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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5363): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 94 | 0.0106 | 5370 | c.*39 others(5381): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5365): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 94 | 0.0106 | 5372 | c.*39 others(5383): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(5365): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 256 | 0.0039 | 5372 | c.129 others(5389): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5366): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 | 1 | 173 | 0.0058 | 5373 | c.127 others(5390): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5366): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 94 | 0.0106 | 5373 | c.*39 others(5384): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5367): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19064.hp2 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0281 a0001c0002t0002g0313 a0001c0002t0002g0314 |
3 | 243 | 0.0123 | 5374 | c.127 others(5391): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693666 | A | ACCTCCAC others(5367): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089 | 1 | 265 | 0.0038 | 5374 | c.*67 others(5385): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4980 | chr20 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(5369): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0020 | 1 | 9 | 0.1111 | 5376 | c.565 others(5393): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23972934 | G | GGTGGAGT others(5369): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 30 | 0.0333 | 5376 | c.*40 others(5387): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3656 | chr14 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5371): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 94 | 0.0106 | 5378 | c.*39 others(5389): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82833922 | C | CTAAGTGA others(5371): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18906.hp1 |
a0010 | a0010c0009 | a0010c0009t0013 | a0010c0009t0013g0033 a0010c0009t0013g0034 |
2 | 184 | 0.0109 | 5378 | c.142 others(5399): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 16/24 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977277 | C | CGGTCCTC others(5372): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0075 | a0032c0075t0008 | a0032c0075t0008g0015 | 1 | 83 | 0.0120 | 5379 | c.199 others(5398): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932526 | T | TAGACGAG others(5374): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0007 | 1 | 72 | 0.0139 | 5381 | c.23- others(5396): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
CEACAM7_chr19_41668303_41693270 | 41684843 | T | TGGAGGAA others(5375): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0130 | 1 | 219 | 0.0046 | 5382 | c.428 others(5397): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5375): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 55 | 0.0182 | 5382 | c.891 others(5397): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771496 | T | TCCTCCTC others(5377): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 136 | 0.0074 | 5384 | c.*16 others(5405): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693675 | A | ACCTCCAC others(5378): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 38 | 0.0263 | 5385 | c.299 others(5402): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5379): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 55 | 0.0182 | 5386 | c.891 others(5401): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5379): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 3 | 0.3333 | 5386 | c.-34 others(5401): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5379): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 3 | 0.3333 | 5386 | c.-34 others(5401): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5379): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 3 | 0.3333 | 5386 | c.-34 others(5401): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5379): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 3 | 0.3333 | 5386 | c.-34 others(5401): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5380): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 55 | 0.0182 | 5387 | c.891 others(5402): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5380): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0071 | 1 | 62 | 0.0161 | 5387 | c.286 others(5404): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5380): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 62 | 0.0161 | 5387 | c.286 others(5404): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364513 | A | ACACCCAC others(5381): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0228 | 1 | 263 | 0.0038 | 5388 | c.129 others(5405): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(5383): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 215 | 0.0047 | 5390 | c.157 others(5405): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5384): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0012 | 1 | 2 | 0.5000 | 5391 | c.287 others(5410): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56776862 | T | TCCTCCTC others(5386): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 150 | 0.0067 | 5393 | c.*16 others(5414): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5387): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0159 | 1 | 212 | 0.0047 | 5394 | c.225 others(5411): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544657 | A | AGTGGTGA others(5387): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 266 | 0.0038 | 5394 | c.154 others(5413): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776898 | T | TCCTCCTC others(5387): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 141 | 0.0071 | 5394 | c.*16 others(5415): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56767693 | A | AATTATGT others(5388): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 154 | 0.0065 | 5395 | c.*16 others(5416): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776898 | T | TCCTCCTC others(5388): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 141 | 0.0071 | 5395 | c.*16 others(5416): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56770915 | T | TGGGGGGG others(5389): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 103 | 0.0097 | 5396 | c.*16 others(5417): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771496 | T | TCCTCCTC others(5389): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 136 | 0.0074 | 5396 | c.*16 others(5417): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5390): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0256 | 1 | 212 | 0.0047 | 5397 | c.225 others(5414): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5390): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0260 | 1 | 212 | 0.0047 | 5397 | c.225 others(5414): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56769978 | A | ATTTTTTT others(5391): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 82 | 0.0122 | 5398 | c.*16 others(5419): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771460 | T | TCCTCCTC others(5391): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 157 | 0.0064 | 5398 | c.*16 others(5419): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5392): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 129 | 0.0078 | 5399 | c.86- others(5412): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0036 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0029 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0010 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0052 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0053 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0017a0001c0011t0030 | a0001c0001t0005g0015 a0001c0001t0017g0101 a0001c0011t0030g0039 |
3 | 4 | 0.7500 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0078 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0037 | a0001c0001t0001g0034 a0001c0003t0037g0003 |
2 | 3 | 0.6667 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |