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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33249226 | G | GACAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0023others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(8): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0135others(46): Show | 49 | 268 | 0.1828 | 4 | c.443 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33280905 | G | GTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02622.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(3): Show | a0001c0001t0001g0217a0001c0001t0001g0221a0001c0001t0001g0227others(8): Show | 11 | 268 | 0.0410 | 4 | c.101 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33294290 | C | CATCT | intron_variant | MODIFIER | HG02451.hp2 HG02683.hp2 HG03491.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0014others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0148a0001c0001t0005g0202others(3): Show | 6 | 268 | 0.0224 | 4 | c.101 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33294359 | G | GTCCA | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 NA18993.hp2 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0002a0001c0001t0003a0009c0008t0002 | a0001c0001t0002g0223a0001c0001t0003g0038a0009c0008t0002g0121 | 3 | 268 | 0.0112 | 4 | c.101 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33303522 | T | TCCCC | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01261.hp2 others(12): Show |
a0001a0003a0014 | a0001c0001a0001c0023a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0132a0001c0001t0001g0136a0001c0001t0001g0157others(12): Show | 15 | 268 | 0.0560 | 4 | c.101 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33313036 | G | GGTGT | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0143a0001c0001t0001g0153a0001c0001t0001g0154others(8): Show | 11 | 268 | 0.0410 | 4 | c.101 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33328993 | T | TTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(66): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0010a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0058others(66): Show | 69 | 268 | 0.2575 | 4 | c.101 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33344078 | G | GTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG04204.hp2 others(2): Show |
a0001a0004 | a0001c0010a0004c0004a0004c0022 | a0001c0010t0001a0004c0004t0001a0004c0022t0001 | a0001c0010t0001g0167a0004c0004t0001g0182a0004c0004t0001g0183others(2): Show | 5 | 268 | 0.0187 | 4 | c.127 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33352327 | C | CTTAG | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02809.hp1 others(4): Show |
a0001a0004 | a0001c0010a0004c0004a0004c0022 | a0001c0010t0001a0004c0004t0001a0004c0022t0001 | a0001c0010t0001g0084a0004c0004t0001g0182a0004c0004t0001g0183others(4): Show | 7 | 268 | 0.0261 | 4 | c.153 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01891.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0026a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0073others(12): Show | 15 | 268 | 0.0560 | 4 | c.178 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33375575 | A | ATTTC | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0010t0001 | a0001c0001t0001g0106a0001c0001t0001g0116a0001c0001t0003g0020others(4): Show | 7 | 268 | 0.0261 | 4 | c.178 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33384715 | T | TGAGA | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0010a0001c0023others(2): Show | a0001c0001t0001a0001c0010t0001a0001c0023t0001others(2): Show | a0001c0001t0001g0253a0001c0001t0001g0265a0001c0001t0001g0266others(9): Show | 12 | 268 | 0.0448 | 4 | c.196 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33386455 | C | CATTT | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01255.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0021a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0050a0001c0001t0001g0056a0001c0001t0001g0061others(27): Show | 30 | 268 | 0.1119 | 4 | c.196 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33389687 | T | TAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0234a0001c0001t0001g0242a0001c0001t0001g0244others(12): Show | 15 | 268 | 0.0560 | 4 | c.211 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33455242 | G | GTACT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(181): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(181): Show | 184 | 268 | 0.6866 | 4 | c.211 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33475212 | C | CAATA | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0001c0010t0001g0084 | 3 | 268 | 0.0112 | 4 | c.211 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33492811 | A | AGTGT | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01081.hp1 others(24): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0025a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0058a0001c0001t0001g0075a0001c0001t0001g0094others(24): Show | 27 | 268 | 0.1008 | 4 | c.211 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33503544 | C | CCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(219): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(219): Show | 222 | 268 | 0.8284 | 4 | c.211 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33516487 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01358.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0025others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0106a0001c0001t0001g0116a0001c0001t0001g0131others(31): Show | 34 | 268 | 0.1269 | 4 | c.229 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33528330 | T | TTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0062a0001c0001t0001g0079others(36): Show | 39 | 268 | 0.1455 | 4 | c.229 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565819 | A | ACCGC | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0118a0001c0001t0001g0131a0001c0001t0001g0229others(5): Show | 8 | 268 | 0.0299 | 4 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TTATA | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0151a0001c0001t0002g0152a0001c0001t0002g0198others(2): Show | 5 | 268 | 0.0187 | 4 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33574684 | A | AACAC | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00609.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0025a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0051a0001c0001t0001g0058a0001c0001t0001g0089others(38): Show | 41 | 268 | 0.1530 | 4 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33574729 | G | GCACA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00733.hp1 others(38): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0062a0001c0001t0001g0079a0001c0001t0001g0108others(38): Show | 41 | 268 | 0.1530 | 4 | c.252 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33596257 | A | AACAC | intron_variant | MODIFIER | HG00609.hp1 HG02723.hp2 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0002 | a0001c0001t0002a0001c0025t0003a0002c0002t0002others(2): Show | a0001c0001t0002g0172a0001c0025t0003g0030a0002c0002t0002g0123others(3): Show | 6 | 268 | 0.0224 | 4 | c.252 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33596299 | C | CACAT | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01255.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0132others(15): Show | 18 | 268 | 0.0672 | 4 | c.252 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596359 | T | TTATC | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(64): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0001c0023others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0055others(64): Show | 67 | 268 | 0.2500 | 4 | c.252 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33597069 | T | TGTCA | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0136others(2): Show | 5 | 268 | 0.0187 | 4 | c.252 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107565443 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0025others(108): Show | 111 | 222 | 0.5000 | 4 | c.-84 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107566175 | C | CAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0006g0203a0001c0001t0010g0103a0001c0001t0014g0208others(2): Show | 5 | 222 | 0.0225 | 4 | c.-84 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107573560 | A | AAAAC | intron_variant | MODIFIER | HG02083.hp1 HG03453.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0165a0001c0001t0002g0138a0001c0001t0002g0139others(1): Show | 4 | 222 | 0.0180 | 4 | c.-84 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107576703 | T | TATTG | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0104a0001c0001t0001g0165a0001c0001t0002g0006others(32): Show | 35 | 222 | 0.1577 | 4 | c.-84 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107616005 | C | CTTTT | intron_variant | MODIFIER | HG01192.hp2 HG01934.hp1 HG01952.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0031a0001c0001t0004g0198a0001c0001t0006g0096others(10): Show | 13 | 222 | 0.0586 | 4 | c.-83 others(23): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107638780 | T | TACAC | intron_variant | MODIFIER | HG01257.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0076a0001c0001t0005g0083 | 2 | 222 | 0.0090 | 4 | c.-83 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107652190 | A | ACTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0024others(216): Show | 219 | 222 | 0.9865 | 4 | c.-10 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107652383 | T | TAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01175.hp1 others(43): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0018a0001c0001t0001g0093a0001c0001t0001g0154others(43): Show | 46 | 222 | 0.2072 | 4 | c.-10 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107692170 | T | TTTTA | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01346.hp2 others(30): Show |
a0001a0003a0008 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0123a0001c0001t0003g0094a0001c0001t0003g0095others(30): Show | 33 | 222 | 0.1487 | 4 | c.-9- others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01169.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0054a0001c0001t0001g0126a0001c0001t0001g0130others(7): Show | 10 | 222 | 0.0451 | 4 | c.669 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769169 | C | CATAG | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0001g0168a0001c0001t0010g0103a0001c0001t0011g0185others(3): Show | 6 | 222 | 0.0270 | 4 | c.907 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769223 | T | TAGAC | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0218a0001c0001t0016g0210 | 2 | 222 | 0.0090 | 4 | c.907 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769231 | C | CAGAT | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00735.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0050others(53): Show | 56 | 222 | 0.2523 | 4 | c.907 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATAT | intron_variant | MODIFIER | HG01109.hp1 HG01975.hp2 HG02280.hp1 others(25): Show |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0002g0009a0001c0001t0002g0013a0001c0001t0002g0138others(25): Show | 28 | 222 | 0.1261 | 4 | c.220 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107791350 | A | ATAAG | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01168.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0034others(1): Show | a0001c0001t0004g0017a0001c0001t0004g0071a0001c0001t0004g0099others(16): Show | 19 | 222 | 0.0856 | 4 | c.235 others(19): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAM_chr19_44804103_44826421 | 44821107 | A | AGAGG | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02723.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0004a0003c0006t0003 | a0001c0001t0003g0039a0001c0001t0003g0055a0001c0001t0003g0086others(3): Show | 6 | 410 | 0.0146 | 4 | c.*19 others(13): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 15/15 | 196 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
BCAM_chr19_44804103_44826421 | 44823716 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(57): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0005others(32): Show | 60 | 410 | 0.1463 | 4 | c.*27 others(15): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 2296 | chr19 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643631 | C | CAGAG | intron_variant | MODIFIER | HG02723.hp2 HG03139.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278others(1): Show | 4 | 420 | 0.0095 | 4 | c.-9+ others(19): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAG | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0187a0001c0001t0001g0188others(13): Show | 23 | 420 | 0.0548 | 4 | c.-9+ others(19): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CAGAG | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053a0001c0001t0001g0163a0001c0001t0001g0164others(2): Show | 6 | 420 | 0.0143 | 4 | c.-9+ others(19): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156660388 | C | CTGTG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0222others(24): Show | 30 | 420 | 0.0714 | 4 | c.*12 others(15): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 861 | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156661555 | C | CGTGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0114a0001c0001t0001g0159a0001c0001t0001g0188others(53): Show | 78 | 420 | 0.1857 | 4 | c.*24 others(15): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar |