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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNLS_chr10_88279102_88588318 | 88524943 | TATATGGC others(10): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 232 | 0.0043 | -17 | c.526 others(36): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
RNMT_chr18_13721673_13769556 | 13728325 | TTTTTTTG others(10): Show |
T | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0286 | 1 | 376 | 0.0027 | -17 | c.-17 others(36): Show |
RNMT | ENSG00000101654.18 | transcript | ENST00000383314.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RNPC3_chr1_103520699_103560239 | 103525497 | GCCGCCGT others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01123.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0027others(34): Show | 51 | 370 | 0.1378 | -17 | c.-57 others(26): Show |
RNPC3 | ENSG00000185946.16 | transcript | ENST00000423855.7 | protein_coding | 201 | chr1 | TogoVar | ||||||
RNPEP_chr1_201977648_202011143 | 201984821 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0002 | a0001c0003t0001g0046a0001c0003t0001g0047a0001c0003t0001g0048others(4): Show | 7 | 454 | 0.0154 | -17 | c.447 others(34): Show |
RNPEP | ENSG00000176393.11 | transcript | ENST00000295640.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RNPS1_chr16_2248120_2273126 | 2267223 | GGAAAGGT others(10): Show |
G | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 374 | 0.0027 | -17 | c.-11 others(34): Show |
RNPS1 | ENSG00000205937.12 | transcript | ENST00000320225.10 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ROBO1_chr3_78592239_79772998 | 79234022 | GTTTTAAT others(10): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 44 | 0.0227 | -17 | c.89- others(36): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77090323 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 1 | 160 | 0.0063 | -17 | c.62- others(32): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77473440 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00735.hp2 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0075a0001c0001t0003g0029a0001c0001t0003g0048others(49): Show | 52 | 160 | 0.3250 | -17 | c.389 others(34): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO3_chr11_124860432_124886471 | 124881727 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0029 | a0002c0029t0004 | a0002c0029t0004g0053 | 1 | 402 | 0.0025 | -17 | c.*47 others(26): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 257 | chr11 | TogoVar | ||||||
ROBO3_chr11_124860432_124886471 | 124881729 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02717.hp1 others(3): Show |
a0002a0004a0006 | a0002c0006a0004c0005a0006c0008 | a0002c0006t0001a0004c0005t0001a0006c0008t0001 | a0002c0006t0001g0096a0004c0005t0001g0016a0006c0008t0001g0058 | 6 | 402 | 0.0149 | -17 | c.*48 others(26): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 259 | chr11 | TogoVar | ||||||
ROBO3_chr11_124860432_124886471 | 124881731 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(14): Show |
a0002a0003 | a0002c0006a0002c0018a0003c0002 | a0002c0006t0001a0002c0018t0001a0003c0002t0001 | a0002c0006t0001g0010a0002c0006t0001g0027a0002c0006t0001g0032others(6): Show | 17 | 402 | 0.0423 | -17 | c.*48 others(26): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 261 | chr11 | TogoVar | ||||||
ROBO3_chr11_124860432_124886471 | 124881733 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 NA19074.hp2 |
a0003a0006 | a0003c0002a0006c0008 | a0003c0002t0001a0006c0008t0001 | a0003c0002t0001g0003a0006c0008t0001g0059 | 2 | 402 | 0.0050 | -17 | c.*48 others(26): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 263 | chr11 | TogoVar | ||||||
ROBO3_chr11_124860432_124886471 | 124881737 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0023 | a0023c0038 | a0023c0038t0001 | a0023c0038t0001g0098 | 1 | 402 | 0.0025 | -17 | c.*48 others(26): Show |
ROBO3 | ENSG00000154134.15 | transcript | ENST00000397801.6 | protein_coding | 267 | chr11 | TogoVar | ||||||
ROBO4_chr11_124878691_124902865 | 124881727 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0118 | 1 | 400 | 0.0025 | -17 | c.*31 others(28): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1963 | chr11 | TogoVar | ||||||
ROBO4_chr11_124878691_124902865 | 124881729 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001a0002a0003 | a0001c0006a0002c0003a0003c0004 | a0001c0006t0004a0002c0003t0004a0003c0004t0007 | a0001c0006t0004g0051a0002c0003t0004g0028a0003c0004t0007g0021 | 6 | 400 | 0.0150 | -17 | c.*31 others(28): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1961 | chr11 | TogoVar | ||||||
ROBO4_chr11_124878691_124902865 | 124881731 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0007 | a0001c0007t0004a0001c0007t0008a0001c0007t0020 | a0001c0007t0004g0006a0001c0007t0004g0048a0001c0007t0004g0053others(2): Show | 17 | 400 | 0.0425 | -17 | c.*31 others(28): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1959 | chr11 | TogoVar | ||||||
ROBO4_chr11_124878691_124902865 | 124881733 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 NA19074.hp2 NA19084.hp2 |
a0001a0002 | a0001c0007a0002c0003 | a0001c0007t0004a0002c0003t0004 | a0001c0007t0004g0006a0002c0003t0004g0028 | 3 | 400 | 0.0075 | -17 | c.*31 others(28): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1957 | chr11 | TogoVar | ||||||
ROBO4_chr11_124878691_124902865 | 124881737 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0011 | 1 | 400 | 0.0025 | -17 | c.*31 others(28): Show |
ROBO4 | ENSG00000154133.15 | transcript | ENST00000306534.8 | protein_coding | 1953 | chr11 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11295973 | AGAGAGAG others(10): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18981.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0012a0001c0003t0048 | a0001c0003t0006g0298a0001c0003t0006g0306a0001c0003t0006g0308others(2): Show | 5 | 320 | 0.0156 | -17 | c.142 others(34): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROPN1L_chr5_10436879_10470026 | 10458457 | ATGTACAC others(10): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 374 | 0.0027 | -17 | c.418 others(34): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ROPN1L_chr5_10436879_10470026 | 10458769 | TCGTGTAC others(10): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 374 | 0.0027 | -17 | c.418 others(34): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ROPN1L_chr5_10436879_10470026 | 10458817 | CTCACCCA others(10): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 374 | 0.0027 | -17 | c.418 others(34): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
ROPN1L_chr5_10436879_10470026 | 10458830 | ACCATCCC others(10): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02165.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0054others(1): Show | 4 | 374 | 0.0107 | -17 | c.418 others(34): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ROPN1L_chr5_10436879_10470026 | 10458847 | CCCATCCC others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 374 | 0.0027 | -17 | c.418 others(34): Show |
ROPN1L | ENSG00000145491.12 | transcript | ENST00000274134.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ROR1_chr1_63769017_64186498 | 63846471 | GAAGATTT others(10): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0034 | 1 | 96 | 0.0104 | -17 | c.91+ others(34): Show |
ROR1 | ENSG00000185483.13 | transcript | ENST00000371079.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ROR2_chr9_91717601_91955228 | 91735606 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01167.hp1 others(13): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0037 | a0001c0001t0001a0003c0003t0002a0011c0037t0002 | a0001c0001t0001g0177a0003c0003t0002g0017a0003c0003t0002g0020others(13): Show | 16 | 226 | 0.0708 | -17 | c.622 others(34): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
ROR2_chr9_91717601_91955228 | 91909830 | TTTTTTAG others(10): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0226 | 1 | 226 | 0.0044 | -17 | c.97+ others(34): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
ROR2_chr9_91717601_91955228 | 91915639 | TGGGGGAG others(10): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0099 | 1 | 226 | 0.0044 | -17 | c.97+ others(34): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61071481 | GGGGAGGA others(10): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp2 HG01515.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0001t0002g0042others(25): Show | 28 | 118 | 0.2373 | -17 | c.166 others(38): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61167482 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02897.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0040a0001c0002t0055a0001c0003t0029 | a0001c0001t0040g0074a0001c0002t0055g0106a0001c0003t0029g0070 | 3 | 118 | 0.0254 | -17 | c.166 others(36): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61229303 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0018 | 1 | 118 | 0.0085 | -17 | c.-10 others(25): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2 | chr15 | TogoVar | ||||||
RORC_chr1_151801071_151836802 | 151825516 | GAGGGAAA others(10): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 430 | 0.0023 | -17 | c.70+ others(32): Show |
RORC | ENSG00000143365.20 | transcript | ENST00000318247.7 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
RP1L1_chr8_10601349_10660143 | 10623496 | TCACCATG others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0002a0003others(100): Show | a0001c0002a0001c0032a0001c0035others(126): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(144): Show | a0001c0002t0002g0239a0001c0002t0004g0011a0001c0002t0004g0015others(223): Show | 227 | 414 | 0.5483 | -17 | c.-19 others(32): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
RP1L1_chr8_10601349_10660143 | 10623511 | AACCACCA others(10): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0105 | a0105c0197 | a0105c0197t0017 | a0105c0197t0017g0403 | 1 | 414 | 0.0024 | -17 | c.-19 others(32): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
RPA1_chr17_1825005_1905082 | 1826491 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(126): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0048a0001c0001t0001g0142a0001c0001t0001g0149others(124): Show | 129 | 402 | 0.3209 | -17 | c.-36 others(28): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 3513 | chr17 | TogoVar | ||||||
RPA1_chr17_1825005_1905082 | 1895661 | ATTTATTT others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02735.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0121a0001c0006t0001g0233 | 2 | 402 | 0.0050 | -17 | c.174 others(34): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPA2_chr1_27886524_27919575 | 27918853 | CAACAACA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 364 | 0.0028 | -17 | c.-44 others(28): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 4279 | chr1 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7643717 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0260 | 1 | 308 | 0.0033 | -17 | c.-75 others(36): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7643718 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0054a0001c0001t0001g0061others(92): Show | 97 | 308 | 0.3149 | -17 | c.-75 others(36): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7660756 | GGTGAATC others(10): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01123.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0270a0001c0001t0001g0271a0001c0001t0003g0062others(18): Show | 21 | 308 | 0.0682 | -17 | c.-75 others(38): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPAP1_chr15_41512176_41549257 | 41515058 | AGGTGTAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0018 | a0018c0031 | a0018c0031t0001 | a0018c0031t0001g0064 | 1 | 414 | 0.0024 | -17 | c.*24 others(28): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 2117 | chr15 | TogoVar | ||||||
RPAP1_chr15_41512176_41549257 | 41531621 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02300.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0255a0007c0008t0001g0256 | 2 | 414 | 0.0048 | -17 | c.764 others(32): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | ||||||
RPAP1_chr15_41512176_41549257 | 41531623 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01517.hp2 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0247a0007c0008t0001g0253a0007c0008t0001g0262others(2): Show | 5 | 414 | 0.0121 | -17 | c.764 others(32): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | ||||||
RPAP1_chr15_41512176_41549257 | 41531625 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0270 | 1 | 414 | 0.0024 | -17 | c.764 others(32): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 6/24 | chr15 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92373733 | TAAAAATA others(10): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 192 | 0.0052 | -17 | c.168 others(36): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPGRIP1_chr14_21275083_21356301 | 21294830 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03540.hp1 |
a0001a0005 | a0001c0026a0005c0005 | a0001c0026t0001a0005c0005t0002 | a0001c0026t0001g0194a0005c0005t0002g0303 | 2 | 332 | 0.0060 | -17 | c.218 others(30): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 242283 | CTACCTTC others(10): Show |
C | intron_variant | MODIFIER | HG01515.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020 | a0001c0001t0012g0005a0001c0001t0020g0127 | 2 | 133 | 0.0150 | -17 | c.613 others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 242300 | TTACCTTC others(10): Show |
T | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 133 | 0.0075 | -17 | c.613 others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 242968 | CTACCTTC others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 133 | 0.0075 | -17 | c.613 others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 243024 | TTCCTCTA others(10): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0107 | 1 | 133 | 0.0075 | -17 | c.613 others(34): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar |