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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 |
19 | 374 | 0.0508 | 15 | c.-23 others(26): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | |||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00673.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0058 |
17 | 374 | 0.0455 | 15 | c.-23 others(26): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | |||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAAAAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 374 | 0.0027 | 15 | c.-23 others(26): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | |||||||
RHEBL1_chr12_49059676_49074979 | 49072126 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA18967.hp2 NA18970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 374 | 0.0134 | 15 | c.-23 others(26): Show |
RHEBL1 | ENSG00000167550.11 | transcript | ENST00000301068.11 | protein_coding | 2148 | chr12 | TogoVar | |||||||
RHNO1_chr12_2872223_2894524 | 2874581 | C | CATAGAAG others(8): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 426 | 0.0024 | 15 | c.-27 others(26): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 2641 | chr12 | TogoVar | |||||||
RHNO1_chr12_2872223_2894524 | 2883509 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0184 a0001c0002t0007g0185 |
2 | 426 | 0.0047 | 15 | c.-84 others(32): 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(8): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0252 | 1 | 426 | 0.0024 | 15 | c.-84 others(32): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RHNO1_chr12_2872223_2894524 | 2883511 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0007 | a0005c0007t0016 | a0005c0007t0016g0183 | 1 | 426 | 0.0024 | 15 | c.-84 others(32): 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(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(9): Show |
13 | 426 | 0.0305 | 15 | c.-84 others(32): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49367342 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01192.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0146 others(14): Show |
17 | 264 | 0.0644 | 15 | c.277 others(32): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49387117 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 264 | 0.0038 | 15 | c.-2- others(32): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOA_chr3_49354145_49416976 | 49401041 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 others(10): Show |
13 | 264 | 0.0492 | 15 | c.-3+ others(32): Show |
RHOA | ENSG00000067560.14 | transcript | ENST00000418115.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHOB_chr2_20442074_20454440 | 20442568 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0000 a0001c0001t0028g0000 |
5 | 368 | 0.0136 | 15 | c.-48 others(26): Show |
RHOB | ENSG00000143878.10 | transcript | ENST00000272233.6 | protein_coding | 4505 | chr2 | TogoVar | |||||||
RHOD_chr11_67051847_67077017 | 67058027 | C | CTCAGTGT others(8): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 394 | 0.0025 | 15 | c.132 others(30): Show |
RHOD | ENSG00000173156.7 | transcript | ENST00000308831.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RHOG_chr11_3821978_3845959 | 3836902 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19081.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0213 |
2 | 468 | 0.0043 | 15 | c.-69 others(32): Show |
RHOG | ENSG00000177105.10 | transcript | ENST00000351018.5 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
RHOH_chr4_40192031_40251967 | 40233925 | C | CAAATAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01433.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 others(19): Show |
22 | 316 | 0.0696 | 15 | c.-33 others(34): Show |
RHOH | ENSG00000168421.14 | transcript | ENST00000381799.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHOH_chr4_40192031_40251967 | 40233943 | A | ATAAAATA others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0200 | 1 | 316 | 0.0032 | 15 | c.-33 others(34): Show |
RHOH | ENSG00000168421.14 | transcript | ENST00000381799.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHOQ_chr2_46537490_46589688 | 46578569 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0049 a0001c0001t0004g0011 |
2 | 332 | 0.0060 | 15 | c.462 others(32): Show |
RHOQ | ENSG00000119729.12 | transcript | ENST00000238738.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RHOT1_chr17_32137502_32230727 | 32142446 | T | TCGCCGCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 284 | 0.0035 | 15 | c.-24 others(24): Show |
RHOT1 | ENSG00000126858.19 | transcript | ENST00000545287.7 | protein_coding | 55 | chr17 | TogoVar | |||||||
RHOXF2B_chrX_120067264_120082690 | 120078484 | T | TGGGGGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(71): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 others(29): Show |
74 | 213 | 0.3474 | 15 | c.-93 others(24): Show |
RHOXF2B | ENSG00000203989.5 | transcript | ENST00000371402.5 | protein_coding | 795 | chrX | TogoVar | |||||||
RHOXF2_chrX_120153613_120170630 | 120157805 | C | CGCCCTAC others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0003g0001 a0001c0001t0004g0002 a0001c0001t0004g0024 others(40): Show |
66 | 177 | 0.3729 | 15 | c.-94 others(24): Show |
RHOXF2 | ENSG00000131721.6 | transcript | ENST00000371388.5 | protein_coding | 807 | chrX | TogoVar | |||||||
RHO_chr3_129523639_129540344 | 129530533 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 404 | 0.0025 | 15 | c.362 others(30): Show |
RHO | ENSG00000163914.5 | transcript | ENST00000296271.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RHPN2_chr19_32973592_33069888 | 33031210 | T | TTTCTATT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01069.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(15): Show |
18 | 326 | 0.0552 | 15 | c.186 others(32): Show |
RHPN2 | ENSG00000131941.8 | transcript | ENST00000254260.8 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
RIBC2_chr22_45408693_45437509 | 45410786 | C | CGGAAACT others(8): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 424 | 0.0024 | 15 | c.-31 others(26): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 2906 | chr22 | TogoVar | |||||||
RIBC2_chr22_45408693_45437509 | 45421550 | A | ATAATAAT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02683.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 a0002c0002t0002g0091 |
5 | 424 | 0.0118 | 15 | c.557 others(30): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RIBC2_chr22_45408693_45437509 | 45421565 | T | TTAATAAT others(8): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 424 | 0.0024 | 15 | c.557 others(30): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RIBC2_chr22_45408693_45437509 | 45429548 | G | GACCAGGG others(8): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 424 | 0.0024 | 15 | c.904 others(32): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RIC1_chr9_5624107_5781557 | 5647980 | G | GTGGTGGT others(8): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0257 a0001c0002t0002g0258 |
2 | 328 | 0.0061 | 15 | c.145 others(32): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8151585 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG02109.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003a0001c0002t0014 | a0001c0001t0006g0005 a0001c0001t0006g0086 a0001c0001t0006g0087 others(10): Show |
14 | 370 | 0.0378 | 15 | c.125 others(34): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC8B_chr12_106769682_106894316 | 106803215 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0306 a0001c0002t0009g0307 |
2 | 318 | 0.0063 | 15 | c.133 others(34): Show |
RIC8B | ENSG00000111785.21 | transcript | ENST00000392837.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RICTOR_chr5_38932920_39079399 | 38994451 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19006.hp2 |
a0001a0013 | a0001c0001a0013c0016 | a0001c0001t0001a0013c0016t0001 | a0001c0001t0001g0138 a0013c0016t0001g0148 |
2 | 338 | 0.0059 | 15 | c.456 others(32): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 6/37 | chr5 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151408158 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0269 | 1 | 380 | 0.0026 | 15 | c.-18 others(26): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 1743 | chr2 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151408162 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03516.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0004a0003c0005t0007 | a0002c0001t0004g0020 a0003c0005t0007g0296 |
2 | 380 | 0.0053 | 15 | c.-18 others(26): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 1739 | chr2 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151408164 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0273 | 1 | 380 | 0.0026 | 15 | c.-18 others(26): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 1737 | chr2 | TogoVar | |||||||
RIF1_chr2_151404902_151487172 | 151426168 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03492.hp2 HG04204.hp2 others(11): Show |
a0001a0002a0025others(1): Show | a0001c0004a0002c0001a0025c0040others(1): Show | a0001c0004t0005a0001c0004t0006a0001c0004t0045others(4): Show | a0001c0004t0005g0062 a0001c0004t0005g0065 a0001c0004t0005g0078 others(11): Show |
14 | 380 | 0.0368 | 15 | c.787 others(32): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIF1_chr2_151404902_151487172 | 151442048 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(90): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0002c0001others(9): Show | a0001c0003t0002a0001c0003t0011a0001c0003t0025others(29): Show | a0001c0003t0002g0002 a0001c0003t0002g0049 a0001c0003t0002g0050 others(90): Show |
93 | 380 | 0.2447 | 15 | c.173 others(30): Show |
RIF1 | ENSG00000080345.18 | transcript | ENST00000444746.7 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RIGI_chr9_32450302_32531196 | 32508239 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01515.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0031 a0001c0006t0006g0075 |
2 | 344 | 0.0058 | 15 | c.107 others(32): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32508258 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG03209.hp2 others(1): Show |
a0003 | a0003c0008a0003c0009a0003c0023 | a0003c0008t0012a0003c0009t0012a0003c0009t0025others(1): Show | a0003c0008t0012g0250 a0003c0009t0012g0245 a0003c0009t0025g0224 others(1): Show |
4 | 344 | 0.0116 | 15 | c.107 others(32): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RIGI_chr9_32450302_32531196 | 32521139 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01070.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 others(20): Show |
23 | 344 | 0.0669 | 15 | c.106 others(32): Show |
RIGI | ENSG00000107201.11 | transcript | ENST00000379883.3 | protein_coding | 1/17 | chr9 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123516033 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0002t0013others(4): Show | a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0014g0094 others(8): Show |
11 | 210 | 0.0524 | 15 | c.460 others(32): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536825 | A | ATTTCTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0026 | a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0143 others(13): Show |
16 | 210 | 0.0762 | 15 | c.-33 others(26): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3107 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536904 | T | TTCCTTTC others(8): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03017.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0007a0001c0004t0029 | a0001c0004t0005g0197 a0001c0004t0005g0207 a0001c0004t0007g0203 others(1): Show |
4 | 210 | 0.0191 | 15 | c.-34 others(26): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3186 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536907 | C | CTTTCTCT others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0182 | 1 | 210 | 0.0048 | 15 | c.-34 others(26): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3189 | chr12 | TogoVar | |||||||
RILPL1_chr12_123465054_123538719 | 123536907 | C | CTTTCTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0165 a0002c0003t0003g0167 |
2 | 210 | 0.0095 | 15 | c.-34 others(26): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3189 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130692895 | A | ATAGGATA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00741.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0098 others(53): Show |
56 | 180 | 0.3111 | 15 | c.-35 others(36): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21380102 | G | GAGAAGGC others(8): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0071 | a0071c0012 | a0071c0012t0002 | a0071c0012t0002g0000 | 1 | 118 | 0.0085 | 15 | c.-37 others(26): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 3648 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21381775 | A | AAAAATAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02004.hp1 others(3): Show |
a0002a0003a0005others(2): Show | a0002c0001a0003c0052a0005c0006others(2): Show | a0002c0001t0003a0002c0001t0006a0003c0052t0005others(3): Show | a0002c0001t0003g0000 a0002c0001t0006g0000 a0003c0052t0005g0000 others(3): Show |
6 | 118 | 0.0509 | 15 | c.-20 others(26): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 1975 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21381775 | A | ACAAATAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 NA19030.hp1 others(2): Show |
a0025a0028a0064others(2): Show | a0025c0083a0028c0036a0064c0063others(2): Show | a0025c0083t0001a0028c0036t0005a0064c0063t0001others(2): Show | a0025c0083t0001g0000 a0028c0036t0005g0000 a0064c0063t0001g0000 others(2): Show |
5 | 118 | 0.0424 | 15 | c.-20 others(26): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 1975 | chr22 | TogoVar | |||||||
RIMBP3B_chr22_21378751_21394478 | 21393606 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0057 | a0057c0035 | a0057c0035t0001 | a0057c0035t0001g0000 | 1 | 118 | 0.0085 | 15 | c.*48 others(26): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 4129 | chr22 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21551866 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 200 | 0.0050 | 15 | c.-89 others(24): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 406 | chr22 | TogoVar |