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 | 33240260 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0174a0001c0001t0008g0209a0001c0001t0008g0210others(7): Show | 10 | 268 | 0.0373 | -2 | 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 | 33257496 | TCA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01106.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0191a0001c0001t0001g0200a0001c0001t0001g0201others(31): Show | 34 | 268 | 0.1269 | -2 | c.617 others(15): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33269441 | ATC | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(27): Show |
a0001a0002a0011 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0025t0003others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0027a0001c0001t0004g0014others(27): Show | 30 | 268 | 0.1119 | -2 | c.703 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33280909 | TTG | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0039a0001c0001t0001g0125a0001c0001t0001g0244others(37): Show | 40 | 268 | 0.1493 | -2 | c.101 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33281366 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0113a0001c0001t0001g0124a0001c0001t0001g0125others(100): Show | 103 | 268 | 0.3843 | -2 | c.101 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33290044 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0008g0209a0001c0001t0008g0210a0001c0001t0008g0232others(7): Show | 10 | 268 | 0.0373 | -2 | 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 | 33295468 | TTC | T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0001g0221a0001c0001t0001g0225a0001c0001t0001g0227others(8): Show | 11 | 268 | 0.0410 | -2 | 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 | 33303801 | ACT | A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0001a0002c0017t0001 | a0001c0001t0001g0265a0001c0001t0001g0266a0002c0017t0001g0267 | 3 | 268 | 0.0112 | -2 | 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 | 33305137 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0135others(41): Show | 44 | 268 | 0.1642 | -2 | 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 | 33313036 | GGT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(105): Show | 108 | 268 | 0.4030 | -2 | 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 | 33322356 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01106.hp2 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0083a0001c0001t0001g0265others(18): Show | 21 | 268 | 0.0784 | -2 | 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 | 33366424 | TTC | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(45): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0003g0027a0002c0002t0001g0130a0002c0002t0001g0137others(45): Show | 48 | 268 | 0.1791 | -2 | c.169 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33368577 | TAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02129.hp1 HG02257.hp1 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0017a0005c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0113a0001c0001t0001g0217a0001c0001t0002g0220others(7): Show | 10 | 268 | 0.0373 | -2 | c.178 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33382459 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01261.hp2 others(42): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0010a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(42): Show | 45 | 268 | 0.1679 | -2 | c.179 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33384698 | CTG | C | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG02015.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0055others(17): Show | 20 | 268 | 0.0746 | -2 | c.196 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33389687 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG02056.hp2 others(11): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0191a0001c0001t0001g0200others(11): Show | 14 | 268 | 0.0522 | -2 | c.211 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33411008 | GGT | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(27): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0002c0002t0001g0159others(27): Show | 30 | 268 | 0.1119 | -2 | 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 | 33411011 | GTT | G | intron_variant | MODIFIER | HG01074.hp2 HG02015.hp1 HG02622.hp2 others(9): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0011a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0013a0005c0011t0001others(5): Show | a0001c0001t0001g0083a0001c0001t0001g0114a0001c0001t0001g0131others(9): Show | 12 | 268 | 0.0448 | -2 | 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 | 33423604 | CAG | C | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(26): Show | 29 | 268 | 0.1082 | -2 | 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 | 33426043 | CCA | C | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(26): Show | 29 | 268 | 0.1082 | -2 | c.211 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33429878 | CTG | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0001g0221a0001c0001t0001g0225a0001c0001t0001g0227others(6): Show | 9 | 268 | 0.0336 | -2 | 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 | 33433052 | CTG | C | intron_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG02056.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0001g0191a0001c0001t0001g0200others(12): Show | 15 | 268 | 0.0560 | -2 | 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 | 33434096 | GTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02970.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0158others(5): Show | 8 | 268 | 0.0299 | -2 | 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 | 33467031 | CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0001c0013others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(100): Show | 103 | 268 | 0.3843 | -2 | c.211 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33467565 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0080a0001c0001t0001g0132a0001c0001t0001g0133others(67): Show | 70 | 268 | 0.2612 | -2 | c.211 others(23): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33468999 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(201): Show | 204 | 268 | 0.7612 | -2 | 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 | 33478875 | GTT | G | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00738.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(48): Show | 51 | 268 | 0.1903 | -2 | 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 | 33488988 | CTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(81): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0001c0026others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0050others(81): Show | 84 | 268 | 0.3134 | -2 | 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 | 33492811 | AGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0057others(22): Show | 25 | 268 | 0.0933 | -2 | 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 | 33518245 | CTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00741.hp2 others(23): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0062a0001c0001t0001g0079others(23): Show | 26 | 268 | 0.0970 | -2 | 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 | 33542699 | ATG | A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01255.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0110others(11): Show | 14 | 268 | 0.0522 | -2 | c.252 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33542743 | GTA | G | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0118a0001c0001t0001g0229a0002c0002t0001g0138others(2): Show | 5 | 268 | 0.0187 | -2 | c.252 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33542790 | TAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(25): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0049a0001c0001t0001g0063a0001c0001t0001g0093others(25): Show | 28 | 268 | 0.1045 | -2 | c.252 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33563360 | TCA | T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG02257.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0118others(12): Show | 15 | 268 | 0.0560 | -2 | 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 | 33565781 | GTA | G | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01081.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0023a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0056a0001c0001t0001g0062others(26): Show | 29 | 268 | 0.1082 | -2 | 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 | 33566306 | AAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(35): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0083a0001c0001t0001g0106a0001c0001t0001g0108others(35): Show | 38 | 268 | 0.1418 | -2 | 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 | 33574684 | AAC | A | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp1 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0106a0001c0001t0001g0173a0001c0001t0001g0181others(3): Show | 6 | 268 | 0.0224 | -2 | 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 | 33581095 | TGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp2 others(95): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0001c0026others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(95): Show | 98 | 268 | 0.3657 | -2 | 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 | 33582523 | TAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp2 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0004a0001c0001t0010a0001c0013t0010others(1): Show | a0001c0001t0004g0007a0001c0001t0010g0117a0001c0001t0010g0170others(2): Show | 5 | 268 | 0.0187 | -2 | 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 | 33596257 | AAC | A | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG02056.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0064a0001c0001t0001g0089a0001c0001t0001g0222others(7): Show | 10 | 268 | 0.0373 | -2 | c.252 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33597069 | TCA | T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00609.hp2 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0081others(49): Show | 52 | 268 | 0.1940 | -2 | c.252 others(21): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33604498 | TTA | T | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG02015.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0057others(24): Show | 27 | 268 | 0.1008 | -2 | c.252 others(19): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107524611 | CAG | C | intron_variant | MODIFIER | HG00099.hp1 HG02083.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0201a0001c0001t0002g0200a0001c0001t0002g0209others(1): Show | 4 | 222 | 0.0180 | -2 | c.-15 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107524614 | AGG | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01081.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0002g0214others(13): Show | 16 | 222 | 0.0721 | -2 | c.-15 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107540367 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0032a0003c0003t0033a0005c0006t0048 | a0003c0003t0032g0016a0003c0003t0033g0005a0005c0006t0048g0004 | 3 | 222 | 0.0135 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107552372 | AAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0033others(20): Show | 23 | 222 | 0.1036 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107562150 | TCA | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0035 | a0001c0001t0001g0104a0001c0001t0004g0099a0001c0001t0004g0105others(10): Show | 13 | 222 | 0.0586 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107580322 | GAA | G | intron_variant | MODIFIER | HG01070.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0006a0001c0001t0042g0007 | 2 | 222 | 0.0090 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107583928 | AAT | A | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0032a0003c0003t0033a0005c0006t0048 | a0003c0003t0032g0016a0003c0003t0033g0005a0005c0006t0048g0004 | 3 | 222 | 0.0135 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107584010 | ATT | A | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0062a0001c0001t0006g0026 | 2 | 222 | 0.0090 | -2 | c.-84 others(21): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | chr3 | TogoVar |