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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAM_chr19_44804103_44826421 | 44823716 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01099.hp1 others(17): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0005others(12): Show | 20 | 410 | 0.0488 | 5 | c.*27 others(16): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 2296 | chr19 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107580400 | A | ACCCGG | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(1): Show | 4 | 398 | 0.0101 | 5 | c.-15 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599203 | A | ATAATT | intron_variant | MODIFIER | HG00544.hp2 NA18951.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0124a0001c0001t0001g0141 | 4 | 398 | 0.0101 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599227 | T | TTTTTA | intron_variant | MODIFIER | HG00544.hp2 NA18951.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0124a0001c0001t0001g0141 | 4 | 398 | 0.0101 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599270 | A | ATAATT | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0327a0001c0001t0007g0350a0001c0001t0007g0352others(2): Show | 5 | 398 | 0.0126 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP31_chrX_153695492_153729387 | 153700135 | C | CGGGGG | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 267 | 0.0038 | 5 | c.*80 others(14): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 356 | chrX | TogoVar | ||||||
BCAP31_chrX_153695492_153729387 | 153700142 | G | GGGGGT | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 267 | 0.0038 | 5 | c.*79 others(14): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 349 | chrX | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG02015.hp1 others(24): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0043others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0125a0001c0001t0002g0133others(17): Show | 27 | 392 | 0.0689 | 5 | c.13- others(20): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93556890 | A | AGACTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0010others(101): Show | 108 | 202 | 0.5347 | 5 | c.*53 others(16): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 4850 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53965275 | G | GGTTTT | intron_variant | MODIFIER | HG02615.hp1 NA18971.hp2 NA18994.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0005a0007c0008t0009 | a0003c0003t0005g0039a0003c0003t0005g0056a0003c0003t0005g0057others(1): Show | 4 | 364 | 0.0110 | 5 | c.148 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54065164 | C | CTATCT | intron_variant | MODIFIER | HG01192.hp1 HG02155.hp2 HG02523.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0006 | a0001c0001t0004a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0004g0324a0001c0001t0004g0325a0001c0001t0014g0322others(4): Show | 7 | 364 | 0.0192 | 5 | c.-6+ others(20): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60706760 | A | AAAAAC | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(27): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056a0001c0002t0001g0059a0001c0002t0001g0060others(27): Show | 30 | 74 | 0.4054 | 5 | c.215 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60720131 | G | GTTTTC | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0001a0002c0003t0003 | a0001c0004t0002g0035a0002c0003t0001g0015a0002c0003t0001g0016others(3): Show | 6 | 74 | 0.0811 | 5 | c.321 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60724420 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG03225.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0002g0054a0001c0002t0002g0057a0001c0004t0001g0043others(3): Show | 6 | 74 | 0.0811 | 5 | c.321 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60735429 | T | TTTTTA | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(13): Show | 16 | 74 | 0.2162 | 5 | c.322 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60735591 | C | CCACAG | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(13): Show | 16 | 74 | 0.2162 | 5 | c.322 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60799520 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp2 HG02965.hp1 |
a0002a0003 | a0002c0003a0002c0006a0003c0001 | a0002c0003t0001a0002c0006t0002a0003c0001t0002 | a0002c0003t0001g0015a0002c0006t0002g0027a0003c0001t0002g0029 | 3 | 74 | 0.0405 | 5 | c.404 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60855452 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0004t0001g0034a0001c0004t0001g0043a0001c0004t0001g0047others(4): Show | 7 | 74 | 0.0946 | 5 | c.477 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60880955 | T | TTTTTG | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0001g0059others(58): Show | 61 | 74 | 0.8243 | 5 | c.661 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60976020 | C | CTTTTT | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0003a0003c0001others(1): Show | a0001c0004t0001a0002c0003t0001a0003c0001t0001others(2): Show | a0001c0004t0001g0058a0002c0003t0001g0052a0003c0001t0001g0028others(2): Show | 5 | 74 | 0.0676 | 5 | c.122 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61045912 | T | TATATA | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp1 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0056a0001c0002t0002g0054a0002c0003t0001g0038others(1): Show | 4 | 74 | 0.0541 | 5 | c.202 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61191780 | A | AAAAAG | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(19): Show |
a0001a0002a0003 | a0001c0004a0001c0008a0002c0003others(3): Show | a0001c0004t0001a0001c0008t0002a0002c0003t0001others(5): Show | a0001c0004t0001g0049a0001c0008t0002g0062a0002c0003t0001g0015others(19): Show | 22 | 74 | 0.2973 | 5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61216516 | G | GTTTAT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(34): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(10): Show | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0065others(34): Show | 37 | 74 | 0.5000 | 5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61278029 | G | GTTTGT | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0046a0003c0001t0001g0026 | 2 | 74 | 0.0270 | 5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61298822 | A | ATTTAT | intron_variant | MODIFIER | HG01099.hp2 HG02083.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056a0001c0002t0002g0070a0001c0004t0001g0045others(7): Show | 10 | 74 | 0.1351 | 5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796485 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196a0001c0001t0001g0198a0001c0001t0002g0197 | 3 | 270 | 0.0111 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATATAT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0100a0001c0001t0001g0102a0001c0001t0001g0104others(4): Show | 7 | 270 | 0.0259 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATATTT | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01070.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0001t0001g0113others(15): Show | 18 | 270 | 0.0667 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01496.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0179others(5): Show | 8 | 270 | 0.0296 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50796488 | T | TATATA | intron_variant | MODIFIER | HG02273.hp2 HG02293.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0087a0001c0001t0003g0073a0002c0002t0002g0021 | 3 | 270 | 0.0111 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50863248 | C | CTTTTT | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106a0001c0001t0002g0192a0001c0001t0002g0213others(3): Show | 6 | 270 | 0.0222 | 5 | c.400 others(24): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAS4_chr20_50790061_50882177 | 50872263 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0115a0001c0001t0005g0207a0001c0001t0005g0214others(4): Show | 7 | 270 | 0.0259 | 5 | c.400 others(22): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24833818 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0291others(45): Show | 48 | 322 | 0.1491 | 5 | c.904 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836889 | G | GAAAGA | intron_variant | MODIFIER | HG02258.hp1 HG02683.hp2 HG03017.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0052a0001c0001t0089others(2): Show | a0001c0001t0001g0291a0001c0001t0052g0199a0001c0001t0089g0255others(2): Show | 5 | 322 | 0.0155 | 5 | c.818 others(20): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24886832 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(49): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0094a0001c0001t0001g0291a0001c0001t0002g0106others(49): Show | 52 | 322 | 0.1615 | 5 | c.280 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0006g0281a0001c0001t0006g0283a0001c0001t0014g0084others(7): Show | 10 | 322 | 0.0311 | 5 | c.280 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24892059 | T | TTTTTG | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(22): Show | a0001c0001t0003g0052a0001c0001t0003g0292a0001c0001t0006g0232others(32): Show | 35 | 322 | 0.1087 | 5 | c.279 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24892093 | T | TGTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0010a0001c0001t0001g0064a0001c0001t0001g0094others(45): Show | 48 | 322 | 0.1491 | 5 | c.279 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24943493 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01069.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037a0001c0001t0001g0167a0001c0001t0001g0246others(23): Show | 26 | 322 | 0.0808 | 5 | c.6+5 others(18): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48790935 | A | AAATAC | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03486.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0136a0001c0001t0001g0158 | 3 | 408 | 0.0074 | 5 | c.*44 others(16): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 4128 | chr19 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48809066 | C | CAAAAA | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02071.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0035a0001c0001t0001g0054others(10): Show | 17 | 408 | 0.0417 | 5 | c.24+ others(20): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
BCCIP_chr10_125818546_125841551 | 125834829 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp2 others(49): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0016others(13): Show | 52 | 446 | 0.1166 | 5 | c.774 others(20): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BCHE_chr3_165767904_165842423 | 165791948 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01074.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0058a0001c0001t0001g0059others(22): Show | 33 | 304 | 0.1086 | 5 | c.151 others(24): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165800021 | C | CTTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(218): Show | 275 | 304 | 0.9046 | 5 | c.151 others(26): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41412380 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0001a0001c0006t0002others(1): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(11): Show | 17 | 374 | 0.0455 | 5 | c.375 others(22): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80203965 | T | TGTATA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(212): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(212): Show | 215 | 294 | 0.7313 | 5 | c.951 others(20): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80335245 | A | AAAAAG | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG01884.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0244a0001c0001t0002g0290a0001c0001t0003g0093others(40): Show | 43 | 294 | 0.1463 | 5 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80335247 | A | AAAGAG | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(81): Show | 84 | 294 | 0.2857 | 5 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80336486 | C | CAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG01891.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0030a0001c0001t0002g0247a0001c0001t0002g0280others(7): Show | 10 | 294 | 0.0340 | 5 | c.103 others(24): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDK_chr16_31103386_31117791 | 31114883 | A | ATTTCC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 6 | 300 | 0.0200 | 5 | c.*26 others(16): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 2093 | chr16 | TogoVar |