regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNIP3L_chr8_26378054_26418127 | 26388807 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01515.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0054a0001c0001t0003g0142a0001c0001t0010g0040others(4): Show | 8 | 406 | 0.0197 | -12 | c.101 others(29): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01928.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0114a0001c0001t0001g0132a0001c0001t0001g0160others(24): Show | 29 | 424 | 0.0684 | -12 | c.116 others(29): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36329918 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0120a0001c0001t0001g0328a0001c0001t0001g0339others(2): Show | 5 | 424 | 0.0118 | -12 | c.610 others(27): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36338427 | GAGGGAGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0048 | 1 | 424 | 0.0024 | -12 | c.-17 others(23): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1540 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36338431 | GAGGAAGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01243.hp1 others(40): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(37): Show | 43 | 424 | 0.1014 | -12 | c.-17 others(23): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1544 | chr6 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36338460 | AGGAAGGA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0016 | a0016c0019 | a0016c0019t0010 | a0016c0019t0010g0129 | 1 | 424 | 0.0024 | -12 | c.-17 others(23): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1573 | chr6 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210224 | AACAAACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 386 | 0.0026 | -12 | c.-19 others(23): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1332 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210228 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03486.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0007others(2): Show | a0001c0001t0001a0002c0004t0005a0003c0007t0049others(2): Show | a0001c0001t0001g0012a0002c0004t0005g0061a0003c0007t0049g0109others(3): Show | 6 | 386 | 0.0155 | -12 | c.-19 others(23): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1328 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236228 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0243 | 1 | 386 | 0.0026 | -12 | c.-81 others(31): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236256 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 NA18522.hp2 |
a0005 | a0005c0019 | a0005c0019t0032 | a0005c0019t0032g0033a0005c0019t0032g0034 | 2 | 386 | 0.0052 | -12 | c.-81 others(31): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236258 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0104 | 1 | 386 | 0.0026 | -12 | c.-81 others(31): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236282 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02145.hp1 others(20): Show |
a0001a0003 | a0001c0002a0001c0006a0001c0014others(2): Show | a0001c0002t0017a0001c0006t0013a0001c0006t0050others(7): Show | a0001c0002t0017g0243a0001c0006t0013g0104a0001c0006t0013g0246others(18): Show | 23 | 386 | 0.0596 | -12 | c.-81 others(31): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOD1L1_chr4_13563738_13632725 | 13573462 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp2 others(24): Show |
a0003a0009a0013others(3): Show | a0003c0003a0003c0036a0009c0013others(4): Show | a0003c0003t0001a0003c0036t0001a0009c0013t0001others(4): Show | a0003c0003t0001g0001a0003c0003t0001g0017a0003c0003t0001g0031others(14): Show | 27 | 258 | 0.1047 | -12 | c.903 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13573466 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0064 | 1 | 258 | 0.0039 | -12 | c.903 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13584441 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02970.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0002 | a0001c0001t0001g0112a0005c0005t0002g0002a0005c0005t0002g0176others(2): Show | 11 | 258 | 0.0426 | -12 | c.843 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 17/25 | chr4 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13594913 | TAAAACAA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0008a0002c0032 | a0002c0008t0001a0002c0032t0001 | a0002c0008t0001g0004a0002c0032t0001g0212 | 4 | 258 | 0.0155 | -12 | c.810 others(29): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 12/25 | chr4 | TogoVar | ||||||
BOLA2B_chr16_30187932_30198666 | 30190400 | ATATATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 254 | 0.0158 | -12 | c.*25 others(23): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2531 | chr16 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197784391 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00738.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(32): Show | 39 | 328 | 0.1189 | -12 | c.-16 others(27): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144267084 | CCCCCCGC others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 398 | 0.0025 | -12 | c.391 others(29): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144283201 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 398 | 0.0025 | -12 | c.309 others(29): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724731 | TATATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02080.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0166a0001c0003t0001g0144 | 3 | 388 | 0.0077 | -12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3191 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72742765 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 388 | 0.0026 | -12 | c.389 others(27): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORA_chr13_72722923_72761196 | 72742767 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01258.hp2 HG02074.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0141a0001c0001t0001g0151others(7): Show | 17 | 388 | 0.0438 | -12 | c.389 others(27): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORA_chr13_72722923_72761196 | 72742801 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 388 | 0.0026 | -12 | c.389 others(27): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORCS6_chr17_8183345_8195180 | 8191291 | TTTTATTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0000 | 1 | 416 | 0.0024 | -12 | c.-11 others(23): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 1112 | chr17 | TogoVar | ||||||
BORCS7_chr10_102849259_102869961 | 102852740 | GGTGGTTA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 454 | 0.0022 | -12 | c.-15 others(23): Show |
BORCS7 | ENSG00000166275.16 | transcript | ENST00000339834.10 | protein_coding | 1518 | chr10 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177636 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 428 | 0.0023 | -12 | c.*43 others(27): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0061a0001c0001t0001g0129others(10): Show | 13 | 362 | 0.0359 | -12 | c.*34 others(23): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3158317 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(45): Show | 60 | 350 | 0.1714 | -12 | c.*57 others(23): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4740 | chr6 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231201 | GGAAGGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0016a0001c0001t0001g0150 | 3 | 382 | 0.0079 | -12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4794 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | GGAAAGAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0048a0001c0001t0001g0049others(1): Show | 4 | 382 | 0.0105 | -12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33237898 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0001g0110a0001c0001t0001g0111others(4): Show | 7 | 382 | 0.0183 | -12 | c.160 others(25): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA1_chr20_33230996_33248306 | 33240530 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0153a0001c0001t0001g0156others(1): Show | 5 | 382 | 0.0131 | -12 | c.581 others(27): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA1_chr20_33230996_33248306 | 33240645 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 382 | 0.0026 | -12 | c.581 others(27): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA3_chr20_33212352_33232806 | 33222554 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG03710.hp1 NA18940.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0079a0002c0002t0001g0080a0003c0003t0002g0031 | 4 | 416 | 0.0096 | -12 | c.128 others(29): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA3_chr20_33212352_33232806 | 33231201 | GGAAGGAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG03491.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0097 | 2 | 416 | 0.0048 | -12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3396 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231205 | GGAAAGAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02809.hp2 NA18969.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0007t0001g0123others(1): Show | 5 | 416 | 0.0120 | -12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3400 | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33048742 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02040.hp1 NA18948.hp2 NA18951.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0002 | 6 | 384 | 0.0156 | -12 | c.*46 others(23): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4696 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424642 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0373 | 1 | 422 | 0.0024 | -12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424753 | CTCTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG03017.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003 | a0002c0002t0002g0070a0003c0003t0003g0299 | 2 | 422 | 0.0047 | -12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32450093 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02015.hp1 HG02129.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0238others(13): Show | 16 | 422 | 0.0379 | -12 | c.246 others(29): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32457536 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 422 | 0.0024 | -12 | c.1-1 others(23): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 2/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32457559 | GTCCATCC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(144): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009a0001c0001t0001g0041a0001c0001t0001g0062others(144): Show | 147 | 422 | 0.3483 | -12 | c.1-1 others(23): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 2/16 | chr22 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38313383 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02155.hp1 HG02895.hp1 others(5): Show |
a0002a0009a0017 | a0002c0002a0009c0009a0017c0019 | a0002c0002t0001a0002c0002t0002a0009c0009t0001others(1): Show | a0002c0002t0001g0088a0002c0002t0001g0116a0002c0002t0002g0085others(5): Show | 8 | 426 | 0.0188 | -12 | c.600 others(29): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPI_chr20_38299156_38342505 | 38321141 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(70): Show |
a0001a0003a0005others(7): Show | a0001c0001a0003c0003a0005c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(14): Show | a0001c0001t0001g0176a0001c0001t0001g0222a0001c0001t0001g0298others(56): Show | 73 | 426 | 0.1714 | -12 | c.756 others(27): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPNT1_chr1_220052482_220094788 | 220082079 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 424 | 0.0024 | -12 | c.-8- others(27): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220090911 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0064a0001c0001t0004g0248 | 2 | 424 | 0.0047 | -12 | c.-12 others(23): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1124 | chr1 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220090939 | TATATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174a0001c0001t0002g0179 | 2 | 424 | 0.0047 | -12 | c.-12 others(23): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1152 | chr1 | TogoVar | ||||||
BPNT2_chr8_56952931_56998867 | 56996210 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 356 | 0.0028 | -12 | c.-26 others(23): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 2344 | chr8 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67881852 | GTTTTTGT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02486.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0029 | a0001c0003t0002a0001c0003t0003a0003c0029t0010 | a0001c0003t0002g0088a0001c0003t0003g0093a0001c0003t0003g0096others(1): Show | 4 | 274 | 0.0146 | -12 | c.186 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |