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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BARX2_chr11_129370848_129457279 | 129424562 | GGCACT | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(139): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(130): Show |
142 | 398 | 0.3568 | -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 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0152 others(44): Show |
47 | 52 | 0.9038 | -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(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0071 others(100): Show |
109 | 368 | 0.2962 | -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(136): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0071 others(131): Show |
139 | 368 | 0.3777 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(18): Show |
76 | 290 | 0.2621 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show |
50 | 343 | 0.1458 | -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 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0062 |
8 | 140 | 0.0571 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0182 |
4 | 43 | 0.0930 | -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 | a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0044 others(6): Show |
15 | 416 | 0.0361 | -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 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0027 others(21): Show |
42 | 48 | 0.8750 | -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 | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0105 others(67): Show |
70 | 210 | 0.3333 | -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 | a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 others(4): Show |
7 | 378 | 0.0185 | -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 | a0001c0002t0002g0097 a0001c0002t0002g0118 a0001c0002t0002g0128 |
3 | 378 | 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 | a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0085 others(8): Show |
11 | 111 | 0.0991 | -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 | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0058 others(71): Show |
74 | 205 | 0.3610 | -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 |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0105 others(167): Show |
170 | 325 | 0.5231 | -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 | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0105 others(51): Show |
54 | 98 | 0.5510 | -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 | a0001c0003t0006g0197 a0001c0003t0006g0198 a0001c0003t0006g0199 |
3 | 198 | 0.0152 | -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 | a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 |
3 | 197 | 0.0152 | -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(136): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0001c0023others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 others(136): Show |
139 | 177 | 0.7853 | -5 | c.*32 others(16): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1978 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159455119 | TTTATA | T | intron_variant | MODIFIER | HG00544.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | 214 | 0.0093 | -5 | c.146 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159455238 | ATCTCT | A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0017 | a0001c0001t0001a0002c0002t0001a0015c0017t0001 | a0001c0001t0001g0104 a0002c0002t0001g0048 a0002c0002t0001g0050 others(3): Show |
6 | 214 | 0.0280 | -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 | a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 others(10): Show |
13 | 78 | 0.1667 | -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 | a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0144 others(4): Show |
7 | 54 | 0.1296 | -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 | a0001c0001t0005g0130 a0001c0001t0008g0131 a0004c0009t0001g0010 |
3 | 214 | 0.0140 | -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 | a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0002g0205 others(18): Show |
21 | 146 | 0.1438 | -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 | a0001c0001t0002g0144 a0002c0002t0002g0143 a0006c0006t0002g0145 |
3 | 214 | 0.0140 | -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 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(11): Show |
14 | 70 | 0.2000 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0095 a0001c0001t0002g0097 a0001c0001t0004g0096 others(2): Show |
5 | 410 | 0.0122 | -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 |
a0005 | a0005c0005 | a0005c0005t0003a0005c0005t0005a0005c0005t0016 | a0005c0005t0003g0350 a0005c0005t0003g0351 a0005c0005t0005g0345 others(5): Show |
8 | 166 | 0.0482 | -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 | a0001c0003t0001g0003 a0001c0003t0001g0028 a0001c0003t0001g0049 others(2): Show |
7 | 9 | 0.7778 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0117 others(23): Show |
32 | 316 | 0.1013 | -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 | a0001c0001t0003g0019 a0001c0001t0003g0239 a0001c0002t0003g0020 others(2): Show |
7 | 316 | 0.0222 | -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(185): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 others(172): Show |
188 | 316 | 0.5949 | -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(131): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(119): Show |
134 | 316 | 0.4241 | -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(143): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(129): Show |
146 | 214 | 0.6822 | -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 |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0013 | a0001c0001t0001a0004c0004t0001a0009c0013t0005 | a0001c0001t0001g0020 a0001c0001t0001g0065 a0001c0001t0001g0070 others(2): Show |
10 | 39 | 0.2564 | -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(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0131 a0001c0001t0002g0137 others(5): Show |
11 | 384 | 0.0286 | -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 |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(3): Show | a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 others(76): Show |
105 | 250 | 0.4200 | -5 | c.*58 others(16): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4329 | chr11 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72702802 | CTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG01891.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 others(38): Show |
43 | 61 | 0.7049 | -5 | c.77- others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725599 | AAAAAC | A | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 HG03516.hp2 others(2): Show |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0003a0004c0006t0001 | a0003c0005t0003g0349 a0003c0005t0003g0350 a0003c0005t0003g0352 others(2): Show |
5 | 396 | 0.0126 | -5 | c.587 others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169480670 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00735.hp2 others(34): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0003g0004 a0001c0001t0003g0037 a0001c0001t0003g0038 others(23): Show |
37 | 65 | 0.5692 | -5 | c.59+ others(20): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG02135.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(1): Show | a0001c0001t0001g0140 a0001c0001t0002g0010 a0001c0001t0002g0035 others(10): Show |
19 | 31 | 0.6129 | -5 | c.386 others(22): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121841903 | TAATAC | T | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 |
3 | 372 | 0.0081 | -5 | c.130 others(24): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 12/18 | chr4 | TogoVar | |||||||
BBS7_chr4_121819329_121875474 | 121874159 | AAGAAG | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0030 others(13): Show |
22 | 372 | 0.0591 | -5 | c.-38 others(16): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 3686 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33134215 | ATTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 NA18956.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0191 a0001c0001t0002g0190 a0001c0001t0013g0041 others(2): Show |
5 | 138 | 0.0362 | -5 | c.-12 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33139266 | AAAAAC | A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0019 | a0001c0001t0013g0041 a0001c0001t0013g0042 a0002c0002t0019g0043 |
3 | 266 | 0.0113 | -5 | c.-11 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33182086 | CAAACA | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(32): Show |
a0001a0002a0015 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 others(32): Show |
35 | 266 | 0.1316 | -5 | c.442 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33247938 | CTTATA | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(27): Show |
a0001a0002a0015 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0004g0013 others(27): Show |
30 | 266 | 0.1128 | -5 | c.443 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33256482 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0012 | a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 others(6): Show |
9 | 266 | 0.0338 | -5 | c.443 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |