regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPGRIP1_chr14_21275083_21356301 | 21301677 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01346.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0137a0001c0001t0001g0139others(5): Show | 8 | 332 | 0.0241 | -9 | c.490 others(24): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPGRIP1_chr14_21275083_21356301 | 21301716 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01099.hp2 others(16): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0003c0012others(5): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0003c0003t0001g0164others(16): Show | 19 | 332 | 0.0572 | -9 | c.490 others(24): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPGRIP1_chr14_21275083_21356301 | 21343866 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp1 others(8): Show |
a0001a0003a0008others(4): Show | a0001c0001a0003c0003a0008c0009others(5): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(7): Show | a0001c0001t0001g0187a0003c0003t0001g0176a0003c0003t0002g0185others(8): Show | 11 | 332 | 0.0331 | -9 | c.353 others(26): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 241055 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(1): Show | a0001c0001t0001g0043a0001c0001t0006g0120a0001c0001t0024g0083others(1): Show | 4 | 133 | 0.0301 | -9 | c.613 others(26): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 290660 | ATGCCCAG others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0022 | a0001c0001t0006g0120a0001c0001t0010g0015a0001c0001t0022g0071 | 3 | 133 | 0.0226 | -9 | c.352 others(26): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPL10_chrX_154393377_154407332 | 154407218 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0008 | 1 | 276 | 0.0036 | -9 | c.*63 others(20): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 4887 | chrX | TogoVar | ||||||
RPL11_chr1_23686806_23701835 | 23699564 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023 | 11 | 388 | 0.0284 | -9 | c.*31 others(20): Show |
RPL11 | ENSG00000142676.14 | transcript | ENST00000643754.2 | protein_coding | 2730 | chr1 | TogoVar | ||||||
RPL13_chr16_89555682_89569542 | 89555800 | CTTTGTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0002t0020a0001c0004t0014others(1): Show | a0001c0002t0003g0014a0001c0002t0020g0014a0001c0004t0014g0016others(1): Show | 4 | 386 | 0.0104 | -9 | c.-49 others(20): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 4881 | chr16 | TogoVar | ||||||
RPL14_chr3_40452339_40473587 | 40462029 | ACTGCTGC others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG01074.hp2 HG01934.hp2 HG02055.hp2 others(12): Show |
a0007a0016a0018 | a0007c0007a0016c0016a0018c0018 | a0007c0007t0002a0007c0007t0015a0007c0007t0020others(5): Show | a0007c0007t0002g0002a0007c0007t0015g0004a0007c0007t0015g0070others(7): Show | 15 | 418 | 0.0359 | -9 | c.469 others(16): Show |
p.Ala others(13): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 6/6 | 602/7136 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
RPL17_chr18_49483481_49497465 | 49484148 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG03195.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011 | 3 | 445 | 0.0067 | -9 | c.*43 others(20): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 4332 | chr18 | TogoVar | ||||||
RPL22_chr1_6180020_6204595 | 6202748 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0031others(15): Show | 21 | 372 | 0.0565 | -9 | c.-31 others(20): Show |
RPL22 | ENSG00000116251.11 | transcript | ENST00000234875.9 | protein_coding | 3154 | chr1 | TogoVar | ||||||
RPL24_chr3_101676091_101691718 | 101684776 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01516.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0055a0001c0001t0001g0068others(3): Show | 8 | 444 | 0.0180 | -9 | c.192 others(26): Show |
RPL24 | ENSG00000114391.14 | transcript | ENST00000394077.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
RPL31_chr2_100997289_101012267 | 101012027 | TAGTGAAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0029others(1): Show | 12 | 440 | 0.0273 | -9 | c.*56 others(20): Show |
RPL31 | ENSG00000071082.11 | transcript | ENST00000264258.8 | protein_coding | 4761 | chr2 | TogoVar | ||||||
RPL37_chr5_40820262_40840222 | 40837366 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0078a0001c0001t0079others(1): Show | a0001c0001t0022g0021a0001c0001t0078g0101a0001c0001t0079g0102others(1): Show | 8 | 440 | 0.0182 | -9 | c.-21 others(20): Show |
RPL37 | ENSG00000145592.14 | transcript | ENST00000274242.10 | protein_coding | 2145 | chr5 | TogoVar | ||||||
RPL38_chr17_74198678_74215655 | 74206708 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0010a0001c0001t0005g0071 | 6 | 446 | 0.0135 | -9 | c.65- others(24): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPL39L_chr3_187115948_187144496 | 187140488 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02559.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(14): Show | 26 | 400 | 0.0650 | -9 | c.-13 others(20): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 993 | chr3 | TogoVar | ||||||
RPL39_chrX_119781504_119796630 | 119789621 | CAGGATGT others(2): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 320 | 0.0031 | -9 | c.107 others(24): Show |
RPL39 | ENSG00000198918.8 | transcript | ENST00000361575.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
RPL41_chr12_56111633_56122967 | 56116157 | GAAAGAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG03225.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0003g0006a0001c0001t0004g0008 | 3 | 352 | 0.0085 | -9 | c.-63 others(18): Show |
RPL41 | ENSG00000229117.9 | transcript | ENST00000546591.6 | protein_coding | 475 | chr12 | TogoVar | ||||||
RPLP0_chr12_120191699_120206111 | 120202435 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01934.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0021others(2): Show | 10 | 372 | 0.0269 | -9 | c.-14 others(20): Show |
RPLP0 | ENSG00000089157.16 | transcript | ENST00000392514.9 | protein_coding | 1325 | chr12 | TogoVar | ||||||
RPLP2_chr11_804967_817876 | 810009 | TCTCCGCC others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(108): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0006others(8): Show | 111 | 428 | 0.2594 | -9 | c.-22 others(16): Show |
RPLP2 | ENSG00000177600.9 | transcript | ENST00000321153.9 | protein_coding | 1/5 | 208 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
RPP25_chr15_74949418_74961772 | 74950068 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 12 | 422 | 0.0284 | -9 | c.*59 others(20): Show |
RPP25 | ENSG00000178718.7 | transcript | ENST00000322177.6 | protein_coding | 4349 | chr15 | TogoVar | ||||||
RPP38_chr10_15092355_15109257 | 15104935 | ACCTCGTG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp1 others(34): Show |
a0002a0004a0005 | a0002c0002a0004c0005a0005c0006 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(4): Show | a0002c0002t0002g0030a0002c0002t0002g0107a0002c0002t0003g0009others(16): Show | 37 | 382 | 0.0969 | -9 | c.*77 others(18): Show |
RPP38 | ENSG00000152464.15 | transcript | ENST00000378197.5 | protein_coding | 679 | chr10 | TogoVar | ||||||
RPRD1B_chr20_38028746_38097364 | 38043704 | GATAGGAT others(2): Show |
G | intron_variant | MODIFIER | NA18998.hp2 NA19055.hp2 NA19084.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0321a0001c0002t0002g0322a0001c0002t0002g0326 | 3 | 384 | 0.0078 | -9 | c.281 others(26): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPRD1B_chr20_38028746_38097364 | 38096404 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01361.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0025a0001c0002t0002g0280others(4): Show | 9 | 384 | 0.0234 | -9 | c.*65 others(20): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 4041 | chr20 | TogoVar | ||||||
RPRD2_chr1_150359147_150481566 | 150384450 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00733.hp1 others(66): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(17): Show | a0001c0001t0002g0234a0001c0001t0002g0235a0001c0001t0002g0239others(65): Show | 69 | 318 | 0.2170 | -9 | c.205 others(28): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPRD2_chr1_150359147_150481566 | 150387567 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0028others(1): Show | a0001c0001t0005g0183a0001c0001t0005g0184a0001c0001t0005g0186others(4): Show | 7 | 318 | 0.0220 | -9 | c.205 others(28): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPRML_chr17_46973156_46984253 | 46974987 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(216): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(3): Show | 219 | 452 | 0.4845 | -9 | c.*36 others(20): Show |
RPRML | ENSG00000179673.5 | transcript | ENST00000322329.5 | protein_coding | 3168 | chr17 | TogoVar | ||||||
RPS19_chr19_41855255_41877925 | 41870848 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042a0001c0001t0004g0038a0001c0001t0004g0039 | 6 | 390 | 0.0154 | -9 | c.412 others(24): Show |
RPS19 | ENSG00000105372.8 | transcript | ENST00000598742.6 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
RPS20_chr8_56068054_56079506 | 56068807 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0018others(1): Show | 6 | 331 | 0.0181 | -9 | c.*42 others(20): Show |
RPS20 | ENSG00000008988.11 | transcript | ENST00000009589.8 | protein_coding | 4246 | chr8 | TogoVar | ||||||
RPS24_chr10_78028863_78045697 | 78031540 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0062 | 6 | 430 | 0.0140 | -9 | c.-23 others(20): Show |
RPS24 | ENSG00000138326.21 | transcript | ENST00000372360.9 | protein_coding | 2322 | chr10 | TogoVar | ||||||
RPS27L_chr15_63143249_63162477 | 63155297 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027a0001c0001t0036others(6): Show | a0001c0001t0026g0041a0001c0001t0027g0042a0001c0001t0036g0043others(6): Show | 12 | 430 | 0.0279 | -9 | c.226 others(24): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 3/3 | chr15 | TogoVar | ||||||
RPS28_chr19_8316496_8328340 | 8326481 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0003g0002others(2): Show | 12 | 404 | 0.0297 | -9 | c.*42 others(20): Show |
RPS28 | ENSG00000233927.5 | transcript | ENST00000600659.3 | protein_coding | 3142 | chr19 | TogoVar | ||||||
RPS5_chr19_58382269_58399804 | 58388636 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01943.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0118a0001c0001t0004g0038a0001c0001t0005g0088others(1): Show | 6 | 432 | 0.0139 | -9 | c.108 others(24): Show |
RPS5 | ENSG00000083845.9 | transcript | ENST00000196551.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPS6KA3_chrX_20144911_20271909 | 20178636 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0017a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0017g0035a0001c0002t0003g0041a0001c0002t0003g0061others(7): Show | 10 | 212 | 0.0472 | -9 | c.846 others(26): Show |
RPS6KA3 | ENSG00000177189.14 | transcript | ENST00000379565.9 | protein_coding | 10/21 | chrX | TogoVar | ||||||
RPS6KA3_chrX_20144911_20271909 | 20255789 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 212 | 0.0047 | -9 | c.69+ others(26): Show |
RPS6KA3 | ENSG00000177189.14 | transcript | ENST00000379565.9 | protein_coding | 1/21 | chrX | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 90862455 | CCTTCTTC others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01192.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0115a0001c0001t0173 | a0001c0001t0114g0266a0001c0001t0115g0267a0001c0001t0173g0254 | 3 | 306 | 0.0098 | -9 | c.*96 others(20): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 17/17 | 9610 | chr14 | TogoVar | |||||
RPS6KA5_chr14_90842861_91065641 | 91013543 | CTGCAATT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(57): Show | a0001c0001t0001g0134a0001c0001t0001g0136a0001c0001t0001g0138others(72): Show | 75 | 306 | 0.2451 | -9 | c.104 others(28): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91035847 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0024a0001c0001t0146others(10): Show | a0001c0001t0011g0223a0001c0001t0024g0057a0001c0001t0024g0058others(11): Show | 14 | 306 | 0.0458 | -9 | c.103 others(28): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044364 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0170a0001c0001t0177others(5): Show | a0001c0001t0005g0294a0001c0001t0170g0219a0001c0001t0177g0285others(5): Show | 8 | 306 | 0.0261 | -9 | c.103 others(28): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91063946 | TATCACTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0064a0001c0001t0131others(1): Show | a0001c0001t0014g0209a0001c0001t0064g0210a0001c0001t0131g0208others(1): Show | 4 | 306 | 0.0131 | -9 | c.-35 others(20): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 3306 | chr14 | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84187975 | CCCGCCGC others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0233 | 1 | 272 | 0.0037 | -9 | c.-85 others(16): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 1/22 | 77 | chrX | TogoVar | |||||
RPS6KB1_chr17_59888121_59955574 | 59895318 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00673.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0266a0001c0001t0002g0232a0001c0001t0003g0001others(56): Show | 60 | 304 | 0.1974 | -9 | c.141 others(26): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23761912 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01978.hp2 others(20): Show |
a0001a0013a0014 | a0001c0001a0013c0015a0014c0013 | a0001c0001t0008a0001c0001t0011a0001c0001t0031others(8): Show | a0001c0001t0008g0100a0001c0001t0008g0106a0001c0001t0008g0107others(20): Show | 23 | 366 | 0.0628 | -9 | c.-15 others(20): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1091 | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23810414 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(34): Show | a0001c0001t0001g0247a0001c0001t0001g0258a0001c0001t0001g0266others(62): Show | 65 | 366 | 0.1776 | -9 | c.-93 others(26): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80585166 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(77): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(127): Show | a0001c0001t0002g0038a0001c0001t0005g0042a0001c0001t0005g0044others(140): Show | 143 | 196 | 0.7296 | -9 | c.162 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80586863 | GTGTGATA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(29): Show | a0001c0001t0015g0085a0001c0002t0015g0086a0001c0002t0039g0088others(30): Show | 33 | 196 | 0.1684 | -9 | c.163 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80596177 | AAATTGGT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(29): Show | a0001c0001t0015g0085a0001c0002t0015g0086a0001c0002t0039g0088others(30): Show | 33 | 196 | 0.1684 | -9 | c.163 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80616298 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0036a0001c0037a0001c0083others(10): Show | a0001c0036t0004a0001c0037t0004a0001c0037t0053others(11): Show | a0001c0036t0004g0167a0001c0036t0004g0168a0001c0037t0004g0145others(12): Show | 15 | 196 | 0.0765 | -9 | c.163 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80626776 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(47): Show | a0001c0001t0015g0085a0001c0002t0015g0086a0001c0002t0039g0088others(49): Show | 52 | 196 | 0.2653 | -9 | c.265 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80634599 | CGTACTGT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(39): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(37): Show | a0001c0001t0015g0085a0001c0002t0015g0086a0001c0002t0039g0088others(39): Show | 42 | 196 | 0.2143 | -9 | c.265 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |