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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0281 | 1 | 97 | 0.0103 | 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 | a0001c0001t0001g0086 a0001c0001t0001g0196 a0001c0001t0001g0213 |
3 | 99 | 0.0303 | 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 | 97 | 0.0103 | 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 | a0001c0001t0044a0001c0001t0048 | a0001c0001t0044g0103 a0001c0001t0048g0085 |
2 | 166 | 0.0120 | 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 | a0001c0001t0010 | a0001c0001t0010g0070 a0001c0001t0010g0071 |
2 | 130 | 0.0154 | 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 | a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0162 others(20): Show |
23 | 34 | 0.6765 | 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 | a0001c0001t0003g0021 | 1 | 136 | 0.0074 | 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 | a0001c0001t0050g0018 a0001c0002t0002g0069 |
2 | 137 | 0.0146 | 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 | a0001c0001t0063g0077 a0001c0002t0029g0057 a0001c0002t0029g0175 |
3 | 174 | 0.0172 | 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 | a0001c0001t0024a0001c0001t0049 | a0001c0001t0024g0018 a0001c0001t0049g0067 |
2 | 130 | 0.0154 | 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 | a0001c0006t0009a0001c0008t0005 | a0001c0006t0009g0121 a0001c0008t0005g0290 |
2 | 177 | 0.0113 | 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 | a0004c0011t0005 | a0004c0011t0005g0206 | 1 | 176 | 0.0057 | 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 | a0001c0001t0004g0017 | 1 | 228 | 0.0044 | 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 | 284 | 0.0035 | 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 | a0001c0001t0001g0071 | 1 | 372 | 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 |
a0004a0022 | a0004c0004a0022c0028 | a0004c0004t0003a0022c0028t0003 | a0004c0004t0003g0006 a0022c0028t0003g0006 |
2 | 48 | 0.0417 | 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 | a0002c0002t0002g0187 a0002c0002t0002g0192 a0002c0027t0002g0197 |
3 | 101 | 0.0297 | 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 | a0001c0001t0001g0234 | 1 | 67 | 0.0149 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(5): Show |
9 | 249 | 0.0361 | 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 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0003t0001g0019 others(2): Show |
5 | 343 | 0.0146 | 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 | a0003c0003t0002g0140 a0003c0003t0002g0145 a0003c0003t0002g0156 others(3): Show |
6 | 160 | 0.0375 | 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 | 70 | 0.0143 | 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 | 70 | 0.0143 | 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 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 27 | 0.2963 | 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 | 131 | 0.0076 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0030 |
2 | 132 | 0.0152 | 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 | a0001c0001t0001g0003 | 2 | 132 | 0.0152 | 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 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(3): Show |
7 | 137 | 0.0511 | 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 | a0001c0001t0001g0085 | 1 | 131 | 0.0076 | 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 |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0022 others(50): Show |
54 | 104 | 0.5192 | 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 | a0001c0001t0003g0269 a0001c0001t0004g0291 |
2 | 73 | 0.0274 | 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 | a0001c0001t0015g0262 a0001c0001t0015g0263 a0001c0001t0015g0285 others(2): Show |
5 | 336 | 0.0149 | 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 | a0001c0001t0070 | a0001c0001t0070g0167 | 1 | 263 | 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 | a0001c0001t0198 | a0001c0001t0198g0012 | 1 | 278 | 0.0036 | 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 | a0001c0001t0002g0109 a0001c0001t0002g0130 a0001c0001t0002g0132 others(24): Show |
27 | 34 | 0.7941 | 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 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0146 a0001c0001t0029g0120 |
2 | 182 | 0.0110 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show |
21 | 46 | 0.4565 | 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 | 419 | 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 | a0001c0001t0087 | a0001c0001t0087g0003 | 1 | 266 | 0.0038 | 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 | a0001c0001t0029 | a0001c0001t0029g0007 | 2 | 305 | 0.0066 | 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 | 432 | 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 | a0003c0006t0004g0139 | 1 | 195 | 0.0051 | 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 | a0003c0006t0001g0141 | 1 | 195 | 0.0051 | 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 | a0001c0001t0118 | a0001c0001t0118g0096 | 1 | 185 | 0.0054 | 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 | a0001c0001t0001a0001c0001t0015a0001c0001t0082others(2): Show | a0001c0001t0001g0006 a0001c0001t0015g0178 a0001c0001t0082g0083 others(2): Show |
5 | 104 | 0.0481 | 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 | a0002c0002t0003g0187 | 1 | 342 | 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 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0173 a0001c0001t0002g0214 a0001c0001t0004g0165 others(8): Show |
11 | 12 | 0.9167 | 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 | 8 | 0.1250 | 25 | c.157 others(42): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101456018 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 259 | 0.0039 | 25 | c.157 others(42): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101472275 | C | CTCTCTTC others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01123.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 others(21): Show |
24 | 72 | 0.3333 | 25 | c.235 others(42): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |