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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RFX4_chr12_106578004_106767803 | 106641957 | ATATCTAT others(3): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 296 | 0.0034 | -10 | c.191 others(27): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106669839 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG01943.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0277a0001c0001t0001g0278 | 3 | 296 | 0.0101 | -10 | c.316 others(29): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106683466 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 296 | 0.0034 | -10 | c.377 others(27): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106687180 | TCTCACAC others(3): Show |
T | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 296 | 0.0034 | -10 | c.591 others(23): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106687182 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00741.hp1 others(79): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(79): Show | 82 | 296 | 0.2770 | -10 | c.591 others(25): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106737162 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 296 | 0.0034 | -10 | c.163 others(29): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106767350 | TTACAGGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 296 | 0.0034 | -10 | c.*58 others(21): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 4548 | chr12 | TogoVar | ||||||
RFX5_chr1_151335640_151352252 | 151349498 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02965.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0009t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0002g0002a0001c0009t0003g0046others(1): Show | 9 | 408 | 0.0221 | -10 | c.-24 others(21): Show |
RFX5 | ENSG00000143390.18 | transcript | ENST00000452671.7 | protein_coding | 2247 | chr1 | TogoVar | ||||||
RFX6_chr6_116872242_116937161 | 116908679 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02602.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0070a0001c0002t0002g0183 | 2 | 372 | 0.0054 | -10 | c.673 others(27): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RFX6_chr6_116872242_116937161 | 116909735 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 372 | 0.0027 | -10 | c.673 others(27): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RFX6_chr6_116872242_116937161 | 116936488 | AAGAGAGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0029a0001c0001t0001g0172a0001c0002t0002g0178others(1): Show | 5 | 372 | 0.0134 | -10 | c.*49 others(21): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 4328 | chr6 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56103129 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0057 | 1 | 360 | 0.0028 | -10 | c.518 others(25): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56178166 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03669.hp2 NA18980.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0003a0004c0008t0002 | a0001c0001t0003g0257a0004c0008t0002g0041 | 2 | 360 | 0.0056 | -10 | c.195 others(27): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56179761 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0009a0001c0003t0001 | a0001c0002t0002g0092a0001c0002t0002g0098a0001c0002t0002g0099others(4): Show | 7 | 360 | 0.0194 | -10 | c.162 others(25): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56239984 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(91): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(8): Show | a0001c0001t0001g0107a0001c0002t0002g0040a0001c0002t0002g0042others(91): Show | 94 | 360 | 0.2611 | -10 | c.161 others(27): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101394626 | GTTTTCTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 352 | 0.0028 | -10 | c.*29 others(21): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2732 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101394689 | TTCTTTCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0002c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0107a0001c0001t0001g0124a0001c0001t0001g0128others(47): Show | 51 | 352 | 0.1449 | -10 | c.*28 others(21): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2669 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101394706 | TTTTTCTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03209.hp2 HG03579.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0250a0001c0001t0001g0293a0003c0003t0001g0235others(1): Show | 4 | 352 | 0.0114 | -10 | c.*28 others(21): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2652 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101434541 | CAATGCAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0015a0001c0001t0001g0107a0001c0001t0001g0134others(180): Show | 195 | 352 | 0.5540 | -10 | c.73- others(27): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101437869 | CCACCACC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0015a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0107others(187): Show | 206 | 352 | 0.5852 | -10 | c.73- others(27): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101468354 | GGTGTTCC others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0185 | 1 | 352 | 0.0028 | -10 | c.-52 others(27): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101469022 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18612.hp1 NA18951.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0190a0001c0001t0001g0210a0002c0002t0001g0006others(2): Show | 7 | 352 | 0.0199 | -10 | c.-52 others(27): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101472518 | GAGTGGCC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(147): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0020others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0020t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0190a0001c0001t0001g0193others(135): Show | 150 | 352 | 0.4261 | -10 | c.-53 others(27): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101475063 | TTGCTGTG others(3): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03225.hp2 |
a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0008a0002c0008t0004g0021 | 3 | 352 | 0.0085 | -10 | c.-49 others(19): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 1/12 | 8216 | chr2 | TogoVar | |||||
RFXAP_chr13_36814222_36834104 | 36821214 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0019 | 33 | 430 | 0.0767 | -10 | c.600 others(27): Show |
RFXAP | ENSG00000133111.4 | transcript | ENST00000255476.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RGCC_chr13_41452550_41475871 | 41463469 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0080others(11): Show | 14 | 448 | 0.0313 | -10 | c.236 others(27): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RGCC_chr13_41452550_41475871 | 41466181 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(173): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(71): Show | 176 | 448 | 0.3929 | -10 | c.236 others(25): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RGL1_chr1_183800120_183933532 | 183805971 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01496.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0165a0001c0002t0003g0005a0001c0002t0004g0013 | 3 | 296 | 0.0101 | -10 | c.28- others(23): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL1_chr1_183800120_183933532 | 183832930 | GTGCTAAA others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01074.hp1 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0026a0001c0001t0001g0053a0001c0001t0001g0104others(34): Show | 37 | 296 | 0.1250 | -10 | c.139 others(29): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL1_chr1_183800120_183933532 | 183837402 | TGAAGACC others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0086others(33): Show | 38 | 296 | 0.1284 | -10 | c.139 others(29): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL1_chr1_183800120_183933532 | 183857075 | AGATTATC others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 296 | 0.0034 | -10 | c.348 others(27): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL1_chr1_183800120_183933532 | 183873959 | ATAGAAGG others(3): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0099 | 2 | 296 | 0.0068 | -10 | c.426 others(27): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RGL3_chr19_11389060_11424314 | 11396100 | ATCTCTCT others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0358 | 1 | 402 | 0.0025 | -10 | c.201 others(29): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 18/18 | chr19 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11396158 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0005 | a0001c0003t0001a0002c0002t0001a0005c0005t0001 | a0001c0003t0001g0105a0002c0002t0001g0001a0002c0002t0001g0206others(2): Show | 6 | 402 | 0.0149 | -10 | c.201 others(29): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 18/18 | chr19 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11414134 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 | 1 | 402 | 0.0025 | -10 | c.637 others(27): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11414333 | ATATATAC others(3): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 | 1 | 402 | 0.0025 | -10 | c.637 others(27): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11414490 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01358.hp1 others(7): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0007a0004c0004others(4): Show | a0001c0001t0001a0002c0007t0001a0004c0004t0001others(6): Show | a0001c0001t0001g0328a0002c0007t0001g0181a0004c0004t0001g0274others(7): Show | 10 | 402 | 0.0249 | -10 | c.637 others(27): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
RGMA_chr15_93030271_93094211 | 93090532 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00673.hp2 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0011a0001c0001t0001g0211a0001c0001t0001g0260others(90): Show | 94 | 414 | 0.2271 | -10 | c.-16 others(21): Show |
RGMA | ENSG00000182175.15 | transcript | ENST00000329082.12 | protein_coding | 1322 | chr15 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074217 | AAGAAAGA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149a0001c0001t0002g0082 | 2 | 304 | 0.0066 | -10 | c.-51 others(21): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4225 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074221 | AAGAAAGA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 304 | 0.0033 | -10 | c.-51 others(21): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4221 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47086734 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0124a0001c0001t0001g0146others(8): Show | 11 | 304 | 0.0362 | -10 | c.346 others(27): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGP1_chr9_35744287_35763585 | 35746357 | GGTGGGCG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 438 | 0.0023 | -10 | c.-30 others(21): Show |
RGP1 | ENSG00000107185.10 | transcript | ENST00000378078.5 | protein_coding | 2929 | chr9 | TogoVar | ||||||
RGP1_chr9_35744287_35763585 | 35759567 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0001 | a0001c0001t0021g0007a0001c0002t0001g0003 | 2 | 438 | 0.0046 | -10 | c.*66 others(21): Show |
RGP1 | ENSG00000107185.10 | transcript | ENST00000378078.5 | protein_coding | 983 | chr9 | TogoVar | ||||||
RGPD1_chr2_86937118_87018976 | 86949763 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(10): Show |
a0001a0005a0011 | a0001c0001a0005c0005a0011c0012 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0094others(10): Show | 13 | 102 | 0.1275 | -10 | c.73- others(25): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD1_chr2_86937118_87018976 | 86998511 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 102 | 0.0098 | -10 | c.523 others(27): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RGPD2_chr2_87750960_87830796 | 87769676 | GTATTGAA others(3): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG02280.hp1 HG02683.hp2 others(1): Show |
a0001a0015 | a0001c0001a0001c0002a0015c0024 | a0001c0001t0001a0001c0002t0002a0015c0024t0001 | a0001c0001t0001g0098a0001c0002t0002g0041a0001c0002t0002g0148others(1): Show | 4 | 176 | 0.0227 | -10 | c.523 others(29): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 22/22 | chr2 | TogoVar | ||||||
RGPD2_chr2_87750960_87830796 | 87825567 | GCCGCCCG others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp1 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0164a0002c0003t0001g0165 | 2 | 176 | 0.0114 | -10 | c.72+ others(21): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106400401 | TTTTGTTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0089 | 1 | 382 | 0.0026 | -10 | c.*48 others(21): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 3004 | chr2 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106412293 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0291 | 1 | 382 | 0.0026 | -10 | c.526 others(27): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 22/22 | chr2 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106441863 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0041others(17): Show | 22 | 382 | 0.0576 | -10 | c.979 others(25): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 7/22 | chr2 | TogoVar |