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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB6B_chr3_133819235_133900882 | 133885320 | T | TAATGACC others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0013others(6): Show | a0001c0001t0009g0331 a0001c0001t0011g0328 a0001c0001t0013g0333 others(6): Show |
10 | 384 | 0.0260 | 31 | c.70+ others(48): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RAB6C_chr2_129974666_129987738 | 129985821 | G | GTGCCTAG others(24): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | 31 | c.*49 others(42): Show |
RAB6C | ENSG00000222014.6 | transcript | ENST00000410061.4 | protein_coding | 3084 | chr2 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 3 | 0.3333 | 31 | c.53+ others(44): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128809936 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01361.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0125 a0001c0001t0001g0201 a0001c0001t0017g0143 |
3 | 42 | 0.0714 | 31 | c.528 others(48): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 95 | 0.0105 | 31 | c.234 others(52): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAC1_chr7_6369527_6408967 | 6370973 | C | CAGTTGGA others(24): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 390 | 0.0026 | 31 | c.-37 others(42): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 3553 | chr7 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67818084 | G | GGTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show |
9 | 84 | 0.1071 | 31 | c.-17 others(42): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 1694 | chr14 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67818085 | G | GTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 54 | 0.0185 | 31 | c.-17 others(42): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 1693 | chr14 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67818085 | G | GTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 54 | 0.0185 | 31 | c.-17 others(42): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 1693 | chr14 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67818085 | G | GTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 54 | 0.0185 | 31 | c.-17 others(42): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 1693 | chr14 | TogoVar | |||||||
RAD54B_chr8_94366960_94480115 | 94384518 | G | GATTTCAG others(24): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 358 | 0.0028 | 31 | c.198 others(50): Show |
RAD54B | ENSG00000197275.14 | transcript | ENST00000336148.10 | protein_coding | 11/14 | chr8 | TogoVar | |||||||
RAD9A_chr11_67386986_67403410 | 67388253 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 212 | 0.0047 | 31 | c.-37 others(42): Show |
RAD9A | ENSG00000172613.8 | transcript | ENST00000307980.7 | protein_coding | 3732 | chr11 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4887049 | A | ATCGTCTG others(24): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 290 | 0.0034 | 31 | c.-35 others(42): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 3334 | chr7 | TogoVar | |||||||
RALGAPA1_chr14_35533356_35814295 | 35769035 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0107 | 1 | 135 | 0.0074 | 31 | c.325 others(48): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 4/41 | chr14 | TogoVar | |||||||
RALGAPA2_chr20_20384530_20717644 | 20458469 | A | AATATATA others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0119 | 1 | 69 | 0.0145 | 31 | c.549 others(52): Show |
RALGAPA2 | ENSG00000188559.16 | transcript | ENST00000202677.12 | protein_coding | 37/39 | chr20 | TogoVar | |||||||
RALGAPA2_chr20_20384530_20717644 | 20458469 | A | AATATATA others(24): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0018a0001c0003t0001others(4): Show | a0001c0001t0006g0115 a0001c0001t0018g0031 a0001c0003t0001g0072 others(4): Show |
7 | 75 | 0.0933 | 31 | c.549 others(52): Show |
RALGAPA2 | ENSG00000188559.16 | transcript | ENST00000202677.12 | protein_coding | 37/39 | chr20 | TogoVar | |||||||
RALY_chr20_33988911_34089884 | 34017081 | G | GTTAACTT others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(202): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0058 others(202): Show |
205 | 288 | 0.7118 | 31 | c.-92 others(50): Show |
RALY | ENSG00000125970.12 | transcript | ENST00000246194.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RANBP10_chr16_67718070_67811560 | 67785731 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 61 | 0.0164 | 31 | c.348 others(50): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
RANBP3L_chr5_36241913_36306902 | 36294871 | A | AGTGTATA others(24): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18906.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 |
3 | 376 | 0.0080 | 31 | c.91+ others(46): Show |
RANBP3L | ENSG00000164188.9 | transcript | ENST00000296604.8 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
RANBP3_chr19_5911139_5983140 | 5937056 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19003.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0002g0278 |
3 | 48 | 0.0625 | 31 | c.407 others(48): Show |
RANBP3 | ENSG00000031823.14 | transcript | ENST00000340578.10 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2949423 | G | GTGCCCTG others(24): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0005 | a0001c0005t0120 | a0001c0005t0120g0147 | 1 | 216 | 0.0046 | 31 | c.166 others(48): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAP1GDS1_chr4_98256384_98448858 | 98438589 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 210 | 0.0048 | 31 | c.169 others(50): Show |
RAP1GDS1 | ENSG00000138698.15 | transcript | ENST00000408927.8 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
RAPGEF3_chr12_47729363_47763880 | 47759466 | A | AAGGACTG others(24): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(162): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0004c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(64): Show |
165 | 428 | 0.3855 | 31 | c.-91 others(40): Show |
RAPGEF3 | ENSG00000079337.16 | transcript | ENST00000449771.7 | protein_coding | 587 | chr12 | TogoVar | |||||||
RARS1_chr5_168481471_168524301 | 168518071 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 76 | 0.0132 | 31 | c.187 others(46): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RARS1_chr5_168481471_168524301 | 168521614 | G | GGAGGCTG others(24): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0087 | 1 | 392 | 0.0026 | 31 | c.*24 others(42): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 2314 | chr5 | TogoVar | |||||||
RASA1_chr5_87262883_87396916 | 87338535 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 136 | 0.0074 | 31 | c.101 others(48): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 5/24 | chr5 | TogoVar | |||||||
RASA2_chr3_141482027_141620344 | 141486920 | G | GGGGGCGG others(24): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0232 | 1 | 278 | 0.0036 | 31 | c.-16 others(40): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 106 | chr3 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114029089 | G | GGGGGCCA others(24): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004a0002c0004t0009 | a0001c0001t0004g0066 a0002c0004t0004g0001 a0002c0004t0004g0029 others(1): Show |
4 | 66 | 0.0606 | 31 | c.449 others(46): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 5/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044175 | G | GCTCCCCC others(24): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 51 | 0.0196 | 31 | c.278 others(48): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099749 | C | CCCCCACA others(24): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 64 | 0.0156 | 31 | c.56- others(48): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099793 | G | GCCCCCCC others(24): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 57 | 0.0175 | 31 | c.56- others(48): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114120186 | T | TCTCTCCA others(24): Show |
intron_variant | MODIFIER | HG02738.hp1 HG04228.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0016 a0001c0005t0001g0017 |
2 | 44 | 0.0455 | 31 | c.55+ others(48): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASAL2_chr1_178089104_178483850 | 178180485 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 16 | 0.0625 | 31 | c.202 others(50): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RASAL2_chr1_178089104_178483850 | 178395796 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 177 | 0.0056 | 31 | c.564 others(48): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180209116 | G | GCCGCCGC others(24): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG03017.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0007 a0001c0001t0010g0011 a0001c0001t0010g0012 others(1): Show |
4 | 368 | 0.0109 | 31 | c.-96 others(38): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 1/14 | 71065 | chr5 | TogoVar | ||||||
RASGRF1_chr15_78954906_79095780 | 79091971 | C | CCACACAC others(24): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0017 | a0002c0017t0004 | a0002c0017t0004g0294 | 1 | 310 | 0.0032 | 31 | c.-14 others(42): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 1192 | chr15 | TogoVar | |||||||
RASGRP3_chr2_33471649_33569731 | 33547342 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0350 | 1 | 79 | 0.0127 | 31 | c.139 others(50): Show |
RASGRP3 | ENSG00000152689.18 | transcript | ENST00000403687.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASSF8_chr12_25953682_26077869 | 26035480 | T | TATATAAT others(24): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02165.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0003t0004others(1): Show | a0001c0001t0003g0225 a0001c0001t0015g0092 a0001c0003t0004g0291 others(2): Show |
5 | 392 | 0.0128 | 31 | c.-10 others(52): Show |
RASSF8 | ENSG00000123094.16 | transcript | ENST00000689635.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RAVER1_chr19_10311212_10338529 | 10313672 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 364 | 0.0027 | 31 | c.*37 others(42): Show |
RAVER1 | ENSG00000161847.15 | transcript | ENST00000617231.5 | protein_coding | 2539 | chr19 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 23 | 0.0435 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 NA19079.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0265 |
3 | 25 | 0.1200 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 NA18972.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0179 a0001c0001t0001g0283 |
3 | 25 | 0.1200 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 NA18974.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0159 |
3 | 25 | 0.1200 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATTT others(24): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0030 |
2 | 24 | 0.0833 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 23 | 0.0435 | 31 | c.-35 others(42): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 417662 | C | CCTTTCAC others(24): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 450 | 0.0022 | 31 | c.261 others(44): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6806837 | T | TAAATATA others(24): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03540.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0018a0001c0002t0038 | a0001c0001t0011g0035 a0001c0001t0018g0052 a0001c0002t0038g0023 |
3 | 53 | 0.0566 | 31 | c.-16 others(52): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7186994 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 | 1 | 20 | 0.0500 | 31 | c.27+ others(50): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7610118 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 68 | 0.0147 | 31 | c.736 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79170143 | A | AGGAGGAA others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0067 a0001c0001t0004g0116 |
2 | 150 | 0.0133 | 31 | c.-33 others(50): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar |