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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KA2_chr6_166404364_166632251 | 166480479 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG02486.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0015a0001c0040others(2): Show | a0001c0001t0001a0001c0015t0004a0001c0040t0001others(2): Show | a0001c0001t0001g0086 a0001c0015t0004g0050 a0001c0040t0001g0024 others(2): Show |
5 | 244 | 0.0205 | -8 | c.907 others(25): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166496357 | ATAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0141 others(76): Show |
79 | 244 | 0.3238 | -8 | c.747 others(25): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 8/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166510554 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03579.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001a0001c0023a0001c0061others(1): Show | a0001c0001t0001a0001c0023t0001a0001c0061t0015others(1): Show | a0001c0001t0001g0211 a0001c0023t0001g0054 a0001c0061t0015g0073 others(1): Show |
4 | 244 | 0.0164 | -8 | c.299 others(23): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166526341 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0006a0001c0015a0001c0016others(4): Show | a0001c0006t0004a0001c0006t0005a0001c0006t0027others(7): Show | a0001c0006t0004g0149 a0001c0006t0004g0183 a0001c0006t0005g0129 others(10): Show |
13 | 244 | 0.0533 | -8 | c.298 others(25): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166625320 | ACCACCCC others(1): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA18939.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0002a0001c0012t0042 | a0001c0003t0001g0063 a0001c0012t0002g0060 a0001c0012t0002g0062 others(1): Show |
4 | 244 | 0.0164 | -8 | c.99+ others(23): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90876305 | CATGTAAC others(1): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0229a0001c0001t0230a0001c0001t0231 | a0001c0001t0229g0224 a0001c0001t0230g0226 a0001c0001t0231g0225 |
3 | 306 | 0.0098 | -8 | c.183 others(25): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91020614 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0222a0001c0001t0223a0001c0001t0238others(2): Show | a0001c0001t0222g0217 a0001c0001t0223g0218 a0001c0001t0238g0012 others(2): Show |
5 | 306 | 0.0163 | -8 | c.104 others(27): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044271 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0166a0001c0001t0245 | a0001c0001t0005g0294 a0001c0001t0166g0270 a0001c0001t0245g0268 |
3 | 306 | 0.0098 | -8 | c.103 others(27): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044384 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG02135.hp1 HG02886.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0189a0001c0001t0190a0001c0001t0229 | a0001c0001t0189g0216 a0001c0001t0190g0213 a0001c0001t0229g0224 |
3 | 306 | 0.0098 | -8 | c.103 others(27): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044392 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021a0001c0001t0107others(7): Show | a0001c0001t0005g0294 a0001c0001t0021g0248 a0001c0001t0021g0249 others(8): Show |
11 | 306 | 0.0360 | -8 | c.103 others(27): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91051243 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(13): Show | a0001c0001t0005g0298 a0001c0001t0010g0064 a0001c0001t0014g0209 others(13): Show |
16 | 306 | 0.0523 | -8 | c.103 others(25): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91056867 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0170a0001c0001t0221others(4): Show | a0001c0001t0011g0239 a0001c0001t0011g0240 a0001c0001t0170g0219 others(5): Show |
8 | 306 | 0.0261 | -8 | c.103 others(25): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91062604 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(17): Show | a0001c0001t0001g0138 a0001c0001t0009g0020 a0001c0001t0009g0065 others(19): Show |
22 | 306 | 0.0719 | -8 | c.-21 others(19): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1964 | chr14 | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84059114 | CTTTTTTT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0098 | a0002c0002t0098g0160 | 1 | 272 | 0.0037 | -8 | c.*51 others(19): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 22/22 | 5155 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84060323 | ATTTTTTT others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0251 | 1 | 272 | 0.0037 | -8 | c.*39 others(19): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 22/22 | 3946 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84075232 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00673.hp1 others(51): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0009others(14): Show | a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 others(50): Show |
54 | 272 | 0.1985 | -8 | c.197 others(29): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 20/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84138801 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp2 others(132): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
135 | 272 | 0.4963 | -8 | c.502 others(25): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 6/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84182057 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02630.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0034a0001c0001t0035others(1): Show | a0001c0001t0008g0236 a0001c0001t0034g0015 a0001c0001t0035g0016 others(1): Show |
4 | 272 | 0.0147 | -8 | c.81+ others(23): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 1/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84182059 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0095 | a0002c0002t0095g0070 | 1 | 272 | 0.0037 | -8 | c.81+ others(23): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 1/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84182061 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0256 | 1 | 272 | 0.0037 | -8 | c.81+ others(23): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 1/21 | chrX | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59895318 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 others(14): Show |
17 | 304 | 0.0559 | -8 | c.141 others(25): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59900171 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0205 others(5): Show |
8 | 304 | 0.0263 | -8 | c.141 others(25): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59904068 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 a0001c0001t0006g0233 a0001c0001t0006g0234 others(2): Show |
5 | 304 | 0.0165 | -8 | c.142 others(25): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59908613 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(18): Show |
21 | 304 | 0.0691 | -8 | c.142 others(25): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59938699 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0158 a0001c0001t0005g0004 a0001c0001t0005g0008 others(5): Show |
8 | 304 | 0.0263 | -8 | c.112 others(27): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213068873 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02055.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0309 a0001c0001t0003g0286 a0001c0001t0003g0287 others(4): Show |
7 | 330 | 0.0212 | -8 | c.106 others(25): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0140 a0001c0001t0002g0158 others(1): Show |
4 | 330 | 0.0121 | -8 | c.472 others(25): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213147215 | ATTTTTTG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00609.hp1 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0011 | a0002c0002t0001g0002 a0002c0002t0001g0245 a0002c0002t0001g0246 others(23): Show |
26 | 330 | 0.0788 | -8 | c.835 others(27): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213150295 | GTTATTTA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(156): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0007a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 others(156): Show |
159 | 330 | 0.4818 | -8 | c.836 others(27): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213167439 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp1 HG02109.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0241 others(4): Show |
7 | 330 | 0.0212 | -8 | c.836 others(23): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213178186 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02129.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 others(16): Show |
19 | 330 | 0.0576 | -8 | c.104 others(27): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213205539 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 others(4): Show |
7 | 330 | 0.0212 | -8 | c.104 others(29): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213256038 | GGTTTCCA others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0001g0215 a0001c0001t0001g0217 others(11): Show |
14 | 330 | 0.0424 | -8 | c.291 others(27): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213266902 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 others(129): Show |
132 | 330 | 0.4000 | -8 | c.309 others(27): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS8_chr1_44770540_44783779 | 44782629 | CAAATAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
97 | 402 | 0.2413 | -8 | c.*39 others(19): Show |
RPS8 | ENSG00000142937.12 | transcript | ENST00000396651.8 | protein_coding | 3851 | chr1 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23806001 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02818.hp2 HG02970.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0013a0004c0004t0048 | a0004c0004t0013g0003 a0004c0004t0013g0009 a0004c0004t0013g0010 others(2): Show |
6 | 366 | 0.0164 | -8 | c.-30 others(27): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23810415 | AAAAAAGG others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03453.hp1 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0001a0001c0001t0023a0001c0001t0104others(2): Show | a0001c0001t0001g0282 a0001c0001t0023g0349 a0001c0001t0023g0350 others(4): Show |
7 | 366 | 0.0191 | -8 | c.-93 others(25): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80566823 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(72): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(55): Show | a0001c0002t0008a0001c0002t0017a0001c0003t0001others(66): Show | a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(72): Show |
75 | 196 | 0.3827 | -8 | c.162 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80598882 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0015a0001c0016a0001c0049 | a0001c0015t0046a0001c0016t0031a0001c0049t0011 | a0001c0015t0046g0079 a0001c0016t0031g0010 a0001c0016t0031g0011 others(1): Show |
4 | 196 | 0.0204 | -8 | c.163 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80684404 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(75): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(67): Show | a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(75): Show |
78 | 196 | 0.3980 | -8 | c.349 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80710571 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(67): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(45): Show | a0001c0001t0015a0001c0002t0008a0001c0002t0015others(62): Show | a0001c0001t0015g0085 a0001c0002t0008g0131 a0001c0002t0015g0086 others(67): Show |
70 | 196 | 0.3571 | -8 | c.507 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80810048 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02683.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0003a0001c0007a0001c0021others(1): Show | a0001c0003t0001a0001c0007t0030a0001c0021t0065others(1): Show | a0001c0003t0001g0182 a0001c0007t0030g0018 a0001c0007t0030g0020 others(2): Show |
5 | 196 | 0.0255 | -8 | c.891 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80823641 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02970.hp2 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(5): Show | a0001c0003t0038a0001c0005t0067a0001c0007t0084others(6): Show | a0001c0003t0038g0087 a0001c0005t0067g0111 a0001c0007t0084g0007 others(6): Show |
9 | 196 | 0.0459 | -8 | c.113 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80896427 | GCCAACAC others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0014a0001c0017a0001c0052 | a0001c0014t0002a0001c0017t0005a0001c0052t0003 | a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0017t0005g0067 others(1): Show |
4 | 196 | 0.0204 | -8 | c.240 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 20/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80927606 | GTGTCTGT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01258.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0004a0001c0013a0001c0033others(1): Show | a0001c0004t0001a0001c0013t0089a0001c0033t0023others(2): Show | a0001c0004t0001g0152 a0001c0013t0089g0047 a0001c0033t0023g0075 others(2): Show |
5 | 196 | 0.0255 | -8 | c.291 others(27): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRAGA_chr9_19044427_19056025 | 19045436 | CTGCAAAG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show |
175 | 446 | 0.3924 | -8 | c.-42 others(19): Show |
RRAGA | ENSG00000155876.6 | transcript | ENST00000380527.3 | protein_coding | 3990 | chr9 | TogoVar | |||||||
RRAGB_chrX_55712749_55763774 | 55750184 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 276 | 0.0036 | -8 | c.517 others(23): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RRAGC_chr1_38833198_38864772 | 38836544 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(163): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(75): Show |
166 | 418 | 0.3971 | -8 | c.*30 others(19): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1653 | chr1 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38847431 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0020 a0001c0002t0005g0031 |
5 | 418 | 0.0120 | -8 | c.900 others(25): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38850512 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02572.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0076 others(3): Show |
12 | 418 | 0.0287 | -8 | c.899 others(25): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 5/6 | chr1 | TogoVar |