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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBMS1_chr2_160267151_160498807 | 160311210 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18995.hp2 NA19085.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0003g0034 others(2): Show |
5 | 328 | 0.0152 | 18 | c.402 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311224 | C | CCATATAT others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0090 a0001c0001t0014g0075 |
2 | 328 | 0.0061 | 18 | c.402 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311228 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 328 | 0.0031 | 18 | c.402 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311232 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 328 | 0.0031 | 18 | c.402 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160324882 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0092 | 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 | 160324882 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 a0001c0001t0004g0270 |
2 | 328 | 0.0061 | 18 | c.252 others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160426291 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 328 | 0.0031 | 18 | c.76- others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160465888 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 328 | 0.0031 | 18 | c.75+ others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471691 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02055.hp2 HG02080.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 others(11): Show |
14 | 328 | 0.0427 | 18 | c.75+ others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471716 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 328 | 0.0031 | 18 | c.75+ others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471717 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0038 a0001c0001t0005g0295 |
2 | 328 | 0.0061 | 18 | c.75+ others(35): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS2_chr12_56516820_56601193 | 56597637 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0033a0001c0002t0034 | a0001c0002t0033g0210 a0001c0002t0034g0100 |
2 | 280 | 0.0071 | 18 | c.*85 others(29): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1445 | chr12 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29280363 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG01993.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0006g0063 a0001c0001t0008g0083 a0001c0001t0016g0076 others(1): Show |
4 | 116 | 0.0345 | 18 | c.-13 others(29): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 707 | chr3 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29384429 | T | TAAGAAGA others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0034 | 1 | 116 | 0.0086 | 18 | c.76- others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29384435 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0058 | a0001c0001t0012g0004 a0001c0001t0058g0023 |
2 | 116 | 0.0172 | 18 | c.76- others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29438028 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0065 | a0001c0001t0001g0047 a0001c0001t0065g0052 |
2 | 116 | 0.0172 | 18 | c.248 others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29465418 | T | TTAATATG others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0026others(11): Show | a0001c0001t0002g0050 a0001c0001t0005g0003 a0001c0001t0026g0113 others(11): Show |
14 | 116 | 0.1207 | 18 | c.249 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29514650 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0074 | a0001c0001t0011g0037 a0001c0001t0074g0031 |
2 | 116 | 0.0172 | 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 | 29514658 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0108 | 1 | 116 | 0.0086 | 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 | 29535710 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0032 | 1 | 116 | 0.0086 | 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 | 29544699 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 116 | 0.0086 | 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 | 29578790 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0068 | a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0068g0109 |
3 | 116 | 0.0259 | 18 | c.308 others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29679768 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0033a0001c0001t0036others(2): Show | a0001c0001t0021g0108 a0001c0001t0033g0043 a0001c0001t0036g0048 others(2): Show |
5 | 116 | 0.0431 | 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 | 29691947 | C | CTCTCTAT others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 116 | 0.0086 | 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 | 29691947 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029 | 1 | 116 | 0.0086 | 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 | 29779706 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063 | a0001c0001t0002g0049 a0001c0001t0063g0069 |
2 | 116 | 0.0172 | 18 | c.637 others(37): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29884422 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0065 | 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 | ||||||
RBMS3_chr3_29276071_30015386 | 29928180 | T | TTATGTAT others(11): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0010 | 1 | 116 | 0.0086 | 18 | c.940 others(35): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 NA18992.hp1 |
a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0000 | 2 | 314 | 0.0064 | 18 | c.*52 others(29): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 NA19080.hp1 NA19080.hp2 |
a0003a0014a0040 | a0003c0003a0014c0027a0040c0072 | a0003c0003t0001a0014c0027t0001a0040c0072t0001 | a0003c0003t0001g0000 a0014c0027t0001g0000 a0040c0072t0001g0000 |
3 | 314 | 0.0096 | 18 | c.*52 others(29): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01993.hp2 HG02109.hp2 others(6): Show |
a0001a0032 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0008t0001g0000 others(1): Show |
9 | 314 | 0.0287 | 18 | c.*52 others(29): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(27): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0006a0001c0053others(10): Show | a0001c0001t0001a0001c0006t0001a0001c0053t0001others(10): Show | a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0053t0001g0000 others(10): Show |
30 | 314 | 0.0955 | 18 | c.*52 others(29): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02145.hp1 NA19003.hp2 |
a0001a0028a0049 | a0001c0001a0028c0041a0049c0037 | a0001c0001t0001a0028c0041t0001a0049c0037t0001 | a0001c0001t0001g0000 a0028c0041t0001g0000 a0049c0037t0001g0000 |
3 | 314 | 0.0096 | 18 | c.*52 others(29): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139459400 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02056.hp2 HG02074.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0084 others(2): Show |
5 | 266 | 0.0188 | 18 | c.252 others(35): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139459400 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01069.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(14): Show |
20 | 266 | 0.0752 | 18 | c.252 others(35): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139459400 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0147 |
2 | 266 | 0.0075 | 18 | c.252 others(35): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139462558 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01496.hp2 HG01516.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0133 a0001c0001t0001g0135 others(9): Show |
12 | 266 | 0.0451 | 18 | c.74- others(31): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02132.hp1 HG02622.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show |
15 | 446 | 0.0336 | 18 | c.-11 others(29): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | |||||||
RBPJ_chr4_26316014_26439923 | 26316657 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0127 others(69): Show |
73 | 316 | 0.2310 | 18 | c.-43 others(29): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 4356 | chr4 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30419450 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0136 a0001c0001t0001g0226 a0001c0001t0003g0139 others(2): Show |
5 | 304 | 0.0165 | 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 | 30445649 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0188 a0001c0001t0001g0234 a0001c0001t0001g0235 others(16): Show |
19 | 304 | 0.0625 | 18 | c.67- others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30511484 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 304 | 0.0033 | 18 | c.397 others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30511486 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 304 | 0.0033 | 18 | c.397 others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30516903 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01243.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0050 others(22): Show |
25 | 304 | 0.0822 | 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 | 30518687 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03490.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0209 a0001c0001t0004g0022 |
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 | 30549793 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0260 |
2 | 304 | 0.0066 | 18 | c.528 others(35): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBX1_chr22_40946378_40978309 | 40951955 | T | TGGGGTCC others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0229 |
3 | 320 | 0.0094 | 18 | c.78+ others(31): Show |
RBX1 | ENSG00000100387.9 | transcript | ENST00000216225.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173929806 | T | TTATTTAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0003 | a0002c0003t0098 | a0002c0003t0098g0103 | 1 | 310 | 0.0032 | 18 | c.*89 others(29): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1277 | chr1 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18962.hp2 NA18990.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0102others(2): Show | a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0019 others(4): Show |
7 | 310 | 0.0226 | 18 | c.*88 others(29): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173942428 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0064others(1): Show | a0001c0001t0008g0300 a0001c0001t0016g0081 a0001c0001t0016g0082 others(2): Show |
5 | 310 | 0.0161 | 18 | c.313 others(36): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 18/19 | chr1 | TogoVar |