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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOC_chr3_113206557_113292459 | 113236228 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0243 | 1 | 315 | 0.0032 | -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 | a0005c0019t0025 | a0005c0019t0025g0038 a0005c0019t0025g0039 |
2 | 384 | 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 | a0001c0006t0009 | a0001c0006t0009g0110 | 1 | 384 | 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 | a0001c0002t0014a0001c0006t0009a0001c0006t0043others(6): Show | a0001c0002t0014g0243 a0001c0006t0009g0110 a0001c0006t0009g0121 others(18): Show |
23 | 218 | 0.1055 | -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 |
a0003a0012a0013others(3): Show | a0003c0003a0003c0035a0012c0013others(4): Show | a0003c0003t0001a0003c0035t0001a0012c0013t0001others(4): Show | a0003c0003t0001g0001 a0003c0003t0001g0018 a0003c0003t0001g0032 others(14): Show |
27 | 256 | 0.1055 | -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 | a0001c0001t0009g0065 | 1 | 255 | 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 | a0001c0001t0001g0111 a0005c0005t0002g0002 a0005c0005t0002g0175 others(2): Show |
11 | 70 | 0.1571 | -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 | a0002c0008a0002c0031 | a0002c0008t0001a0002c0031t0001 | a0002c0008t0001g0004 a0002c0031t0001g0211 |
4 | 256 | 0.0156 | -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 | 219 | 0.0183 | -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(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 others(30): Show |
38 | 59 | 0.6441 | -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 | a0001c0001t0001g0285 | 1 | 396 | 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 | a0001c0001t0001g0225 | 1 | 103 | 0.0097 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0153 a0001c0003t0001g0130 |
3 | 386 | 0.0078 | -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 | a0001c0001t0001g0182 | 1 | 327 | 0.0031 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0138 others(6): Show |
17 | 90 | 0.1889 | -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 | a0001c0001t0001g0141 | 1 | 386 | 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 | 243 | 0.0041 | -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 | 452 | 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 | a0001c0001t0004g0118 | 1 | 425 | 0.0024 | -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 | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0066 others(10): Show |
13 | 30 | 0.4333 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(44): Show |
60 | 79 | 0.7595 | -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 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0147 |
3 | 354 | 0.0085 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0049 others(1): Show |
4 | 248 | 0.0161 | -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 | a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0108 others(4): Show |
7 | 21 | 0.3333 | -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 | a0001c0001t0001g0058 a0001c0001t0001g0150 a0001c0001t0001g0153 others(1): Show |
5 | 177 | 0.0282 | -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 | a0001c0001t0001g0120 | 1 | 122 | 0.0082 | -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 | a0002c0002t0001g0066 a0002c0002t0001g0067 a0003c0003t0002g0029 |
4 | 274 | 0.0146 | -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 | a0002c0002t0001g0005 a0002c0002t0001g0081 |
2 | 375 | 0.0053 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0007t0001g0040 others(1): Show |
5 | 258 | 0.0194 | -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 | a0002c0002t0001 | a0002c0002t0001g0002 | 6 | 122 | 0.0492 | -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 | a0005c0005t0002g0372 | 1 | 249 | 0.0040 | -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 | a0002c0002t0002g0071 a0003c0003t0003g0300 |
2 | 183 | 0.0109 | -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 | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0239 others(13): Show |
16 | 65 | 0.2462 | -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 | a0001c0001t0001g0133 | 1 | 420 | 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 | a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0063 others(144): Show |
147 | 380 | 0.3868 | -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 |
a0002a0008a0016 | a0002c0002a0008c0009a0016c0019 | a0002c0002t0001a0002c0002t0002a0008c0009t0001others(1): Show | a0002c0002t0001g0088 a0002c0002t0001g0116 a0002c0002t0002g0085 others(5): Show |
8 | 10 | 0.8000 | -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 | a0001c0001t0001g0177 a0001c0001t0001g0226 a0001c0001t0001g0298 others(56): Show |
73 | 229 | 0.3188 | -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 | a0001c0001t0002g0110 | 1 | 416 | 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 | a0001c0001t0001g0064 a0001c0001t0004g0250 |
2 | 204 | 0.0098 | -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 | a0001c0001t0002g0176 a0001c0001t0002g0181 |
2 | 421 | 0.0048 | -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 | a0001c0001t0001g0179 | 1 | 201 | 0.0050 | -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 | a0001c0003t0002g0089 a0001c0003t0003g0094 a0001c0003t0003g0097 others(1): Show |
4 | 237 | 0.0169 | -12 | c.186 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67898671 | TTTTTTGA others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0001 a0003c0004t0004g0166 a0003c0004t0004g0167 others(8): Show |
12 | 272 | 0.0441 | -12 | c.254 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67919173 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0032a0002c0006a0002c0014others(4): Show | a0001c0032t0002a0002c0006t0002a0002c0014t0002others(4): Show | a0001c0032t0002g0008 a0002c0006t0002g0006 a0002c0006t0002g0009 others(18): Show |
21 | 106 | 0.1981 | -12 | c.542 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67921209 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02818.hp1 others(6): Show |
a0001a0009 | a0001c0005a0009c0023 | a0001c0005t0005a0009c0023t0005 | a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 others(6): Show |
9 | 116 | 0.0776 | -12 | c.555 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67953961 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0060 a0001c0001t0006g0044 |
2 | 11 | 0.1818 | -12 | c.792 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67955277 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(221): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0015a0001c0016others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 others(221): Show |
224 | 232 | 0.9655 | -12 | c.792 others(31): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67981984 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02486.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0032others(5): Show | a0001c0001t0001a0001c0003t0003a0001c0032t0002others(5): Show | a0001c0001t0001g0152 a0001c0003t0003g0097 a0001c0032t0002g0008 others(10): Show |
13 | 14 | 0.9286 | -12 | c.872 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAF_chr7_140714337_140929929 | 140732170 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 25 | 0.0400 | -12 | c.240 others(31): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140883014 | GTAAATAA others(5): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0126 | 1 | 143 | 0.0070 | -12 | c.139 others(31): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar |