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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNC2_chr9_16404503_16875670 | 16485111 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0172 | 1 | 176 | 0.0057 | 12 | c.670 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16497978 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0087 | a0001c0005t0087g0157 | 1 | 176 | 0.0057 | 12 | c.669 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16589497 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02735.hp1 HG02735.hp2 others(1): Show |
a0001a0005a0014 | a0001c0001a0005c0006a0014c0019 | a0001c0001t0057a0001c0001t0088a0005c0006t0026others(1): Show | a0001c0001t0057g0173 a0001c0001t0088g0093 a0005c0006t0026g0049 others(1): Show |
4 | 176 | 0.0227 | 12 | c.331 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16616790 | G | GGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(26): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(19): Show | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0053 others(26): Show |
29 | 176 | 0.1648 | 12 | c.331 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16616837 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0158 | 1 | 176 | 0.0057 | 12 | c.331 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16630749 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01361.hp2 others(14): Show |
a0001a0013a0014 | a0001c0001a0013c0011a0014c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0031 a0001c0001t0002g0167 a0001c0001t0007g0065 others(14): Show |
17 | 176 | 0.0966 | 12 | c.331 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16663121 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0008 | a0003c0008t0025 | a0003c0008t0025g0066 | 1 | 176 | 0.0057 | 12 | c.330 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16665386 | A | AAAAGAGA others(5): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 176 | 0.0057 | 12 | c.330 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16665386 | A | AAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0133 | 1 | 176 | 0.0057 | 12 | c.330 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02280.hp2 others(3): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0008a0001c0001t0021a0001c0001t0097others(3): Show | a0001c0001t0008g0174 a0001c0001t0021g0134 a0001c0001t0097g0080 others(3): Show |
6 | 176 | 0.0341 | 12 | c.330 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16690462 | T | TATACATA others(5): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0131 | 1 | 176 | 0.0057 | 12 | c.330 others(31): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16725217 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0030 | 1 | 176 | 0.0057 | 12 | c.330 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16725985 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 176 | 0.0057 | 12 | c.330 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01106.hp1 others(28): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0031 others(28): Show |
31 | 176 | 0.1761 | 12 | c.130 others(29): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16743955 | A | AGTTTGTT others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02897.hp2 HG06807.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(3): Show | a0001c0001t0002g0112 a0001c0001t0008g0174 a0001c0001t0021g0064 others(3): Show |
6 | 176 | 0.0341 | 12 | c.4-5 others(25): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16748922 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0022 | a0001c0001t0020a0001c0001t0034a0002c0022t0001 | a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0034g0115 others(1): Show |
4 | 176 | 0.0227 | 12 | c.4-1 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16811230 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01361.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0018 | a0001c0001t0015a0001c0001t0048a0001c0001t0080others(2): Show | a0001c0001t0015g0091 a0001c0001t0048g0101 a0001c0001t0080g0069 others(2): Show |
5 | 176 | 0.0284 | 12 | c.3+5 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16847409 | G | GGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02897.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0001g0044 a0001c0001t0011g0107 a0001c0001t0013g0140 others(1): Show |
4 | 176 | 0.0227 | 12 | c.3+2 others(27): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148083 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 352 | 0.0028 | 12 | c.177 others(29): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP3L_chr8_26378054_26418127 | 26388807 | C | CTAAATAA others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 others(2): Show |
5 | 406 | 0.0123 | 12 | c.101 others(29): Show |
BNIP3L | ENSG00000104765.16 | transcript | ENST00000380629.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BNIP3_chr10_131962684_131986923 | 131982121 | C | CGGGCGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0137 a0001c0001t0001g0138 |
6 | 438 | 0.0137 | 12 | c.-31 others(21): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 199 | chr10 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36324575 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0270 | 1 | 424 | 0.0024 | 12 | c.116 others(29): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36338431 | G | GAGGAAGG others(5): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01081.hp2 others(3): Show |
a0001a0008a0012others(1): Show | a0001c0001a0008c0012a0012c0030others(1): Show | a0001c0001t0001a0008c0012t0014a0012c0030t0001others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0264 a0001c0001t0001g0268 others(3): Show |
6 | 424 | 0.0142 | 12 | c.-17 others(23): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1544 | chr6 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36338431 | G | GAGGGAGG others(5): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(14): Show |
21 | 424 | 0.0495 | 12 | c.-17 others(23): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 1544 | chr6 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18972.hp1 NA18991.hp1 others(2): Show |
a0001a0016 | a0001c0001a0001c0021a0016c0033 | a0001c0001t0002a0001c0001t0008a0001c0021t0007others(1): Show | a0001c0001t0002g0173 a0001c0001t0002g0321 a0001c0001t0008g0210 others(2): Show |
5 | 386 | 0.0130 | 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 | 113247500 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0343 | 1 | 386 | 0.0026 | 12 | c.-81 others(29): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1L1_chr4_13563738_13632725 | 13573438 | G | GTCTATCT others(5): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0079 a0001c0014t0001g0047 |
2 | 258 | 0.0078 | 12 | c.903 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573442 | G | GTCTATCT others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01515.hp2 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(5): Show | a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0101 others(14): Show |
17 | 258 | 0.0659 | 12 | c.903 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573442 | G | GTCTGTCT others(5): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0213 | 1 | 258 | 0.0039 | 12 | c.903 others(31): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241558054 | G | GACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001a0008 | a0001c0001a0008c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0289 a0001c0001t0001g0290 others(9): Show |
14 | 434 | 0.0323 | 12 | c.-96 others(21): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 690 | chr2 | TogoVar | |||||||
BOLA2_chr16_29448593_29459351 | 29451048 | A | ATATAATA others(5): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01261.hp1 HG01517.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0003 |
59 | 174 | 0.3391 | 12 | c.*25 others(23): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2544 | chr16 | TogoVar | |||||||
BOLL_chr2_197721890_197790319 | 197754750 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 328 | 0.0031 | 12 | c.729 others(29): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144283201 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02615.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0013 | a0001c0001t0001a0002c0004t0001a0005c0013t0001 | a0001c0001t0001g0015 a0001c0001t0001g0187 a0001c0001t0001g0218 others(11): Show |
15 | 398 | 0.0377 | 12 | c.309 others(29): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02895.hp2 HG02897.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0016 a0003c0005t0001g0016 |
3 | 388 | 0.0077 | 12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0164 others(1): Show |
4 | 388 | 0.0103 | 12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATATGT others(5): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 388 | 0.0026 | 12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATATGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01069.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0095 others(6): Show |
11 | 388 | 0.0284 | 12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724752 | A | ATGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 HG02965.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0027 a0001c0001t0001g0171 a0001c0001t0002g0003 others(3): Show |
6 | 388 | 0.0155 | 12 | c.-32 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3170 | chr13 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177640 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 428 | 0.0023 | 12 | c.*43 others(27): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177685 | G | GAAAAGAA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02083.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0004g0287 |
3 | 428 | 0.0070 | 12 | c.*43 others(27): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231182 | G | GAAGGAAG others(5): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0083 a0001c0001t0004g0077 |
2 | 382 | 0.0052 | 12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4813 | chr20 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231186 | G | GAAGGAAG others(5): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 382 | 0.0026 | 12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4809 | chr20 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231201 | G | GGAAAGAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 382 | 0.0026 | 12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4794 | chr20 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | G | GGAAAGAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 382 | 0.0026 | 12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | G | GGAAGGAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02300.hp1 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 others(2): Show |
6 | 382 | 0.0157 | 12 | c.-48 others(23): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33240645 | T | TGATAGAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0002g0084 |
2 | 382 | 0.0052 | 12 | c.581 others(27): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFA2_chr20_33163159_33186412 | 33185275 | T | TGGCTGGG others(5): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0007others(1): Show | a0001c0001t0001a0003c0006t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0039 a0003c0006t0001g0026 others(3): Show |
9 | 378 | 0.0238 | 12 | c.*40 others(23): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 3864 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33222635 | A | AATGGATG others(5): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 416 | 0.0024 | 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 | 33231182 | G | GAAGGAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 NA18963.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0002 | a0001c0001t0001g0019 a0006c0008t0002g0125 |
2 | 416 | 0.0048 | 12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3377 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231186 | G | GAAGGAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 416 | 0.0024 | 12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3381 | chr20 | TogoVar |