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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BST2_chr19_17397939_17410630 | 17402940 | C | A | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0015others(17): Show | 305 | 412 | 0.7403 | 0 | c.*40 others(4): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17402940 | C | T | splice_region_variant | LOW | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.*40 others(4): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17403329 | A | C | splice_region_variant others(1): Show |
LOW | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.*16 others(5): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17403822 | C | T | missense_variant others(1): Show |
MODERATE | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.416 others(3): Show |
p.Arg others(6): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4/5 | 471/1001 | 416/543 | 139/180 | chr19 | TogoVar | ||
BST2_chr19_17397939_17410630 | 17403823 | T | C | missense_variant others(1): Show |
MODERATE | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.415 others(3): Show |
p.Arg others(6): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4/5 | 470/1001 | 415/543 | 139/180 | chr19 | TogoVar | ||
BST2_chr19_17397939_17410630 | 17403824 | T | A | missense_variant others(1): Show |
MODERATE | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.414 others(3): Show |
p.Arg others(6): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4/5 | 469/1001 | 414/543 | 138/180 | chr19 | TogoVar | ||
BST2_chr19_17397939_17410630 | 17404197 | G | A | splice_region_variant others(1): Show |
LOW | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.353 others(5): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17404443 | A | C | splice_region_variant others(1): Show |
LOW | HG02015.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0031 | 1 | 412 | 0.0024 | 0 | c.286 others(5): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91942571 | C | G | splice_region_variant others(1): Show |
LOW | HG01081.hp2 HG02055.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0314a0001c0001t0004g0315a0001c0001t0004g0316others(8): Show | 11 | 330 | 0.0333 | 0 | c.400 others(5): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 4/37 | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91951399 | A | G | splice_region_variant others(1): Show |
LOW | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 330 | 0.0030 | 0 | c.401 others(5): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 4/37 | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92014035 | G | A | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01123.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196a0001c0001t0003g0197a0001c0001t0003g0198others(2): Show | 5 | 330 | 0.0152 | 0 | c.458 others(6): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 32/37 | chr10 | TogoVar | ||||||
BTBD10_chr11_13383008_13468222 | 13389143 | TGAAA | T | splice_region_variant others(1): Show |
LOW | HG00609.hp2 HG00733.hp1 HG00738.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0010others(24): Show | 32 | 356 | 0.0899 | -4 | c.111 others(17): Show |
BTBD10 | ENSG00000148925.11 | transcript | ENST00000278174.10 | protein_coding | 8/8 | chr11 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74359966 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 444 | 0.0023 | 0 | c.362 others(5): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74360251 | G | C | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02572.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0055others(1): Show | 7 | 444 | 0.0158 | 0 | c.86- others(4): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74360252 | C | T | splice_region_variant others(1): Show |
LOW | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 444 | 0.0023 | 0 | c.86- others(4): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74361729 | G | A | splice_region_variant others(1): Show |
LOW | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 444 | 0.0023 | 0 | c.85+ others(4): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
BTBD1_chr15_83011423_83072252 | 83056386 | T | C | splice_region_variant others(1): Show |
LOW | HG02698.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0046 | 2 | 328 | 0.0061 | 0 | c.558 others(5): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 2/7 | chr15 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1986823 | G | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 | a0005 | a0005c0032 | a0005c0032t0014 | a0005c0032t0014g0121 | 1 | 364 | 0.0028 | 0 | c.141 others(6): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 8/8 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1990826 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(81): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0037others(19): Show | a0001c0001t0023a0001c0003t0002a0001c0003t0006others(27): Show | a0001c0001t0023g0249a0001c0003t0002g0216a0001c0003t0002g0252others(77): Show | 84 | 364 | 0.2308 | 0 | c.685 others(5): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 1993014 | G | A | splice_region_variant others(1): Show |
LOW | HG02572.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0141 | 1 | 364 | 0.0028 | 0 | c.684 others(5): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
BTBD6_chr14_105243533_105256093 | 105249352 | C | T | splice_region_variant others(1): Show |
LOW | NA18982.hp1 NA19006.hp1 NA19086.hp1 |
a0001 | a0001c0003 | a0001c0003t0022a0001c0003t0023a0001c0003t0024 | a0001c0003t0022g0002a0001c0003t0023g0002a0001c0003t0024g0002 | 3 | 278 | 0.0108 | 0 | c.466 others(5): Show |
BTBD6 | ENSG00000184887.14 | transcript | ENST00000392554.8 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
BTBD6_chr14_105243533_105256093 | 105249633 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp1 HG02738.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0003 | 2 | 278 | 0.0072 | 0 | c.585 others(5): Show |
BTBD6 | ENSG00000184887.14 | transcript | ENST00000392554.8 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93243087 | C | T | missense_variant others(1): Show |
MODERATE | HG00642.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0266 | 1 | 375 | 0.0027 | 0 | c.258 others(4): Show |
p.Arg others(6): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 11/11 | 2908/8445 | 2585/3399 | 862/1132 | chr14 | TogoVar | ||
BTC_chr4_74739759_74799523 | 74748153 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00597.hp1 HG00639.hp1 others(55): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0003c0003t0005a0003c0003t0006others(7): Show | a0003c0003t0003g0007a0003c0003t0003g0022a0003c0003t0003g0032others(46): Show | 58 | 360 | 0.1611 | 0 | c.429 others(5): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
BTC_chr4_74739759_74799523 | 74750722 | A | G | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 360 | 0.0028 | 0 | c.282 others(5): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15641910 | T | C | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0001 | a0001c0009 | a0001c0009t0031 | a0001c0009t0031g0062 | 1 | 416 | 0.0024 | 0 | c.252 others(3): Show |
p.Asp others(5): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 3/4 | 418/9964 | 252/1572 | 84/523 | chr3 | TogoVar | ||
BTF3_chr5_73493442_73510667 | 73505187 | C | G | splice_region_variant others(1): Show |
LOW | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 408 | 0.0025 | 0 | c.575 others(5): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 5/5 | chr5 | TogoVar | ||||||
BTK_chrX_101344450_101391191 | 101370087 | G | A | splice_region_variant others(1): Show |
LOW | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 | 1 | 303 | 0.0033 | 0 | c.310 others(5): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 4/18 | chrX | TogoVar | ||||||
BTK_chrX_101344450_101391191 | 101375322 | T | C | splice_region_variant others(1): Show |
LOW | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0207 | 1 | 303 | 0.0033 | 0 | c.-30 others(5): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 1/18 | chrX | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26506838 | C | T | splice_region_variant others(1): Show |
LOW | HG01952.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0042 | 1 | 414 | 0.0024 | 0 | c.859 others(5): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26507969 | C | T | splice_region_variant others(1): Show |
LOW | NA18976.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0015 | 1 | 414 | 0.0024 | 0 | c.879 others(3): Show |
p.Leu others(6): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 6/8 | 992/2945 | 879/1581 | 293/526 | chr6 | TogoVar | ||
BTN2A1_chr6_26452955_26474637 | 26465936 | CTTTG | C | splice_region_variant others(1): Show |
LOW | HG01361.hp2 HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0036a0001c0002t0008g0045 | 3 | 420 | 0.0071 | -4 | c.935 others(15): Show |
BTN2A1 | ENSG00000112763.17 | transcript | ENST00000312541.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BTN2A2_chr6_26378108_26399874 | 26390211 | C | G | missense_variant others(1): Show |
MODERATE | NA20905.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0055 | 1 | 390 | 0.0026 | 0 | c.931 others(3): Show |
p.Gln others(6): Show |
BTN2A2 | ENSG00000124508.17 | transcript | ENST00000356709.9 | protein_coding | 5/8 | 1035/3583 | 931/1572 | 311/523 | chr6 | TogoVar | ||
BTN3A1_chr6_26397275_26420208 | 26405903 | C | T | splice_region_variant others(1): Show |
LOW | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 394 | 0.0025 | 0 | c.86- others(4): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
BTN3A1_chr6_26397275_26420208 | 26405904 | T | G | splice_region_variant others(1): Show |
LOW | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 394 | 0.0025 | 0 | c.86- others(4): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 2/9 | chr6 | TogoVar | ||||||
BTN3A1_chr6_26397275_26420208 | 26409920 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02080.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0002a0001c0016t0026 | a0001c0002t0002g0045a0001c0002t0002g0096a0001c0016t0026g0070 | 4 | 394 | 0.0102 | 0 | c.937 others(5): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 6/9 | chr6 | TogoVar | ||||||
BTN3A1_chr6_26397275_26420208 | 26409999 | G | A | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01069.hp2 HG01168.hp2 others(51): Show |
a0002a0003a0006others(1): Show | a0002c0004a0003c0005a0006c0008others(1): Show | a0002c0004t0004a0002c0004t0010a0002c0004t0021others(5): Show | a0002c0004t0004g0007a0002c0004t0004g0012a0002c0004t0004g0013others(23): Show | 54 | 394 | 0.1371 | 0 | c.938 others(5): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 6/9 | chr6 | TogoVar | ||||||
BTN3A1_chr6_26397275_26420208 | 26411103 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02258.hp2 HG03130.hp1 |
a0003 | a0003c0005 | a0003c0005t0013 | a0003c0005t0013g0048a0003c0005t0013g0104 | 3 | 394 | 0.0076 | 0 | c.965 others(5): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26365358 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.-67 others(5): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26372893 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.716 others(5): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 5/10 | chr6 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26374321 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00544.hp2 HG01069.hp2 others(33): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0019others(22): Show | 36 | 382 | 0.0942 | 0 | c.965 others(5): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTN3A3_chr6_26435504_26458415 | 26451676 | G | A | splice_region_variant others(1): Show |
LOW | NA19084.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0045 | 1 | 410 | 0.0024 | 0 | c.102 others(4): Show |
p.Ala others(6): Show |
BTN3A3 | ENSG00000111801.16 | transcript | ENST00000244519.7 | protein_coding | 11/11 | 1231/2970 | 1020/1755 | 340/584 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32394064 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00735.hp2 HG00738.hp2 others(54): Show |
a0003a0005a0009others(1): Show | a0003c0004a0003c0021a0005c0006others(2): Show | a0003c0004t0002a0003c0021t0002a0005c0006t0002others(2): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(34): Show | 57 | 453 | 0.1258 | 0 | c.136 others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
BTNL2_chr6_32388339_32412181 | 32394065 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00735.hp2 HG00738.hp2 others(54): Show |
a0003a0005a0009others(1): Show | a0003c0004a0003c0021a0005c0006others(2): Show | a0003c0004t0002a0003c0021t0002a0005c0006t0002others(2): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(34): Show | 57 | 453 | 0.1258 | 0 | c.136 others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32394744 | C | G | missense_variant others(1): Show |
MODERATE | HG00738.hp1 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0109 | 1 | 453 | 0.0022 | 0 | c.136 others(4): Show |
p.Glu others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32395025 | C | A | missense_variant others(1): Show |
MODERATE | NA19078.hp2 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0159 | 1 | 453 | 0.0022 | 0 | c.107 others(4): Show |
p.Ser others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1137/1564 | 1079/1449 | 360/482 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32396039 | T | C | missense_variant others(1): Show |
MODERATE | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(197): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0004a0003c0021others(7): Show | a0002c0002t0001a0003c0004t0002a0003c0021t0002others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0011a0002c0002t0001g0016others(86): Show | 200 | 453 | 0.4415 | 0 | c.107 others(4): Show |
p.Ser others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 5/8 | 1136/1564 | 1078/1449 | 360/482 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32401777 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00642.hp2 HG01081.hp2 others(47): Show |
a0004a0008 | a0004c0003a0008c0011 | a0004c0003t0003a0008c0011t0004 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(13): Show | 50 | 453 | 0.1104 | 0 | c.730 others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
BTNL2_chr6_32388339_32412181 | 32401785 | C | G | missense_variant others(1): Show |
MODERATE | HG02109.hp2 HG03209.hp2 |
a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0069 | 2 | 453 | 0.0044 | 0 | c.730 others(3): Show |
p.Ala others(6): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/8 | 788/1564 | 730/1449 | 244/482 | chr6 | TogoVar |