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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB37_chr17_74732256_74752335 | 74746460 | GCAACCTG others(14): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18988.hp1 | a0006 | a0006c0007 | a0006c0007t0026 | a0006c0007t0026g0050 | 1 | 432 | 0.0023 | -21 | c.*10 others(32): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 9/9 | 1051 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58627471 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG03942.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0046 | a0001c0001t0037g0159 a0001c0001t0046g0050 |
2 | 220 | 0.0091 | -21 | c.252 others(38): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3GAP1_chr2_135047292_135175710 | 135117435 | TCTTCTTC others(14): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01928.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 others(1): Show |
4 | 280 | 0.0143 | -21 | c.648 others(38): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB3IP_chr12_69733860_69828199 | 69738576 | GCGAAACA others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(36): Show | a0001c0001t0001g0154 a0001c0001t0002g0006 a0001c0001t0002g0008 others(78): Show |
86 | 402 | 0.2139 | -21 | c.-48 others(30): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 283 | chr12 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36724146 | TATTTATT others(14): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0021 | a0021c0036 | a0021c0036t0001 | a0021c0036t0001g0141 | 1 | 428 | 0.0023 | -21 | c.259 others(40): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302274 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 400 | 0.0025 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302276 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0198 a0001c0001t0003g0204 others(1): Show |
7 | 400 | 0.0175 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302278 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0023 others(3): Show |
15 | 400 | 0.0375 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302280 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00544.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 a0001c0001t0003g0205 |
2 | 400 | 0.0050 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302284 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 400 | 0.0025 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302286 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 400 | 0.0025 | -21 | c.542 others(36): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140501 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG03130.hp1 HG04228.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0002t0001g0109 others(4): Show |
9 | 306 | 0.0294 | -21 | c.-88 others(38): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140503 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0002t0001g0016 others(6): Show |
10 | 306 | 0.0327 | -21 | c.-88 others(38): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140505 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0129 a0001c0002t0001g0001 a0001c0002t0001g0002 others(53): Show |
77 | 306 | 0.2516 | -21 | c.-88 others(38): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140507 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0166 others(1): Show |
6 | 306 | 0.0196 | -21 | c.-88 others(38): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 306 | 0.0033 | -21 | c.-89 others(38): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722325 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 354 | 0.0028 | -21 | c.130 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722329 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 354 | 0.0028 | -21 | c.130 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722331 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0075 a0001c0001t0002g0225 a0001c0001t0002g0226 others(13): Show |
16 | 354 | 0.0452 | -21 | c.130 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722333 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0224 a0001c0001t0011g0228 a0001c0001t0011g0241 |
3 | 354 | 0.0085 | -21 | c.130 others(38): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6C_chr2_129974666_129987738 | 129984345 | GATGAATC others(14): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0004others(4): Show | a0001c0001t0001g0000 a0001c0001t0017g0000 a0002c0002t0004g0000 others(4): Show |
18 | 402 | 0.0448 | -21 | c.*34 others(32): Show |
RAB6C | ENSG00000222014.6 | transcript | ENST00000410061.4 | protein_coding | 1608 | chr2 | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5282104 | CCCTCCGC others(14): Show |
C | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0004 | 1 | 352 | 0.0028 | -21 | c.-38 others(30): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 179 | chr17 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174195662 | CCTTTCCT others(14): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0265 |
3 | 272 | 0.0110 | -21 | c.-33 others(40): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174854715 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014 | a0001c0001t0002g0136 a0001c0001t0005g0001 a0001c0001t0014g0155 others(1): Show |
4 | 272 | 0.0147 | -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 | 122990797 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0025a0001c0002t0123 | a0001c0001t0004g0143 a0001c0001t0025g0144 a0001c0002t0123g0041 |
3 | 258 | 0.0116 | -21 | c.923 others(36): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 6/25 | chr9 | TogoVar | |||||||
RABL3_chr3_120679938_120747516 | 120747386 | ATCCCTCC others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 354 | 0.0028 | -21 | c.-49 others(32): Show |
RABL3 | ENSG00000144840.10 | transcript | ENST00000273375.8 | protein_coding | 4871 | chr3 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136817553 | AGGGGAGG others(14): Show |
A | intron_variant | MODIFIER | HG03704.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0278 |
2 | 330 | 0.0061 | -21 | c.131 others(38): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136818385 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0006t0001a0001c0012t0001 | a0001c0001t0001g0030 a0001c0001t0001g0278 a0001c0006t0001g0001 others(4): Show |
11 | 330 | 0.0333 | -21 | c.131 others(38): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAC1_chr7_6369527_6408967 | 6383784 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG03098.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0063 | a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0016g0264 others(1): Show |
4 | 392 | 0.0102 | -21 | c.36- others(36): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RAC1_chr7_6369527_6408967 | 6407843 | GTTTTTTT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0003g0022 a0001c0001t0003g0274 a0001c0001t0003g0277 others(97): Show |
101 | 392 | 0.2577 | -21 | c.*53 others(32): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 3877 | chr7 | TogoVar | |||||||
RACGAP1_chr12_49984162_50030494 | 49996628 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 324 | 0.0031 | -21 | c.104 others(38): Show |
RACGAP1 | ENSG00000161800.13 | transcript | ENST00000312377.10 | protein_coding | 10/16 | chr12 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67983810 | TGGCCTGT others(14): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02080.hp1 HG02258.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 others(12): Show |
15 | 84 | 0.1786 | -21 | c.756 others(40): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 68072059 | ATATTTAT others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 84 | 0.0119 | -21 | c.756 others(42): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 68272659 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 84 | 0.0119 | -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 | 68456869 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0080 |
2 | 84 | 0.0238 | -21 | c.958 others(40): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RAD51D_chr17_35087221_35124860 | 35102439 | CCTATTTT others(14): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 416 | 0.0024 | -21 | c.738 others(36): Show |
RAD51D | ENSG00000185379.21 | transcript | ENST00000345365.11 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RAD51D_chr17_35087221_35124860 | 35122186 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0050 | a0001c0001t0003g0098 a0001c0001t0050g0126 |
2 | 416 | 0.0048 | -21 | c.-25 others(32): Show |
RAD51D | ENSG00000185379.21 | transcript | ENST00000345365.11 | protein_coding | 2327 | chr17 | TogoVar | |||||||
RAD54B_chr8_94366960_94480115 | 94377545 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 362 | 0.0028 | -21 | c.251 others(38): Show |
RAD54B | ENSG00000197275.14 | transcript | ENST00000336148.10 | protein_coding | 14/14 | chr8 | TogoVar | |||||||
RAD9B_chr12_110497331_110538556 | 110520629 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 284 | 0.0035 | -21 | c.890 others(36): Show |
RAD9B | ENSG00000151164.19 | transcript | ENST00000409300.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4808879 | AACGCCAC others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03225.hp2 others(2): Show |
a0003a0004 | a0003c0025a0003c0026a0004c0005 | a0003c0025t0018a0003c0025t0030a0003c0026t0021others(1): Show | a0003c0025t0018g0003 a0003c0025t0030g0015 a0003c0026t0021g0122 others(2): Show |
5 | 292 | 0.0171 | -21 | c.214 others(40): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4811479 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0029 | a0029c0056 | a0029c0056t0039 | a0029c0056t0039g0014 | 1 | 292 | 0.0034 | -21 | c.213 others(40): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 9/14 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4875191 | CCAACAAC others(14): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0006 a0004c0005t0006g0018 |
2 | 292 | 0.0069 | -21 | c.535 others(38): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
RAET1E_chr6_149878179_149903113 | 149879561 | GAAAAAAA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 414 | 0.0024 | -21 | c.*89 others(32): Show |
RAET1E | ENSG00000164520.12 | transcript | ENST00000357183.9 | protein_coding | 3617 | chr6 | TogoVar | |||||||
RAI14_chr5_34651328_34837612 | 34787893 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0167 | 1 | 254 | 0.0039 | -21 | c.168 others(38): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAI14_chr5_34651328_34837612 | 34822664 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA18950.hp1 NA18951.hp2 NA18955.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001a0003c0004t0002 | a0001c0001t0001g0025 a0001c0001t0001g0197 a0003c0004t0001g0178 others(1): Show |
4 | 254 | 0.0158 | -21 | c.111 others(38): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAI1_chr17_17676458_17816453 | 17700797 | ACCGCGCC others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01109.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(10): Show | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(28): Show |
31 | 252 | 0.1230 | -21 | c.-14 others(42): Show |
RAI1 | ENSG00000108557.20 | transcript | ENST00000353383.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAI2_chrX_17795049_17866298 | 17801390 | AGGAGGAG others(14): Show |
A | disruptive_inframe_deletion | MODERATE | NA19075.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0060 | 1 | 179 | 0.0056 | -21 | c.600 others(28): Show |
p.Pro others(13): Show |
RAI2 | ENSG00000131831.18 | transcript | ENST00000451717.6 | protein_coding | 2/2 | 845/2187 | 600/1593 | 200/530 | chrX | TogoVar | |||
RALGAPA1_chr14_35533356_35814295 | 35703669 | TACTAACC others(14): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 a0001c0002t0001g0146 |
2 | 272 | 0.0074 | -21 | c.226 others(40): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 16/41 | chr14 | TogoVar | |||||||
RALGAPA1_chr14_35533356_35814295 | 35811767 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 272 | 0.0037 | -21 | c.-29 others(32): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 2473 | chr14 | TogoVar | |||||||
RALGDS_chr9_133092722_133126240 | 133121181 | CCGGCCCG others(14): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01346.hp2 HG01433.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 others(1): Show |
4 | 424 | 0.0094 | -21 | c.-48 others(28): Show |
RALGDS | ENSG00000160271.16 | transcript | ENST00000372050.8 | protein_coding | 1/18 | 28 | chr9 | TogoVar |