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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R3HDM4_chr19_891503_918219 | 892881 | A | AGCCCCGC others(14): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 98 | 0.0102 | 21 | c.*45 others(32): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3621 | chr19 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892913 | C | CCGCGCCC others(14): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 430 | 0.0023 | 21 | c.*45 others(32): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3589 | chr19 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26114737 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 165 | 0.0061 | 21 | c.327 others(38): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26124389 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 12 | 0.0833 | 21 | c.328 others(38): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 480286 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0136 | 1 | 127 | 0.0079 | 21 | c.904 others(38): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504393 | A | ACCCCCTC others(14): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18947.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0041 a0001c0002t0009g0275 |
2 | 275 | 0.0073 | 21 | c.139 others(40): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504407 | T | TTCCTGTA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0242 a0001c0001t0001g0283 a0001c0001t0002g0005 others(36): Show |
39 | 154 | 0.2532 | 21 | c.139 others(40): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504603 | A | ACCCCCTC others(14): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0284 | 1 | 292 | 0.0034 | 21 | c.139 others(38): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27543574 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 232 | 0.0043 | 21 | c.*55 others(32): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 1336 | chr10 | TogoVar | |||||||
RAB18_chr10_27499304_27547239 | 27546498 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0035 a0001c0001t0004g0058 a0001c0001t0004g0062 others(3): Show |
8 | 16 | 0.5000 | 21 | c.*84 others(32): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 4260 | chr10 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103299 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 278 | 0.0036 | 21 | c.96+ others(36): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103310 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 331 | 0.0030 | 21 | c.96+ others(36): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB21_chr12_71749863_71805286 | 71794427 | A | ATATATAT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0059 | 1 | 227 | 0.0044 | 21 | c.*87 others(32): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 7/7 | 8756 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB26_chr16_2143625_2159165 | 2144885 | G | GCCTTGCC others(14): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG02258.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0033 |
3 | 382 | 0.0079 | 21 | c.-38 others(32): Show |
RAB26 | ENSG00000167964.13 | transcript | ENST00000210187.11 | protein_coding | 3739 | chr16 | TogoVar | |||||||
RAB31_chr18_9703301_9867551 | 9719298 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 228 | 0.0044 | 21 | c.39+ others(38): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
RAB35_chr12_120090099_120121753 | 120110290 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0015a0001c0002t0003others(1): Show | a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0015g0067 others(2): Show |
5 | 34 | 0.1471 | 21 | c.53- others(36): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
RAB39B_chrX_155253235_155269491 | 155269437 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 11 | 289 | 0.0381 | 21 | c.-51 others(32): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 4947 | chrX | TogoVar | |||||||
RAB39B_chrX_155253235_155269491 | 155269438 | T | TATATATA others(14): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 290 | 0.0103 | 21 | c.-51 others(32): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 4948 | chrX | TogoVar | |||||||
RAB3A_chr19_18191784_18209042 | 18201259 | A | AGAAAGAA others(14): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 235 | 0.0043 | 21 | c.229 others(36): Show |
RAB3A | ENSG00000105649.10 | transcript | ENST00000222256.9 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51967521 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0004a0001c0002t0019 | a0001c0001t0045g0062 a0001c0002t0004g0055 a0001c0002t0004g0056 others(1): Show |
4 | 19 | 0.2105 | 21 | c.228 others(38): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
RAB3GAP1_chr2_135047292_135175710 | 135103035 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01261.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0245 a0001c0001t0003g0276 a0001c0001t0016g0235 |
3 | 98 | 0.0306 | 21 | c.362 others(38): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117409 | T | TTTCTTCT others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp2 HG02015.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0102 others(9): Show |
12 | 132 | 0.0909 | 21 | c.648 others(38): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73714209 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 56 | 0.0179 | 21 | c.401 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73728610 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01081.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 others(23): Show |
26 | 53 | 0.4906 | 21 | c.129 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73757129 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 232 | 0.0043 | 21 | c.70+ others(36): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01192.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 others(22): Show |
25 | 27 | 0.9259 | 21 | c.53+ others(34): 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(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01261.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105 a0001c0001t0001g0233 a0001c0001t0001g0291 others(3): Show |
6 | 45 | 0.1333 | 21 | c.528 others(38): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB8B_chr15_63184606_63272776 | 63189879 | T | TGAGAGGG others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01070.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0331 a0001c0001t0001g0332 others(7): Show |
12 | 370 | 0.0324 | 21 | c.124 others(36): Show |
RAB8B | ENSG00000166128.13 | transcript | ENST00000321437.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929898 | A | AGAGAGAG others(14): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 364 | 0.0027 | 21 | c.-47 others(32): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4661 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174225494 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0156 | 1 | 120 | 0.0083 | 21 | c.331 others(38): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174364243 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19062.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0177 a0001c0002t0003g0210 |
2 | 92 | 0.0217 | 21 | c.146 others(40): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show |
7 | 101 | 0.0693 | 21 | c.234 others(42): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174859482 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 HG02622.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0003a0002c0008t0015 | a0001c0002t0003g0174 a0001c0002t0003g0207 a0002c0008t0015g0218 |
3 | 77 | 0.0390 | 21 | c.234 others(42): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1_chr9_122936020_123109866 | 122945147 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0220 a0001c0001t0002g0232 a0001c0001t0003g0182 others(2): Show |
5 | 28 | 0.1786 | 21 | c.-50 others(38): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136817574 | T | TGGGGAGG others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(176): Show |
194 | 325 | 0.5969 | 21 | c.131 others(38): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAC2_chr22_37220270_37249269 | 37227013 | C | CCCCTCCC others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0188 | 1 | 445 | 0.0022 | 21 | c.449 others(36): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RAC2_chr22_37220270_37249269 | 37245780 | A | AAATAATA others(14): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00642.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0206 others(26): Show |
45 | 271 | 0.1661 | 21 | c.-16 others(32): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 1512 | chr22 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991479 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 152 | 0.0066 | 21 | c.171 others(38): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991479 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 NA18971.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0002t0001g0040 others(1): Show |
4 | 155 | 0.0258 | 21 | c.171 others(38): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991479 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0273 |
3 | 154 | 0.0195 | 21 | c.171 others(38): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49991479 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0042 | 1 | 152 | 0.0066 | 21 | c.171 others(38): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 15/16 | chr12 | TogoVar | |||||||
RAD18_chr3_8872075_8968472 | 8967240 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0230 | 1 | 98 | 0.0102 | 21 | c.-38 others(32): Show |
RAD18 | ENSG00000070950.10 | transcript | ENST00000264926.7 | protein_coding | 3769 | chr3 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1221412 | C | CTTTCTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 294 | 0.0034 | 21 | c.-47 others(32): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 4631 | chr20 | TogoVar | |||||||
RAD21_chr8_116840934_116879776 | 116874161 | G | GGGCGCCG others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 2 | 426 | 0.0047 | 21 | c.-33 others(36): Show |
RAD21 | ENSG00000164754.16 | transcript | ENST00000297338.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
RAD21_chr8_116840934_116879776 | 116874170 | G | GCCCGCCA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0189 a0001c0001t0011g0190 |
2 | 425 | 0.0047 | 21 | c.-33 others(36): Show |
RAD21 | ENSG00000164754.16 | transcript | ENST00000297338.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 68037140 | T | TCCCCTCC others(14): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 78 | 0.0128 | 21 | c.756 others(42): 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(14): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 60 | 0.0167 | 21 | c.757 others(40): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68331367 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 43 | 0.0233 | 21 | c.853 others(40): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68425975 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 57 | 0.0175 | 21 | c.957 others(40): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 907024 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01952.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0019 | a0001c0001t0001g0067 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show |
9 | 25 | 0.3600 | 21 | c.*63 others(32): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 4711 | chr12 | TogoVar |