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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPHL_chr6_3113711_3158578 | 3135685 | CGTG | C | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0236 a0001c0001t0002g0237 others(1): Show |
4 | 350 | 0.0114 | -3 | c.533 others(20): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BPIFA2_chr20_33163159_33186412 | 33168138 | GCCA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(97): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0036 others(10): Show |
100 | 378 | 0.2646 | -3 | c.-86 others(10): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 20 | chr20 | TogoVar | |||||||
BPIFA2_chr20_33163159_33186412 | 33176055 | CAAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show |
a0003 | a0003c0006a0003c0007a0003c0009 | a0003c0006t0001a0003c0006t0002a0003c0007t0001others(1): Show | a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 others(5): Show |
9 | 378 | 0.0238 | -3 | c.563 others(18): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33216174 | CTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02280.hp1 others(27): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0017 | a0001c0001t0002a0002c0002t0002a0010c0017t0001 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(5): Show |
30 | 416 | 0.0721 | -3 | c.-13 others(14): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1177 | chr20 | TogoVar | |||||||
BPIFA3_chr20_33212352_33232806 | 33218002 | CAGT | C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0047 others(1): Show |
5 | 416 | 0.0120 | -3 | c.127 others(18): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFA3_chr20_33212352_33232806 | 33221149 | ATTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02145.hp2 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0119 a0001c0001t0001g0120 others(15): Show |
38 | 416 | 0.0914 | -3 | c.128 others(20): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB2_chr20_33002704_33028703 | 33008305 | TTTC | T | intron_variant | MODIFIER | HG02683.hp2 NA18949.hp1 NA18966.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0006 | a0001c0002t0001g0008 a0001c0002t0001g0050 a0001c0002t0001g0051 others(3): Show |
13 | 388 | 0.0335 | -3 | c.-34 others(18): Show |
BPIFB2 | ENSG00000078898.7 | transcript | ENST00000170150.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33056329 | CCCA | C | intron_variant | MODIFIER | NA18941.hp1 NA18979.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0149 |
3 | 374 | 0.0080 | -3 | c.113 others(18): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33109291 | TTCA | T | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01496.hp2 others(16): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0004a0005c0006others(2): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0003others(3): Show | a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0186 others(14): Show |
19 | 344 | 0.0552 | -3 | c.182 others(22): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFB6_chr20_33026648_33049047 | 33040985 | CTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02809.hp1 others(8): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0059 a0006c0006t0001g0006 a0006c0006t0001g0033 |
11 | 384 | 0.0287 | -3 | c.114 others(20): Show |
BPIFB6 | ENSG00000167104.11 | transcript | ENST00000349552.1 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32409820 | TTTG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0039 others(112): Show |
116 | 422 | 0.2749 | -3 | c.*44 others(14): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4024 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32419822 | AAAC | A | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02572.hp1 others(4): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0001a0003c0003t0002a0008c0008t0001 | a0003c0003t0001g0024 a0003c0003t0001g0129 a0003c0003t0001g0307 others(4): Show |
7 | 422 | 0.0166 | -3 | c.121 others(20): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32420333 | AAAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02080.hp1 HG02622.hp2 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(3): Show | a0001c0001t0001g0415 a0001c0001t0002g0039 a0001c0001t0002g0040 others(8): Show |
11 | 422 | 0.0261 | -3 | c.121 others(20): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424600 | TCTC | T | intron_variant | MODIFIER | HG00741.hp1 HG01358.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0002 | a0001c0001t0003g0199 a0002c0002t0001g0351 a0002c0002t0002g0064 others(2): Show |
5 | 422 | 0.0119 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424642 | CTCT | C | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp2 HG03540.hp1 others(6): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0003others(2): Show | a0002c0002t0001g0090 a0002c0002t0002g0109 a0002c0002t0002g0265 others(6): Show |
9 | 422 | 0.0213 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424690 | TTCC | T | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01358.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0411 a0002c0002t0001g0245 a0002c0002t0001g0351 others(5): Show |
8 | 422 | 0.0190 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424750 | TTCC | T | intron_variant | MODIFIER | HG01256.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0004 a0006c0006t0001g0154 a0006c0006t0001g0194 |
4 | 422 | 0.0095 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424753 | CTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 others(24): Show |
27 | 422 | 0.0640 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32426901 | AAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0050 others(116): Show |
120 | 422 | 0.2844 | -3 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32436340 | AGAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01081.hp2 others(7): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0014 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0161 a0001c0001t0001g0406 others(7): Show |
10 | 422 | 0.0237 | -3 | c.748 others(18): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32436346 | AGAG | A | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01192.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0019t0001others(5): Show | a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0135 others(15): Show |
18 | 422 | 0.0427 | -3 | c.748 others(18): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32436376 | GGAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(188): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0051 others(188): Show |
191 | 422 | 0.4526 | -3 | c.748 others(18): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 9/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32440364 | ACTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(66): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0092 a0001c0001t0001g0165 a0001c0001t0001g0166 others(66): Show |
69 | 422 | 0.1635 | -3 | c.655 others(20): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 8/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32452637 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(154): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0019a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0097 others(152): Show |
157 | 422 | 0.3720 | -3 | c.245 others(18): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32469100 | TAAA | T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0013 | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0415 a0003c0003t0001g0023 a0003c0003t0001g0024 others(3): Show |
6 | 422 | 0.0142 | -3 | c.-48 others(14): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 4655 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38302460 | CAAT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(77): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0025others(17): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(24): Show | a0001c0001t0001g0298 a0001c0001t0002g0221 a0002c0002t0001g0020 others(71): Show |
80 | 426 | 0.1878 | -3 | c.-17 others(14): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 1695 | chr20 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38313383 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(112): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0055a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0244 others(79): Show |
115 | 426 | 0.2700 | -3 | c.600 others(20): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38314122 | AGAT | A | intron_variant | MODIFIER | NA18953.hp2 NA18964.hp2 NA19011.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0341 a0001c0001t0002g0343 |
5 | 426 | 0.0117 | -3 | c.600 others(20): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPI_chr20_38299156_38342505 | 38318684 | ATAC | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00733.hp1 others(30): Show |
a0005a0007a0009others(7): Show | a0005c0018a0007c0007a0009c0051others(7): Show | a0005c0018t0001a0007c0007t0001a0007c0007t0002others(8): Show | a0005c0018t0001g0152 a0005c0018t0001g0233 a0005c0018t0001g0262 others(26): Show |
33 | 426 | 0.0775 | -3 | c.664 others(18): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPNT1_chr1_220052482_220094788 | 220073659 | AAAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0162 others(1): Show |
4 | 424 | 0.0094 | -3 | c.225 others(18): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220076701 | TTAA | T | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 others(4): Show |
7 | 424 | 0.0165 | -3 | c.121 others(20): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220088478 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG02027.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0064 others(18): Show |
22 | 424 | 0.0519 | -3 | c.-9+ others(18): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220089137 | AAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(52): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(42): Show |
55 | 424 | 0.1297 | -3 | c.-9+ others(16): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220090287 | CTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0241 others(22): Show |
27 | 424 | 0.0637 | -3 | c.-61 others(12): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 500 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220093896 | TAAA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(30): Show |
35 | 424 | 0.0826 | -3 | c.-42 others(14): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 4109 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220093907 | AAAT | A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0260 a0001c0001t0001g0377 a0001c0001t0004g0246 others(8): Show |
13 | 424 | 0.0307 | -3 | c.-42 others(14): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 4120 | chr1 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220093909 | ATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(44): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(36): Show |
47 | 424 | 0.1109 | -3 | c.-42 others(14): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 4122 | chr1 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56959667 | AGAT | A | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02559.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0174 a0001c0001t0006g0181 a0001c0001t0006g0184 others(2): Show |
5 | 356 | 0.0140 | -3 | c.*41 others(14): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 5/5 | 4123 | chr8 | TogoVar | ||||||
BPNT2_chr8_56952931_56998867 | 56963286 | TACA | T | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0174 a0001c0001t0006g0181 a0001c0001t0006g0184 others(3): Show |
7 | 356 | 0.0197 | -3 | c.*50 others(12): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 5/5 | 504 | chr8 | TogoVar | ||||||
BPNT2_chr8_56952931_56998867 | 56977625 | GTAC | G | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01192.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0077 others(13): Show |
18 | 356 | 0.0506 | -3 | c.646 others(18): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 3/4 | chr8 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56984805 | TATC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(59): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0029others(3): Show | a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0009 others(34): Show |
62 | 356 | 0.1742 | -3 | c.388 others(20): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67829112 | TTTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0005t0005a0002c0002t0002others(8): Show | a0001c0001t0001g0260 a0001c0005t0005g0099 a0001c0005t0005g0100 others(95): Show |
98 | 274 | 0.3577 | -3 | c.613 others(20): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67840104 | ATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00639.hp1 others(98): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0001t0001g0260 a0001c0003t0002g0087 a0001c0003t0002g0088 others(98): Show |
101 | 274 | 0.3686 | -3 | c.613 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67840458 | CTTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(94): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0005t0005a0002c0002t0002others(7): Show | a0001c0001t0001g0260 a0001c0005t0005g0099 a0001c0005t0005g0100 others(94): Show |
97 | 274 | 0.3540 | -3 | c.614 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67841834 | TTTA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0165 a0003c0004t0004g0166 a0003c0004t0004g0167 others(9): Show |
12 | 274 | 0.0438 | -3 | c.614 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67857782 | CTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(23): Show |
a0001a0003 | a0001c0003a0001c0009a0003c0004others(1): Show | a0001c0003t0002a0001c0003t0003a0001c0009t0003others(2): Show | a0001c0003t0002g0088 a0001c0003t0003g0084 a0001c0003t0003g0086 others(23): Show |
26 | 274 | 0.0949 | -3 | c.143 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67879151 | TTTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(92): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0005t0005a0002c0002t0002others(7): Show | a0001c0001t0001g0260 a0001c0005t0005g0099 a0001c0005t0005g0100 others(92): Show |
95 | 274 | 0.3467 | -3 | c.186 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67881491 | GTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(117): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0005a0001c0016others(10): Show | a0001c0001t0001a0001c0005t0005a0001c0016t0001others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0048 others(117): Show |
120 | 274 | 0.4380 | -3 | c.186 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67881855 | TTTG | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(43): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0027others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0001c0001t0001g0260 a0002c0002t0002g0181 a0002c0002t0002g0186 others(43): Show |
46 | 274 | 0.1679 | -3 | c.186 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67895332 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(23): Show |
a0001a0003a0008 | a0001c0003a0001c0009a0003c0004others(1): Show | a0001c0003t0002a0001c0003t0003a0001c0009t0003others(2): Show | a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0084 others(23): Show |
26 | 274 | 0.0949 | -3 | c.254 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |