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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BNIPL_chr1_151031586_151052720 | 151036180 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0068others(3): Show | 6 | 362 | 0.0166 | -8 | c.-54 others(17): Show |
BNIPL | ENSG00000163141.20 | transcript | ENST00000368931.8 | protein_coding | 405 | chr1 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210224 | AACAAACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03540.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0112a0001c0002t0002g0275a0001c0006t0001g0113others(1): Show | 4 | 386 | 0.0104 | -8 | c.-19 others(19): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1332 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113210228 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0019a0001c0005t0006a0001c0006t0051others(2): Show | a0001c0001t0019g0185a0001c0005t0006g0234a0001c0006t0051g0194others(2): Show | 5 | 386 | 0.0130 | -8 | c.-19 others(19): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 1328 | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113232562 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(31): Show | a0001c0001t0001g0029a0001c0001t0001g0120a0001c0001t0001g0122others(130): Show | 135 | 386 | 0.3497 | -8 | c.-82 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113233148 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp1 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0009others(2): Show | a0001c0002t0017a0001c0002t0046a0001c0002t0047others(6): Show | a0001c0002t0017g0252a0001c0002t0046g0129a0001c0002t0047g0363others(10): Show | 13 | 386 | 0.0337 | -8 | c.-81 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236260 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0012a0001c0013a0002c0004others(3): Show | a0001c0012t0009a0001c0012t0019a0001c0013t0001others(4): Show | a0001c0012t0009g0195a0001c0012t0009g0242a0001c0012t0019g0176others(9): Show | 12 | 386 | 0.0311 | -8 | c.-81 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236282 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01361.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0002a0001c0005a0001c0014others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0008others(3): Show | a0001c0002t0002g0027a0001c0002t0002g0032a0001c0002t0002g0084others(8): Show | 11 | 386 | 0.0285 | -8 | c.-81 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113276988 | AAGATGAG others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02976.hp1 |
a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0102a0001c0014t0001g0118a0001c0014t0001g0273 | 3 | 386 | 0.0078 | -8 | c.154 others(27): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOLL_chr2_197721890_197790319 | 197754750 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01069.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0013others(51): Show | 66 | 328 | 0.2012 | -8 | c.729 others(25): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197784391 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(24): Show | 42 | 328 | 0.1281 | -8 | c.-16 others(23): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72723852 | TAAATAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 338 | 388 | 0.8711 | -8 | c.-41 others(19): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 4070 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72725458 | CCAAGAGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02083.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0013a0001c0001t0002g0060others(1): Show | 11 | 388 | 0.0284 | -8 | c.-25 others(19): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 2464 | chr13 | TogoVar | ||||||
BORA_chr13_72722923_72761196 | 72742767 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01123.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0036others(13): Show | 29 | 388 | 0.0747 | -8 | c.389 others(23): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BORCS8_chr19_19171906_19197152 | 19177640 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0194a0001c0001t0001g0222a0001c0001t0001g0226others(5): Show | 8 | 428 | 0.0187 | -8 | c.*43 others(23): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177689 | GAAGGAAG others(1): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 3 | 428 | 0.0070 | -8 | c.*43 others(23): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPGM_chr7_134641853_134684816 | 134659372 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02074.hp2 HG02615.hp1 others(33): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0038others(13): Show | 36 | 362 | 0.0995 | -8 | c.-61 others(25): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BPGM_chr7_134641853_134684816 | 134682496 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01168.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0040others(7): Show | 11 | 362 | 0.0304 | -8 | c.*34 others(19): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2681 | chr7 | TogoVar | ||||||
BPHL_chr6_3113711_3158578 | 3123205 | GGAAAAAT others(1): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 HG03491.hp2 others(4): Show |
a0003a0005 | a0003c0006a0005c0009 | a0003c0006t0001a0003c0006t0002a0005c0009t0001 | a0003c0006t0001g0232a0003c0006t0002g0229a0003c0006t0002g0230others(4): Show | 7 | 350 | 0.0200 | -8 | c.108 others(23): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BPHL_chr6_3113711_3158578 | 3158317 | GGTGTGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(74): Show | 100 | 350 | 0.2857 | -8 | c.*57 others(19): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4740 | chr6 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231150 | GAAGGAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 NA18906.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0156 | 3 | 382 | 0.0079 | -8 | c.-49 others(19): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4845 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231201 | GGAAGGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | NA18975.hp1 NA18992.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0045 | 3 | 382 | 0.0079 | -8 | c.-48 others(19): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4794 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(5): Show | 10 | 382 | 0.0262 | -8 | c.-48 others(19): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33237898 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0023a0001c0001t0001g0029others(22): Show | 42 | 382 | 0.1100 | -8 | c.160 others(21): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA2_chr20_33163159_33186412 | 33164559 | CTCTTTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02896.hp2 others(5): Show |
a0001a0003a0004 | a0001c0002a0003c0006a0004c0005 | a0001c0002t0001a0003c0006t0002a0004c0005t0001 | a0001c0002t0001g0028a0003c0006t0002g0014a0004c0005t0001g0010others(1): Show | 8 | 378 | 0.0212 | -8 | c.-36 others(19): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 3599 | chr20 | TogoVar | ||||||
BPIFA2_chr20_33163159_33186412 | 33184473 | CTTTATTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02723.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0003 | a0001c0001t0001g0002a0001c0001t0001g0020a0003c0009t0003g0077 | 4 | 378 | 0.0106 | -8 | c.*32 others(19): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 3062 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33222554 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 NA18950.hp2 NA18993.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0002 | a0001c0001t0001g0115a0002c0002t0001g0081a0003c0003t0002g0021others(1): Show | 6 | 416 | 0.0144 | -8 | c.128 others(25): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFA3_chr20_33212352_33232806 | 33227914 | CTCATTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02451.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090a0001c0001t0002g0009a0001c0001t0002g0010others(5): Show | 30 | 416 | 0.0721 | -8 | c.*29 others(17): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 109 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231150 | GAAGGAAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp1 NA18906.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0017 | 3 | 416 | 0.0072 | -8 | c.*35 others(19): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3345 | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33231205 | GGAAAGAA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01106.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0013 | a0001c0001t0001a0002c0002t0001a0010c0013t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 12 | 416 | 0.0289 | -8 | c.*35 others(19): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3400 | chr20 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33307210 | GTCATTCA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0018others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0022a0002c0002t0001g0121a0002c0002t0001g0256others(12): Show | 18 | 388 | 0.0464 | -8 | c.139 others(25): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB6_chr20_33026648_33049047 | 33048740 | GGGGTGTG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02074.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0000a0005c0005t0000 | a0001c0001t0000g0023a0001c0001t0000g0064a0001c0001t0000g0078others(4): Show | 15 | 384 | 0.0391 | -8 | c.*46 others(19): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4694 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32409535 | AAGAGCTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG02055.hp1 others(10): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0011 | a0001c0001t0003a0003c0003t0003a0012c0011t0003 | a0001c0001t0003g0013a0001c0001t0003g0025a0001c0001t0003g0126others(10): Show | 13 | 422 | 0.0308 | -8 | c.*47 others(19): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4309 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424630 | CTTCTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02056.hp2 HG03669.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0150a0001c0001t0001g0169others(4): Show | 7 | 422 | 0.0166 | -8 | c.121 others(27): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32450093 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02083.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0041a0001c0001t0001g0209a0001c0001t0001g0281others(11): Show | 14 | 422 | 0.0332 | -8 | c.246 others(25): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32457540 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG04199.hp1 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0285a0002c0002t0001g0098a0002c0002t0002g0095 | 3 | 422 | 0.0071 | -8 | c.1-1 others(19): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 2/16 | chr22 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220057034 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(62): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(52): Show | 65 | 424 | 0.1533 | -8 | c.*18 others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 447 | chr1 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220082081 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115a0001c0001t0003g0088a0001c0001t0003g0097 | 3 | 424 | 0.0071 | -8 | c.-8- others(23): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220090911 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG02155.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068a0001c0001t0001g0078a0001c0001t0001g0115others(5): Show | 8 | 424 | 0.0189 | -8 | c.-12 others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1124 | chr1 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220090943 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp1 HG03669.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0148a0001c0001t0003g0346a0001c0001t0003g0347 | 3 | 424 | 0.0071 | -8 | c.-12 others(19): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1156 | chr1 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67921209 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0165a0003c0004t0004g0166a0003c0004t0004g0167others(9): Show | 12 | 274 | 0.0438 | -8 | c.555 others(27): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67923471 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0166a0003c0004t0004g0167a0003c0004t0004g0168others(5): Show | 8 | 274 | 0.0292 | -8 | c.570 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67962134 | CAAAAGAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(123): Show |
a0001a0010a0011others(1): Show | a0001c0001a0001c0013a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(123): Show | 126 | 274 | 0.4599 | -8 | c.826 others(27): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67981984 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0106a0001c0003t0002g0088others(10): Show | 13 | 274 | 0.0475 | -8 | c.872 others(25): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAF_chr7_140714337_140929929 | 140787300 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp2 HG02109.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118others(27): Show | 30 | 190 | 0.1579 | -8 | c.117 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 9/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140883014 | GTAAATAA others(1): Show |
G | intron_variant | MODIFIER | HG03688.hp2 NA18959.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0131a0001c0001t0002g0106a0001c0001t0019g0130others(1): Show | 4 | 190 | 0.0211 | -8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140884429 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0032a0001c0002t0001others(1): Show | a0001c0001t0007g0133a0001c0001t0007g0136a0001c0001t0007g0137others(3): Show | 6 | 190 | 0.0316 | -8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140787300 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp2 HG02109.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0003a0001c0001t0016a0001c0001t0023others(11): Show | a0001c0001t0003g0116a0001c0001t0003g0117a0001c0001t0003g0122others(27): Show | 30 | 196 | 0.1531 | -8 | c.117 others(25): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 9/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140883014 | GTAAATAA others(1): Show |
G | intron_variant | MODIFIER | HG03688.hp2 NA18959.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0038a0001c0001t0041others(1): Show | a0001c0001t0002g0110a0001c0001t0038g0135a0001c0001t0041g0134others(1): Show | 4 | 196 | 0.0204 | -8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140884429 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0042others(1): Show | a0001c0001t0005g0192a0001c0001t0008g0137a0001c0001t0008g0138others(4): Show | 7 | 196 | 0.0357 | -8 | c.139 others(27): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2533446 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02486.hp1 others(8): Show |
a0001a0016 | a0001c0002a0016c0025 | a0001c0002t0001a0016c0025t0001 | a0001c0002t0001g0024a0001c0002t0001g0303a0001c0002t0001g0321others(7): Show | 11 | 424 | 0.0259 | -8 | c.*46 others(19): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4363 | chr7 | TogoVar |