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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(5404): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0011 | 1 | 40 | 0.0250 | 5411 | c.169 others(5428): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371346 | A | ATGTTCTA others(5404): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0169 | 1 | 282 | 0.0036 | 5411 | c.286 others(5428): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150497 | C | TACCACAC others(5405): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 294 | 0.0034 | 5412 | c.902 others(5427): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(5405): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 60 | 0.0167 | 5412 | c.299 others(5429): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 282 | 0.0036 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 282 | 0.0036 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | HG02602.hp1 HG04115.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093 a0002c0002t0002g0099 |
2 | 282 | 0.0071 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(43): Show |
a0002a0004 | a0002c0002a0002c0006a0002c0009others(1): Show | a0002c0002t0002a0002c0006t0002a0002c0009t0001others(1): Show | a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 others(42): Show |
46 | 282 | 0.1631 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0145 | 1 | 282 | 0.0036 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03490.hp1 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0133 a0002c0002t0002g0152 |
3 | 282 | 0.0106 | 5413 | c.286 others(5430): 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(5406): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0118 | 1 | 282 | 0.0036 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146109351 | G | GAGAGAGA others(5407): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0060 | a0060c0133 | a0060c0133t0002 | a0060c0133t0002g0130 | 1 | 283 | 0.0035 | 5414 | c.450 others(5431): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5408): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 170 | 0.0059 | 5415 | c.86- others(5428): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5409): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 370 | 0.0027 | 5416 | c.891 others(5431): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGGGGGG others(5410): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 308 | 0.0033 | 5417 | c.157 others(5434): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073173 | G | GAGCCCCC others(5410): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0027 | 1 | 118 | 0.0085 | 5417 | c.224 others(5434): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5411): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0172 | 1 | 318 | 0.0031 | 5418 | c.225 others(5435): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGATGG others(5411): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0078 | 1 | 376 | 0.0027 | 5418 | c.101 others(5435): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5412): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 370 | 0.0027 | 5419 | c.891 others(5434): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(5412): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0027 | a0027c0035 | a0027c0035t0001 | a0027c0035t0001g0039 | 1 | 292 | 0.0034 | 5419 | c.218 others(5434): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250966 | A | ATCCCCCA others(5413): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 116 | 0.0086 | 5420 | c.207 others(5439): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693687 | A | ACCACCAC others(5416): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 296 | 0.0034 | 5423 | c.*67 others(5434): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4959 | chr20 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5416): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0210 | 1 | 252 | 0.0040 | 5423 | c.520 others(5438): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646394 | A | ACCACCTC others(5417): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 180 | 0.0056 | 5424 | c.-35 others(5445): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5419): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 251 | 0.0040 | 5426 | c.-45 others(5435): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5419): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0211 | 1 | 252 | 0.0040 | 5426 | c.520 others(5441): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5420): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 252 | 0.0040 | 5427 | c.520 others(5442): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864117 | C | CCATTCCC others(5421): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 318 | 0.0031 | 5428 | c.225 others(5445): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0012 | a0002c0009t0012g0061 a0002c0009t0012g0062 |
2 | 104 | 0.0192 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0028 | a0006c0028t0006 | a0006c0028t0006g0072 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0023 | a0003c0023t0011 | a0003c0023t0011g0048 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0025 | a0001c0025t0007 | a0001c0025t0007g0012 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0035 | a0003c0035t0025 | a0003c0035t0025g0078 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0058 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0076 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0005 | a0005c0030 | a0005c0030t0001 | a0005c0030t0001g0077 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0068 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0057 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0059 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): 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(5423): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 104 | 0.0096 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5426): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 170 | 0.0059 | 5433 | c.86- others(5444): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(5427): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0147 | 1 | 298 | 0.0034 | 5434 | c.126 others(5451): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5429): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0037 | a0003c0037t0032 | a0003c0037t0032g0025 | 1 | 160 | 0.0063 | 5436 | c.102 others(5455): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113114005 | G | GGAGAAGG others(5429): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0025 | a0001c0025t0041a0001c0025t0042 | a0001c0025t0041g0063 a0001c0025t0042g0062 |
2 | 160 | 0.0125 | 5436 | c.102 others(5455): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar |