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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0017 | a0003c0017t0003 | a0003c0017t0003g0136 | 1 | 274 | 0.0037 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0013 | a0013c0037 | a0013c0037t0003 | a0013c0037t0003g0138 | 1 | 274 | 0.0037 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461147 | C | CCTCCCCT others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG01952.hp2 others(12): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0017 | a0001c0003t0003a0001c0003t0009a0002c0002t0003others(1): Show | a0001c0003t0003g0023 a0001c0003t0003g0032 a0001c0003t0003g0033 others(12): Show |
15 | 274 | 0.0547 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461173 | T | TCCCCTCC others(5): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0218 |
3 | 274 | 0.0110 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461185 | T | TCCCCTCC others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01074.hp1 others(32): Show |
a0001a0002a0015 | a0001c0001a0001c0011a0001c0015others(4): Show | a0001c0001t0001a0001c0011t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0001t0001g0103 others(32): Show |
35 | 274 | 0.1277 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461343 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03516.hp1 |
a0001a0007 | a0001c0013a0007c0047 | a0001c0013t0003a0007c0047t0008 | a0001c0013t0003g0154 a0007c0047t0008g0151 |
2 | 274 | 0.0073 | 12 | c.475 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 274 | 0.0037 | 12 | c.740 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32504034 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01943.hp2 |
a0001a0005 | a0001c0006a0005c0020 | a0001c0006t0003a0005c0020t0003 | a0001c0006t0003g0006 a0001c0006t0003g0007 a0005c0020t0003g0001 |
3 | 274 | 0.0110 | 12 | c.949 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 49/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32532134 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(16): Show | a0001c0001t0001g0107 a0001c0001t0001g0197 a0001c0001t0001g0198 others(47): Show |
50 | 274 | 0.1825 | 12 | c.122 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0021a0001c0023 | a0001c0001t0001a0001c0021t0002a0001c0023t0001 | a0001c0001t0001g0204 a0001c0021t0002g0176 a0001c0023t0001g0011 |
3 | 274 | 0.0110 | 12 | c.131 others(33): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32609285 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02040.hp1 NA18944.hp1 |
a0002 | a0002c0002a0002c0039 | a0002c0002t0002a0002c0039t0002 | a0002c0002t0002g0039 a0002c0002t0002g0114 a0002c0039t0002g0091 |
3 | 274 | 0.0110 | 12 | c.142 others(33): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32611108 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0004 | 1 | 274 | 0.0037 | 12 | c.142 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLCAP_chr20_37512417_37532876 | 37513936 | T | TTGGAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 12 | c.*49 others(23): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 3480 | chr20 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11512654 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03098.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0006 | a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0004g0086 others(1): Show |
4 | 308 | 0.0130 | 12 | c.-2+ others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11533582 | C | CGGAGGAG others(5): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01358.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0005 | a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0003g0284 others(1): Show |
4 | 308 | 0.0130 | 12 | c.-1- others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11535261 | G | GAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 others(20): Show |
26 | 308 | 0.0844 | 12 | c.-1- others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11560274 | G | GATGGATG others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02976.hp2 others(6): Show |
a0001a0005 | a0001c0004a0001c0005a0005c0013 | a0001c0004t0009a0001c0005t0009a0001c0005t0010others(1): Show | a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 others(5): Show |
9 | 308 | 0.0292 | 12 | c.103 others(31): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30291954 | T | TCGGCGGC others(5): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0021 a0002c0002t0001g0054 |
2 | 298 | 0.0067 | 12 | c.-14 others(21): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 HG06807.hp1 NA18953.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0032 a0001c0001t0002g0033 a0001c0002t0001g0243 others(4): Show |
7 | 280 | 0.0250 | 12 | c.-4- others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90784351 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0002a0001c0011t0011 | a0001c0001t0001g0274 a0001c0011t0002g0044 a0001c0011t0011g0023 |
3 | 280 | 0.0107 | 12 | c.266 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90789987 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0269 | 1 | 280 | 0.0036 | 12 | c.282 others(29): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96229654 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02738.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0001t0001g0197 others(9): Show |
12 | 322 | 0.0373 | 12 | c.204 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96265119 | C | CTTATTTA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG02273.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0274 a0001c0001t0001g0285 others(7): Show |
10 | 322 | 0.0311 | 12 | c.47+ others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276292 | G | GTCTCCCT others(5): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 378 | 0.0027 | 12 | c.398 others(27): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100276442 | C | CCCTCTCC others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02572.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0233 a0002c0002t0003g0239 a0002c0002t0003g0245 others(2): Show |
5 | 378 | 0.0132 | 12 | c.398 others(27): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01070.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0016 | a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0178 others(5): Show |
11 | 378 | 0.0291 | 12 | c.173 others(27): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0001 | 1 | 426 | 0.0024 | 12 | c.*34 others(21): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BLOC1S3_chr19_45173784_45186800 | 45184903 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0024 | a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0024g0001 |
4 | 426 | 0.0094 | 12 | c.*49 others(23): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 3104 | chr19 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8017385 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 a0001c0001t0003g0233 |
2 | 364 | 0.0055 | 12 | c.385 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8030865 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(113): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(106): Show |
116 | 364 | 0.3187 | 12 | c.326 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(110): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(102): Show |
113 | 364 | 0.3104 | 12 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 others(54): Show |
67 | 364 | 0.1841 | 12 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCACAC others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 364 | 0.0028 | 12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 a0001c0001t0003g0219 |
2 | 364 | 0.0055 | 12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 364 | 0.0028 | 12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 364 | 0.0028 | 12 | c.196 others(29): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122205785 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0132 | 1 | 336 | 0.0030 | 12 | c.149 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 15/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00735.hp2 others(22): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0217 others(22): Show |
25 | 336 | 0.0744 | 12 | c.676 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02451.hp2 HG02615.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0010 | a0001c0001t0001a0003c0006t0001a0004c0010t0001 | a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 others(2): Show |
5 | 336 | 0.0149 | 12 | c.749 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122322605 | A | ATGTCTGG others(5): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0004 | 1 | 336 | 0.0030 | 12 | c.109 others(33): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | chr4 | TogoVar | |||||||
BLTP3A_chr6_34787083_34882514 | 34790599 | G | GATAGGCA others(5): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088 | 1 | 312 | 0.0032 | 12 | c.-16 others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1483 | chr6 | TogoVar | |||||||
BLTP3A_chr6_34787083_34882514 | 34792126 | T | TGGCGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG03195.hp2 HG03225.hp1 HG03516.hp1 others(1): Show |
a0003a0010 | a0003c0003a0010c0011 | a0003c0003t0038a0010c0011t0022a0010c0011t0039 | a0003c0003t0038g0140 a0010c0011t0022g0158 a0010c0011t0022g0160 others(1): Show |
4 | 312 | 0.0128 | 12 | c.-12 others(21): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/21 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18968.hp2 NA18975.hp1 others(2): Show |
a0002a0013 | a0002c0002a0013c0033 | a0002c0002t0002a0013c0033t0002 | a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0089 others(2): Show |
5 | 312 | 0.0160 | 12 | c.45- others(29): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34847921 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01099.hp1 others(23): Show |
a0003a0005a0008others(3): Show | a0003c0003a0005c0005a0008c0009others(3): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0021others(7): Show | a0003c0003t0003g0102 a0003c0003t0003g0104 a0003c0003t0003g0105 others(23): Show |
26 | 312 | 0.0833 | 12 | c.103 others(31): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100098919 | C | CAGATAGA others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01081.hp2 others(50): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0025others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0025t0001others(12): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(50): Show |
53 | 188 | 0.2819 | 12 | c.339 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100098925 | G | GATAGATA others(5): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 188 | 0.0053 | 12 | c.339 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18942.hp2 |
a0001a0012 | a0001c0001a0012c0028 | a0001c0001t0001a0012c0028t0001 | a0001c0001t0001g0088 a0012c0028t0001g0087 |
2 | 188 | 0.0106 | 12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01952.hp2 HG02004.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0077 others(6): Show |
9 | 188 | 0.0479 | 12 | c.45- others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130921 | A | AATACATA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03225.hp1 |
a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0001 a0010c0013t0001g0003 |
2 | 188 | 0.0106 | 12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0127 |
2 | 188 | 0.0106 | 12 | c.44+ others(29): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar |