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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPL26_chr17_8372516_8388193 | 8374937 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0046 |
7 | 422 | 0.0166 | 13 | c.*26 others(24): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2578 | chr17 | TogoVar | |||||||
RPL27_chr17_42993419_43007959 | 43007847 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 356 | 0.0028 | 13 | c.*49 others(24): Show |
RPL27 | ENSG00000131469.15 | transcript | ENST00000253788.12 | protein_coding | 4889 | chr17 | TogoVar | |||||||
RPL35A_chr3_197945190_197961610 | 197956624 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0019 others(1): Show |
14 | 374 | 0.0374 | 13 | c.*85 others(22): Show |
RPL35A | ENSG00000182899.17 | transcript | ENST00000647248.2 | protein_coding | 15 | chr3 | TogoVar | |||||||
RPL37_chr5_40820262_40840222 | 40839997 | T | TACATAGC others(6): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0035 | 1 | 440 | 0.0023 | 13 | c.-48 others(24): Show |
RPL37 | ENSG00000145592.14 | transcript | ENST00000274242.10 | protein_coding | 4776 | chr5 | TogoVar | |||||||
RPL39L_chr3_187115948_187144496 | 187134483 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01358.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0070 a0001c0001t0004g0112 a0002c0002t0004g0114 others(2): Show |
5 | 400 | 0.0125 | 13 | c.-93 others(30): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
RPL6_chr12_112400189_112414605 | 112403176 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 406 | 0.0049 | 13 | c.*20 others(24): Show |
RPL6 | ENSG00000089009.16 | transcript | ENST00000202773.14 | protein_coding | 2012 | chr12 | TogoVar | |||||||
RPN1_chr3_128614969_128655818 | 128651029 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 388 | 0.0026 | 13 | c.-24 others(22): Show |
RPN1 | ENSG00000163902.12 | transcript | ENST00000296255.8 | protein_coding | 212 | chr3 | TogoVar | |||||||
RPP25_chr15_74949418_74961772 | 74950068 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 13 | c.*59 others(24): Show |
RPP25 | ENSG00000178718.7 | transcript | ENST00000322177.6 | protein_coding | 4349 | chr15 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36033299 | C | CCAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0009 | 1 | 318 | 0.0031 | 13 | c.281 others(28): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 2/6 | chr18 | TogoVar | |||||||
RPRD2_chr1_150359147_150481566 | 150369623 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02056.hp1 HG03831.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0001c0001t0040a0003c0005t0005others(1): Show | a0001c0001t0004g0265 a0001c0001t0040g0289 a0003c0005t0005g0214 others(1): Show |
4 | 318 | 0.0126 | 13 | c.205 others(30): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPRD2_chr1_150359147_150481566 | 150387567 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03195.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0148 |
2 | 318 | 0.0063 | 13 | c.205 others(32): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPRML_chr17_46973156_46984253 | 46980666 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 452 | 0.0177 | 13 | c.-16 others(24): Show |
RPRML | ENSG00000179673.5 | transcript | ENST00000322329.5 | protein_coding | 1414 | chr17 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34424140 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00735.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0030 a0001c0001t0002g0038 others(5): Show |
24 | 390 | 0.0615 | 13 | c.322 others(28): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34426147 | G | GTGGCCTC others(6): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 13 | c.-11 others(22): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 79 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34427078 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(71): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(30): Show |
74 | 390 | 0.1897 | 13 | c.-10 others(24): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 1010 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34427082 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 390 | 0.0026 | 13 | c.-10 others(24): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 1014 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34428164 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(139): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(39): Show |
142 | 390 | 0.3641 | 13 | c.-21 others(24): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 2096 | chr6 | TogoVar | |||||||
RPS11_chr19_49491434_49504708 | 49495135 | C | CTTTCTCT others(6): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 |
4 | 352 | 0.0114 | 13 | c.-13 others(24): Show |
RPS11 | ENSG00000142534.7 | transcript | ENST00000270625.7 | protein_coding | 1298 | chr19 | TogoVar | |||||||
RPS28_chr19_8316496_8328340 | 8325296 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG02280.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 5 | 404 | 0.0124 | 13 | c.*30 others(24): Show |
RPS28 | ENSG00000233927.5 | transcript | ENST00000600659.3 | protein_coding | 1957 | chr19 | TogoVar | |||||||
RPS29_chr14_49578577_49591380 | 49582012 | C | CCAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 4 | 335 | 0.0119 | 13 | c.*16 others(24): Show |
RPS29 | ENSG00000213741.11 | transcript | ENST00000245458.11 | protein_coding | 1564 | chr14 | TogoVar | |||||||
RPS6KA1_chr1_26524761_26580025 | 26562825 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 a0001c0001t0003g0034 |
2 | 330 | 0.0061 | 13 | c.159 others(32): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166468856 | T | TCCGCCTC others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(43): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(63): Show | a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0088 others(115): Show |
118 | 244 | 0.4836 | 13 | c.972 others(28): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 11/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480477 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01952.hp2 HG02451.hp1 |
a0001 | a0001c0011a0001c0013a0001c0030 | a0001c0011t0001a0001c0013t0001a0001c0030t0017 | a0001c0011t0001g0229 a0001c0013t0001g0089 a0001c0030t0017g0053 |
3 | 244 | 0.0123 | 13 | c.907 others(30): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166517450 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0008a0001c0017a0001c0018others(1): Show | a0001c0008t0001a0001c0017t0005a0001c0018t0006others(1): Show | a0001c0008t0001g0185 a0001c0017t0005g0125 a0001c0018t0006g0044 others(1): Show |
4 | 244 | 0.0164 | 13 | c.299 others(30): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166550994 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(11): Show | a0001c0001t0001g0070 a0001c0001t0003g0227 a0001c0001t0012g0013 others(11): Show |
14 | 244 | 0.0574 | 13 | c.100 others(32): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90855604 | A | ATTTTTGT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03017.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0153a0001c0001t0206 | a0001c0001t0153g0163 a0001c0001t0206g0214 |
2 | 306 | 0.0065 | 13 | c.*16 others(26): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 17/17 | 16469 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90855612 | A | ATTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03927.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0192a0001c0002t0121 | a0001c0001t0192g0010 a0001c0002t0121g0172 |
2 | 306 | 0.0065 | 13 | c.*16 others(26): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 17/17 | 16461 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90855613 | T | TTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0157a0001c0001t0158 | a0001c0001t0157g0195 a0001c0001t0158g0144 |
2 | 306 | 0.0065 | 13 | c.*16 others(26): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 17/17 | 16460 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90885552 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02886.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0157a0001c0001t0159 | a0001c0001t0002g0187 a0001c0001t0157g0195 a0001c0001t0159g0168 |
3 | 306 | 0.0098 | 13 | c.183 others(32): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90885768 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0272 | 1 | 306 | 0.0033 | 13 | c.183 others(32): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91062546 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0143 | a0001c0001t0143g0259 | 1 | 306 | 0.0033 | 13 | c.-21 others(24): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1906 | chr14 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59900171 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 304 | 0.0033 | 13 | c.141 others(30): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG01943.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0004g0005 others(8): Show |
11 | 330 | 0.0333 | 13 | c.472 others(28): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213257786 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0008 | 1 | 330 | 0.0030 | 13 | c.291 others(32): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KL1_chr14_74898951_74928260 | 74900973 | G | GGCTCAGG others(6): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 370 | 0.0027 | 13 | c.*60 others(24): Show |
RPS6KL1 | ENSG00000198208.12 | transcript | ENST00000557413.6 | protein_coding | 2977 | chr14 | TogoVar | |||||||
RPS6KL1_chr14_74898951_74928260 | 74924542 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0033 | 1 | 370 | 0.0027 | 13 | c.-18 others(24): Show |
RPS6KL1 | ENSG00000198208.12 | transcript | ENST00000557413.6 | protein_coding | 1283 | chr14 | TogoVar | |||||||
RPS9_chr19_54195858_54212647 | 54207722 | C | CACTTCAG others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(170): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(25): Show |
173 | 457 | 0.3786 | 13 | c.*14 others(22): Show |
RPS9 | ENSG00000170889.14 | transcript | ENST00000302907.9 | protein_coding | 76 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23759522 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0109 | 1 | 366 | 0.0027 | 13 | c.-39 others(24): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3481 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23824580 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01070.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0020others(22): Show | a0001c0001t0008g0100 a0001c0001t0008g0111 a0001c0001t0008g0177 others(35): Show |
39 | 366 | 0.1066 | 13 | c.-92 others(30): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23824580 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0009 a0004c0004t0013g0010 |
2 | 366 | 0.0055 | 13 | c.-92 others(30): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80544472 | T | TAATATTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0002 | 1 | 196 | 0.0051 | 13 | c.-11 others(24): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 365 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80601555 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0010others(5): Show | a0001c0003t0014a0001c0004t0023a0001c0010t0056others(5): Show | a0001c0003t0014g0102 a0001c0004t0023g0074 a0001c0010t0056g0183 others(5): Show |
8 | 196 | 0.0408 | 13 | c.163 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80601555 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0021others(2): Show | a0001c0007t0090a0001c0008t0036a0001c0021t0065others(2): Show | a0001c0007t0090g0025 a0001c0008t0036g0002 a0001c0021t0065g0112 others(2): Show |
5 | 196 | 0.0255 | 13 | c.163 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80634280 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0005a0001c0012a0001c0057others(2): Show | a0001c0005t0026a0001c0005t0067a0001c0012t0018others(3): Show | a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0012t0018g0194 others(3): Show |
6 | 196 | 0.0306 | 13 | c.265 others(30): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685627 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0010 | a0001c0010t0094 | a0001c0010t0094g0054 | 1 | 196 | 0.0051 | 13 | c.349 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685628 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18906.hp2 |
a0001 | a0001c0037a0001c0075 | a0001c0037t0004a0001c0075t0012 | a0001c0037t0004g0145 a0001c0075t0012g0127 |
2 | 196 | 0.0102 | 13 | c.349 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80711744 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01099.hp1 others(18): Show |
a0001 | a0001c0003a0001c0008a0001c0012others(14): Show | a0001c0003t0004a0001c0008t0036a0001c0012t0003others(15): Show | a0001c0003t0004g0119 a0001c0008t0036g0002 a0001c0012t0003g0123 others(18): Show |
21 | 196 | 0.1071 | 13 | c.507 others(30): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80862759 | G | GTCCCTGT others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001a0005 | a0001c0006a0001c0012a0001c0016others(3): Show | a0001c0006t0087a0001c0012t0018a0001c0016t0031others(3): Show | a0001c0006t0087g0013 a0001c0012t0018g0194 a0001c0016t0031g0010 others(4): Show |
7 | 196 | 0.0357 | 13 | c.150 others(32): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD4_chr11_126197096_126216650 | 126214490 | G | GTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01433.hp2 HG02735.hp2 others(11): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0003 | a0001c0003t0001g0016 a0001c0003t0001g0043 a0001c0003t0001g0097 others(5): Show |
14 | 416 | 0.0337 | 13 | c.-28 others(24): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2841 | chr11 | TogoVar | |||||||
RRAGB_chrX_55712749_55763774 | 55744387 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(156): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
159 | 276 | 0.5761 | 13 | c.517 others(30): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar |