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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC3_chr11_102312484_102344403 | 102342308 | A | ATATGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01169.hp1 HG01978.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(8): Show |
14 | 259 | 0.0541 | 8 | c.*52 others(19): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2906 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 NA18968.hp1 NA18978.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0004g0001 a0001c0002t0001g0003 others(3): Show |
8 | 285 | 0.0281 | 8 | c.*52 others(19): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(19): Show |
29 | 96 | 0.3021 | 8 | c.*52 others(19): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32397574 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp1 others(6): Show |
a0001a0004a0007 | a0001c0006a0001c0011a0001c0013others(2): Show | a0001c0006t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0006t0001g0005 a0001c0011t0001g0217 a0001c0011t0001g0220 others(6): Show |
9 | 113 | 0.0796 | 8 | c.103 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0015 | a0001c0001t0001a0001c0007t0002a0001c0015t0001 | a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0218 others(3): Show |
6 | 37 | 0.1622 | 8 | c.324 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATTTTT others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG01934.hp2 others(2): Show |
a0001a0002 | a0001c0006a0001c0025a0002c0004 | a0001c0006t0001a0001c0025t0001a0002c0004t0001 | a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(2): Show |
5 | 78 | 0.0641 | 8 | c.475 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0008a0001c0010a0001c0012others(1): Show | a0001c0008t0001a0001c0010t0001a0001c0012t0001others(1): Show | a0001c0008t0001g0060 a0001c0010t0001g0053 a0001c0012t0001g0116 others(3): Show |
6 | 161 | 0.0373 | 8 | c.475 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32504034 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01884.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0198 a0001c0003t0001g0024 a0001c0003t0001g0097 others(4): Show |
7 | 121 | 0.0579 | 8 | c.949 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 49/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32521365 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01952.hp2 others(6): Show |
a0001a0007 | a0001c0003a0001c0011a0001c0013others(2): Show | a0001c0003t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0003t0001g0124 a0001c0003t0001g0140 a0001c0003t0001g0265 others(6): Show |
9 | 18 | 0.5000 | 8 | c.116 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 57/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32532134 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01167.hp1 others(28): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0190 a0001c0006t0001g0006 a0001c0006t0001g0007 others(28): Show |
31 | 51 | 0.6078 | 8 | c.122 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32609285 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03225.hp2 others(3): Show |
a0001a0002 | a0001c0010a0002c0002a0002c0004others(1): Show | a0001c0010t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0010t0001g0052 a0002c0002t0001g0062 a0002c0002t0001g0063 others(3): Show |
6 | 168 | 0.0357 | 8 | c.142 others(29): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11512654 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(77): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0124 others(76): Show |
80 | 169 | 0.4734 | 8 | c.-2+ others(25): 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(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01123.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0172 others(46): Show |
52 | 159 | 0.3270 | 8 | c.-1- others(23): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02630.hp2 HG02886.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(6): Show |
9 | 46 | 0.1957 | 8 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96201738 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0015a0001c0001t0027others(4): Show | a0001c0001t0008g0167 a0001c0001t0015g0061 a0001c0001t0015g0135 others(8): Show |
11 | 200 | 0.0550 | 8 | c.935 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96229654 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01069.hp2 others(43): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0071 others(40): Show |
46 | 55 | 0.8364 | 8 | c.204 others(25): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96265119 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(109): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0073 others(106): Show |
112 | 134 | 0.8358 | 8 | c.47+ others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLOC1S1_chr12_55711046_55724703 | 55718492 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0002g0020 |
4 | 71 | 0.0563 | 8 | c.219 others(23): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01261.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0005a0002c0002t0003others(1): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(8): Show |
17 | 200 | 0.0850 | 8 | c.173 others(23): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG02809.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0012g0001 a0001c0001t0016g0001 |
3 | 165 | 0.0182 | 8 | c.-16 others(19): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8017385 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02615.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0018g0145 |
3 | 62 | 0.0484 | 8 | c.385 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041312 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp1 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0035 a0001c0001t0002g0104 a0001c0001t0002g0241 others(3): Show |
6 | 37 | 0.1622 | 8 | c.196 others(21): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0125 a0001c0001t0005g0006 a0001c0001t0005g0272 others(2): Show |
6 | 33 | 0.1818 | 8 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0134 others(2): Show |
6 | 33 | 0.1818 | 8 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45601867 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02080.hp2 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0106 |
11 | 330 | 0.0333 | 8 | c.225 others(25): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122180039 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0107 others(4): Show |
8 | 331 | 0.0242 | 8 | c.358 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 6/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122200583 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01255.hp2 others(12): Show |
a0001a0009 | a0001c0002a0001c0005a0001c0008others(3): Show | a0001c0002t0001a0001c0005t0002a0001c0008t0001others(3): Show | a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0023 others(12): Show |
15 | 191 | 0.0785 | 8 | c.138 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122205785 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02109.hp2 NA18942.hp1 others(4): Show |
a0001a0002a0018others(1): Show | a0001c0005a0002c0004a0018c0044others(1): Show | a0001c0005t0001a0002c0004t0001a0018c0044t0001others(1): Show | a0001c0005t0001g0140 a0002c0004t0001g0127 a0002c0004t0001g0137 others(4): Show |
7 | 42 | 0.1667 | 8 | c.149 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 15/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122216079 | T | TTGTCTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 |
3 | 317 | 0.0095 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122216085 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02132.hp2 NA18981.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0027others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0027t0001others(1): Show | a0001c0002t0001g0024 a0001c0003t0001g0275 a0001c0027t0001g0073 others(1): Show |
4 | 138 | 0.0290 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122216085 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02622.hp2 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0001 | a0001c0001t0001g0306 a0001c0001t0004g0175 a0003c0006t0001g0040 |
3 | 137 | 0.0219 | 8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(7): Show | a0001c0001t0001g0121 a0001c0001t0001g0145 a0001c0001t0001g0159 others(36): Show |
39 | 60 | 0.6500 | 8 | c.676 others(25): 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(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001 | a0003c0006t0001g0009 a0003c0006t0001g0012 a0003c0006t0001g0013 others(3): Show |
6 | 77 | 0.0779 | 8 | c.749 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122313861 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp2 NA18906.hp1 |
a0009a0014 | a0009c0018a0014c0035 | a0009c0018t0001a0014c0035t0001 | a0009c0018t0001g0114 a0009c0018t0001g0115 a0014c0035t0001g0142 |
3 | 301 | 0.0100 | 8 | c.103 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 60/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0002a0004a0006others(3): Show | a0002c0002a0002c0032a0004c0004others(6): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(19): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(69): Show |
73 | 203 | 0.3596 | 8 | c.44+ others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34815241 | G | GTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01069.hp1 others(37): Show |
a0004a0008a0014 | a0004c0004a0004c0014a0004c0015others(3): Show | a0004c0004t0005a0004c0004t0010a0004c0004t0011others(11): Show | a0004c0004t0005g0009 a0004c0004t0005g0010 a0004c0004t0005g0011 others(36): Show |
40 | 253 | 0.1581 | 8 | c.45- others(23): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGAGTGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03579.hp1 |
a0001a0013 | a0001c0025a0013c0024 | a0001c0025t0001a0013c0024t0001 | a0001c0025t0001g0092 a0013c0024t0001g0187 |
2 | 68 | 0.0294 | 8 | c.371 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0102 |
2 | 68 | 0.0294 | 8 | c.371 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100098919 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 HG03486.hp1 others(3): Show |
a0001a0011a0012 | a0001c0001a0011c0021a0012c0028 | a0001c0001t0001a0011c0021t0001a0012c0028t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(3): Show |
6 | 127 | 0.0472 | 8 | c.339 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100104193 | G | GTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(15): Show |
a0001a0003 | a0001c0025a0003c0002 | a0001c0025t0001a0003c0002t0001 | a0001c0025t0001g0092 a0003c0002t0001g0042 a0003c0002t0001g0043 others(15): Show |
18 | 186 | 0.0968 | 8 | c.208 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01081.hp2 others(9): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0002a0005c0006others(2): Show | a0001c0001t0001a0003c0002t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0099 others(9): Show |
12 | 43 | 0.2791 | 8 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124974 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02717.hp1 others(2): Show |
a0001a0018 | a0001c0001a0018c0014 | a0001c0001t0001a0018c0014t0001 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(2): Show |
5 | 175 | 0.0286 | 8 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01074.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0006c0015t0001 | a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show |
9 | 74 | 0.1216 | 8 | c.44+ others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43789876 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 a0001c0002t0001g0302 |
3 | 177 | 0.0169 | 8 | c.135 others(25): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448607 | A | AATAACAA others(1): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03654.hp1 NA18969.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0163 a0001c0002t0001g0180 a0001c0002t0001g0183 |
3 | 355 | 0.0085 | 8 | c.464 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0332 others(1): Show |
4 | 52 | 0.0769 | 8 | c.464 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40450842 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0106 a0001c0001t0001g0138 others(12): Show |
15 | 208 | 0.0721 | 8 | c.463 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40457657 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02615.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0001g0115 others(12): Show |
18 | 296 | 0.0608 | 8 | c.334 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0002g0007 others(5): Show |
19 | 62 | 0.3065 | 8 | c.29- others(23): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01099.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(16): Show |
21 | 148 | 0.1419 | 8 | c.-26 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar |