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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF152_chr18_61803067_61898007 | 61844086 | G | GAAAGAAA others(31): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0162 |
2 | 307 | 0.0065 | 38 | c.-13 others(59): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
RNF152_chr18_61803067_61898007 | 61844098 | G | GAAAGAAA others(31): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0123 | 1 | 308 | 0.0032 | 38 | c.-13 others(59): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
RNF157_chr17_76137474_76245493 | 76182760 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0011a0001c0005t0008 | a0001c0002t0011g0205 a0001c0005t0008g0198 |
2 | 96 | 0.0208 | 38 | c.208 others(55): Show |
RNF157 | ENSG00000141576.16 | transcript | ENST00000269391.11 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881984 | A | ATAGATAC others(31): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 416 | 0.0024 | 38 | c.*22 others(49): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2064 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882090 | A | ATAGATAC others(31): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 NA18972.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0235 a0003c0006t0001g0175 |
2 | 365 | 0.0055 | 38 | c.*23 others(49): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2170 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882151 | G | GATACATC others(31): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0020 | 1 | 72 | 0.0139 | 38 | c.*24 others(49): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2231 | chr13 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087109 | T | TGAGAGGA others(31): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0033 a0001c0002t0003g0342 a0001c0002t0003g0345 others(1): Show |
5 | 403 | 0.0124 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087118 | G | GGGGTGGG others(31): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 403 | 0.0025 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087123 | G | GGGGGAGA others(31): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 115 | 0.0087 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087123 | G | GGGGGAGA others(31): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show |
225 | 339 | 0.6637 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087123 | G | GGGGGAGA others(31): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG01433.hp1 others(47): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0104 others(43): Show |
50 | 164 | 0.3049 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1087123 | G | GGGGGAGA others(31): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0325 a0001c0002t0003g0328 |
2 | 116 | 0.0172 | 38 | c.304 others(55): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80306771 | G | GATACACT others(31): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0006 | a0006c0009 | a0006c0009t0018 | a0006c0009t0018g0272 | 1 | 290 | 0.0034 | 38 | c.242 others(55): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 12/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80355488 | A | AGGAAGAA others(31): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01257.hp1 others(19): Show |
a0001a0003a0004others(5): Show | a0001c0004a0001c0075a0001c0076others(9): Show | a0001c0004t0002a0001c0004t0006a0001c0004t0010others(16): Show | a0001c0004t0002g0073 a0001c0004t0006g0266 a0001c0004t0010g0040 others(19): Show |
22 | 268 | 0.0821 | 38 | c.108 others(57): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80355600 | G | GGGGAAGA others(31): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02486.hp1 others(3): Show |
a0008a0017a0055 | a0008c0013a0008c0028a0017c0033others(1): Show | a0008c0013t0017a0008c0028t0009a0017c0033t0009others(1): Show | a0008c0013t0017g0236 a0008c0013t0017g0241 a0008c0013t0017g0250 others(3): Show |
6 | 184 | 0.0326 | 38 | c.108 others(59): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80355600 | G | GGGGAAGA others(31): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02257.hp2 HG03491.hp1 others(5): Show |
a0002a0007a0011others(4): Show | a0002c0058a0002c0121a0007c0008others(5): Show | a0002c0058t0002a0002c0121t0002a0007c0008t0004others(5): Show | a0002c0058t0002g0215 a0002c0121t0002g0063 a0007c0008t0004g0287 others(5): Show |
8 | 186 | 0.0430 | 38 | c.108 others(59): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF216_chr7_5615047_5786663 | 5768346 | T | TACACACA others(31): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0001g0191 a0001c0001t0001g0230 a0001c0001t0001g0238 others(4): Show |
7 | 30 | 0.2333 | 38 | c.-69 others(55): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
RNF2_chr1_185040558_185107603 | 185082345 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0278 | 1 | 6 | 0.1667 | 38 | c.-2- others(53): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF34_chr12_121395118_121429348 | 121420261 | C | CAGCAAAC others(31): Show |
frameshift_variant others(1): Show |
HIGH | NA18950.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0055 | 1 | 348 | 0.0029 | 38 | c.663 others(45): Show |
p.Glu others(5): Show |
RNF34 | ENSG00000170633.17 | transcript | ENST00000361234.10 | protein_coding | 4/6 | 759/1986 | 664/1119 | 222/372 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
RNF34_chr12_121395118_121429348 | 121422585 | T | TTAAATCT others(31): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 348 | 0.0029 | 38 | c.929 others(53): Show |
RNF34 | ENSG00000170633.17 | transcript | ENST00000361234.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNH1_chr11_489515_512242 | 497217 | A | ACTCTCGC others(31): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 | 1 | 386 | 0.0026 | 38 | c.112 others(55): Show |
RNH1 | ENSG00000023191.17 | transcript | ENST00000354420.7 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
RNLS_chr10_88279102_88588318 | 88548289 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 126 | 0.0079 | 38 | c.526 others(57): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79496387 | C | CATTTTTT others(31): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0016 | a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0016g0044 |
3 | 11 | 0.2727 | 38 | c.88+ others(55): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79757503 | C | CCATATAT others(31): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG03486.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0013a0002c0004t0007 | a0001c0002t0013g0008 a0002c0004t0007g0009 a0002c0004t0007g0010 |
3 | 39 | 0.0769 | 38 | c.-51 others(57): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 1/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79771158 | A | ATATATAT others(31): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 39 | 0.0256 | 38 | c.-34 others(49): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 3161 | chr3 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11238209 | A | AGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 38 | 0.0263 | 38 | c.463 others(55): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 4/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295973 | A | AGAGAGAG others(31): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 313 | 0.0032 | 38 | c.142 others(55): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295989 | A | AGAGAGAG others(31): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0105 | 1 | 290 | 0.0034 | 38 | c.142 others(55): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(31): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0059 | 1 | 217 | 0.0046 | 38 | c.142 others(55): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GGGGAGAG others(31): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03834.hp1 NA19081.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0016a0004c0012t0001 | a0001c0001t0001g0122 a0001c0001t0016g0177 a0004c0012t0001g0178 |
3 | 48 | 0.0625 | 38 | c.142 others(55): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11317612 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0256 | 1 | 66 | 0.0152 | 38 | c.141 others(57): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91937029 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 NA18522.hp2 |
a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0143 a0005c0008t0005g0144 a0005c0008t0005g0145 |
3 | 64 | 0.0469 | 38 | c.97+ others(55): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61053848 | G | GATATATA others(31): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03491.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0018 | a0001c0001t0006g0052 a0001c0001t0010g0081 a0001c0001t0010g0088 others(1): Show |
4 | 10 | 0.4000 | 38 | c.166 others(59): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92305432 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 51 | 0.0196 | 38 | c.399 others(55): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 110994727 | G | GTATATAT others(31): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0259 | 1 | 196 | 0.0051 | 38 | c.235 others(55): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPH3A_chr12_112786748_112903881 | 112791867 | G | GGAGAGAG others(31): Show |
5_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0158a0001c0001t0159others(6): Show | a0001c0001t0004g0018 a0001c0001t0004g0150 a0001c0001t0158g0034 others(8): Show |
11 | 17 | 0.6471 | 38 | c.-28 others(47): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36413 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(31): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 155 | 0.0065 | 38 | c.-17 others(49): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8374937 | C | CAAAAAAA others(31): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 38 | c.*26 others(49): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2578 | chr17 | TogoVar | |||||||
RPL30_chr8_98036721_98050545 | 98037392 | G | GTATATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 NA18941.hp1 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 153 | 0.0261 | 38 | c.*44 others(49): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4328 | chr8 | TogoVar | |||||||
RPL30_chr8_98036721_98050545 | 98037392 | G | GTATGTAT others(31): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 150 | 0.0067 | 38 | c.*44 others(49): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4328 | chr8 | TogoVar | |||||||
RPL30_chr8_98036721_98050545 | 98037392 | G | GTGTATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 150 | 0.0067 | 38 | c.*44 others(49): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4328 | chr8 | TogoVar | |||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(31): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18952.hp1 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0008g0001 |
4 | 373 | 0.0107 | 38 | c.-45 others(49): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | |||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(31): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 371 | 0.0054 | 38 | c.-45 others(49): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | |||||||
RPL5_chr1_92827040_92846924 | 92846815 | A | ATATATGT others(31): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | 242 | 0.0083 | 38 | c.*49 others(49): Show |
RPL5 | ENSG00000122406.14 | transcript | ENST00000370321.8 | protein_coding | 4892 | chr1 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008575 | G | GTATATAT others(31): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0281 | 1 | 208 | 0.0048 | 38 | c.790 others(57): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03017.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0005g0291 |
3 | 10 | 0.3000 | 38 | c.790 others(57): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0131 |
2 | 9 | 0.2222 | 38 | c.790 others(57): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPS12_chr6_132809569_132822564 | 132810387 | T | TATCTTAT others(31): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 390 | 0.0026 | 38 | c.-42 others(49): Show |
RPS12 | ENSG00000112306.8 | transcript | ENST00000230050.4 | protein_coding | 4181 | chr6 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0037 |
2 | 98 | 0.0204 | 38 | c.472 others(53): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80889806 | A | AAGGGAGG others(31): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0004a0001c0009a0001c0013others(6): Show | a0001c0004t0014a0001c0009t0012a0001c0013t0013others(8): Show | a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0009t0012g0106 others(11): Show |
14 | 106 | 0.1321 | 38 | c.198 others(57): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |