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 | 32461126 | T | TCCTCTCC others(3): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0031 | a0001c0031t0005 | a0001c0031t0005g0182 | 1 | 274 | 0.0037 | 10 | c.475 others(29): 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(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02004.hp2 HG02572.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0013t0003a0001c0014t0001others(1): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0013t0003g0152 others(2): Show |
5 | 274 | 0.0183 | 10 | c.475 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01928.hp2 NA18944.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0114 others(1): Show |
4 | 274 | 0.0146 | 10 | c.740 others(27): 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(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03704.hp1 homoSapiens_chm13v2.hp1 |
a0002a0005 | a0002c0002a0005c0020 | a0002c0002t0003a0005c0020t0003 | a0002c0002t0003g0164 a0002c0002t0003g0165 a0005c0020t0003g0012 |
3 | 274 | 0.0110 | 10 | c.949 others(27): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 49/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0063 | 1 | 274 | 0.0037 | 10 | c.998 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32521365 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0023 | 1 | 274 | 0.0037 | 10 | c.116 others(31): 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(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(15): Show | a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0186 others(36): Show |
39 | 274 | 0.1423 | 10 | c.122 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0002a0002c0004t0002 | a0001c0001t0001g0202 a0002c0002t0002g0088 a0002c0004t0002g0200 |
3 | 274 | 0.0110 | 10 | c.131 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32578979 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0014 | a0001c0014t0001a0001c0014t0003 | a0001c0014t0001g0156 a0001c0014t0001g0158 a0001c0014t0003g0157 |
3 | 274 | 0.0110 | 10 | c.133 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32609285 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(64): Show |
a0001a0002a0009others(3): Show | a0001c0010a0002c0002a0002c0004others(11): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0010t0002g0052 a0001c0010t0002g0063 a0001c0010t0002g0140 others(64): Show |
67 | 274 | 0.2445 | 10 | c.142 others(31): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 72/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLID_chr11_122110340_122121215 | 122112071 | C | CAAACAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(176): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
179 | 434 | 0.4124 | 10 | c.*35 others(21): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3268 | chr11 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11504367 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01515.hp1 HG01517.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0019others(1): Show | a0001c0001t0002a0001c0001t0015a0001c0003t0007others(3): Show | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0015g0073 others(6): Show |
9 | 308 | 0.0292 | 10 | c.-2+ others(25): 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(3): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 HG02647.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0002g0175 others(4): Show |
7 | 280 | 0.0250 | 10 | c.-4- others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90738564 | A | AAAAACAA others(3): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 280 | 0.0036 | 10 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90797414 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02257.hp2 HG03098.hp1 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0002 | a0003c0003t0003g0248 a0005c0007t0002g0220 a0005c0007t0002g0258 |
3 | 280 | 0.0107 | 10 | c.321 others(27): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0031a0001c0002t0011 | a0001c0001t0011g0176 a0001c0001t0031g0296 a0001c0002t0011g0190 |
3 | 322 | 0.0093 | 10 | c.125 others(29): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96229654 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01074.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 others(38): Show |
41 | 322 | 0.1273 | 10 | c.204 others(27): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
BLOC1S1_chr12_55711046_55724703 | 55714517 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00735.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(7): Show |
28 | 410 | 0.0683 | 10 | c.-15 others(21): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1528 | chr12 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281703 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02145.hp2 HG02486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0007others(1): Show | a0001c0001t0003g0159 a0002c0002t0003g0217 a0002c0002t0003g0218 others(5): Show |
8 | 378 | 0.0212 | 10 | c.173 others(25): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281705 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0257 | 1 | 378 | 0.0027 | 10 | c.173 others(25): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0166 others(15): Show |
25 | 378 | 0.0661 | 10 | c.173 others(25): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016 | a0001c0001t0012g0001 a0001c0001t0016g0001 |
2 | 426 | 0.0047 | 10 | c.-16 others(21): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCGCACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0007 | a0004c0007t0019 | a0004c0007t0019g0001 | 1 | 426 | 0.0024 | 10 | c.-16 others(21): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45177191 | G | GCGCGCAC others(3): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0020 | a0001c0001t0015g0002 a0001c0001t0020g0002 |
4 | 426 | 0.0094 | 10 | c.-16 others(21): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01943.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0033 | a0001c0001t0010g0001 a0001c0001t0014g0001 a0001c0001t0033g0001 |
7 | 426 | 0.0164 | 10 | c.*34 others(19): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BLOC1S5_chr6_8008567_8069389 | 8017385 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0087 a0001c0001t0003g0002 a0001c0001t0003g0004 others(53): Show |
66 | 364 | 0.1813 | 10 | c.385 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8022570 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 364 | 0.0028 | 10 | c.384 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8030865 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0187 a0001c0001t0006g0196 a0001c0001t0006g0197 others(4): Show |
7 | 364 | 0.0192 | 10 | c.326 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8036294 | A | ACAATGAA others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0203 a0001c0001t0005g0204 others(11): Show |
15 | 364 | 0.0412 | 10 | c.325 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02630.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0151 a0001c0001t0013g0291 |
2 | 364 | 0.0055 | 10 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCACAC others(3): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 a0001c0001t0005g0286 |
2 | 364 | 0.0055 | 10 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCAC others(3): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18999.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0336 |
3 | 364 | 0.0082 | 10 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 |
3 | 364 | 0.0082 | 10 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 364 | 0.0028 | 10 | c.196 others(27): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45584853 | T | TTGACCTC others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(4): Show |
12 | 362 | 0.0332 | 10 | c.-25 others(21): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 2525 | chr15 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122205785 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0005a0002c0004a0009c0018others(1): Show | a0001c0005t0001a0002c0004t0001a0009c0018t0001others(1): Show | a0001c0005t0001g0107 a0001c0005t0001g0108 a0002c0004t0001g0151 others(3): Show |
6 | 336 | 0.0179 | 10 | c.149 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(77): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0155 a0001c0001t0001g0207 a0001c0001t0001g0216 others(77): Show |
80 | 336 | 0.2381 | 10 | c.676 others(27): 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(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG03453.hp1 NA18940.hp2 others(2): Show |
a0001a0009a0012 | a0001c0003a0009c0021a0012c0041 | a0001c0003t0001a0009c0021t0010a0012c0041t0001 | a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0282 others(2): Show |
5 | 336 | 0.0149 | 10 | c.749 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290812 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 336 | 0.0030 | 10 | c.938 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290812 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 336 | 0.0030 | 10 | c.938 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122312613 | A | AGGTACTA others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00733.hp2 others(37): Show |
a0001a0019 | a0001c0002a0001c0009a0001c0028others(2): Show | a0001c0002t0001a0001c0002t0008a0001c0009t0001others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0035 others(36): Show |
40 | 336 | 0.1191 | 10 | c.102 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 59/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02647.hp1 |
a0001a0012 | a0001c0038a0012c0041 | a0001c0038t0001a0012c0041t0001 | a0001c0038t0001g0103 a0012c0041t0001g0233 |
2 | 336 | 0.0060 | 10 | c.109 others(31): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122327099 | G | GTGTTTTG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0188 others(77): Show |
80 | 336 | 0.2381 | 10 | c.112 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 67/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02818.hp2 |
a0009 | a0009c0010 | a0009c0010t0005a0009c0010t0017 | a0009c0010t0005g0041 a0009c0010t0017g0039 a0009c0010t0017g0040 |
3 | 312 | 0.0096 | 10 | c.44+ others(25): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0004a0021 | a0004c0015a0021c0026 | a0004c0015t0011a0021c0026t0005 | a0004c0015t0011g0162 a0021c0026t0005g0046 |
2 | 312 | 0.0064 | 10 | c.44+ others(25): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(23): Show |
a0002a0015 | a0002c0002a0015c0032 | a0002c0002t0002a0002c0002t0023a0002c0002t0036others(3): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 others(23): Show |
26 | 312 | 0.0833 | 10 | c.45- others(27): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34846077 | T | TCCCTCCC others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(56): Show |
a0002a0004a0009others(2): Show | a0002c0002a0004c0004a0009c0010others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0037others(7): Show | a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(56): Show |
59 | 312 | 0.1891 | 10 | c.103 others(29): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34847921 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02074.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0036others(9): Show | a0001c0001t0001g0187 a0002c0002t0002g0048 a0002c0002t0002g0079 others(13): Show |
16 | 312 | 0.0513 | 10 | c.103 others(29): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34852533 | C | CCCTCTCC others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02257.hp2 HG03098.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0040others(3): Show | a0001c0001t0001g0250 a0001c0001t0006g0176 a0002c0002t0040g0078 others(4): Show |
7 | 312 | 0.0224 | 10 | c.103 others(29): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100048771 | A | AGAGTGAG others(3): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 1 | 188 | 0.0053 | 10 | c.371 others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar |