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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BANK1_chr4_101785730_102079812 | 102005330 | TATAAA | T | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG06807.hp1 |
a0006a0010 | a0006c0013a0010c0015 | a0006c0013t0003a0006c0013t0004a0010c0015t0003 | a0006c0013t0003g0142a0006c0013t0004g0143a0010c0015t0003g0270 | 3 | 284 | 0.0106 | -5 | c.120 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 102007147 | TATATA | T | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005 | a0001c0002t0001g0174a0001c0002t0001g0177a0001c0002t0001g0180others(8): Show | 11 | 284 | 0.0387 | -5 | c.120 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87948974 | CAAACA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0091a0001c0001t0001g0174a0001c0001t0001g0175others(126): Show | 130 | 352 | 0.3693 | -5 | c.-26 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2459 | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87986566 | TTAAGA | T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00639.hp2 others(58): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0010others(8): Show | a0001c0004t0004a0001c0004t0012a0001c0007t0001others(11): Show | a0001c0004t0004g0060a0001c0004t0004g0061a0001c0004t0004g0062others(58): Show | 61 | 352 | 0.1733 | -5 | c.362 others(22): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88033903 | AGGAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02970.hp2 HG03516.hp2 |
a0001 | a0001c0020a0001c0030 | a0001c0020t0007a0001c0030t0001 | a0001c0020t0007g0141a0001c0020t0007g0147a0001c0030t0001g0084 | 3 | 352 | 0.0085 | -5 | c.120 others(22): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88056457 | CTCTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0181a0001c0002t0001g0047a0001c0002t0002g0004others(75): Show | 80 | 352 | 0.2273 | -5 | c.131 others(24): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88079527 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0008a0001c0031 | a0001c0008t0001a0001c0008t0004a0001c0031t0001 | a0001c0008t0001g0163a0001c0008t0001g0164a0001c0008t0001g0165others(3): Show | 6 | 352 | 0.0171 | -5 | c.*28 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2212 | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88079834 | TTTTTG | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00642.hp2 others(47): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(1): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(3): Show | a0001c0002t0002g0006a0001c0002t0002g0009a0001c0002t0002g0012others(45): Show | 50 | 352 | 0.1421 | -5 | c.*31 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2519 | chr16 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214725781 | TAAGAC | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(58): Show |
a0001a0002a0007 | a0001c0002a0001c0003a0001c0021others(3): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0019others(9): Show | a0001c0002t0003g0002a0001c0002t0003g0018a0001c0002t0003g0020others(54): Show | 61 | 362 | 0.1685 | -5 | c.*28 others(16): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 11/11 | 2890 | chr2 | TogoVar | |||||
BARD1_chr2_214720646_214814683 | 214773927 | CTGTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02257.hp2 others(5): Show |
a0001a0007 | a0001c0004a0007c0018 | a0001c0004t0017a0001c0004t0033a0007c0018t0010 | a0001c0004t0017g0231a0001c0004t0017g0232a0001c0004t0017g0238others(5): Show | 8 | 362 | 0.0221 | -5 | c.131 others(24): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214804210 | CAAGTA | C | intron_variant | MODIFIER | NA18945.hp1 NA19000.hp1 NA19055.hp2 |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0001a0002c0001t0045a0006c0008t0029 | a0002c0001t0001g0129a0002c0001t0045g0130a0006c0008t0029g0210 | 3 | 362 | 0.0083 | -5 | c.158 others(22): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0016others(15): Show | 82 | 446 | 0.1839 | -5 | c.-23 others(16): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | ||||||
BARX2_chr11_129370848_129457279 | 129424562 | GGCACT | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(139): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(131): Show | 142 | 400 | 0.3550 | -5 | c.188 others(24): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BARX2_chr11_129370848_129457279 | 129434421 | TAAAAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0173others(44): Show | 47 | 400 | 0.1175 | -5 | c.188 others(22): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BASP1_chr5_17212631_17281834 | 17255746 | ATGCAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0073others(102): Show | 110 | 370 | 0.2973 | -5 | c.-9- others(22): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17272504 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0016a0001c0001t0001g0065a0001c0001t0001g0073others(133): Show | 140 | 370 | 0.3784 | -5 | c.-9- others(20): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BATF2_chr11_64982945_65001971 | 64983473 | CATTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(73): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(18): Show | 76 | 404 | 0.1881 | -5 | c.*56 others(16): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4471 | chr11 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64983560 | ATATTT | A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00733.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(10): Show | 50 | 404 | 0.1238 | -5 | c.*55 others(16): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4384 | chr11 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64987343 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0085a0001c0001t0004g0086 | 8 | 404 | 0.0198 | -5 | c.*17 others(16): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 601 | chr11 | TogoVar | ||||||
BATF_chr14_75517469_75551992 | 75536722 | TTAAAA | T | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0182 | 4 | 376 | 0.0106 | -5 | c.169 others(22): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BAX_chr19_48949875_48966798 | 48952004 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0059a0001c0001t0001g0177others(10): Show | 15 | 418 | 0.0359 | -5 | c.-29 others(16): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 2870 | chr19 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48956819 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01261.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0038others(26): Show | 42 | 418 | 0.1005 | -5 | c.369 others(20): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BAZ1A_chr14_34747731_34880360 | 34759171 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0102a0001c0002t0001g0124a0001c0002t0001g0125others(67): Show | 70 | 380 | 0.1842 | -5 | c.424 others(22): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34781240 | ACTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01257.hp1 others(4): Show |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0007 | a0002c0006t0002g0051a0002c0006t0002g0052a0002c0006t0002g0053others(4): Show | 7 | 380 | 0.0184 | -5 | c.211 others(22): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 16/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34823779 | CTTGAA | C | intron_variant | MODIFIER | NA18940.hp1 NA18965.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094a0001c0002t0002g0115a0001c0002t0002g0128 | 3 | 380 | 0.0079 | -5 | c.536 others(22): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34825447 | CAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01243.hp2 HG02071.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0073a0001c0002t0002g0074a0001c0002t0002g0082others(8): Show | 11 | 380 | 0.0290 | -5 | c.536 others(20): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34829267 | GAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(71): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0124a0001c0002t0001g0125a0001c0002t0002g0058others(71): Show | 74 | 380 | 0.1947 | -5 | c.393 others(22): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34845859 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(167): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0102a0001c0002t0001g0124a0001c0002t0001g0125others(167): Show | 170 | 380 | 0.4474 | -5 | c.392 others(24): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00738.hp2 others(51): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0102a0001c0002t0001g0124a0001c0002t0001g0125others(51): Show | 54 | 380 | 0.1421 | -5 | c.-21 others(16): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73491602 | AAAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197a0001c0003t0006g0198a0001c0003t0006g0199 | 3 | 200 | 0.0150 | -5 | c.693 others(22): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 5/19 | chr7 | TogoVar | ||||||
BAZ1B_chr7_73435406_73527293 | 73526869 | ATATAT | A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193a0001c0001t0003g0194a0001c0001t0003g0195 | 3 | 200 | 0.0150 | -5 | c.-49 others(16): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4577 | chr7 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159317000 | CAATAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0001c0023others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0015others(137): Show | 140 | 216 | 0.6482 | -5 | c.*32 others(16): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1978 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159455238 | ATCTCT | A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0019c0017 | a0001c0001t0001a0002c0002t0001a0019c0017t0001 | a0001c0001t0001g0104a0002c0002t0001g0048a0002c0002t0001g0050others(3): Show | 6 | 216 | 0.0278 | -5 | c.146 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159496783 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0029a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0029t0001others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0120a0001c0001t0001g0121others(10): Show | 13 | 216 | 0.0602 | -5 | c.-2- others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | CTTTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG01361.hp2 HG02717.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0002a0002c0002t0002a0002c0007t0002others(2): Show | a0001c0001t0002g0133a0001c0001t0002g0134a0001c0001t0002g0144others(4): Show | 7 | 216 | 0.0324 | -5 | c.-3+ others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159548626 | TATCAA | T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02717.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0005a0001c0001t0008a0004c0009t0001 | a0001c0001t0005g0130a0001c0001t0008g0131a0004c0009t0001g0010 | 3 | 216 | 0.0139 | -5 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159551466 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00673.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0064a0001c0001t0001g0078a0001c0001t0002g0205others(18): Show | 21 | 216 | 0.0972 | -5 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159567009 | TGAGGC | T | intron_variant | MODIFIER | HG01361.hp2 HG03654.hp1 HG03834.hp1 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0002c0002t0002a0006c0006t0002 | a0001c0001t0002g0144a0002c0002t0002g0143a0006c0006t0002g0145 | 3 | 216 | 0.0139 | -5 | c.-45 others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01934.hp1 others(11): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0029a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0029t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(11): Show | 14 | 216 | 0.0648 | -5 | c.-46 others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47235234 | AAAAAC | A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02647.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0002g0100a0001c0001t0003g0099others(2): Show | 5 | 412 | 0.0121 | -5 | c.-43 others(16): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 4036 | chr19 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74062051 | GAAAAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
a0006 | a0006c0005 | a0006c0005t0003a0006c0005t0005a0006c0005t0016 | a0006c0005t0003g0374a0006c0005t0003g0375a0006c0005t0005g0369others(5): Show | 8 | 386 | 0.0207 | -5 | c.157 others(24): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27057064 | TAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002a0001c0003t0001g0023a0001c0003t0001g0044others(2): Show | 7 | 318 | 0.0220 | -5 | c.220 others(20): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27063945 | ATTTGG | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01934.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0112a0001c0001t0001g0116others(27): Show | 32 | 318 | 0.1006 | -5 | c.334 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27066222 | TTTTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0001t0003g0241a0001c0001t0003g0242a0001c0001t0003g0243others(3): Show | 7 | 318 | 0.0220 | -5 | c.334 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27066546 | CGTTAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(173): Show | 189 | 318 | 0.5943 | -5 | c.334 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27114723 | CTCATA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(125): Show | 135 | 318 | 0.4245 | -5 | c.534 others(20): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27128036 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(144): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 147 | 318 | 0.4623 | -5 | c.*58 others(14): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 228 | chr11 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122733859 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG02965.hp1 HG02965.hp2 others(7): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0013 | a0001c0001t0001a0004c0004t0001a0010c0013t0005 | a0001c0001t0001g0020a0001c0001t0001g0069a0001c0001t0001g0075others(2): Show | 10 | 364 | 0.0275 | -5 | c.-11 others(20): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BBS1_chr11_66505635_66538598 | 66534676 | ATTTAT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0131a0001c0001t0002g0137others(6): Show | 12 | 386 | 0.0311 | -5 | c.*26 others(16): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 1079 | chr11 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66537926 | CAAATA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(102): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(3): Show | a0001c0001t0002g0252a0001c0001t0002g0253a0001c0001t0002g0254others(76): Show | 105 | 386 | 0.2720 | -5 | c.*58 others(16): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4329 | chr11 | TogoVar |