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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAZ2B_chr2_159313979_159621548 | 159597995 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0020others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0012others(118): Show | 121 | 216 | 0.5602 | -2 | c.-46 others(21): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159599935 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01515.hp1 HG02280.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0019a0002c0007others(2): Show | a0001c0001t0001a0001c0019t0002a0002c0007t0002others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0041a0001c0019t0002g0136others(3): Show | 6 | 216 | 0.0278 | -2 | c.-46 others(21): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159605040 | AAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(17): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0029a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0117others(17): Show | 20 | 216 | 0.0926 | -2 | c.-46 others(21): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159606314 | ACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0002c0002others(8): Show | a0001c0001t0002a0001c0008t0002a0002c0002t0002others(8): Show | a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0153others(61): Show | 64 | 216 | 0.2963 | -2 | c.-46 others(19): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159613459 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0023others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(111): Show | 114 | 216 | 0.5278 | -2 | c.-46 others(19): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BAZ2B_chr2_159313979_159621548 | 159615517 | CAG | C | intron_variant | MODIFIER | HG00280.hp2 HG02738.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0007a0002c0028 | a0001c0001t0002a0002c0007t0002a0002c0028t0002 | a0001c0001t0002g0214a0002c0007t0002g0215a0002c0028t0002g0216 | 3 | 216 | 0.0139 | -2 | c.-46 others(17): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
BBC3_chr19_47215824_47236199 | 47227311 | GCC | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0031a0001c0001t0001g0050others(60): Show | 100 | 412 | 0.2427 | -2 | c.275 others(17): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
BBIP1_chr10_110893730_110924180 | 110898158 | GTT | G | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0152a0001c0001t0002g0060others(4): Show | 7 | 418 | 0.0168 | -2 | c.*22 others(13): Show |
BBIP1 | ENSG00000214413.9 | transcript | ENST00000448814.7 | protein_coding | 571 | chr10 | TogoVar | ||||||
BBIP1_chr10_110893730_110924180 | 110917829 | TTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(413): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(167): Show | 416 | 418 | 0.9952 | -2 | c.37+ others(15): Show |
BBIP1 | ENSG00000214413.9 | transcript | ENST00000448814.7 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
BBIP1_chr10_110893730_110924180 | 110923685 | GAA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0062a0001c0001t0001g0064others(49): Show | 131 | 418 | 0.3134 | -2 | c.-46 others(13): Show |
BBIP1 | ENSG00000214413.9 | transcript | ENST00000448814.7 | protein_coding | 4506 | chr10 | TogoVar | ||||||
BBLN_chr9_128155265_128168924 | 128157824 | CAA | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0011a0001c0001t0002g0045a0001c0001t0003g0007 | 11 | 396 | 0.0278 | -2 | c.-25 others(13): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 2440 | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74014380 | TCC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(77): Show |
a0003a0008a0011others(1): Show | a0003c0003a0003c0015a0008c0010others(2): Show | a0003c0003t0001a0003c0003t0015a0003c0015t0001others(3): Show | a0003c0003t0001g0008a0003c0003t0001g0009a0003c0003t0001g0010others(77): Show | 80 | 386 | 0.2073 | -2 | c.-50 others(13): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4968 | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74015080 | CAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00642.hp2 others(75): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0292a0001c0001t0002g0293others(74): Show | 78 | 386 | 0.2021 | -2 | c.-43 others(13): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4268 | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74017326 | AAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(284): Show |
a0000a0001a0002others(11): Show | a0000c0018a0001c0001a0002c0002others(14): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(25): Show | a0000c0018t0003g0175a0001c0001t0002g0003a0001c0001t0002g0292others(282): Show | 287 | 386 | 0.7435 | -2 | c.-21 others(13): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2022 | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74017569 | ACT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00642.hp2 others(71): Show |
a0001a0010a0013others(1): Show | a0001c0001a0010c0011a0013c0017others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0292a0001c0001t0002g0293others(70): Show | 74 | 386 | 0.1917 | -2 | c.-19 others(13): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 1779 | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74021581 | CTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02809.hp1 others(4): Show |
a0004 | a0004c0007a0004c0009 | a0004c0007t0003a0004c0009t0007 | a0004c0007t0003g0004a0004c0007t0003g0005a0004c0007t0003g0006others(4): Show | 7 | 386 | 0.0181 | -2 | c.57- others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74026930 | GAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00642.hp2 others(76): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0007others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0292a0001c0001t0002g0293others(75): Show | 79 | 386 | 0.2047 | -2 | c.286 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74027385 | CTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02280.hp2 others(10): Show |
a0002a0004a0005 | a0002c0002a0004c0007a0004c0009others(1): Show | a0002c0002t0001a0004c0007t0003a0004c0009t0007others(1): Show | a0002c0002t0001g0197a0002c0002t0001g0198a0002c0002t0001g0199others(10): Show | 13 | 386 | 0.0337 | -2 | c.286 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74028467 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00738.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0003a0001c0001t0012a0002c0002t0001others(1): Show | a0001c0001t0003g0159a0001c0001t0003g0161a0001c0001t0003g0162others(25): Show | 28 | 386 | 0.0725 | -2 | c.286 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74028513 | AAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01981.hp1 HG02071.hp1 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0294a0001c0001t0002g0297a0001c0001t0002g0318others(15): Show | 18 | 386 | 0.0466 | -2 | c.286 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74028731 | CAG | C | intron_variant | MODIFIER | NA18966.hp2 NA18985.hp2 NA19012.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053a0003c0003t0001g0054a0003c0003t0001g0069 | 3 | 386 | 0.0078 | -2 | c.286 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74028948 | CCA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(225): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0292a0001c0001t0002g0293others(223): Show | 228 | 386 | 0.5907 | -2 | c.286 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74030921 | CAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(204): Show |
a0001a0003a0004others(8): Show | a0001c0001a0003c0003a0004c0004others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0292a0001c0001t0002g0293others(202): Show | 207 | 386 | 0.5363 | -2 | c.351 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74030939 | TAG | T | intron_variant | MODIFIER | HG02738.hp1 HG02818.hp2 NA18962.hp2 others(2): Show |
a0003a0004a0006 | a0003c0003a0003c0015a0004c0004others(1): Show | a0003c0003t0001a0003c0015t0001a0004c0004t0004others(1): Show | a0003c0003t0001g0051a0003c0003t0001g0086a0003c0015t0001g0059others(2): Show | 5 | 386 | 0.0130 | -2 | c.351 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74032118 | ATT | A | intron_variant | MODIFIER | HG02135.hp2 HG02145.hp2 HG02622.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0002a0002c0002t0010a0004c0007t0003 | a0001c0001t0002g0305a0001c0001t0002g0340a0001c0001t0002g0349others(7): Show | 10 | 386 | 0.0259 | -2 | c.352 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74035413 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(16): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0004c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0004c0004t0004others(6): Show | a0001c0001t0002g0333a0001c0001t0003g0149a0001c0001t0003g0150others(16): Show | 19 | 386 | 0.0492 | -2 | c.495 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74037274 | CTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 HG01496.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0316a0001c0001t0002g0318a0001c0001t0002g0322others(6): Show | 9 | 386 | 0.0233 | -2 | c.495 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74040060 | TCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
a0000a0001a0010others(1): Show | a0000c0018a0001c0001a0010c0011others(1): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(5): Show | a0000c0018t0003g0175a0001c0001t0002g0003a0001c0001t0002g0292others(111): Show | 115 | 386 | 0.2979 | -2 | c.496 others(17): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74042879 | GAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(43): Show |
a0000a0001a0002others(3): Show | a0000c0018a0001c0001a0002c0002others(3): Show | a0000c0018t0003a0001c0001t0002a0001c0001t0003others(5): Show | a0000c0018t0003g0175a0001c0001t0002g0305a0001c0001t0003g0151others(43): Show | 46 | 386 | 0.1192 | -2 | c.576 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74043556 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(70): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0006others(3): Show | a0002c0002t0001a0002c0002t0010a0003c0003t0001others(5): Show | a0002c0002t0001g0199a0002c0002t0001g0200a0002c0002t0001g0201others(70): Show | 73 | 386 | 0.1891 | -2 | c.577 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74061585 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(92): Show |
a0003a0005a0008others(2): Show | a0003c0003a0003c0015a0005c0006others(3): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0015others(6): Show | a0003c0003t0001g0008a0003c0003t0001g0009a0003c0003t0001g0010others(92): Show | 95 | 386 | 0.2461 | -2 | c.157 others(21): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74062051 | GAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(45): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0006 | a0003c0003t0003a0004c0004t0004a0005c0006t0001 | a0003c0003t0003g0189a0004c0004t0004g0002a0004c0004t0004g0088others(44): Show | 48 | 386 | 0.1244 | -2 | c.157 others(21): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOF1_chr14_74014349_74071092 | 74063865 | CAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01943.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0003c0003t0001a0003c0003t0015others(1): Show | a0001c0001t0002g0316a0001c0001t0002g0326a0001c0001t0002g0354others(6): Show | 9 | 386 | 0.0233 | -2 | c.157 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27037360 | TAA | T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(87): Show | 95 | 318 | 0.2987 | -2 | c.-39 others(13): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3454 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27041184 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0058a0001c0001t0001g0064a0001c0001t0001g0065others(74): Show | 80 | 318 | 0.2516 | -2 | c.-30 others(17): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27048466 | GGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(39): Show | 48 | 318 | 0.1509 | -2 | c.-38 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27049135 | TGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(155): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(143): Show | 158 | 318 | 0.4969 | -2 | c.-38 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27050640 | ATG | A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00735.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0118a0001c0001t0003g0238others(45): Show | 53 | 318 | 0.1667 | -2 | c.-38 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27054205 | CTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0058a0001c0001t0002g0009a0001c0001t0002g0010others(67): Show | 77 | 318 | 0.2421 | -2 | c.-38 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27063656 | CAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0284a0001c0002t0001g0003a0001c0002t0001g0057others(2): Show | 7 | 318 | 0.0220 | -2 | c.334 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27070706 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(49): Show | 58 | 318 | 0.1824 | -2 | c.334 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27077615 | TAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(177): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(170): Show | 180 | 318 | 0.5660 | -2 | c.335 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27077632 | AAC | A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0172a0001c0002t0006g0255a0001c0002t0006g0257others(4): Show | 7 | 318 | 0.0220 | -2 | c.335 others(21): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27085555 | ATC | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0020others(93): Show | 107 | 318 | 0.3365 | -2 | c.335 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27102783 | GTT | G | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0011a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0011g0284a0001c0002t0001g0003a0001c0002t0001g0057others(19): Show | 26 | 318 | 0.0818 | -2 | c.533 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBOX1_chr11_27035815_27132809 | 27116472 | CAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01109.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0011a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0011g0284a0001c0002t0001g0071a0001c0002t0001g0172others(27): Show | 33 | 318 | 0.1038 | -2 | c.639 others(17): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BBS10_chr12_76339474_76353415 | 76341454 | CTA | C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02895.hp2 others(11): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0005a0006c0006t0005 | a0001c0001t0005g0005a0006c0006t0005g0028 | 14 | 416 | 0.0337 | -2 | c.*43 others(13): Show |
BBS10 | ENSG00000179941.9 | transcript | ENST00000650064.2 | protein_coding | 3019 | chr12 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122730770 | TAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(37): Show |
a0001a0003a0006others(1): Show | a0001c0006a0001c0016a0003c0003others(2): Show | a0001c0006t0004a0001c0016t0007a0003c0003t0003others(2): Show | a0001c0006t0004g0012a0001c0006t0004g0044a0001c0006t0004g0090others(19): Show | 40 | 364 | 0.1099 | -2 | c.-21 others(13): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1933 | chr4 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122733376 | AAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(86): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0012others(8): Show | a0001c0001t0001a0002c0002t0002a0002c0012t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0028others(18): Show | 89 | 364 | 0.2445 | -2 | c.-11 others(17): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BBS12_chr4_122727704_122749939 | 122733424 | CAT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG03239.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0027 | 3 | 364 | 0.0082 | -2 | c.-11 others(17): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | chr4 | TogoVar |