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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BANP_chr16_87946434_88082316 | 87973764 | A | AAGAAAG | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0007a0001c0014 | a0001c0007t0001a0001c0014t0001 | a0001c0007t0001g0093a0001c0007t0001g0094a0001c0007t0001g0116others(6): Show | 9 | 352 | 0.0256 | 6 | c.-68 others(23): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 87973768 | A | AAGAAAG | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG02145.hp2 others(16): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0009others(6): Show | a0001c0007t0005a0001c0008t0001a0001c0009t0005others(6): Show | a0001c0007t0005g0088a0001c0007t0005g0089a0001c0007t0005g0108others(16): Show | 19 | 352 | 0.0540 | 6 | c.-68 others(23): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 87976474 | G | GTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0012others(2): Show | a0001c0007t0005a0001c0008t0001a0001c0012t0001others(2): Show | a0001c0007t0005g0112a0001c0007t0005g0113a0001c0008t0001g0109others(11): Show | 14 | 352 | 0.0398 | 6 | c.70+ others(21): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 87987712 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0237a0001c0001t0001g0262a0001c0001t0002g0181others(5): Show | 8 | 352 | 0.0227 | 6 | c.362 others(23): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88053962 | G | GCCACTC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0002g0181a0001c0002t0001g0047a0001c0002t0002g0004others(115): Show | 120 | 352 | 0.3409 | 6 | c.131 others(27): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88079527 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp2 others(81): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(6): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(11): Show | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0009others(79): Show | 84 | 352 | 0.2386 | 6 | c.*28 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2212 | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88080487 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(18): Show |
a0001 | a0001c0004a0001c0011 | a0001c0004t0004a0001c0004t0012a0001c0011t0001 | a0001c0004t0004g0061a0001c0004t0004g0062a0001c0004t0004g0125others(18): Show | 21 | 352 | 0.0597 | 6 | c.*38 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 3172 | chr16 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214723984 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01257.hp2 HG01258.hp1 others(5): Show |
a0004a0013 | a0004c0007a0004c0010a0013c0017 | a0004c0007t0008a0004c0010t0008a0004c0010t0030others(1): Show | a0004c0007t0008g0037a0004c0007t0008g0039a0004c0007t0008g0126others(4): Show | 8 | 362 | 0.0221 | 6 | c.*46 others(17): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 1661 | chr2 | TogoVar | ||||||
BARHL1_chr9_132577606_132595252 | 132577646 | A | AAAAAAC | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02895.hp2 HG03688.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0003a0001c0001t0002g0007others(1): Show | 8 | 472 | 0.0170 | 6 | c.-51 others(17): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 4959 | chr9 | TogoVar | ||||||
BARHL1_chr9_132577606_132595252 | 132581538 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00544.hp1 NA18960.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062a0001c0001t0002g0010 | 3 | 472 | 0.0064 | 6 | c.-12 others(17): Show |
BARHL1 | ENSG00000125492.11 | transcript | ENST00000263610.7 | protein_coding | 1067 | chr9 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90717524 | C | CAGGCGA | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0058others(3): Show | 8 | 446 | 0.0179 | 6 | c.-33 others(15): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 223 | chr1 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18970.hp1 NA18970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0034others(4): Show | 7 | 446 | 0.0157 | 6 | c.-23 others(17): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | ||||||
BARX2_chr11_129370848_129457279 | 129454425 | A | ACTTTGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(149): Show | 160 | 400 | 0.4000 | 6 | c.*30 others(17): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 2147 | chr11 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17212996 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0123a0001c0001t0001g0188others(21): Show | 24 | 370 | 0.0649 | 6 | c.-48 others(17): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 4634 | chr5 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17217065 | A | AGAGAGT | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03041.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0244a0001c0001t0004g0021a0001c0001t0010g0241others(3): Show | 6 | 370 | 0.0162 | 6 | c.-75 others(15): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 565 | chr5 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17217071 | T | TGTGAGA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01891.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0045 | a0001c0001t0003g0058a0001c0001t0010g0051a0001c0001t0010g0055others(3): Show | 6 | 370 | 0.0162 | 6 | c.-74 others(15): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 559 | chr5 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64987709 | T | TCACACA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0045a0001c0001t0004g0013a0001c0001t0004g0085others(2): Show | 11 | 404 | 0.0272 | 6 | c.*14 others(17): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 235 | chr11 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0084a0001c0001t0001g0144others(3): Show | 6 | 462 | 0.0130 | 6 | c.*53 others(17): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212696423 | G | GGTGTGT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0081others(3): Show | 8 | 462 | 0.0173 | 6 | c.195 others(21): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212699677 | T | TGCTGCG | conservative_inframe_insertion | MODERATE | HG02895.hp1 HG02897.hp1 HG03041.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0070a0003c0004t0001g0239 | 3 | 462 | 0.0065 | 6 | c.80_ others(11): Show |
p.Pro others(11): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 1/3 | 163/836 | 85/384 | 29/127 | chr1 | TogoVar | ||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0013others(77): Show | 105 | 376 | 0.2793 | 6 | c.169 others(23): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BAX_chr19_48949875_48966798 | 48953836 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00733.hp2 others(53): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(36): Show | 56 | 418 | 0.1340 | 6 | c.-10 others(17): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 1038 | chr19 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48954325 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0089a0001c0001t0001g0105others(3): Show | 6 | 418 | 0.0144 | 6 | c.-60 others(15): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 549 | chr19 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | C | CCAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0001a0001c0003t0005g0193a0001c0003t0005g0369others(7): Show | 10 | 380 | 0.0263 | 6 | c.183 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34786603 | G | GTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0005 | a0001c0002t0002g0063a0001c0003t0005g0005a0001c0003t0005g0008others(5): Show | 8 | 380 | 0.0211 | 6 | c.151 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 12/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34796165 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00642.hp2 others(75): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0102a0001c0002t0001g0124a0001c0002t0001g0125others(75): Show | 78 | 380 | 0.2053 | 6 | c.112 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 9/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34832191 | T | TACACAC | intron_variant | MODIFIER | HG02723.hp1 HG02897.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326a0001c0001t0001g0332a0001c0001t0001g0333 | 3 | 380 | 0.0079 | 6 | c.393 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34839839 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0012others(1): Show | a0001c0003t0005a0001c0004t0004a0001c0012t0004others(1): Show | a0001c0003t0005g0004a0001c0003t0005g0005a0001c0003t0005g0006others(45): Show | 48 | 380 | 0.1263 | 6 | c.393 others(25): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34872913 | T | TAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02135.hp1 HG03490.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0005 | a0001c0002t0003g0183a0001c0002t0003g0184a0001c0002t0003g0185others(6): Show | 9 | 380 | 0.0237 | 6 | c.113 others(23): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34873589 | G | GCTGAGT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01106.hp2 others(18): Show |
a0001a0003 | a0001c0004a0003c0014 | a0001c0004t0004a0003c0014t0004 | a0001c0004t0004g0340a0001c0004t0004g0341a0001c0004t0004g0342others(18): Show | 21 | 380 | 0.0553 | 6 | c.113 others(21): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0301a0001c0001t0001g0308a0001c0001t0001g0311others(8): Show | 11 | 380 | 0.0290 | 6 | c.-21 others(17): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACAC | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01106.hp1 others(11): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0009a0001c0001t0054a0001c0002t0057others(3): Show | a0001c0001t0009g0007a0001c0001t0009g0116a0001c0001t0009g0170others(9): Show | 14 | 316 | 0.0443 | 6 | c.*97 others(15): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | |||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG02615.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0006a0006c0016 | a0001c0001t0001a0001c0001t0002a0006c0006t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0002g0148a0006c0006t0001g0007others(2): Show | 5 | 216 | 0.0232 | 6 | c.400 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159434151 | A | AATTATT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01192.hp1 others(8): Show |
a0003a0021 | a0003c0003a0003c0013a0021c0012 | a0003c0003t0001a0003c0003t0002a0003c0013t0006others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0014a0003c0003t0001g0056others(8): Show | 11 | 216 | 0.0509 | 6 | c.129 others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 8/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159542636 | C | CTAAAAA | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0162a0001c0001t0005g0130a0001c0001t0008g0131others(1): Show | 4 | 216 | 0.0185 | 6 | c.-3+ others(23): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159553392 | C | CAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG02717.hp2 HG03654.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0002c0007a0006c0006others(1): Show | a0001c0001t0002a0002c0007t0002a0006c0006t0002others(1): Show | a0001c0001t0002g0134a0001c0001t0002g0144a0002c0007t0002g0135others(2): Show | 5 | 216 | 0.0232 | 6 | c.-3+ others(21): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159604932 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01168.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0033a0001c0001t0001g0101others(26): Show | 29 | 216 | 0.1343 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159604951 | T | TGTGCGC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(28): Show | 31 | 216 | 0.1435 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159604951 | T | TGTGTGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0029others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(17): Show | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0030others(61): Show | 64 | 216 | 0.2963 | 6 | c.-46 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47217194 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02080.hp1 HG03471.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0087a0001c0001t0001g0172others(7): Show | 10 | 412 | 0.0243 | 6 | c.*46 others(17): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3629 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47226327 | T | TCCCTGG | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0177 | 4 | 412 | 0.0097 | 6 | c.465 others(21): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47231146 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0006g0018a0001c0001t0006g0021a0001c0001t0006g0022others(29): Show | 53 | 412 | 0.1286 | 6 | c.-23 others(15): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/4 | 2716 | chr19 | TogoVar | |||||
BBLN_chr9_128155265_128168924 | 128155573 | G | GCCCCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(9): Show | 82 | 396 | 0.2071 | 6 | c.-48 others(17): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4691 | chr9 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128155578 | C | CCCCCCG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(3): Show | 63 | 396 | 0.1591 | 6 | c.-48 others(17): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4686 | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74028467 | T | TACACAC | intron_variant | MODIFIER | HG02486.hp2 HG03831.hp2 HG03942.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0003a0006c0005t0016 | a0001c0001t0003g0152a0001c0001t0003g0158a0001c0001t0003g0181others(1): Show | 4 | 386 | 0.0104 | 6 | c.286 others(21): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74042879 | G | GACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(37): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0004c0004t0004 | a0002c0002t0001g0202a0003c0003t0001g0042a0003c0003t0001g0065others(36): Show | 40 | 386 | 0.1036 | 6 | c.576 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74070668 | T | TTGACGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(274): Show |
a0000a0001a0003others(8): Show | a0000c0018a0001c0001a0003c0003others(11): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(21): Show | a0000c0018t0003g0175a0001c0001t0002g0003a0001c0001t0002g0292others(272): Show | 277 | 386 | 0.7176 | 6 | c.*59 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4577 | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27038522 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(55): Show | 61 | 318 | 0.1918 | 6 | c.-28 others(17): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2292 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27046439 | G | GACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(36): Show | 45 | 318 | 0.1415 | 6 | c.-39 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGC | intron_variant | MODIFIER | NA18949.hp2 NA18990.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105 | 3 | 318 | 0.0094 | 6 | c.-38 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |