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 | 166517455 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 42 | 0.0238 | -20 | c.299 others(37): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166568621 | GAAAAAAA others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 |
a0001 | a0001c0007a0001c0010 | a0001c0007t0001a0001c0010t0008 | a0001c0007t0001g0232 a0001c0010t0008g0218 |
2 | 4 | 0.5000 | -20 | c.100 others(39): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90885552 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0198 | 1 | 45 | 0.0222 | -20 | c.183 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90892565 | TCTTAATC others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(74): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(59): Show | a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0008g0233 others(74): Show |
77 | 304 | 0.2533 | -20 | c.164 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 13/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 90895152 | GAGGCCTG others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(202): Show | a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 others(251): Show |
254 | 304 | 0.8355 | -20 | c.147 others(37): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 12/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91020534 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(106): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(86): Show | a0001c0001t0003g0023 a0001c0001t0003g0061 a0001c0001t0003g0079 others(106): Show |
109 | 146 | 0.7466 | -20 | c.104 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044356 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp1 HG03688.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0036a0001c0001t0061others(9): Show | a0001c0001t0001g0169 a0001c0001t0036g0167 a0001c0001t0061g0142 others(9): Show |
12 | 298 | 0.0403 | -20 | c.103 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044359 | GAAAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0239 | a0001c0001t0239g0040 | 1 | 297 | 0.0034 | -20 | c.103 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044392 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0201a0001c0001t0224 | a0001c0001t0201g0286 a0001c0001t0224g0292 |
2 | 188 | 0.0106 | -20 | c.103 others(39): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91062558 | AATATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0235 | a0001c0001t0235g0042 | 1 | 263 | 0.0038 | -20 | c.-21 others(31): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1918 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91062592 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0003 | a0001c0003t0085 | a0001c0003t0085g0160 | 1 | 301 | 0.0033 | -20 | c.-21 others(31): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1952 | chr14 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59900171 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02486.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0237 a0001c0001t0005g0018 a0001c0001t0006g0294 others(1): Show |
4 | 38 | 0.1053 | -20 | c.141 others(37): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KB1_chr17_59888121_59955574 | 59909226 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 3 | 0.3333 | -20 | c.142 others(37): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0098 others(14): Show |
17 | 95 | 0.1789 | -20 | c.472 others(37): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213257786 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 9 | 0.1111 | -20 | c.291 others(39): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS7_chr2_3570260_3585920 | 3585472 | GCTGTGCT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show |
118 | 425 | 0.2776 | -20 | c.*45 others(31): Show |
RPS7 | ENSG00000171863.15 | transcript | ENST00000645674.2 | protein_coding | 4553 | chr2 | TogoVar | |||||||
RPS7_chr2_3570260_3585920 | 3585502 | AGATCTCA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02630.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
18 | 336 | 0.0536 | -20 | c.*46 others(31): Show |
RPS7 | ENSG00000171863.15 | transcript | ENST00000645674.2 | protein_coding | 4583 | chr2 | TogoVar | |||||||
RPS8_chr1_44770540_44783779 | 44782629 | CAAATAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01884.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(3): Show |
33 | 136 | 0.2426 | -20 | c.*39 others(31): Show |
RPS8 | ENSG00000142937.12 | transcript | ENST00000396651.8 | protein_coding | 3851 | chr1 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23768170 | ATATGTTT others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(351): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(144): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0245 others(347): Show |
354 | 364 | 0.9725 | -20 | c.-30 others(39): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPSA_chr3_39401720_39417542 | 39406645 | GCCCTTCT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0047 a0001c0002t0002g0048 |
3 | 382 | 0.0079 | -20 | c.-15 others(29): Show |
RPSA | ENSG00000168028.15 | transcript | ENST00000301821.11 | protein_coding | 74 | chr3 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80561243 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02015.hp1 HG02273.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0011others(6): Show | a0001c0002t0007a0001c0003t0001a0001c0011t0024others(7): Show | a0001c0002t0007g0136 a0001c0003t0001g0156 a0001c0011t0024g0148 others(7): Show |
10 | 194 | 0.0515 | -20 | c.162 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80591182 | CTCTCCTC others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01070.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(32): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(33): Show |
36 | 189 | 0.1905 | -20 | c.163 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80591202 | ATCTCCTC others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(54): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(48): Show | a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(54): Show |
57 | 98 | 0.5816 | -20 | c.163 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80674787 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0067 | a0001c0005t0067g0111 | 1 | 7 | 0.1429 | -20 | c.348 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80674806 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0059 | a0001c0059t0080 | a0001c0059t0080g0005 | 1 | 194 | 0.0052 | -20 | c.348 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80692278 | CGTTATGT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(34): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(28): Show | a0001c0002t0017a0001c0003t0001a0001c0004t0001others(30): Show | a0001c0002t0017g0118 a0001c0003t0001g0156 a0001c0004t0001g0152 others(34): Show |
37 | 84 | 0.4405 | -20 | c.349 others(39): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD1_chr16_779974_793381 | 780500 | GTGTAGGT others(13): Show |
G | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 408 | 0.0025 | -20 | c.*54 others(31): Show |
RPUSD1 | ENSG00000007376.8 | transcript | ENST00000007264.7 | protein_coding | 4473 | chr16 | TogoVar | |||||||
RPUSD1_chr16_779974_793381 | 780747 | TGTGTGCA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0008 others(14): Show |
55 | 408 | 0.1348 | -20 | c.*51 others(31): Show |
RPUSD1 | ENSG00000007376.8 | transcript | ENST00000007264.7 | protein_coding | 4226 | chr16 | TogoVar | |||||||
RPUSD4_chr11_126197096_126216650 | 126214494 | TTTTTTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0063 | 1 | 406 | 0.0025 | -20 | c.-28 others(31): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2845 | chr11 | TogoVar | |||||||
RRAGA_chr9_19044427_19056025 | 19045690 | TTTCTTCA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 444 | 0.0023 | -20 | c.-39 others(31): Show |
RRAGA | ENSG00000155876.6 | transcript | ENST00000380527.3 | protein_coding | 3736 | chr9 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38839462 | ACAAGCAG others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0140 | 1 | 416 | 0.0024 | -20 | c.*71 others(27): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 7/7 | 71 | chr1 | TogoVar | ||||||
RRAGD_chr6_89359616_89417273 | 89362773 | GATGGATG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01261.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0012 others(54): Show |
61 | 370 | 0.1649 | -20 | c.*52 others(31): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1842 | chr6 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14293124 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 52 | 0.0192 | -20 | c.408 others(37): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7103282 | TATGTTAA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02895.hp1 HG02897.hp1 others(5): Show |
a0001a0005a0013others(2): Show | a0001c0001a0005c0003a0013c0013others(2): Show | a0001c0001t0081a0005c0003t0033a0005c0003t0078others(3): Show | a0001c0001t0081g0235 a0005c0003t0033g0230 a0005c0003t0033g0232 others(5): Show |
8 | 290 | 0.0276 | -20 | c.-50 others(31): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 4678 | chr6 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7108382 | CCAACCAG others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0004 | a0002c0004t0071 | a0002c0004t0071g0226 | 1 | 290 | 0.0034 | -20 | c.-28 others(37): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7117388 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0039 | a0039c0047 | a0039c0047t0027 | a0039c0047t0027g0209 | 1 | 35 | 0.0286 | -20 | c.-28 others(39): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7173765 | CTTTCAGC others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0023 | a0023c0072 | a0023c0072t0077 | a0023c0072t0077g0242 | 1 | 290 | 0.0034 | -20 | c.-28 others(39): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7187540 | CTTTTATT others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 |
a0019a0022 | a0019c0033a0022c0048 | a0019c0033t0080a0022c0048t0006 | a0019c0033t0080g0233 a0022c0048t0006g0197 |
2 | 142 | 0.0141 | -20 | c.261 others(33): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7211320 | GTGGATGG others(13): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0188 | 1 | 290 | 0.0034 | -20 | c.571 others(35): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRH_chr4_109822972_109849942 | 109828560 | ATAACCCT others(13): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 400 | 0.0025 | -20 | c.106 others(35): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RRM2B_chr8_102199502_102243961 | 102205916 | ATTGCTAT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0033 | a0001c0001t0005g0023 a0001c0001t0005g0052 a0001c0001t0005g0255 others(9): Show |
15 | 384 | 0.0391 | -20 | c.*21 others(31): Show |
RRM2B | ENSG00000048392.13 | transcript | ENST00000251810.8 | protein_coding | 9/9 | 2197 | chr8 | TogoVar | ||||||
RRP1B_chr21_43654560_43701079 | 43675843 | CATTTTAT others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0182 | 1 | 260 | 0.0038 | -20 | c.550 others(35): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RRP1B_chr21_43654560_43701079 | 43681261 | CAGATAGA others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02109.hp2 others(26): Show |
a0001a0003a0006others(1): Show | a0001c0005a0003c0004a0006c0016others(1): Show | a0001c0005t0010a0001c0005t0024a0003c0004t0004others(4): Show | a0001c0005t0010g0101 a0001c0005t0010g0102 a0001c0005t0010g0103 others(16): Show |
29 | 224 | 0.1295 | -20 | c.797 others(37): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RRP1_chr21_43784577_43810293 | 43785099 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 392 | 0.0026 | -20 | c.-45 others(31): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 4477 | chr21 | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18636363 | ATTATTAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 305 | 0.0033 | -20 | c.*56 others(31): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3324 | chrX | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671138 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 218 | 0.0046 | -20 | c.375 others(37): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77798581 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 12 | 0.0833 | -20 | c.187 others(39): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6776873 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG03688.hp1 HG03688.hp2 |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0001a0006c0010t0001 | a0003c0004t0001g0103 a0006c0010t0001g0034 |
2 | 14 | 0.1429 | -20 | c.141 others(37): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH14_chr22_23054415_23146990 | 23130064 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01934.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0015 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0165 others(9): Show |
12 | 312 | 0.0385 | -20 | c.421 others(37): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23130084 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02818.hp2 HG04204.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0155 a0001c0002t0001g0024 a0001c0002t0001g0026 others(2): Show |
5 | 208 | 0.0240 | -20 | c.421 others(37): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar |