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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPR1A_chr10_86751619_86932969 | 86884394 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG02647.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0007a0001c0002t0040a0002c0001t0011 | a0001c0002t0007g0031 a0001c0002t0040g0037 a0002c0001t0011g0016 |
3 | 26 | 0.1154 | 11 | c.68- others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86906723 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19007.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0024 | a0002c0001t0002g0259 a0002c0001t0024g0232 |
2 | 183 | 0.0109 | 11 | c.531 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86925719 | A | ACCTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0161 | 1 | 273 | 0.0037 | 11 | c.*20 others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2001 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01074.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0004a0001c0002t0030a0001c0002t0047others(5): Show | a0001c0002t0004g0051 a0001c0002t0004g0056 a0001c0002t0004g0065 others(24): Show |
27 | 123 | 0.2195 | 11 | c.*20 others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94845107 | G | GATCTAAT others(4): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 224 | 0.0045 | 11 | c.-18 others(32): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94937707 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 220 | 0.0045 | 11 | c.-11 others(32): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 94970302 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01167.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0116 others(24): Show |
27 | 174 | 0.1552 | 11 | c.-11 others(32): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
BMPR1B_chr4_94752955_95163448 | 95026098 | A | ATTCTTTC others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0086 | 1 | 84 | 0.0119 | 11 | c.-18 others(30): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202373158 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182 | 1 | 59 | 0.0169 | 11 | c.-43 others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3168 | chr2 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTTTTTC others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0012others(3): Show | a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 others(26): Show |
29 | 40 | 0.7250 | 11 | c.76+ others(26): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0057 | 1 | 10 | 0.1000 | 11 | c.418 others(30): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202572271 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0143 | 1 | 3 | 0.3333 | 11 | c.*12 others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 4523 | chr2 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112899789 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0002t0008 | a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 others(4): Show |
8 | 98 | 0.0816 | 11 | c.303 others(28): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BMT2_chr7_112814147_112944875 | 112902416 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01943.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0133 |
3 | 150 | 0.0200 | 11 | c.303 others(28): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
BMX_chrX_15495807_15561519 | 15527247 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 37 | 0.0270 | 11 | c.884 others(28): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 9/18 | chrX | TogoVar | |||||||
BNC1_chr15_83250884_83289664 | 83272394 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 164 | 0.0061 | 11 | c.100 others(28): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16539730 | G | GAAAGGAA others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0105 | a0001c0001t0007g0160 a0001c0001t0105g0061 |
2 | 166 | 0.0120 | 11 | c.669 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16614958 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0084 | 1 | 2 | 0.5000 | 11 | c.331 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16630749 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0048 | a0001c0001t0007g0086 a0001c0001t0048g0116 |
2 | 64 | 0.0313 | 11 | c.331 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16643305 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 54 | 0.0185 | 11 | c.331 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16663121 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0024 | 1 | 169 | 0.0059 | 11 | c.330 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0115 | 1 | 13 | 0.0769 | 11 | c.330 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0029 | a0001c0001t0024g0133 a0001c0002t0029g0057 a0001c0002t0029g0175 |
3 | 24 | 0.1250 | 11 | c.130 others(28): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16788891 | T | TTGAAACG others(4): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048a0001c0001t0049others(2): Show | a0001c0001t0001g0056 a0001c0001t0048g0116 a0001c0001t0049g0067 others(2): Show |
5 | 174 | 0.0287 | 11 | c.4-5 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16811230 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01496.hp2 others(7): Show |
a0001a0010 | a0001c0001a0001c0015a0010c0009 | a0001c0001t0005a0001c0001t0015a0001c0001t0018others(7): Show | a0001c0001t0005g0102 a0001c0001t0015g0145 a0001c0001t0018g0173 others(7): Show |
10 | 39 | 0.2564 | 11 | c.3+5 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16847409 | G | GGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18952.hp2 NA18983.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0016a0001c0001t0023others(1): Show | a0001c0001t0010g0142 a0001c0001t0016g0162 a0001c0001t0023g0084 others(1): Show |
4 | 94 | 0.0426 | 11 | c.3+2 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BNIP1_chr5_173139531_173169387 | 173148062 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 299 | 0.0033 | 11 | c.177 others(28): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BNIP3_chr10_131962684_131986923 | 131981698 | T | TTGGCCTC others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0138 a0001c0001t0003g0004 a0001c0001t0003g0011 others(13): Show |
51 | 436 | 0.1170 | 11 | c.46+ others(22): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36311707 | T | TTCTCCCT others(4): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG01975.hp1 HG02027.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0115 a0002c0002t0001g0040 others(17): Show |
21 | 422 | 0.0498 | 11 | c.*56 others(22): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 4053 | chr6 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113233148 | G | GGGTGTGT others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 |
a0002 | a0002c0004 | a0002c0004t0007a0002c0004t0034 | a0002c0004t0007g0330 a0002c0004t0034g0207 |
2 | 74 | 0.0270 | 11 | c.-81 others(30): 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(4): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19060.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0043 a0001c0008t0005g0283 |
2 | 11 | 0.1818 | 11 | c.-81 others(28): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113269951 | G | GCCAAATG others(4): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0324 a0002c0004t0007g0325 |
2 | 384 | 0.0052 | 11 | c.524 others(26): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOD1_chr5_173602145_173621650 | 173608048 | A | AGTGTCTA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0058 | 1 | 414 | 0.0024 | 11 | c.*23 others(20): Show |
BOD1 | ENSG00000145919.11 | transcript | ENST00000311086.9 | protein_coding | 4/4 | 1190 | chr5 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144266177 | G | GTCCCGCT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02970.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0029 others(2): Show |
5 | 396 | 0.0126 | 11 | c.391 others(28): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 3/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144283201 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG03041.hp1 others(2): Show |
a0001a0002a0010 | a0001c0001a0002c0004a0010c0021 | a0001c0001t0001a0002c0004t0001a0010c0021t0001 | a0001c0001t0001g0055 a0001c0001t0001g0215 a0001c0001t0001g0216 others(2): Show |
5 | 107 | 0.0467 | 11 | c.309 others(28): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BORA_chr13_72722923_72761196 | 72724701 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 361 | 0.0028 | 11 | c.-33 others(22): Show |
BORA | ENSG00000136122.18 | transcript | ENST00000390667.11 | protein_coding | 3221 | chr13 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177684 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0138 |
2 | 403 | 0.0050 | 11 | c.*43 others(26): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177689 | G | GAAAAGAA others(4): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 346 | 0.0029 | 11 | c.*43 others(26): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19177692 | G | GAGAAAAG others(4): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02630.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0055 |
3 | 332 | 0.0090 | 11 | c.*43 others(26): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BPIFA1_chr20_33230996_33248306 | 33231205 | G | GAAAGAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 245 | 0.0041 | 11 | c.-48 others(22): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4790 | chr20 | TogoVar | |||||||
BPIFA2_chr20_33163159_33186412 | 33164702 | T | TTTCTTTC others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01261.hp1 HG01884.hp1 others(40): Show |
a0001a0003a0004 | a0001c0002a0003c0006a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0004a0003c0006t0001others(4): Show | a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0028 others(11): Show |
43 | 376 | 0.1144 | 11 | c.-35 others(22): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 3456 | chr20 | TogoVar | |||||||
BPIFB6_chr20_33026648_33049047 | 33048613 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 382 | 0.0026 | 11 | c.*45 others(22): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 4567 | chr20 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424627 | C | CTTCTTCT others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02451.hp2 HG02818.hp1 others(5): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0002c0002t0002a0007c0007t0002 | a0002c0002t0001g0053 a0002c0002t0001g0108 a0002c0002t0001g0291 others(5): Show |
8 | 418 | 0.0191 | 11 | c.121 others(30): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG01361.hp1 HG01361.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0001others(3): Show | a0001c0001t0001g0037 a0002c0002t0001g0019 a0002c0002t0001g0061 others(13): Show |
17 | 63 | 0.2698 | 11 | c.*24 others(22): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67843754 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0003 | a0001c0003t0003g0086 a0001c0009t0003g0083 |
2 | 76 | 0.0263 | 11 | c.614 others(30): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0196 | 1 | 99 | 0.0101 | 11 | c.530 others(30): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp1 others(1): Show |
a0001a0008 | a0001c0003a0001c0009a0008c0028 | a0001c0003t0003a0001c0009t0003a0008c0028t0009 | a0001c0003t0003g0091 a0001c0009t0003g0083 a0001c0009t0003g0084 others(1): Show |
4 | 8 | 0.5000 | 11 | c.625 others(30): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67981866 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0108 | 1 | 22 | 0.0455 | 11 | c.872 others(28): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | chr17 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140732170 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 25 | 0.0400 | 11 | c.240 others(30): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 19/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140798262 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0174 a0001c0001t0004g0159 a0001c0001t0004g0161 others(17): Show |
20 | 183 | 0.1093 | 11 | c.980 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 7/19 | chr7 | TogoVar |