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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RSRC1_chr3_158105089_158550730 | 158118462 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 276 | 0.0036 | 20 | c.-2- others(35): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158118462 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0216 a0001c0001t0005g0087 |
2 | 276 | 0.0073 | 20 | c.-2- others(35): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158118462 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 276 | 0.0036 | 20 | c.-2- others(35): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158118462 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0030 a0001c0001t0004g0269 |
2 | 276 | 0.0073 | 20 | c.-2- others(35): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158180419 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 a0001c0001t0002g0273 |
2 | 276 | 0.0073 | 20 | c.321 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0213 a0001c0001t0009g0009 a0001c0001t0009g0010 others(1): Show |
4 | 276 | 0.0145 | 20 | c.321 others(35): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158207637 | T | TTAGATAG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0244 a0001c0001t0002g0233 a0001c0001t0002g0234 others(10): Show |
13 | 276 | 0.0471 | 20 | c.494 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158207662 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 others(6): Show |
9 | 276 | 0.0326 | 20 | c.494 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158207662 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0056 others(60): Show |
63 | 276 | 0.2283 | 20 | c.494 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158321974 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 276 | 0.0036 | 20 | c.531 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 276 | 0.0036 | 20 | c.652 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 276 | 0.0036 | 20 | c.652 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158487949 | G | GGAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 276 | 0.0036 | 20 | c.652 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158518148 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0028 a0001c0001t0009g0011 a0001c0001t0009g0012 |
3 | 276 | 0.0109 | 20 | c.653 others(39): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158529214 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 276 | 0.0036 | 20 | c.653 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0151 a0001c0001t0005g0148 |
2 | 276 | 0.0073 | 20 | c.*52 others(31): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG03471.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0029 | a0001c0001t0005g0149 a0001c0001t0007g0276 a0001c0001t0029g0152 |
3 | 276 | 0.0109 | 20 | c.*52 others(31): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0169 a0001c0001t0009g0009 a0001c0001t0009g0011 |
3 | 276 | 0.0109 | 20 | c.*52 others(31): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0113 | 1 | 276 | 0.0036 | 20 | c.*52 others(31): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16682535 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0070 | 1 | 190 | 0.0053 | 20 | c.731 others(39): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16683160 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0039others(6): Show | a0001c0001t0001g0138 a0001c0001t0002g0052 a0001c0001t0039g0036 others(7): Show |
10 | 190 | 0.0526 | 20 | c.731 others(39): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16785417 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0037a0001c0001t0044 | a0001c0001t0028g0008 a0001c0001t0037g0039 a0001c0001t0044g0077 |
3 | 190 | 0.0158 | 20 | c.110 others(37): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
RTKN2_chr10_62188086_62273844 | 62195606 | T | TGAAGGAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0005 | a0002c0005t0090 | a0002c0005t0090g0178 | 1 | 262 | 0.0038 | 20 | c.*22 others(31): Show |
RTKN2 | ENSG00000182010.11 | transcript | ENST00000373789.8 | protein_coding | 12/12 | 2301 | chr10 | TogoVar | ||||||
RTL10_chr22_19841146_19859874 | 19847803 | G | GAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 | a0004 | a0004c0005 | a0004c0005t0045 | a0004c0005t0045g0049 | 1 | 418 | 0.0024 | 20 | c.*33 others(31): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3363 | chr22 | TogoVar | ||||||
RTL10_chr22_19841146_19859874 | 19847804 | C | CAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0065 | 1 | 418 | 0.0024 | 20 | c.*33 others(31): Show |
RTL10 | ENSG00000215012.9 | transcript | ENST00000328554.9 | protein_coding | 3/3 | 3362 | chr22 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112161840 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 134 | 0.0075 | 20 | c.-44 others(41): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112169026 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03209.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0132 a0002c0001t0001g0026 |
2 | 134 | 0.0149 | 20 | c.-44 others(41): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112236476 | G | GATATAGA others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0128 | 1 | 134 | 0.0075 | 20 | c.-44 others(41): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL5_chrX_72122110_72136915 | 72127630 | G | GCCTCGAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001a0006 | a0001c0003a0001c0004a0006c0011 | a0001c0003t0002a0001c0003t0006a0001c0003t0015others(5): Show | a0001c0003t0002g0000 a0001c0003t0006g0000 a0001c0003t0015g0000 others(5): Show |
73 | 308 | 0.2370 | 20 | c.*21 others(31): Show |
RTL5 | ENSG00000242732.6 | transcript | ENST00000609883.3 | protein_coding | 1/1 | 2200 | chrX | TogoVar | ||||||
RTL6_chr22_44487583_44503233 | 44488965 | G | GAGGAAGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02074.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(2): Show |
10 | 402 | 0.0249 | 20 | c.*78 others(31): Show |
RTL6 | ENSG00000188636.4 | transcript | ENST00000341255.4 | protein_coding | 3617 | chr22 | TogoVar | |||||||
RTL9_chrX_110353848_110461334 | 110435020 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0002g0156 |
4 | 165 | 0.0242 | 20 | c.-16 others(41): Show |
RTL9 | ENSG00000243978.9 | transcript | ENST00000520821.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59728249 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0128 | 1 | 172 | 0.0058 | 20 | c.101 others(37): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750515 | A | ATATATCT others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 172 | 0.0058 | 20 | c.242 others(37): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45497741 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 432 | 0.0023 | 20 | c.-91 others(29): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 695 | chr19 | TogoVar | |||||||
RTN3_chr11_63676500_63764882 | 63734734 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0017 | 1 | 170 | 0.0059 | 20 | c.253 others(41): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTN3_chr11_63676500_63764882 | 63735550 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0077 a0002c0002t0002g0140 others(2): Show |
5 | 170 | 0.0294 | 20 | c.253 others(41): Show |
RTN3 | ENSG00000133318.14 | transcript | ENST00000377819.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1982613 | C | CAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0001 | 2 | 384 | 0.0052 | 20 | c.13+ others(37): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 2007337 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0009 | a0001c0009t0134 | a0001c0009t0134g0301 | 1 | 384 | 0.0026 | 20 | c.13+ others(37): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL2_chr11_57455528_57482534 | 57481540 | A | ATCCCTCC others(13): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 a0001c0002t0001g0146 |
2 | 348 | 0.0058 | 20 | c.*46 others(31): Show |
RTN4RL2 | ENSG00000186907.8 | transcript | ENST00000335099.8 | protein_coding | 4007 | chr11 | TogoVar | |||||||
RTN4_chr2_54967189_55055451 | 55022896 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0003a0002c0002t0011others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0243 a0001c0001t0001g0249 others(13): Show |
16 | 350 | 0.0457 | 20 | c.301 others(39): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46493907 | C | CCGTCTCC others(13): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 426 | 0.0024 | 20 | c.-41 others(31): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 4068 | chr3 | TogoVar | |||||||
RTP3_chr3_46492976_46505950 | 46495681 | A | AAAATAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02056.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0011 |
16 | 426 | 0.0376 | 20 | c.-23 others(31): Show |
RTP3 | ENSG00000163825.5 | transcript | ENST00000296142.4 | protein_coding | 2294 | chr3 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46362923 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03239.hp2 NA18522.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0009a0001c0001t0082a0001c0001t0088others(2): Show | a0001c0001t0009g0298 a0001c0001t0082g0286 a0001c0001t0088g0188 others(2): Show |
5 | 356 | 0.0140 | 20 | c.925 others(35): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46362929 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 356 | 0.0028 | 20 | c.925 others(35): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46388303 | G | GAGGGAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0008 | a0008c0008 | a0008c0008t0030 | a0008c0008t0030g0312 | 1 | 356 | 0.0028 | 20 | c.-14 others(31): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 1052 | chr13 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTCTTTT others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 376 | 0.0027 | 20 | c.891 others(37): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01255.hp2 others(28): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 others(28): Show |
31 | 376 | 0.0825 | 20 | c.891 others(37): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580241 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0251 | 1 | 376 | 0.0027 | 20 | c.891 others(35): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580241 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG01928.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0053 a0001c0003t0002g0224 a0001c0003t0002g0227 others(4): Show |
7 | 376 | 0.0186 | 20 | c.891 others(35): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580241 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0255 | 1 | 376 | 0.0027 | 20 | c.891 others(35): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |