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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFA3_chr20_33212352_33232806 | 33231201 | G | GGAAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 |
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 | G | GGAAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0009 |
2 | 416 | 0.0048 | 12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3400 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33231205 | G | GGAAGGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02300.hp1 NA18943.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0024 a0002c0002t0001g0066 others(2): Show |
6 | 416 | 0.0144 | 12 | c.*35 others(23): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 3400 | chr20 | TogoVar | |||||||
BPIFB2_chr20_33002704_33028703 | 33025731 | G | GTCCATCC others(5): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00673.hp2 others(66): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0158 others(34): Show |
69 | 388 | 0.1778 | 12 | c.*23 others(23): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 2029 | chr20 | TogoVar | |||||||
BPIFB2_chr20_33002704_33028703 | 33025792 | A | ATTTAGCT others(5): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0083 | 1 | 388 | 0.0026 | 12 | c.*24 others(23): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 2090 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052540 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02071.hp2 HG02273.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
5 | 374 | 0.0134 | 12 | c.-14 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1362 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052542 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 374 | 0.0027 | 12 | c.-14 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1360 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052544 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA18906.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0008 | a0001c0001t0001a0003c0003t0001a0004c0008t0001 | a0001c0001t0001g0026 a0001c0001t0001g0137 a0003c0003t0001g0015 others(3): Show |
7 | 374 | 0.0187 | 12 | c.-14 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1358 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052546 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 NA19085.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 a0002c0002t0002g0038 |
2 | 374 | 0.0054 | 12 | c.-14 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1356 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33052548 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 2 | 374 | 0.0054 | 12 | c.-14 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 1354 | chr20 | TogoVar | |||||||
BPIFB3_chr20_33048903_33078847 | 33074649 | C | CCCGTCCA others(5): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0042 | 1 | 374 | 0.0027 | 12 | c.*10 others(23): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 803 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33074649 | C | CCCATCCA others(5): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0034 | 1 | 344 | 0.0029 | 12 | c.-51 others(23): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 4993 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33074649 | C | CCCGTCCA others(5): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0130 | 1 | 344 | 0.0029 | 12 | c.-51 others(23): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 4993 | chr20 | TogoVar | |||||||
BPIFB4_chr20_33074643_33116751 | 33087753 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0001a0002a0010others(3): Show | a0001c0001a0002c0002a0010c0010others(3): Show | a0001c0001t0001a0002c0002t0001a0010c0010t0001others(3): Show | a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 others(12): Show |
15 | 344 | 0.0436 | 12 | c.927 others(29): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33107221 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18941.hp2 NA18953.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 a0002c0002t0001g0082 a0002c0002t0001g0091 |
5 | 344 | 0.0145 | 12 | c.174 others(29): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33108423 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01496.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0162 a0003c0003t0001g0169 a0004c0004t0001g0041 |
3 | 344 | 0.0087 | 12 | c.182 others(29): 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(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0133 a0003c0003t0003g0053 |
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 | 32423577 | G | GGGGTGTG others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp1 HG01934.hp1 others(16): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0004others(2): Show | a0001c0001t0002a0003c0003t0002a0005c0004t0002others(2): Show | a0001c0001t0002g0028 a0001c0001t0002g0074 a0001c0001t0002g0156 others(15): Show |
19 | 422 | 0.0450 | 12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32423577 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01256.hp2 others(9): Show |
a0001a0006a0008 | a0001c0001a0006c0006a0008c0010 | a0001c0001t0002a0006c0006t0001a0008c0010t0002 | a0001c0001t0002g0350 a0006c0006t0001g0004 a0006c0006t0001g0019 others(8): Show |
12 | 422 | 0.0284 | 12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424574 | T | TTTCTTCT others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 a0001c0001t0002g0338 |
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 | 32424642 | C | CTCTTCTT others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01081.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0165 a0002c0002t0001g0005 a0002c0002t0001g0045 others(19): Show |
23 | 422 | 0.0545 | 12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424681 | T | TTCTTCTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0064 | 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 | 32424696 | T | TTCTTCTT others(5): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0343 | 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 | 32424741 | C | CTCTTCTT others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02647.hp1 HG02922.hp2 |
a0001a0009 | a0001c0001a0001c0024a0009c0019 | a0001c0001t0001a0001c0024t0001a0009c0019t0001 | a0001c0001t0001g0009 a0001c0024t0001g0130 a0009c0019t0001g0127 |
3 | 422 | 0.0071 | 12 | c.121 others(31): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32464646 | A | AACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01993.hp1 HG04228.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0057 a0001c0001t0002g0074 a0002c0002t0001g0035 others(3): Show |
6 | 422 | 0.0142 | 12 | c.-36 others(21): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 201 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302460 | C | CAATAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp2 others(76): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0013 a0001c0001t0001g0248 a0001c0001t0001g0312 others(62): Show |
79 | 426 | 0.1855 | 12 | c.-17 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302496 | T | TAATAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
a0002a0004a0013others(2): Show | a0002c0002a0004c0004a0013c0040others(2): Show | a0002c0002t0001a0004c0004t0001a0013c0040t0001others(2): Show | a0002c0002t0001g0169 a0004c0004t0001g0225 a0013c0040t0001g0263 others(2): Show |
5 | 426 | 0.0117 | 12 | c.-17 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1659 | chr20 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38320661 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01192.hp2 others(4): Show |
a0002a0006a0007others(1): Show | a0002c0002a0006c0005a0006c0044others(2): Show | a0002c0002t0001a0006c0005t0001a0006c0044t0002others(3): Show | a0002c0002t0001g0121 a0006c0005t0001g0181 a0006c0044t0002g0237 others(3): Show |
7 | 426 | 0.0164 | 12 | c.756 others(27): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38320661 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0216 | 1 | 426 | 0.0024 | 12 | c.756 others(27): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38329005 | C | CTAAATAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(105): Show |
a0002a0003a0008others(18): Show | a0002c0002a0003c0003a0008c0008others(23): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(28): Show | a0002c0002t0001g0092 a0003c0003t0001g0005 a0003c0003t0001g0011 others(86): Show |
108 | 426 | 0.2535 | 12 | c.122 others(31): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01978.hp1 HG02257.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0266 a0002c0002t0001g0128 others(5): Show |
8 | 426 | 0.0188 | 12 | c.*24 others(23): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220076701 | T | TTAATAAT others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02723.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0001 | a0001c0001t0004g0200 a0001c0001t0004g0257 a0001c0001t0004g0259 others(4): Show |
8 | 424 | 0.0189 | 12 | c.121 others(29): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220082085 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0243 | 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 | 220090949 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02572.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 others(2): Show |
5 | 424 | 0.0118 | 12 | c.-12 others(23): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090949 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0158 |
2 | 424 | 0.0047 | 12 | c.-12 others(23): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1162 | chr1 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02622.hp1 HG03239.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0003a0003c0008t0003 | a0001c0001t0001g0103 a0001c0001t0003g0006 a0001c0001t0003g0242 others(6): Show |
15 | 356 | 0.0421 | 12 | c.388 others(27): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02109.hp2 HG02615.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0013a0001c0001t0030others(1): Show | a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0205 others(7): Show |
10 | 356 | 0.0281 | 12 | c.388 others(27): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56980819 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0180 | 1 | 356 | 0.0028 | 12 | c.388 others(27): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67843754 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0003 | a0001c0003t0003g0084 a0001c0003t0003g0086 a0001c0003t0003g0094 others(1): Show |
4 | 274 | 0.0146 | 12 | c.614 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67873992 | C | CTGGATGG others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02965.hp1 others(4): Show |
a0001a0003a0011 | a0001c0003a0003c0035a0003c0036others(1): Show | a0001c0003t0003a0003c0035t0010a0003c0036t0008others(1): Show | a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 others(4): Show |
7 | 274 | 0.0256 | 12 | c.166 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20805.hp1 |
a0002a0024 | a0002c0002a0024c0022 | a0002c0002t0002a0024c0022t0002 | a0002c0002t0002g0181 a0024c0022t0002g0208 |
2 | 274 | 0.0073 | 12 | c.530 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67979169 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0035 | a0003c0035t0010 | a0003c0035t0010g0098 | 1 | 274 | 0.0037 | 12 | c.872 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67981866 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01981.hp2 others(16): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0042others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(5): Show | a0001c0001t0001g0154 a0002c0002t0002g0191 a0002c0002t0002g0199 others(16): Show |
19 | 274 | 0.0693 | 12 | c.872 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67984627 | C | CTTCTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 274 | 0.0037 | 12 | c.*23 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 250 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67984630 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18986.hp2 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0002a0005c0008t0002 | a0002c0002t0002g0213 a0005c0008t0002g0102 |
2 | 274 | 0.0073 | 12 | c.*23 others(23): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 253 | chr17 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140732170 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 190 | 0.0053 | 12 | c.240 others(31): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140772272 | T | TACAACAA others(5): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0142 a0001c0001t0002g0091 |
2 | 190 | 0.0105 | 12 | c.181 others(31): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140798262 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 190 | 0.0053 | 12 | c.980 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140798272 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0093 a0001c0001t0002g0087 a0001c0001t0002g0088 others(108): Show |
111 | 190 | 0.5842 | 12 | c.980 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140812160 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 a0001c0001t0002g0154 |
2 | 190 | 0.0105 | 12 | c.505 others(29): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 3/19 | chr7 | TogoVar |