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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTCTT others(18): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 204 | 0.0049 | 25 | c.297 others(42): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTTTT others(18): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0134 | 1 | 204 | 0.0049 | 25 | c.297 others(42): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0283 | 1 | 308 | 0.0033 | 25 | c.665 others(44): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02083.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0196a0001c0001t0001g0210 | 3 | 308 | 0.0097 | 25 | c.665 others(44): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0250 | 1 | 308 | 0.0033 | 25 | c.665 others(44): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94770182 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0049 | a0001c0001t0045g0102a0001c0001t0049g0085 | 2 | 226 | 0.0089 | 25 | c.-18 others(46): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94970239 | T | TTCTTCTC others(18): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070a0001c0001t0009g0071 | 2 | 226 | 0.0089 | 25 | c.-11 others(46): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(18): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01192.hp2 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0104a0001c0001t0001g0109a0001c0001t0001g0162others(20): Show | 23 | 224 | 0.1027 | 25 | c.76+ others(40): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 224 | 0.0045 | 25 | c.77- others(42): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0050a0001c0002t0002 | a0001c0001t0050g0017a0001c0002t0002g0049 | 2 | 224 | 0.0089 | 25 | c.77- others(42): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BNC2_chr9_16404503_16875670 | 16539597 | C | CGAGGGAG others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0002t0029 | a0001c0001t0063g0077a0001c0002t0029g0057a0001c0002t0029g0175 | 3 | 176 | 0.0171 | 25 | c.669 others(44): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539750 | G | GAAGGAAA others(18): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0035 | a0001c0001t0024g0018a0001c0001t0035g0067 | 2 | 176 | 0.0114 | 25 | c.669 others(44): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260721 | A | AAGAACAG others(18): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03704.hp2 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0050a0001c0008t0004 | a0001c0006t0050g0115a0001c0008t0004g0292 | 2 | 386 | 0.0052 | 25 | c.377 others(42): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260721 | A | ACAGAAAG others(18): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0004 | a0004c0011 | a0004c0011t0004 | a0004c0011t0004g0202 | 1 | 386 | 0.0026 | 25 | c.377 others(42): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
BORCS8_chr19_19171906_19197152 | 19177696 | G | GGAAAAAG others(18): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 428 | 0.0023 | 25 | c.*43 others(40): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BPIFA1_chr20_33230996_33248306 | 33231213 | A | AGGAAGGA others(18): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 382 | 0.0026 | 25 | c.-48 others(36): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 4782 | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33059551 | A | ACTCTGCT others(18): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 374 | 0.0027 | 25 | c.374 others(38): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18986.hp2 |
a0004a0023 | a0004c0004a0023c0028 | a0004c0004t0003a0023c0028t0003 | a0004c0004t0003g0006a0023c0028t0003g0006 | 2 | 426 | 0.0047 | 25 | c.*24 others(36): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 NA18954.hp2 |
a0002 | a0002c0002a0002c0027 | a0002c0002t0002a0002c0027t0002 | a0002c0002t0002g0188a0002c0002t0002g0193a0002c0027t0002g0198 | 3 | 274 | 0.0110 | 25 | c.530 others(44): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAP_chr12_111637146_111690956 | 111667698 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 364 | 0.0028 | 25 | c.748 others(42): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(6): Show | 9 | 424 | 0.0212 | 25 | c.127 others(42): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2552107 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18969.hp2 NA19000.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0003t0001a0004c0007t0001 | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0003t0001g0254others(2): Show | 5 | 424 | 0.0118 | 25 | c.127 others(42): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
BRCA1_chr17_43039295_43130364 | 43100678 | A | ATATAACA others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0142a0003c0003t0002g0147a0003c0003t0002g0157others(3): Show | 6 | 276 | 0.0217 | 25 | c.442 others(40): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105214441 | C | CCACCCCT others(18): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 72 | 0.0139 | 25 | c.177 others(44): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 15/17 | chr14 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105214525 | C | CGTGGCTC others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 72 | 0.0139 | 25 | c.177 others(44): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 15/17 | chr14 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0113a0001c0001t0001g0115a0001c0001t0001g0116others(5): Show | 8 | 410 | 0.0195 | 25 | c.213 others(42): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAAAAT others(18): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 414 | 0.0024 | 25 | c.-15 others(36): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAATAT others(18): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0033 | 2 | 414 | 0.0048 | 25 | c.-15 others(36): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAATATAT others(18): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 414 | 0.0048 | 25 | c.-15 others(36): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0019others(4): Show | 7 | 414 | 0.0169 | 25 | c.-15 others(36): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 414 | 0.0024 | 25 | c.-15 others(36): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61689026 | C | CTGTTATG others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0023others(51): Show | 54 | 266 | 0.2030 | 25 | c.257 others(44): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0270a0001c0001t0004g0292 | 2 | 338 | 0.0059 | 25 | c.248 others(44): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39312985 | C | CGGCGGGC others(18): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0046 | a0001c0001t0015g0252a0001c0001t0015g0253a0001c0001t0015g0254others(2): Show | 5 | 338 | 0.0148 | 25 | c.138 others(38): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 3/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809774 | A | AGAGAGAG others(18): Show |
5_prime_UTR_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0170 | 1 | 265 | 0.0038 | 25 | c.-32 others(34): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 304 | chrX | TogoVar | |||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0197 | a0001c0001t0197g0012 | 1 | 448 | 0.0022 | 25 | c.-23 others(36): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49587887 | T | TTTTTCTT others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00642.hp2 others(24): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0018others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0110a0001c0001t0002g0131a0001c0001t0002g0133others(24): Show | 27 | 186 | 0.1452 | 25 | c.224 others(44): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49606203 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0147a0001c0001t0030g0121 | 2 | 186 | 0.0108 | 25 | c.225 others(44): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01243.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(6): Show | 21 | 422 | 0.0498 | 25 | c.-18 others(36): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122983528 | A | AAAAGAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 25 | c.-18 others(36): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1695 | chr11 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44814148 | C | CTCTTTCT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0003 | 1 | 436 | 0.0023 | 25 | c.*39 others(34): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 392 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
BTBD19_chr1_44803523_44820585 | 44816327 | A | AAATATAT others(18): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0007 | 2 | 436 | 0.0046 | 25 | c.*25 others(36): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 743 | chr1 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816446 | G | GTGAGTAT others(18): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 436 | 0.0023 | 25 | c.*26 others(36): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 862 | chr1 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2017817 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0141 | 1 | 364 | 0.0028 | 25 | c.-21 others(36): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2104 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2017817 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0143 | 1 | 364 | 0.0028 | 25 | c.-21 others(36): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2104 | chr19 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38374280 | A | AAGTATAT others(18): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0096 | 1 | 224 | 0.0045 | 25 | c.115 others(46): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38417801 | A | AGAGAGAG others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02300.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0087a0001c0001t0170others(2): Show | a0001c0001t0017g0006a0001c0001t0087g0083a0001c0001t0170g0178others(2): Show | 5 | 224 | 0.0223 | 25 | c.115 others(46): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTLA_chr3_112458966_112504472 | 112470783 | A | AAGGGTGT others(18): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 344 | 0.0029 | 25 | c.547 others(40): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101387528 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0173a0001c0001t0002g0218a0001c0001t0004g0165others(8): Show | 11 | 266 | 0.0414 | 25 | c.48+ others(42): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101455983 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0249 | 1 | 266 | 0.0038 | 25 | c.157 others(42): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | chr10 | TogoVar |