coding | 2/2 | chrX | TogoVar | ||||||
RHO_chr3_129523639_129540344 | 129530533 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 404 | 0.0025 | 19 | c.362 others(34): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
RHPN2_chr19_32973592_33069888 | 33034025 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02976.hp2 others(2): Show |
a0001a0004 | a0001c0014a0001c0028a0004c0009 | a0001c0014t0005a0001c0028t0009a0004c0009t0002 | a0001c0014t0005g0012a0001c0028t0009g0166a0004c0009t0002g0179others(2): Show | 5 | 326 | 0.0153 | 19 | c.186 others(36): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 2/14 | chr19 | TogoVar | ||||||
RHPN2_chr19_32973592_33069888 | 33048725 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0168 | 1 | 326 | 0.0031 | 19 | c.70- others(34): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
RHPN2_chr19_32973592_33069888 | 33063758 | G | GGCACAAG others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0275a0001c0001t0001g0277a0001c0001t0001g0279others(54): Show | 57 | 326 | 0.1749 | 19 | c.69+ others(34): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
RHPN2_chr19_32973592_33069888 | 33063758 | G | GGCAGAAG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(180): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0011others(180): Show | 183 | 326 | 0.5614 | 19 | c.69+ others(34): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
RHPN2_chr19_32973592_33069888 | 33063758 | G | GGCAGAAG others(12): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0008 | 1 | 326 | 0.0031 | 19 | c.69+ others(34): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8104977 | C | CTTAAATA others(12): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0085a0001c0001t0009g0216a0001c0001t0009g0218others(3): Show | 6 | 370 | 0.0162 | 19 | c.*57 others(30): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1078 | chr11 | TogoVar | ||||||
RIC8B_chr12_106769682_106894316 | 106770243 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01516.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(1): Show | 4 | 318 | 0.0126 | 19 | c.-45 others(30): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 4438 | chr12 | TogoVar | ||||||
RIC8B_chr12_106769682_106894316 | 106853453 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 318 | 0.0031 | 19 | c.130 others(38): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RIF1_chr2_151404902_151487172 | 151408164 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0017 | a0017c0029 | a0017c0029t0033 | a0017c0029t0033g0260 | 1 | 380 | 0.0026 | 19 | c.-18 others(30): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 1737 | chr2 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32450905 | A | ACACCATA others(12): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0020others(4): Show | a0001c0001t0008a0001c0003t0008a0001c0020t0008others(4): Show | a0001c0001t0008g0072a0001c0001t0008g0153a0001c0003t0008g0051others(5): Show | 8 | 344 | 0.0233 | 19 | c.*61 others(30): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 4396 | chr9 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32504068 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0004a0002c0007t0001 | a0001c0001t0004g0206a0002c0007t0001g0295 | 2 | 344 | 0.0058 | 19 | c.107 others(36): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32508239 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01993.hp2 HG02451.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0013a0001c0002t0003 | a0001c0001t0011g0155a0001c0001t0013g0130a0001c0002t0003g0114 | 3 | 344 | 0.0087 | 19 | c.107 others(36): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32521139 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0302 | 1 | 344 | 0.0029 | 19 | c.106 others(36): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
RILPL1_chr12_123465054_123538719 | 123516033 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 210 | 0.0048 | 19 | c.460 others(36): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
RILPL1_chr12_123465054_123538719 | 123536907 | C | CTTTCTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02976.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0003a0002c0003t0010others(1): Show | a0002c0003t0002g0176a0002c0003t0002g0179a0002c0003t0003g0168others(2): Show | 5 | 210 | 0.0238 | 19 | c.-34 others(30): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3189 | chr12 | TogoVar | ||||||
RILPL1_chr12_123465054_123538719 | 123537024 | T | TCTCTCTC others(12): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0172 | 1 | 210 | 0.0048 | 19 | c.-35 others(30): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3306 | chr12 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1643238 | T | TCCCCGCC others(12): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00738.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0027a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(9): Show | 39 | 375 | 0.1040 | 19 | c.*31 others(30): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 2911 | chr17 | TogoVar | ||||||
RILP_chr17_1641150_1654866 | 1643241 | C | CCGCCCAC others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 375 | 0.0027 | 19 | c.*32 others(30): Show |
RILP | ENSG00000167705.12 | transcript | ENST00000301336.7 | protein_coding | 2908 | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130618024 | T | TTTACCAA others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02451.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0072a0001c0021t0001g0014 | 2 | 180 | 0.0111 | 19 | c.-21 others(40): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar |