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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 100 | 0.0100 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73685588 | G | GAAAGTCT others(35): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0305 a0001c0001t0005g0311 |
2 | 25 | 0.0800 | 42 | c.496 others(59): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739304 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 204 | 0.0049 | 42 | c.71- others(57): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128809936 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 40 | 0.0250 | 42 | c.528 others(59): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5323759 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0140 a0001c0002t0008g0153 |
2 | 289 | 0.0069 | 42 | c.164 others(59): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 36 | 0.0278 | 42 | c.-47 others(53): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174550983 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0146 a0001c0001t0005g0147 |
2 | 209 | 0.0096 | 42 | c.171 others(63): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174550983 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0138 | 1 | 208 | 0.0048 | 42 | c.171 others(63): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833449 | G | GAGATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 199 | 0.0050 | 42 | c.234 others(63): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833449 | G | GATATATA others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 others(3): Show |
6 | 204 | 0.0294 | 42 | c.234 others(63): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937619 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 a0001c0001t0005g0146 |
2 | 194 | 0.0103 | 42 | c.234 others(63): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGEF1_chr7_66735733_66816464 | 66757877 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 398 | 0.0025 | 42 | c.-17 others(61): Show |
RABGEF1 | ENSG00000154710.18 | transcript | ENST00000284957.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RABL2B_chr22_50762506_50788636 | 50788193 | G | GTTTGCTT others(35): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0229 | 1 | 474 | 0.0021 | 42 | c.-47 others(53): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 4558 | chr22 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136817574 | T | TGGGGAGG others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 132 | 0.0076 | 42 | c.131 others(59): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136817574 | T | TGGGGAGG others(35): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 132 | 0.0076 | 42 | c.131 others(59): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAC3_chr17_82026678_82039204 | 82034806 | T | TGGTCCCG others(35): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 399 | 0.0025 | 42 | c.*97 others(51): Show |
RAC3 | ENSG00000169750.9 | transcript | ENST00000306897.9 | protein_coding | 603 | chr17 | TogoVar | |||||||
RAD17_chr5_69364818_69419801 | 69377680 | T | TACATATA others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 342 | 0.0029 | 42 | c.351 others(59): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD21L1_chr20_1221044_1260876 | 1221366 | C | CTTTCTTT others(35): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0007 | 2 | 143 | 0.0140 | 42 | c.-48 others(53): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 4677 | chr20 | TogoVar | |||||||
RAD21_chr8_116840934_116879776 | 116874170 | G | GCCCGCCA others(35): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0191 | 1 | 424 | 0.0024 | 42 | c.-33 others(57): Show |
RAD21 | ENSG00000164754.16 | transcript | ENST00000297338.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 68260298 | C | CGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03942.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0071 |
3 | 34 | 0.0882 | 42 | c.757 others(61): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68260318 | T | TGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 60 | 0.0167 | 42 | c.757 others(61): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4886281 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0023 | a0007c0023t0008 | a0007c0023t0008g0069 | 1 | 289 | 0.0035 | 42 | c.-27 others(53): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2566 | chr7 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12632156 | T | TCTACTAA others(35): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01952.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 others(3): Show |
6 | 260 | 0.0231 | 42 | c.-26 others(61): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RALGPS1_chr9_126909782_127228166 | 127199520 | G | GCCTCTGC others(35): Show |
intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0232 a0001c0001t0005g0131 a0001c0001t0005g0132 |
3 | 108 | 0.0278 | 42 | c.124 others(59): Show |
RALGPS1 | ENSG00000136828.19 | transcript | ENST00000259351.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84342277 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0067 others(4): Show |
7 | 31 | 0.2258 | 42 | c.-24 others(63): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84342295 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0047 a0001c0001t0006g0009 a0001c0001t0006g0010 |
3 | 76 | 0.0395 | 42 | c.-24 others(63): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84732683 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 44 | 0.0227 | 42 | c.257 others(61): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RANBP17_chr5_170857018_171305015 | 170894484 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 83 | 0.0120 | 42 | c.424 others(59): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RANBP17_chr5_170857018_171305015 | 171012078 | T | TTTATTTG others(35): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | 192 | 0.0104 | 42 | c.171 others(63): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAP1B_chr12_68605899_68676901 | 68606097 | C | CGGGGGGG others(35): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 37 | 0.0270 | 42 | c.-49 others(53): Show |
RAP1B | ENSG00000127314.18 | transcript | ENST00000250559.14 | protein_coding | 4801 | chr12 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660339 | C | CTATTTAT others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0353 | 1 | 283 | 0.0035 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660345 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0339 | 1 | 259 | 0.0039 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660345 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00673.hp1 HG04184.hp2 NA18982.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0031 a0001c0002t0001g0048 a0002c0001t0001g0046 others(1): Show |
4 | 262 | 0.0153 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660345 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03490.hp2 HG03492.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0315 a0002c0001t0001g0001 |
3 | 261 | 0.0115 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 243 | 0.0041 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03471.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0188 a0001c0007t0001g0324 |
2 | 244 | 0.0082 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0187 | 1 | 243 | 0.0041 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0186 | 1 | 243 | 0.0041 | 42 | c.-14 others(61): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAPGEF4_chr2_172730845_173057893 | 172752037 | A | AGAACTGA others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(140): Show |
143 | 176 | 0.8125 | 42 | c.65+ others(59): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAPH1_chr2_203428682_203540301 | 203506866 | A | ATCTATAT others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01257.hp1 HG01952.hp2 others(1): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0023 a0001c0002t0001g0046 a0001c0002t0001g0079 others(1): Show |
4 | 202 | 0.0198 | 42 | c.1-1 others(57): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RARB_chr3_25423263_25602932 | 25494250 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02004.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0002g0130 |
2 | 92 | 0.0217 | 42 | c.307 others(59): Show |
RARB | ENSG00000077092.20 | transcript | ENST00000330688.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RARS1_chr5_168481471_168524301 | 168518071 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 76 | 0.0132 | 42 | c.187 others(57): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA1_chr5_87262883_87396916 | 87338535 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 136 | 0.0074 | 42 | c.101 others(59): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 5/24 | chr5 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044095 | G | GCCCCCCC others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0011 | 1 | 44 | 0.0227 | 42 | c.278 others(59): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099842 | G | GCCCCCCA others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0029 | 1 | 47 | 0.0213 | 42 | c.56- others(59): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114133216 | C | CCCCAGTC others(35): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 54 | 0.0185 | 42 | c.-72 others(51): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 594 | chr13 | TogoVar | |||||||
RASGRF2_chr5_80955363_81235162 | 80992183 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0014a0001c0002t0028 | a0001c0001t0020g0272 a0001c0002t0014g0246 a0001c0002t0028g0247 |
3 | 124 | 0.0242 | 42 | c.288 others(61): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASGRF2_chr5_80955363_81235162 | 80992183 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp2 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0065 a0001c0001t0001g0152 a0001c0001t0002g0193 others(28): Show |
31 | 152 | 0.2039 | 42 | c.288 others(61): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASGRF2_chr5_80955363_81235162 | 80992197 | C | CATACACA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0240 | 1 | 272 | 0.0037 | 42 | c.288 others(61): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 23 | 0.0435 | 42 | c.-35 others(53): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar |