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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBM47_chr4_40418280_40634864 | 40481445 | GTATTATT others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0018 | a0002c0002t0004g0195 a0002c0002t0018g0205 |
2 | 278 | 0.0072 | -18 | c.-15 others(39): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40592936 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0024a0001c0004t0005a0001c0004t0083others(4): Show | a0001c0003t0024g0040 a0001c0004t0005g0041 a0001c0004t0083g0042 others(4): Show |
7 | 278 | 0.0252 | -18 | c.-24 others(39): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40592963 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0147 | 1 | 278 | 0.0036 | -18 | c.-24 others(39): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40592965 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0055 | a0001c0001t0023g0180 a0001c0001t0055g0163 |
2 | 278 | 0.0072 | -18 | c.-24 others(39): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40592971 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0121 | a0002c0002t0121g0239 | 1 | 278 | 0.0036 | -18 | c.-24 others(39): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RBM5_chr3_50083919_50124021 | 50087669 | TTTATTAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0234 |
2 | 284 | 0.0070 | -18 | c.-14 others(29): Show |
RBM5 | ENSG00000003756.17 | transcript | ENST00000347869.8 | protein_coding | 1249 | chr3 | TogoVar | |||||||
RBM6_chr3_49935150_50082249 | 50052986 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 218 | 0.0046 | -18 | c.163 others(37): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBM7_chr11_114395666_114415607 | 114402382 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0003g0044 |
4 | 410 | 0.0098 | -18 | c.260 others(33): Show |
RBM7 | ENSG00000076053.12 | transcript | ENST00000375490.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160324880 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 328 | 0.0031 | -18 | c.252 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160324897 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0108 | 1 | 328 | 0.0031 | -18 | c.252 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29497973 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 NA18944.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0031 | a0001c0001t0006g0053 a0001c0002t0031g0039 |
2 | 116 | 0.0172 | -18 | c.307 others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29526520 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01517.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0019others(8): Show | a0001c0001t0003g0089 a0001c0001t0017g0077 a0001c0001t0019g0056 others(8): Show |
11 | 116 | 0.0948 | -18 | c.307 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29532244 | ATGTATAT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG03710.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0060a0001c0001t0065 | a0001c0001t0001g0047 a0001c0001t0060g0014 a0001c0001t0065g0052 |
3 | 116 | 0.0259 | -18 | c.307 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29559510 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02559.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0077 | a0001c0001t0012g0004 a0001c0001t0012g0036 a0001c0001t0020g0110 others(1): Show |
4 | 116 | 0.0345 | -18 | c.308 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29688564 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0022others(13): Show | a0001c0001t0006g0053 a0001c0001t0006g0063 a0001c0001t0008g0079 others(14): Show |
17 | 116 | 0.1466 | -18 | c.400 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29689100 | AATAGATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(57): Show | a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0003g0027 others(71): Show |
74 | 116 | 0.6379 | -18 | c.400 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29689917 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0008a0001c0001t0040others(5): Show | a0001c0001t0005g0003 a0001c0001t0008g0083 a0001c0001t0040g0102 others(5): Show |
8 | 116 | 0.0690 | -18 | c.400 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29816301 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055 a0001c0001t0019g0056 |
2 | 116 | 0.0172 | -18 | c.638 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29820188 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0021a0001c0001t0071 | a0001c0001t0017g0082 a0001c0001t0021g0108 a0001c0001t0071g0080 |
3 | 116 | 0.0259 | -18 | c.638 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29854637 | CAAAATGG others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01106.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0002g0058 a0001c0001t0006g0053 a0001c0001t0006g0063 others(15): Show |
18 | 116 | 0.1552 | -18 | c.638 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29884422 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0059 | a0001c0004t0059g0028 | 1 | 116 | 0.0086 | -18 | c.791 others(33): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30410143 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(6): Show |
9 | 304 | 0.0296 | -18 | c.66+ others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30499870 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(76): Show |
79 | 304 | 0.2599 | -18 | c.247 others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30517189 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0135 a0001c0001t0023g0143 |
2 | 304 | 0.0066 | -18 | c.397 others(37): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30519454 | CTCTCTTT others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 304 | 0.0033 | -18 | c.397 others(37): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBSN_chr3_15065073_15104148 | 15078775 | AATACATA others(11): Show |
A | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 360 | 0.0028 | -18 | c.912 others(33): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
RBSN_chr3_15065073_15104148 | 15078779 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 360 | 0.0028 | -18 | c.912 others(33): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173936730 | CATATATA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0304 | 1 | 310 | 0.0032 | -18 | c.*19 others(29): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 20/20 | 1973 | chr1 | TogoVar | ||||||
RC3H2_chr9_122839556_122910359 | 122868839 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | NA18992.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0153 a0001c0001t0013g0155 |
2 | 320 | 0.0063 | -18 | c.132 others(37): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122870395 | AACAAACA others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 320 | 0.0031 | -18 | c.132 others(37): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46354205 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0054 a0001c0001t0005g0068 a0001c0001t0009g0094 others(1): Show |
4 | 158 | 0.0253 | -18 | c.225 others(39): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46418695 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0050 a0001c0001t0004g0091 a0001c0001t0004g0092 others(5): Show |
8 | 158 | 0.0506 | -18 | c.225 others(37): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48525373 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02145.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0283 others(3): Show |
6 | 320 | 0.0188 | -18 | c.-21 others(35): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75078433 | TTTTGACG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 270 | 0.0037 | -18 | c.-47 others(29): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 4632 | chr7 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28507971 | AGCTGGAG others(11): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 294 | 0.0068 | -18 | c.-26 others(35): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02155.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0090 a0001c0001t0001g0128 others(1): Show |
5 | 294 | 0.0170 | -18 | c.442 others(35): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCC2_chr1_17401760_17444677 | 17426102 | GACCCAGG others(11): Show |
G | intron_variant | MODIFIER | NA19086.hp1 | a0011 | a0011c0018 | a0011c0018t0003 | a0011c0018t0003g0033 | 1 | 390 | 0.0026 | -18 | c.380 others(33): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
RCCD1_chr15_90949884_90968125 | 90964822 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0010 | a0004c0010t0023 | a0004c0010t0023g0093 | 1 | 432 | 0.0023 | -18 | c.*30 others(29): Show |
RCCD1 | ENSG00000166965.13 | transcript | ENST00000394258.7 | protein_coding | 1698 | chr15 | TogoVar | |||||||
RCL1_chr9_4787944_4866066 | 4806587 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA18939.hp2 NA18942.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0019 | a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0009g0003 others(5): Show |
9 | 386 | 0.0233 | -18 | c.136 others(37): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCN2_chr15_76926749_76959393 | 76953555 | CTATATAT others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0178a0001c0001t0183 | a0001c0001t0178g0034 a0001c0001t0183g0004 |
2 | 422 | 0.0047 | -18 | c.*43 others(29): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4355 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RCN2_chr15_76926749_76959393 | 76953577 | ATATATAT others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0010 a0001c0001t0048g0061 |
2 | 422 | 0.0047 | -18 | c.*43 others(29): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4357 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RCN3_chr19_49523003_49548633 | 49546062 | CTATTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02258.hp1 others(3): Show |
a0003 | a0003c0006a0003c0007 | a0003c0006t0002a0003c0007t0002 | a0003c0006t0002g0082 a0003c0006t0002g0083 a0003c0006t0002g0084 others(2): Show |
6 | 380 | 0.0158 | -18 | c.*28 others(29): Show |
RCN3 | ENSG00000142552.8 | transcript | ENST00000270645.8 | protein_coding | 2430 | chr19 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102653965 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG03669.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0041others(1): Show | a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0229 others(5): Show |
8 | 292 | 0.0274 | -18 | c.362 others(37): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102730664 | TTTCCAAA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 292 | 0.0034 | -18 | c.*41 others(29): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 104 | chr14 | TogoVar | |||||||
RCVRN_chr17_9891320_9910271 | 9899429 | ACGAACAG others(11): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 480 | 0.0021 | -18 | c.494 others(35): Show |
RCVRN | ENSG00000109047.8 | transcript | ENST00000226193.6 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
RCVRN_chr17_9891320_9910271 | 9900470 | TCTTCCTT others(11): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02129.hp1 HG02155.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0002g0170 others(2): Show |
13 | 480 | 0.0271 | -18 | c.493 others(33): Show |
RCVRN | ENSG00000109047.8 | transcript | ENST00000226193.6 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
RDH10_chr8_73289602_73330281 | 73325952 | GGTGTGTG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00741.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0099 a0001c0001t0001g0109 others(7): Show |
15 | 396 | 0.0379 | -18 | c.*29 others(29): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 672 | chr8 | TogoVar | |||||||
REC8_chr14_24167080_24185254 | 24180181 | TTCTGAAT others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0007a0001c0005t0003 | a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 others(2): Show |
6 | 436 | 0.0138 | -18 | c.*87 others(26): Show |
REC8 | ENSG00000100918.14 | transcript | ENST00000611366.5 | protein_coding | 19/19 | 87 | chr14 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36042423 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0227 a0002c0003t0001g0228 |
2 | 392 | 0.0051 | -18 | c.100 others(35): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36048126 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02895.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0004a0001c0001t0005a0006c0013t0004 | a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 others(4): Show |
7 | 392 | 0.0179 | -18 | c.101 others(35): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |