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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASSF3_chr12_64605495_64702564 | 64633091 | CTGTTTCT others(18): Show |
C | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0239 | 1 | 370 | 0.0027 | -25 | c.111 others(44): Show |
RASSF3 | ENSG00000153179.14 | transcript | ENST00000542104.6 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
RB1CC1_chr8_52617458_52719435 | 52698669 | GGTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 NA19030.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011a0002c0001t0001g0012a0002c0001t0001g0013 | 3 | 306 | 0.0098 | -25 | c.-16 others(46): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
RBAK_chr7_5040860_5074487 | 5041905 | AATGAACT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0005a0007c0013others(1): Show | a0001c0002t0033a0002c0005t0010a0002c0005t0015others(4): Show | a0001c0002t0033g0072a0002c0005t0010g0032a0002c0005t0010g0034others(10): Show | 16 | 438 | 0.0365 | -25 | c.-45 others(36): Show |
RBAK | ENSG00000146587.18 | transcript | ENST00000396912.2 | protein_coding | 3954 | chr7 | TogoVar | ||||||
RBBP5_chr1_205081142_205126978 | 205093480 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044a0001c0001t0049others(1): Show | a0001c0001t0001g0200a0001c0001t0044g0186a0001c0001t0049g0195others(1): Show | 4 | 390 | 0.0103 | -25 | c.158 others(44): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16844063 | TTGCACCA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0002g0240 | 3 | 316 | 0.0095 | -25 | c.*94 others(34): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 277 | chrX | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16869989 | CCGCCGCC others(18): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 316 | 0.0032 | -25 | c.16+ others(36): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 1/11 | chrX | TogoVar | ||||||
RBBP7_chrX_16839341_16875362 | 16870601 | GGATGGGG others(18): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 316 | 0.0032 | -25 | c.-57 others(34): Show |
RBBP7 | ENSG00000102054.18 | transcript | ENST00000380087.7 | protein_coding | 240 | chrX | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6043120 | GAAAAAAA others(18): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03195.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030a0001c0001t0040 | a0001c0001t0002g0007a0001c0001t0030g0024a0001c0001t0040g0064 | 3 | 68 | 0.0441 | -25 | c.-12 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6350444 | GAAAAAAA others(18): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 68 | 0.0147 | -25 | c.-64 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6459984 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0027others(1): Show | a0001c0001t0003g0041a0001c0001t0006g0038a0001c0001t0027g0042others(1): Show | 4 | 68 | 0.0588 | -25 | c.-64 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487687 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 68 | 0.0147 | -25 | c.-63 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6722475 | GCATATTC others(18): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0042 | a0001c0001t0001g0030a0001c0001t0003g0006a0001c0001t0042g0022 | 3 | 68 | 0.0441 | -25 | c.-16 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6986146 | AACCCTTA others(18): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02622.hp2 HG02965.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0028a0001c0001t0003g0006a0001c0001t0003g0050others(12): Show | 15 | 68 | 0.2206 | -25 | c.-15 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7229663 | GCAAAGGA others(18): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 68 | 0.0147 | -25 | c.27+ others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7546328 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0001g0028others(52): Show | 55 | 68 | 0.8088 | -25 | c.270 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_7327845_7718340 | 7546328 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(67): Show | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0042others(189): Show | 192 | 234 | 0.8205 | -25 | c.330 others(44): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX2_chr22_35733736_36033824 | 35875606 | GGGTGTGT others(18): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0101 | 1 | 120 | 0.0083 | -25 | c.237 others(44): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 2/13 | chr22 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79182739 | GCCTCCCT others(18): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 154 | 0.0065 | -25 | c.-34 others(44): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79393919 | ACATCTGA others(18): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01346.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0069others(15): Show | 18 | 154 | 0.1169 | -25 | c.-17 others(46): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79491033 | AGAGGGGA others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0142a0001c0001t0006g0125 | 2 | 154 | 0.0130 | -25 | c.-31 others(44): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110683035 | ATGATCAC others(18): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0118a0001c0001t0002g0191a0001c0003t0001g0058others(3): Show | 6 | 268 | 0.0224 | -25 | c.191 others(44): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RBM26_chr13_79313868_79411255 | 79391988 | AATACATT others(18): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0311 | 3 | 328 | 0.0092 | -25 | c.72- others(42): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 1/21 | chr13 | TogoVar | ||||||
RBM27_chr5_146198605_146294223 | 146290869 | GTTTTTTT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp1 HG03453.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0073a0001c0002t0003g0037a0001c0002t0003g0039 | 3 | 272 | 0.0110 | -25 | c.*48 others(36): Show |
RBM27 | ENSG00000091009.8 | transcript | ENST00000265271.7 | protein_coding | 1647 | chr5 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155785374 | AACATGTA others(18): Show |
A | downstream_gene_variant | MODIFIER | NA19087.hp1 | a0005 | a0005c0012 | a0005c0012t0008 | a0005c0012t0008g0267 | 1 | 306 | 0.0033 | -25 | c.*10 others(38): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3895 | chr7 | TogoVar | ||||||
RBM39_chr20_35696347_35747260 | 35702451 | TGGCACAG others(18): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023a0001c0001t0007g0024a0001c0001t0007g0025others(7): Show | 10 | 274 | 0.0365 | -25 | c.*20 others(36): Show |
RBM39 | ENSG00000131051.24 | transcript | ENST00000253363.11 | protein_coding | 17/17 | 2005 | chr20 | TogoVar | |||||
RBM47_chr4_40418280_40634864 | 40423688 | CTTTCTTT others(18): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18948.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0126 | a0001c0001t0086g0015a0001c0001t0126g0241 | 2 | 278 | 0.0072 | -25 | c.*21 others(36): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 7/7 | 2191 | chr4 | TogoVar | |||||
RBM47_chr4_40418280_40634864 | 40592957 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0036 | 1 | 278 | 0.0036 | -25 | c.-24 others(46): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40592959 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0079 | 1 | 278 | 0.0036 | -25 | c.-24 others(46): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM6_chr3_49935150_50082249 | 49984611 | ACATCGCA others(18): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01070.hp2 others(33): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(33): Show | 36 | 218 | 0.1651 | -25 | c.148 others(44): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBMS2_chr12_56516820_56601193 | 56597575 | CACACACA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0240a0001c0002t0003g0250 | 2 | 280 | 0.0071 | -25 | c.*84 others(36): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1383 | chr12 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29526520 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02559.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015a0001c0001t0020others(2): Show | a0001c0001t0012g0004a0001c0001t0012g0036a0001c0001t0015g0029others(3): Show | 6 | 116 | 0.0517 | -25 | c.307 others(44): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBMS3_chr3_29276071_30015386 | 29582155 | TAGATAGA others(18): Show |
T | intron_variant | MODIFIER | HG01934.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0042a0001c0001t0029g0116 | 2 | 116 | 0.0172 | -25 | c.308 others(42): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | chr3 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30511477 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 304 | 0.0033 | -25 | c.397 others(42): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30511479 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01243.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(17): Show | 20 | 304 | 0.0658 | -25 | c.397 others(42): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30511481 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0027others(7): Show | 10 | 304 | 0.0329 | -25 | c.397 others(42): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBSN_chr3_15065073_15104148 | 15078772 | AAAAATAC others(18): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01069.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0028 | a0002c0002t0004g0025a0002c0002t0004g0027a0002c0002t0004g0233others(3): Show | 8 | 360 | 0.0222 | -25 | c.912 others(40): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122868871 | GTGTGTGT others(18): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0215a0001c0001t0001g0216others(23): Show | 27 | 320 | 0.0844 | -25 | c.132 others(44): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG04204.hp1 NA18947.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0119a0001c0001t0001g0198 | 3 | 294 | 0.0102 | -25 | c.442 others(42): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RCHY1_chr4_75474033_75519403 | 75487460 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0069 | 1 | 406 | 0.0025 | -25 | c.657 others(42): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102632611 | ATCCTTTC others(18): Show |
A | intron_variant | MODIFIER | NA18969.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245a0001c0001t0002g0248 | 2 | 292 | 0.0069 | -25 | c.361 others(44): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RDH8_chr19_10008483_10027279 | 10022671 | GTCTCAAA others(18): Show |
G | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0120 | 1 | 464 | 0.0022 | -25 | c.*92 others(34): Show |
RDH8 | ENSG00000080511.5 | transcript | ENST00000591589.3 | protein_coding | 393 | chr19 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36104316 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 392 | 0.0026 | -25 | c.143 others(42): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RELA_chr11_65648601_65667916 | 65664328 | CTGTATTG others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18955.hp2 NA18977.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0031 | 4 | 404 | 0.0099 | -25 | c.-15 others(36): Show |
RELA | ENSG00000173039.20 | transcript | ENST00000406246.8 | protein_coding | 1413 | chr11 | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8501428 | GGGCGCCT others(18): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG03195.hp2 others(1): Show |
a0001a0007 | a0001c0004a0001c0009a0001c0019others(1): Show | a0001c0004t0040a0001c0009t0041a0001c0019t0014others(1): Show | a0001c0004t0040g0199a0001c0009t0041g0198a0001c0019t0014g0119others(1): Show | 4 | 204 | 0.0196 | -25 | c.880 others(42): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | ||||||
RETREG1_chr5_16468053_16621997 | 16581542 | CACACACA others(18): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 294 | 0.0034 | -25 | c.321 others(42): Show |
RETREG1 | ENSG00000154153.15 | transcript | ENST00000306320.10 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
RETREG2_chr2_219173275_219190475 | 219188597 | TTTTTATT others(18): Show |
T | downstream_gene_variant | MODIFIER | NA18992.hp2 NA19074.hp2 NA21309.hp2 |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0027a0003c0004t0003 | a0001c0005t0027g0020a0003c0004t0003g0003 | 3 | 430 | 0.0070 | -25 | c.*59 others(36): Show |
RETREG2 | ENSG00000144567.11 | transcript | ENST00000430297.7 | protein_coding | 3123 | chr2 | TogoVar | ||||||
RETSAT_chr2_85336955_85359528 | 85356886 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 384 | 0.0026 | -25 | c.-24 others(36): Show |
RETSAT | ENSG00000042445.14 | transcript | ENST00000295802.9 | protein_coding | 2359 | chr2 | TogoVar | ||||||
REV1_chr2_99395477_99495017 | 99412197 | CACTCCAC others(18): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18941.hp1 NA18945.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0090a0003c0003t0001g0100a0003c0003t0003g0089others(4): Show | 7 | 324 | 0.0216 | -25 | c.217 others(42): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 13/22 | chr2 | TogoVar | ||||||
REV3L_chr6_111294033_111488218 | 111303676 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA18971.hp1 NA18993.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167a0002c0002t0001g0233a0002c0002t0001g0234others(2): Show | 5 | 288 | 0.0174 | -25 | c.925 others(44): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | ||||||
RFC4_chr3_186784900_186811482 | 186787017 | CAAAGGGC others(18): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02155.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0052a0001c0001t0001g0053others(8): Show | 25 | 432 | 0.0579 | -25 | c.*29 others(36): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 2882 | chr3 | TogoVar |