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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAZ2A_chr12_56590596_56635326 | 56628177 | C | CAAA | intron_variant | MODIFIER | HG01168.hp1 HG02717.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0036 a0001c0001t0003g0038 a0001c0001t0005g0042 others(6): Show |
9 | 316 | 0.0285 | 3 | c.-3+ others(18): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56631450 | C | CAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02109.hp1 HG02145.hp1 others(17): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0015others(1): Show | a0001c0001t0037a0001c0002t0021a0001c0002t0031others(12): Show | a0001c0001t0037g0221 a0001c0002t0021g0104 a0001c0002t0021g0208 others(16): Show |
20 | 316 | 0.0633 | 3 | c.-13 others(14): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1125 | chr12 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159316689 | C | CAAA | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01496.hp2 HG02683.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0019 a0001c0001t0002g0166 a0002c0002t0002g0201 others(3): Show |
6 | 216 | 0.0278 | 3 | c.*35 others(14): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2289 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159327055 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0005a0006others(13): Show | a0001c0001a0001c0008a0001c0023others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 others(130): Show |
133 | 216 | 0.6157 | 3 | c.594 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 34/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159329136 | G | GAAA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(16): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0029a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 others(16): Show |
19 | 216 | 0.0880 | 3 | c.594 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 34/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159332326 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(19): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0029a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show |
22 | 216 | 0.1019 | 3 | c.594 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 34/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159345736 | C | CCAG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(45): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0007others(11): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0001t0002g0144 a0001c0001t0002g0153 a0001c0001t0002g0189 others(45): Show |
48 | 216 | 0.2222 | 3 | c.545 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 31/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159348319 | C | CAAA | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0030 a0002c0002t0001g0048 a0002c0002t0001g0050 others(6): Show |
9 | 216 | 0.0417 | 3 | c.529 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 30/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159366913 | T | TCAG | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0132 a0002c0002t0001g0128 |
2 | 216 | 0.0093 | 3 | c.421 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 27/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159404371 | A | ATTT | intron_variant | MODIFIER | HG02738.hp2 NA18941.hp2 NA18952.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0118 a0002c0002t0001g0077 a0002c0002t0001g0124 others(3): Show |
6 | 216 | 0.0278 | 3 | c.283 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 16/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159432383 | C | CTAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(75): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(75): Show |
78 | 216 | 0.3611 | 3 | c.190 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 9/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159455762 | G | GTTT | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01081.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0040 others(12): Show |
15 | 216 | 0.0694 | 3 | c.146 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159463704 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(86): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(22): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(86): Show |
89 | 216 | 0.4120 | 3 | c.146 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159467697 | T | TGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(74): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0029others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0067 others(74): Show |
77 | 216 | 0.3565 | 3 | c.145 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159495484 | C | CAAA | intron_variant | MODIFIER | HG01192.hp1 HG02004.hp2 HG02132.hp2 others(5): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0002g0189 others(5): Show |
8 | 216 | 0.0370 | 3 | c.-2- others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00673.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0007a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0007g0086 a0002c0002t0001g0049 a0002c0002t0001g0051 others(7): Show |
10 | 216 | 0.0463 | 3 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159541259 | C | CTTA | intron_variant | MODIFIER | HG01109.hp2 HG01258.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0020a0002c0002 | a0001c0001t0002a0001c0020t0001a0002c0002t0005 | a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0197 others(2): Show |
5 | 216 | 0.0232 | 3 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159574301 | C | CAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0020others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(198): Show |
201 | 216 | 0.9306 | 3 | c.-45 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159576912 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp2 HG02738.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0087 others(10): Show |
13 | 216 | 0.0602 | 3 | c.-45 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159582063 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0020others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(198): Show |
201 | 216 | 0.9306 | 3 | c.-45 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159588214 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0018others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0038 others(42): Show |
45 | 216 | 0.2083 | 3 | c.-46 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604083 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0020others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(206): Show |
209 | 216 | 0.9676 | 3 | c.-46 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159606922 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(54): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0020a0001c0029others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(54): Show |
57 | 216 | 0.2639 | 3 | c.-46 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159613483 | T | TTCA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(127): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0008a0001c0020others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(127): Show |
130 | 216 | 0.6019 | 3 | c.-46 others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47218357 | A | AAAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(80): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0058 others(46): Show |
83 | 412 | 0.2015 | 3 | c.*34 others(14): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 2466 | chr19 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47221426 | G | GCCC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(76): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(4): Show | a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0026 others(49): Show |
79 | 412 | 0.1918 | 3 | c.*37 others(12): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 4/4 | 375 | chr19 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74027385 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG02895.hp1 HG04115.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0292 a0001c0001t0002g0309 a0001c0001t0002g0311 others(5): Show |
8 | 386 | 0.0207 | 3 | c.286 others(20): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74031119 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00642.hp2 others(70): Show |
a0001a0010a0013others(1): Show | a0001c0001a0010c0011a0013c0017others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0292 a0001c0001t0002g0293 others(69): Show |
73 | 386 | 0.1891 | 3 | c.351 others(20): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0313 a0001c0001t0002g0331 a0001c0001t0003g0149 others(36): Show |
39 | 386 | 0.1010 | 3 | c.495 others(20): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74056198 | A | ATTT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(74): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0005c0006others(4): Show | a0001c0001t0003a0003c0003t0001a0003c0003t0003others(6): Show | a0001c0001t0003g0168 a0001c0001t0003g0172 a0001c0001t0003g0178 others(74): Show |
77 | 386 | 0.1995 | 3 | c.138 others(20): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74062051 | G | GAAA | intron_variant | MODIFIER | HG02135.hp2 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0002a0001c0001t0003a0006c0005t0008 | a0001c0001t0002g0292 a0001c0001t0002g0352 a0001c0001t0003g0165 others(5): Show |
8 | 386 | 0.0207 | 3 | c.157 others(22): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74067997 | T | TAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(89): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0007others(6): Show | a0001c0001t0002a0003c0003t0001a0003c0003t0003others(8): Show | a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(89): Show |
92 | 386 | 0.2383 | 3 | c.*32 others(14): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 1906 | chr14 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74069101 | C | CTTT | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03486.hp1 HG03831.hp1 others(3): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0001a0005c0006t0001 | a0003c0003t0001g0014 a0003c0003t0001g0032 a0003c0003t0001g0069 others(3): Show |
6 | 386 | 0.0155 | 3 | c.*44 others(14): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3010 | chr14 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74069850 | C | CTTT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02015.hp1 others(12): Show |
a0003a0005a0016 | a0003c0003a0005c0006a0016c0013 | a0003c0003t0001a0003c0003t0003a0005c0006t0001others(1): Show | a0003c0003t0001g0016 a0003c0003t0001g0032 a0003c0003t0001g0046 others(12): Show |
15 | 386 | 0.0389 | 3 | c.*51 others(14): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3759 | chr14 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057096 | C | CATA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(63): Show |
70 | 318 | 0.2201 | 3 | c.220 others(18): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27068063 | C | CATA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(114): Show |
126 | 318 | 0.3962 | 3 | c.334 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66507487 | A | AATC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(102): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(3): Show | a0001c0001t0002g0044 a0001c0001t0002g0228 a0001c0001t0002g0244 others(77): Show |
105 | 386 | 0.2720 | 3 | c.-31 others(14): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3147 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CCAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01978.hp1 others(7): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0002a0004c0004t0005 | a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0046 others(7): Show |
10 | 398 | 0.0251 | 3 | c.*44 others(14): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTT | intron_variant | MODIFIER | HG03704.hp2 NA18946.hp2 NA18948.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0056 others(7): Show |
10 | 398 | 0.0251 | 3 | c.24+ others(18): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72705587 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0188 a0001c0001t0002g0161 a0002c0002t0001g0158 others(12): Show |
15 | 398 | 0.0377 | 3 | c.77- others(18): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72719263 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(108): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0006others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0292 others(107): Show |
111 | 398 | 0.2789 | 3 | c.405 others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72729161 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01257.hp1 others(30): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0001c0001t0002a0011c0010t0001 | a0001c0001t0001g0312 a0001c0001t0001g0330 a0001c0001t0001g0331 others(29): Show |
33 | 398 | 0.0829 | 3 | c.643 others(18): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72739657 | A | AAAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(380): Show |
386 | 398 | 0.9699 | 3 | c.*20 others(14): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1185 | chr15 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72742073 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(118): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(7): Show | a0001c0001t0001g0051 a0001c0001t0001g0145 a0001c0001t0001g0391 others(117): Show |
121 | 398 | 0.3040 | 3 | c.*44 others(14): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 3601 | chr15 | TogoVar | |||||||
BBS5_chr2_169474494_169511655 | 169480670 | C | CTTT | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01255.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0140 a0001c0001t0002g0007 a0001c0001t0002g0009 others(13): Show |
28 | 398 | 0.0704 | 3 | c.59+ others(18): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169490187 | A | ATTT | intron_variant | MODIFIER | HG02135.hp1 HG02257.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031a0001c0001t0038others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0119 a0001c0001t0002g0120 others(7): Show |
11 | 398 | 0.0276 | 3 | c.386 others(20): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169490982 | C | CAGT | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0047 | a0001c0001t0001g0040 a0001c0001t0001g0168 a0001c0001t0001g0169 others(7): Show |
13 | 398 | 0.0327 | 3 | c.387 others(20): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121868684 | C | CAAA | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02965.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0186 others(5): Show |
13 | 374 | 0.0348 | 3 | c.37- others(16): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33204406 | C | CAAA | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02630.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0022 | a0001c0001t0001a0004c0004t0001a0004c0022t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0182 others(5): Show |
8 | 268 | 0.0299 | 3 | 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 | 33215995 | C | CTTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(211): Show |
214 | 268 | 0.7985 | 3 | c.442 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar |