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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5379): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 266 | 0.0038 | 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 | 266 | 0.0038 | 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 | 266 | 0.0038 | 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 | 266 | 0.0038 | 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 | a0001c0001t0001g0178 | 1 | 370 | 0.0027 | 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 | 282 | 0.0036 | 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 | 282 | 0.0036 | 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 | a0001c0002t0042g0265 | 1 | 290 | 0.0035 | 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 | a0001c0001t0003g0143 | 1 | 308 | 0.0033 | 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 | a0002c0002t0002 | a0002c0002t0002g0016 | 1 | 50 | 0.0200 | 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 | 160 | 0.0063 | 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 | 318 | 0.0031 | 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 | a0002c0002t0001g0058 | 1 | 286 | 0.0035 | 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 | a0001c0001t0008 | a0001c0001t0008g0109 | 1 | 160 | 0.0063 | 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 | a0001c0001t0001g0135 | 1 | 160 | 0.0063 | 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 | a0001c0001t0001g0110 | 1 | 160 | 0.0063 | 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 | a0001c0001t0001g0039 | 1 | 160 | 0.0063 | 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 | a0001c0001t0001g0156 | 1 | 160 | 0.0063 | 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 | 318 | 0.0031 | 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 | 318 | 0.0031 | 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 | a0001c0001t0011 | a0001c0001t0011g0123 | 1 | 160 | 0.0063 | 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 | a0001c0001t0016 | a0001c0001t0016g0134 | 1 | 160 | 0.0063 | 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 | 170 | 0.0059 | 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 | a0001c0003t0005g0031 | 1 | 104 | 0.0096 | 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 | a0001c0031t0002g0021 | 1 | 104 | 0.0096 | 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 | 104 | 0.0096 | 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 | 104 | 0.0096 | 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 | 104 | 0.0096 | 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 | 104 | 0.0096 | 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 | 104 | 0.0289 | 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 | a0001c0005t0026g0079 | 1 | 104 | 0.0096 | 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 | a0001c0001t0001g0029 a0001c0003t0037g0003 |
2 | 104 | 0.0192 | 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 | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0028 | 1 | 104 | 0.0096 | 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 | HG01496.hp2 | a0003 | a0003c0027 | a0003c0027t0011 | a0003c0027t0011g0013 | 1 | 104 | 0.0096 | 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 | HG03139.hp1 | a0004 | a0004c0039 | a0004c0039t0009 | a0004c0039t0009g0040 | 1 | 104 | 0.0096 | 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 | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0080 | 1 | 104 | 0.0096 | 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 | NA18989.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0054 | 1 | 104 | 0.0096 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432084 | T | TAGGGTGG others(5393): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0062 | 1 | 376 | 0.0027 | 5400 | c.101 others(5417): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775380 | A | ATTTTTTT others(5394): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 160 | 0.0063 | 5401 | c.*16 others(5422): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775381 | T | TTTTTTTT others(5394): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | 160 | 0.0125 | 5401 | c.*16 others(5422): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56780782 | A | ATTTTTTT others(5395): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0013g0001 |
3 | 160 | 0.0188 | 5402 | c.*16 others(5423): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186109 | C | CGTAGGGG others(5396): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0024 | a0024c0021 | a0024c0021t0004 | a0024c0021t0004g0147 | 1 | 338 | 0.0030 | 5403 | c.300 others(5420): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771460 | T | TCCTCCTC others(5396): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 160 | 0.0063 | 5403 | c.*16 others(5424): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56780782 | A | ATTTTTTT others(5396): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 160 | 0.0063 | 5403 | c.*16 others(5424): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169859 | T | TCCCCCTC others(5396): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 115 | 0.0087 | 5403 | c.*17 others(5412): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 84 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56780782 | A | ATTTTTTT others(5397): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 160 | 0.0063 | 5404 | c.*16 others(5425): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5397): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0244 | 1 | 282 | 0.0036 | 5404 | c.299 others(5419): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5399): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0082 | a0082c0047 | a0082c0047t0001 | a0082c0047t0001g0095 | 1 | 282 | 0.0036 | 5406 | c.299 others(5421): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947949 | G | ATGGTGGT others(5402): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 136 | 0.0074 | 5409 | c.47- others(5426): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | chr10 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771371 | C | CTCCTCCT others(5403): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 160 | 0.0063 | 5410 | c.*16 others(5431): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar |