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 | 33596359 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0001g0080others(71): Show | 74 | 268 | 0.2761 | 8 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33596391 | C | CTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG06807.hp1 NA18522.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0012 | a0001c0001t0003a0002c0002t0007a0005c0012t0007 | a0001c0001t0003g0036a0002c0002t0007g0165a0005c0012t0007g0235 | 3 | 268 | 0.0112 | 8 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107565443 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00733.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0093others(67): Show | 70 | 222 | 0.3153 | 8 | c.-84 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107592360 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0011a0003c0003t0008 | a0001c0001t0008g0043a0001c0001t0008g0110a0001c0001t0011g0185others(2): Show | 5 | 222 | 0.0225 | 8 | c.-83 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107692170 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01243.hp2 others(16): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0002g0200a0001c0001t0004g0071a0001c0001t0004g0218others(16): Show | 19 | 222 | 0.0856 | 8 | c.-9- others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02055.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0177a0001c0001t0005g0027a0001c0001t0005g0194others(6): Show | 9 | 222 | 0.0405 | 8 | c.669 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769227 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0002g0177 | 2 | 222 | 0.0090 | 8 | c.907 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107769231 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0189a0001c0001t0006g0175 | 2 | 222 | 0.0090 | 8 | c.907 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG01517.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0206a0001c0001t0002g0216a0001c0001t0003g0069others(8): Show | 11 | 222 | 0.0496 | 8 | c.220 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BCAM_chr19_44804103_44826421 | 44804794 | G | GTCACCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00639.hp1 others(61): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0113a0001c0001t0001g0118others(39): Show | 64 | 410 | 0.1561 | 8 | c.-43 others(19): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 4308 | chr19 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0102a0001c0001t0001g0105others(63): Show | 107 | 420 | 0.2548 | 8 | c.-9+ others(23): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18952.hp2 NA18966.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0002g0167a0002c0002t0001g0063 | 8 | 420 | 0.0191 | 8 | c.-9+ others(23): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156661555 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01884.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0053others(27): Show | 34 | 420 | 0.0810 | 8 | c.*24 others(19): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107594489 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(276): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(251): Show | 279 | 398 | 0.7010 | 8 | c.344 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612391 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255a0001c0001t0002g0262a0001c0001t0002g0280others(8): Show | 11 | 398 | 0.0276 | 8 | c.590 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612433 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236a0001c0001t0001g0238a0001c0001t0001g0244 | 3 | 398 | 0.0075 | 8 | c.590 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00733.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0346a0001c0001t0002g0259a0001c0001t0003g0015others(5): Show | 9 | 398 | 0.0226 | 8 | c.590 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAR1_chr16_75223181_75256624 | 75234160 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG02683.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0008a0001c0022others(1): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0004others(2): Show | a0001c0003t0003g0098a0001c0008t0003g0103a0001c0008t0004g0091others(2): Show | 5 | 392 | 0.0128 | 8 | c.201 others(25): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(33): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0008a0001c0018others(4): Show | a0001c0003t0002a0001c0003t0003a0001c0008t0003others(6): Show | a0001c0003t0002g0002a0001c0003t0002g0026a0001c0003t0002g0078others(20): Show | 36 | 392 | 0.0918 | 8 | c.13- others(23): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93645638 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01516.hp2 others(25): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(22): Show | 28 | 202 | 0.1386 | 8 | c.318 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93660053 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03225.hp1 HG03834.hp1 others(19): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0015 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(17): Show | 22 | 202 | 0.1089 | 8 | c.317 others(27): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 NA18969.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0018a0001c0002t0001g0003a0001c0002t0001g0061others(1): Show | 5 | 202 | 0.0248 | 8 | c.-11 others(23): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53946505 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp1 others(21): Show |
a0005a0006a0015others(5): Show | a0005c0005a0006c0006a0015c0015others(5): Show | a0005c0005t0052a0006c0006t0012a0006c0006t0018others(12): Show | a0005c0005t0052g0268a0006c0006t0012g0069a0006c0006t0012g0178others(21): Show | 24 | 364 | 0.0659 | 8 | c.181 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53952992 | G | GCATTCAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00735.hp1 others(45): Show |
a0004a0009a0013others(9): Show | a0004c0004a0009c0009a0013c0013others(9): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0006others(19): Show | a0004c0004t0001g0287a0004c0004t0003g0080a0004c0004t0003g0084others(45): Show | 48 | 364 | 0.1319 | 8 | c.181 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 12/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01074.hp1 others(24): Show |
a0004a0005a0009others(8): Show | a0004c0004a0005c0005a0009c0009others(8): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0006others(13): Show | a0004c0004t0001g0184a0004c0004t0003g0084a0004c0004t0003g0087others(24): Show | 27 | 364 | 0.0742 | 8 | c.155 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02080.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0007a0001c0001t0015a0001c0001t0051others(10): Show | a0001c0001t0007g0020a0001c0001t0007g0028a0001c0001t0007g0029others(14): Show | 17 | 364 | 0.0467 | 8 | c.927 others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54012847 | T | TAGAGTTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001a0007a0017 | a0001c0017a0007c0008a0017c0024 | a0001c0017t0012a0007c0008t0020a0017c0024t0010 | a0001c0017t0012g0207a0007c0008t0020g0183a0017c0024t0010g0236others(1): Show | 4 | 364 | 0.0110 | 8 | c.723 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54041852 | T | TTGTGCCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0007a0001c0017others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0223a0001c0001t0001g0224a0001c0001t0001g0225others(180): Show | 185 | 364 | 0.5082 | 8 | c.143 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54044837 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(6): Show | a0001c0001t0001g0245a0001c0001t0002g0253a0001c0001t0002g0254others(9): Show | 13 | 364 | 0.0357 | 8 | c.142 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54060569 | G | GCCTTGGC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(48): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0001g0257a0001c0001t0004g0316a0001c0001t0004g0317others(48): Show | 51 | 364 | 0.1401 | 8 | c.-5- others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54065113 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(40): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0002g0153a0001c0001t0003g0165a0001c0001t0005g0019others(40): Show | 43 | 364 | 0.1181 | 8 | c.-6+ others(23): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60753383 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02083.hp1 HG02145.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0002c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0059a0001c0002t0001g0065a0001c0002t0002g0057others(7): Show | 10 | 74 | 0.1351 | 8 | c.403 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60757363 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02615.hp1 others(8): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0004t0001g0034others(8): Show | 11 | 74 | 0.1487 | 8 | c.403 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60814294 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040a0003c0001t0001g0011 | 2 | 74 | 0.0270 | 8 | c.476 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60841546 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(1): Show | a0001c0002t0001g0042a0001c0002t0001g0060a0001c0002t0001g0063others(6): Show | 9 | 74 | 0.1216 | 8 | c.477 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60911123 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02083.hp2 others(21): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0004t0001g0034a0001c0004t0001g0043a0001c0004t0001g0045others(21): Show | 24 | 74 | 0.3243 | 8 | c.993 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60938711 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02145.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(3): Show | a0001c0002t0001g0042a0001c0002t0001g0060a0001c0002t0001g0061others(7): Show | 10 | 74 | 0.1351 | 8 | c.108 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 NA19030.hp1 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0002a0003c0001t0001 | a0001c0004t0002g0035a0003c0001t0001g0007a0003c0001t0001g0025 | 3 | 74 | 0.0405 | 8 | c.148 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TCCACACA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0042a0001c0004t0001g0058a0002c0005t0001g0073others(1): Show | 4 | 74 | 0.0541 | 8 | c.148 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03471.hp2 NA19030.hp1 |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0001 | a0002c0005t0001g0051a0002c0006t0002g0027a0003c0001t0001g0025 | 3 | 74 | 0.0405 | 8 | c.202 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 NA19043.hp1 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0005a0003c0001t0001g0031 | 2 | 74 | 0.0270 | 8 | c.203 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61070366 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02922.hp2 others(3): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001a0003c0001t0002 | a0002c0003t0001g0015a0002c0003t0001g0016a0002c0003t0001g0017others(3): Show | 6 | 74 | 0.0811 | 8 | c.203 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61095844 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059a0001c0002t0001g0063a0001c0002t0001g0065others(1): Show | 4 | 74 | 0.0541 | 8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61109283 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 HG03098.hp2 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0026a0003c0001t0001g0031 | 2 | 74 | 0.0270 | 8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61172987 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01256.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(5): Show | a0001c0002t0001g0056a0001c0002t0002g0054a0001c0002t0002g0057others(17): Show | 20 | 74 | 0.2703 | 8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61220296 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(70): Show | 73 | 74 | 0.9865 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61230142 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001a0002c0005t0002 | a0001c0002t0001g0065a0002c0005t0001g0020a0002c0005t0002g0074 | 3 | 74 | 0.0405 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61246792 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 NA20129.hp1 |
a0002a0003 | a0002c0005a0002c0006a0003c0001 | a0002c0005t0001a0002c0006t0002a0003c0001t0002 | a0002c0005t0001g0073a0002c0006t0002g0030a0003c0001t0002g0022 | 3 | 74 | 0.0405 | 8 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61271589 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0002 | a0001c0002t0002g0053a0001c0008t0002g0062 | 2 | 74 | 0.0270 | 8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61350414 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02818.hp1 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0004t0001a0002c0003t0001 | a0001c0002t0001g0056a0001c0004t0001g0047a0002c0003t0001g0033 | 3 | 74 | 0.0405 | 8 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |