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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMX_chrX_15495807_15561519 | 15527283 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 216 | 0.0046 | 14 | c.884 others(31): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BNC1_chr15_83250884_83289664 | 83285253 | G | GCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045a0001c0001t0003g0074 | 2 | 304 | 0.0066 | 14 | c.-62 others(23): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 590 | chr15 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16412720 | G | GGAGAGAG others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0151 | 1 | 176 | 0.0057 | 14 | c.*62 others(25): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 7/7 | 6268 | chr9 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16418873 | G | GCACACAC others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG02083.hp1 HG02257.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0013 | a0001c0001t0030a0001c0001t0101a0001c0001t0102others(5): Show | a0001c0001t0030g0105a0001c0001t0101g0040a0001c0001t0102g0001others(5): Show | 8 | 176 | 0.0455 | 14 | c.*10 others(23): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 7/7 | 115 | chr9 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16463294 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0007 | a0001c0007t0052 | a0001c0007t0052g0176 | 1 | 176 | 0.0057 | 14 | c.670 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16498032 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0035a0001c0001t0065others(4): Show | a0001c0001t0003g0103a0001c0001t0035g0067a0001c0001t0065g0104others(4): Show | 7 | 176 | 0.0398 | 14 | c.669 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539750 | G | GAAGGAAA others(7): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0063a0001c0001t0009g0062 | 2 | 176 | 0.0114 | 14 | c.669 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16582892 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0154 | 1 | 176 | 0.0057 | 14 | c.433 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16630749 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 HG03098.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0022 | a0001c0001t0001a0001c0001t0035a0001c0002t0067others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0056a0001c0001t0035g0067others(2): Show | 5 | 176 | 0.0284 | 14 | c.331 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16652460 | A | AATAAAGA others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(27): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(21): Show | a0001c0001t0001g0038a0001c0001t0001g0120a0001c0001t0003g0016others(27): Show | 30 | 176 | 0.1705 | 14 | c.331 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16663121 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0006 | a0006c0018 | a0006c0018t0058 | a0006c0018t0058g0058 | 1 | 176 | 0.0057 | 14 | c.330 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16663130 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0005g0102a0001c0001t0008g0174a0001c0001t0012g0094others(4): Show | 7 | 176 | 0.0398 | 14 | c.330 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0021a0001c0001t0001g0048a0001c0001t0001g0053others(49): Show | 52 | 176 | 0.2955 | 14 | c.330 others(33): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01361.hp1 others(14): Show |
a0001a0004a0006 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0029a0001c0001t0001g0038a0001c0001t0003g0063others(14): Show | 17 | 176 | 0.0966 | 14 | c.130 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16748922 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013a0001c0001t0023 | a0001c0001t0009g0036a0001c0001t0013g0140a0001c0001t0013g0144others(1): Show | 4 | 176 | 0.0227 | 14 | c.4-1 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16751698 | A | ATATATGT others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0070 | a0002c0003t0070g0163 | 1 | 176 | 0.0057 | 14 | c.4-1 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16751698 | A | ATGTATGT others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03540.hp1 NA20129.hp2 |
a0001a0004 | a0001c0001a0001c0011a0004c0004 | a0001c0001t0105a0001c0011t0082a0004c0004t0060 | a0001c0001t0105g0061a0001c0011t0082g0035a0004c0004t0060g0045 | 3 | 176 | 0.0171 | 14 | c.4-1 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16811230 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 1 | 176 | 0.0057 | 14 | c.3+5 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16815637 | T | TTGGAACC others(7): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0129a0001c0001t0031g0159 | 2 | 176 | 0.0114 | 14 | c.3+5 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16847409 | G | GGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0151 | 1 | 176 | 0.0057 | 14 | c.3+2 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16861181 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02886.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0006 | a0001c0001t0032g0076a0001c0002t0006g0070 | 2 | 176 | 0.0114 | 14 | c.3+9 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173168855 | T | TTCTTGGC others(7): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 352 | 0.0028 | 14 | c.*49 others(25): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 4469 | chr5 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGGGGGGG others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0190 | 1 | 386 | 0.0026 | 14 | c.-81 others(33): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18962.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032a0001c0002t0002g0165 | 2 | 386 | 0.0052 | 14 | c.-81 others(33): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOK_chr2_241553745_241579131 | 241558054 | G | GACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0006g0211a0001c0001t0007g0187a0001c0001t0007g0188others(4): Show | 7 | 434 | 0.0161 | 14 | c.-96 others(23): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 690 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197754750 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092a0001c0001t0004g0093 | 2 | 328 | 0.0061 | 14 | c.729 others(31): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144273390 | A | ACCCCAGA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0305a0001c0002t0001g0173a0001c0003t0001g0168others(2): Show | 5 | 398 | 0.0126 | 14 | c.390 others(31): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144283201 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01109.hp1 others(38): Show |
a0001a0002a0016 | a0001c0001a0001c0028a0002c0004others(1): Show | a0001c0001t0001a0001c0028t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0060others(37): Show | 41 | 398 | 0.1030 | 14 | c.309 others(31): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 NA19087.hp1 NA19088.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0002g0063a0001c0002t0001g0099 | 3 | 388 | 0.0077 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0080a0001c0001t0002g0084a0001c0001t0002g0094others(1): Show | 4 | 388 | 0.0103 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 388 | 0.0026 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATGT others(7): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(8): Show | 13 | 388 | 0.0335 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG02129.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027a0001c0001t0001g0146a0001c0002t0001g0002 | 3 | 388 | 0.0077 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 388 | 0.0026 | 14 | c.-32 others(25): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19174385 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0326 | 1 | 428 | 0.0023 | 14 | c.*31 others(25): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 2520 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177692 | G | GGAAAGAA others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 428 | 0.0023 | 14 | c.*43 others(29): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177696 | G | GGAAGAGA others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01975.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0159a0001c0001t0004g0313a0001c0001t0005g0059others(2): Show | 5 | 428 | 0.0117 | 14 | c.*43 others(29): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | G | GGAAGGAA others(7): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0144 | 2 | 382 | 0.0052 | 14 | c.-48 others(25): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231216 | A | AAGAAAGA others(7): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18975.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0145 | 3 | 382 | 0.0079 | 14 | c.-48 others(25): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4779 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33213100 | G | GTGTGTAT others(7): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120 | 2 | 416 | 0.0048 | 14 | c.-44 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 4251 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231205 | G | GGAAGGAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0005 | 2 | 416 | 0.0048 | 14 | c.*35 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3400 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231216 | A | AAGAAAGA others(7): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 NA18975.hp2 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0044 | 3 | 416 | 0.0072 | 14 | c.*35 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3411 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052540 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 374 | 0.0054 | 14 | c.-14 others(25): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1362 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052544 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0058 | 1 | 374 | 0.0027 | 14 | c.-14 others(25): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1358 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33052546 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 374 | 0.0027 | 14 | c.-14 others(25): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1356 | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33087753 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0029a0002c0002others(2): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0025others(46): Show | 77 | 344 | 0.2238 | 14 | c.927 others(31): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB4_chr20_33074643_33116751 | 33108423 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp1 others(37): Show |
a0002a0003a0010others(2): Show | a0002c0002a0003c0003a0010c0010others(2): Show | a0002c0002t0001a0003c0003t0001a0010c0010t0001others(2): Show | a0002c0002t0001g0070a0003c0003t0001g0009a0003c0003t0001g0021others(32): Show | 40 | 344 | 0.1163 | 14 | c.182 others(31): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFC_chr22_32408845_32469446 | 32423571 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp1 |
a0010a0012 | a0010c0012a0012c0011 | a0010c0012t0001a0012c0011t0003 | a0010c0012t0001g0195a0012c0011t0003g0008 | 2 | 422 | 0.0047 | 14 | c.121 others(33): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGGGTGTG others(7): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02129.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(2): Show | a0001c0001t0001g0415a0001c0001t0002g0238a0001c0001t0002g0396others(3): Show | 6 | 422 | 0.0142 | 14 | c.121 others(33): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02647.hp1 others(3): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0019a0003c0003others(2): Show | a0001c0001t0003a0001c0019t0001a0003c0003t0003others(2): Show | a0001c0001t0003g0297a0001c0019t0001g0130a0003c0003t0003g0021others(3): Show | 6 | 422 | 0.0142 | 14 | c.121 others(33): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar |