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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RMND5B_chr5_178126014_178155568 | 178155391 | AATTTTGT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 410 | 0.0024 | -32 | c.*73 others(43): Show |
RMND5B | ENSG00000145916.19 | transcript | ENST00000313386.9 | protein_coding | 4824 | chr5 | TogoVar | |||||||
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(25): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02074.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0096 others(13): Show |
17 | 77 | 0.2208 | -32 | c.554 others(47): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNF144B_chr6_18382350_18473870 | 18426744 | CTTTTTTC others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0068a0001c0001t0076others(2): Show | a0001c0001t0010g0010 a0001c0001t0010g0234 a0001c0001t0010g0235 others(9): Show |
13 | 384 | 0.0339 | -32 | c.166 others(47): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF144B_chr6_18382350_18473870 | 18426792 | GTCTTCTC others(25): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0110 | 1 | 384 | 0.0026 | -32 | c.166 others(47): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF144B_chr6_18382350_18473870 | 18446567 | TACTATGG others(25): Show |
T | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 | 1 | 384 | 0.0026 | -32 | c.331 others(49): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24882133 | GATAGATA others(25): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 67 | 0.0149 | -32 | c.*24 others(43): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2213 | chr13 | TogoVar | |||||||
RNF220_chr1_44400255_44656723 | 44502052 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 others(25): Show |
28 | 47 | 0.5957 | -32 | c.625 others(51): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF24_chr20_3922311_4020558 | 4013574 | GGAGTTCA others(25): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0249 | 1 | 360 | 0.0028 | -32 | c.-8+ others(47): Show |
RNF24 | ENSG00000101236.17 | transcript | ENST00000358395.11 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
RNF38_chr9_36331400_36405269 | 36341793 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0022 a0001c0001t0010g0021 |
2 | 373 | 0.0054 | -32 | c.148 others(49): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 11/11 | chr9 | TogoVar | |||||||
RNF38_chr9_36331400_36405269 | 36378012 | AACTTAAA others(25): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 400 | 0.0025 | -32 | c.163 others(49): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
RNFT2_chr12_116733315_116858631 | 116750859 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02486.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0005a0001c0002t0008a0001c0011t0023others(2): Show | a0001c0002t0005g0003 a0001c0002t0005g0062 a0001c0002t0008g0140 others(3): Show |
6 | 263 | 0.0228 | -32 | c.550 others(47): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
RNFT2_chr12_116733315_116858631 | 116841850 | TATATAAA others(25): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0001t0070a0001c0002t0002others(2): Show | a0001c0001t0014g0039 a0001c0001t0070g0068 a0001c0002t0002g0110 others(6): Show |
9 | 266 | 0.0338 | -32 | c.120 others(51): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNLS_chr10_88279102_88588318 | 88581297 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 232 | 0.0043 | -32 | c.367 others(47): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 78711428 | TTTCTTTC others(25): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 a0001c0002t0004g0017 |
2 | 44 | 0.0455 | -32 | c.104 others(51): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 8/30 | chr3 | TogoVar | |||||||
ROR1_chr1_63769017_64186498 | 63846118 | ATGTGTGT others(25): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0065 | 1 | 10 | 0.1000 | -32 | c.91+ others(49): Show |
ROR1 | ENSG00000185483.13 | transcript | ENST00000371079.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597565 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003a0001c0002t0021others(1): Show | a0001c0001t0007g0028 a0001c0002t0003g0013 a0001c0002t0003g0080 others(2): Show |
5 | 116 | 0.0431 | -32 | c.197 others(51): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61040113 | GATATATA others(25): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0052a0001c0005t0004 | a0001c0001t0052g0002 a0001c0005t0004g0107 |
2 | 26 | 0.0769 | -32 | c.166 others(53): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORB_chr9_74492335_74698177 | 74549531 | GGGAGGGA others(25): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0086 | 1 | 224 | 0.0045 | -32 | c.7+5 others(47): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74549535 | GGGAGGGA others(25): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp1 HG03098.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0183 others(9): Show |
12 | 192 | 0.0625 | -32 | c.7+5 others(47): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RORB_chr9_74492335_74698177 | 74549539 | GGGAGGGA others(25): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01891.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0132 a0001c0001t0003g0024 a0001c0001t0007g0100 others(10): Show |
13 | 139 | 0.0935 | -32 | c.7+5 others(47): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RP2_chrX_46832043_46887358 | 46836336 | AAAAGAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0189 a0001c0001t0004g0139 |
2 | 24 | 0.0833 | -32 | c.-76 others(41): Show |
RP2 | ENSG00000102218.6 | transcript | ENST00000218340.4 | protein_coding | 706 | chrX | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 307330 | CACGGCAG others(25): Show |
C | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056 | 1 | 132 | 0.0076 | -32 | c.351 others(51): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8381820 | TCGGGAGG others(25): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 420 | 0.0024 | -32 | c.168 others(47): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
RPP40_chr6_4989717_5009037 | 5000848 | ATGCAGAA others(25): Show |
A | intron_variant | MODIFIER | NA18955.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0102 a0003c0004t0004g0127 |
2 | 357 | 0.0056 | -32 | c.269 others(47): Show |
RPP40 | ENSG00000124787.14 | transcript | ENST00000380051.7 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
RPRD2_chr1_150359147_150481566 | 150428916 | TCTGTTGA others(25): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0244 | 1 | 316 | 0.0032 | -32 | c.335 others(51): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS13_chr11_17069388_17082667 | 17075373 | CAAACCAG others(25): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 406 | 0.0025 | -32 | c.321 others(45): Show |
RPS13 | ENSG00000110700.7 | transcript | ENST00000525634.6 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
RPS24_chr10_78028863_78045697 | 78031543 | AAAAAATA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0041 |
2 | 404 | 0.0050 | -32 | c.-23 others(43): Show |
RPS24 | ENSG00000138326.21 | transcript | ENST00000372360.9 | protein_coding | 2319 | chr10 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166465107 | CATTGGGT others(25): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0203 | 1 | 242 | 0.0041 | -32 | c.972 others(49): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 11/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166510554 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02145.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0025others(2): Show | a0001c0001t0001a0001c0003t0046a0001c0025t0001others(2): Show | a0001c0001t0001g0137 a0001c0003t0046g0021 a0001c0025t0001g0203 others(2): Show |
5 | 38 | 0.1316 | -32 | c.299 others(47): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA3_chrX_20144911_20271909 | 20255680 | TGGGAGGC others(25): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0061 a0001c0002t0001g0050 a0001c0002t0002g0001 others(33): Show |
37 | 210 | 0.1762 | -32 | c.69+ others(49): Show |
RPS6KA3 | ENSG00000177189.14 | transcript | ENST00000379565.9 | protein_coding | 1/21 | chrX | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044355 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA18906.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0157 | a0001c0001t0001g0136 a0001c0001t0024g0155 a0001c0001t0157g0144 |
3 | 258 | 0.0116 | -32 | c.103 others(51): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91044360 | AAAGAGAA others(25): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0051 | a0001c0001t0005g0298 a0001c0001t0051g0299 |
2 | 303 | 0.0066 | -32 | c.103 others(51): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59909226 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0263 a0001c0001t0004g0003 a0001c0001t0004g0220 others(7): Show |
11 | 13 | 0.8462 | -32 | c.142 others(49): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01433.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0011 | a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0257 others(5): Show |
8 | 86 | 0.0930 | -32 | c.472 others(49): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213122507 | CTAAATCT others(25): Show |
C | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 328 | 0.0030 | -32 | c.472 others(49): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS9_chr19_54195858_54212647 | 54211419 | AGGGCGTC others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 456 | 0.0022 | -32 | c.*38 others(43): Show |
RPS9 | ENSG00000170889.14 | transcript | ENST00000302907.9 | protein_coding | 3773 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80634674 | CTGTGTGT others(25): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0038 | a0001c0038t0006 | a0001c0038t0006g0178 | 1 | 187 | 0.0053 | -32 | c.265 others(49): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRBP1_chr20_17608679_17687242 | 17682501 | AGCGGCGC others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02970.hp1 others(1): Show |
a0012a0022 | a0012c0020a0012c0076a0022c0072 | a0012c0020t0002a0012c0076t0002a0022c0072t0002 | a0012c0020t0002g0296 a0012c0020t0002g0297 a0012c0076t0002g0298 others(1): Show |
4 | 348 | 0.0115 | -32 | c.-60 others(41): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 260 | chr20 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671122 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 a0001c0002t0016g0008 |
2 | 339 | 0.0059 | -32 | c.375 others(49): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671124 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA18967.hp2 NA18989.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0030 a0001c0002t0003g0072 |
2 | 315 | 0.0063 | -32 | c.375 others(49): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671126 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0073 | 1 | 332 | 0.0030 | -32 | c.375 others(49): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6776900 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0074 | 1 | 106 | 0.0094 | -32 | c.141 others(49): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | chr7 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23130059 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01257.hp2 others(15): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0001a0003c0004t0001a0004c0006t0002 | a0001c0001t0001g0007 a0001c0001t0001g0150 a0001c0001t0001g0162 others(14): Show |
18 | 172 | 0.1047 | -32 | c.421 others(49): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477192 | CCCCACAG others(25): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01074.hp2 others(38): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0145 others(35): Show |
41 | 403 | 0.1017 | -32 | c.727 others(45): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477207 | ATGCCCCA others(25): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0304 a0001c0001t0003g0019 |
3 | 263 | 0.0114 | -32 | c.727 others(45): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH9_chr6_43640036_43677600 | 43646687 | GTGTGGTG others(25): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 340 | 0.0029 | -32 | c.227 others(49): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPO3_chr6_127113671_127204481 | 127117978 | AAGAAAGA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 308 | 0.0065 | -32 | c.-12 others(43): Show |
RSPO3 | ENSG00000146374.14 | transcript | ENST00000356698.9 | protein_coding | 692 | chr6 | TogoVar | |||||||
RSRC2_chr12_122498454_122531936 | 122511892 | CGCCTCCT others(25): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0067 | 1 | 379 | 0.0026 | -32 | c.726 others(47): Show |
RSRC2 | ENSG00000111011.18 | transcript | ENST00000331738.12 | protein_coding | 6/9 | chr12 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16646031 | TGTGTATA others(25): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0097 a0001c0002t0001g0101 a0001c0002t0002g0053 others(3): Show |
6 | 188 | 0.0319 | -32 | c.731 others(51): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112190139 | CCTTTCTT others(25): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0034 | 1 | 61 | 0.0164 | -32 | c.-44 others(53): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |