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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBL1_chr20_36991349_37100997 | 37000367 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 350 | 0.0029 | -50 | c.303 others(69): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | |||||||
RBL1_chr20_36991349_37100997 | 37000995 | TGGCCAGC others(43): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 a0001c0001t0004g0033 |
2 | 352 | 0.0057 | -50 | c.303 others(69): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 21/21 | chr20 | TogoVar | |||||||
RBM20_chr10_110639336_110844468 | 110767136 | GGATGGGG others(43): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0113 others(6): Show |
9 | 263 | 0.0342 | -50 | c.192 others(69): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBM38_chr20_57386396_57414333 | 57405717 | CCAGGGCT others(43): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 398 | 0.0025 | -50 | c.417 others(67): Show |
RBM38 | ENSG00000132819.17 | transcript | ENST00000356208.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1499346 | CGGGGCGG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG01261.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0090 a0001c0001t0002g0055 a0001c0001t0002g0113 others(11): Show |
24 | 315 | 0.0762 | -50 | c.*21 others(61): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1420 | chr19 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759483 | ATATACAT others(43): Show |
A | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 449 | 0.0022 | -50 | c.-23 others(61): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2074 | chr3 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422630 | ACACATAT others(43): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 286 | 0.0035 | -50 | c.140 others(67): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RFFL_chr17_35000990_35068707 | 35003538 | GTCCTGAC others(43): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0038 | 1 | 370 | 0.0027 | -50 | c.*83 others(61): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 2451 | chr17 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16404006 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA18944.hp1 NA18984.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 a0001c0002t0002g0220 |
2 | 265 | 0.0075 | -50 | c.441 others(67): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 14011067 | GATCACGA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 278 | 0.0036 | -50 | c.-50 others(61): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 4748 | chr19 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106620539 | ACAAAGGG others(43): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02027.hp1 HG02074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0049 a0001c0002t0001g0083 |
3 | 294 | 0.0102 | -50 | c.130 others(69): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101468991 | AGTATATA others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0020others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0020t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0193 a0001c0001t0001g0197 others(122): Show |
135 | 342 | 0.3947 | -50 | c.-52 others(67): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
RGS13_chr1_192631147_192665311 | 192641190 | AAAAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 405 | 0.0025 | -50 | c.-5+ others(65): Show |
RGS13 | ENSG00000127074.15 | transcript | ENST00000391995.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGS6_chr14_71927429_72571530 | 72024076 | ACGAGGAC others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(65): Show |
68 | 130 | 0.5231 | -50 | c.84+ others(67): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
RHOC_chr1_112696131_112712127 | 112706464 | CCACACAC others(43): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 355 | 0.0028 | -50 | c.-77 others(65): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
RHOQ_chr2_46537490_46589688 | 46546469 | TATATGTG others(43): Show |
T | intron_variant | MODIFIER | HG02027.hp2 HG02965.hp2 HG03453.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0230 a0001c0001t0002g0074 a0001c0001t0002g0320 others(14): Show |
17 | 330 | 0.0515 | -50 | c.201 others(67): Show |
RHOQ | ENSG00000119729.12 | transcript | ENST00000238738.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RHOT2_chr16_663132_679171 | 665214 | ACCTCAGT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(297): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0014a0001c0018others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0072 others(90): Show |
300 | 366 | 0.8197 | -50 | c.-29 others(61): Show |
RHOT2 | ENSG00000140983.15 | transcript | ENST00000315082.9 | protein_coding | 2917 | chr16 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130574969 | GCCACCCC others(43): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01256.hp2 others(14): Show |
a0001a0010a0012 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0092 others(14): Show |
17 | 174 | 0.0977 | -50 | c.-21 others(71): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIPK4_chr21_41734373_41772052 | 41738118 | TGACAGCC others(43): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 446 | 0.0022 | -50 | c.*26 others(61): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 1254 | chr21 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20506478 | GGGAGGGA others(43): Show |
G | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 393 | 0.0025 | -50 | c.-6+ others(63): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF135_chr17_30966039_31004911 | 30979651 | AGGCGGGG others(43): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0027 a0002c0002t0004g0026 |
2 | 264 | 0.0076 | -50 | c.373 others(67): Show |
RNF135 | ENSG00000181481.14 | transcript | ENST00000328381.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF19A_chr8_100252067_100314953 | 100303892 | GCGTCACT others(43): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 348 | 0.0029 | -50 | c.-94 others(67): Show |
RNF19A | ENSG00000034677.13 | transcript | ENST00000341084.7 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
RNF212B_chr14_23232936_23278477 | 23273450 | TAAAGACG others(43): Show |
T | splice_region_variant | LOW | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 | 1 | 366 | 0.0027 | -50 | c.*56 others(59): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 15/15 | chr14 | TogoVar | |||||||
RNF212B_chr14_23232936_23278477 | 23274185 | AACATCAA others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 366 | 0.0027 | -50 | c.*12 others(61): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 709 | chr14 | TogoVar | |||||||
RNF212B_chr14_23232936_23278477 | 23277890 | CATGATCT others(43): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 366 | 0.0027 | -50 | c.*50 others(61): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 4414 | chr14 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1092989 | CCAGGGTC others(43): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(192): Show |
226 | 404 | 0.5594 | -50 | c.247 others(67): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
RNF214_chr11_117227671_117291454 | 117251481 | ACCCCCCC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(127): Show |
135 | 357 | 0.3782 | -50 | c.959 others(67): Show |
RNF214 | ENSG00000167257.11 | transcript | ENST00000300650.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RNF38_chr9_36331400_36405269 | 36341817 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 400 | 0.0025 | -50 | c.148 others(67): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
RNFT2_chr12_116733315_116858631 | 116841808 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01358.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0022others(2): Show | a0001c0001t0001g0069 a0001c0002t0001g0079 a0001c0002t0001g0080 others(4): Show |
7 | 261 | 0.0268 | -50 | c.120 others(69): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ROBO1_chr3_78592239_79772998 | 78842281 | ATTTATAT others(43): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0032 | 1 | 39 | 0.0256 | -50 | c.500 others(69): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 4/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 78842306 | ATTTATAT others(43): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 1 | 21 | 0.0476 | -50 | c.500 others(69): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 4/30 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77108251 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 125 | 0.0080 | -50 | c.388 others(67): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77164891 | GGGTCAGC others(43): Show |
G | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 | 1 | 160 | 0.0063 | -50 | c.388 others(69): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597573 | TACACATA others(43): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0020a0001c0007t0003 | a0001c0001t0001g0104 a0001c0001t0020g0040 a0001c0007t0003g0084 |
3 | 99 | 0.0303 | -50 | c.197 others(69): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 235678 | CTCTACAC others(43): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0030 others(52): Show |
55 | 132 | 0.4167 | -50 | c.613 others(69): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242524 | CCTTCCTC others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 132 | 0.0076 | -50 | c.613 others(67): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287291 | TCTCTCCA others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 132 | 0.0076 | -50 | c.352 others(67): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPL18A_chr19_17854910_17868319 | 17864928 | TCCCAGGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -50 | c.*16 others(61): Show |
RPL18A | ENSG00000105640.13 | transcript | ENST00000222247.10 | protein_coding | 1610 | chr19 | TogoVar | |||||||
RPS19_chr19_41855255_41877925 | 41865217 | TAGCCAGG others(43): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 388 | 0.0026 | -50 | c.173 others(67): Show |
RPS19 | ENSG00000105372.8 | transcript | ENST00000598742.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
RPS5_chr19_58382269_58399804 | 58390225 | TCTCTGCC others(43): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 430 | 0.0023 | -50 | c.108 others(67): Show |
RPS5 | ENSG00000083845.9 | transcript | ENST00000196551.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044342 | AGAAAGAA others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01433.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(15): Show | a0001c0001t0003g0079 a0001c0001t0003g0124 a0001c0001t0010g0078 others(16): Show |
19 | 304 | 0.0625 | -50 | c.103 others(69): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0103 | 1 | 79 | 0.0127 | -50 | c.472 others(67): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80811830 | GCCTCTCC others(43): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0032others(2): Show | a0001c0001t0015a0001c0003t0001a0001c0003t0014others(3): Show | a0001c0001t0015g0088 a0001c0003t0001g0190 a0001c0003t0014g0105 others(3): Show |
6 | 193 | 0.0311 | -50 | c.891 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864272 | ATGACGGC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0006a0001c0021a0001c0026others(2): Show | a0001c0006t0082a0001c0021t0018a0001c0021t0079others(3): Show | a0001c0006t0082g0015 a0001c0021t0018g0014 a0001c0021t0079g0006 others(3): Show |
6 | 194 | 0.0309 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864322 | GTGACGGC others(43): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01070.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0015a0001c0001t0019a0001c0002t0007others(19): Show | a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0002t0007g0136 others(20): Show |
23 | 188 | 0.1223 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80864341 | TACAGATT others(43): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0009a0001c0012a0001c0020others(1): Show | a0001c0009t0078a0001c0012t0003a0001c0020t0093others(1): Show | a0001c0009t0078g0021 a0001c0012t0003g0121 a0001c0012t0003g0123 others(2): Show |
5 | 175 | 0.0286 | -50 | c.150 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80896427 | GCCAACAC others(43): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0007a0001c0011a0001c0012others(4): Show | a0001c0007t0069a0001c0007t0084a0001c0007t0090others(7): Show | a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0007t0090g0025 others(7): Show |
10 | 76 | 0.1316 | -50 | c.240 others(69): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 20/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRP1B_chr21_43654560_43701079 | 43700527 | TTCCCAGC others(43): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -50 | c.*71 others(61): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 4449 | chr21 | TogoVar | |||||||
RSPRY1_chr16_57181329_57245469 | 57200953 | GGGGGGGG others(43): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 355 | 0.0028 | -50 | c.-15 others(69): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16645916 | ATATGTGT others(43): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 184 | 0.0054 | -50 | c.731 others(69): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar |