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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GLCT_chr13_31194975_31337276 | 31333167 | C | CAAAA | downstream_gene_variant | MODIFIER | HG01071.hp2 HG01169.hp1 HG02056.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0004a0001c0001t0006a0002c0002t0004others(1): Show | a0001c0001t0004g0061a0001c0001t0004g0165a0001c0001t0004g0215others(5): Show | 8 | 268 | 0.0299 | 4 | c.*34 others(15): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 892 | chr13 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791264 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01978.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0199a0001c0001t0002g0222a0001c0001t0003g0151others(6): Show | 9 | 406 | 0.0222 | 4 | c.-39 others(15): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3873 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791267 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0007a0001c0001t0002g0035a0001c0001t0002g0280others(3): Show | 8 | 406 | 0.0197 | 4 | c.-39 others(15): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3870 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791270 | C | CAAAA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02630.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0002g0005a0001c0001t0002g0047a0001c0001t0002g0282others(5): Show | 12 | 406 | 0.0296 | 4 | c.-39 others(15): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3867 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17792588 | A | ATAAC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01123.hp1 others(52): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0162a0001c0001t0002g0208a0001c0001t0002g0214others(47): Show | 55 | 406 | 0.1355 | 4 | c.-26 others(15): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2549 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17800981 | A | ATATG | intron_variant | MODIFIER | HG03139.hp2 HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0037 | a0001c0001t0003g0271a0001c0001t0010g0044a0001c0001t0037g0044 | 3 | 406 | 0.0074 | 4 | c.-51 others(21): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01175.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0001c0001t0010a0001c0001t0013others(2): Show | a0001c0001t0005g0259a0001c0001t0005g0289a0001c0001t0010g0287others(7): Show | 10 | 406 | 0.0246 | 4 | c.-50 others(21): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17805106 | A | ATTTT | intron_variant | MODIFIER | HG01361.hp2 HG02738.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0215a0001c0001t0002g0226a0001c0001t0003g0272others(5): Show | 8 | 406 | 0.0197 | 4 | c.-50 others(21): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17815518 | C | CAAAA | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01978.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0140a0001c0001t0005g0265a0001c0001t0009g0032others(2): Show | 5 | 406 | 0.0123 | 4 | c.*33 others(15): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1943 | chr19 | TogoVar | ||||||
B3GNT4_chr12_122198709_122213952 | 122205734 | T | TCTCC | intron_variant | MODIFIER | HG01243.hp2 HG03041.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0014 | 3 | 412 | 0.0073 | 4 | c.67- others(17): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B3GNT4_chr12_122198709_122213952 | 122211077 | T | TAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01175.hp1 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0001g0002a0001c0001t0003g0012a0001c0001t0011g0003others(7): Show | 22 | 412 | 0.0534 | 4 | c.*36 others(15): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2126 | chr12 | TogoVar | ||||||
B3GNT4_chr12_122198709_122213952 | 122213490 | T | TAAGA | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01106.hp2 others(37): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0003g0010a0001c0001t0004g0018a0001c0001t0004g0029others(16): Show | 40 | 412 | 0.0971 | 4 | c.*61 others(15): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 4539 | chr12 | TogoVar | ||||||
B3GNT4_chr12_122198709_122213952 | 122213507 | G | GAAAA | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01109.hp1 others(59): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(18): Show | a0001c0001t0003g0010a0001c0001t0003g0012a0001c0001t0004g0018others(24): Show | 62 | 412 | 0.1505 | 4 | c.*61 others(15): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 4556 | chr12 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0178a0001c0001t0001g0180a0001c0001t0001g0187others(6): Show | 9 | 390 | 0.0231 | 4 | c.-30 others(23): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT6_chr11_77029398_77046973 | 77031780 | C | CTTAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(91): Show | 295 | 442 | 0.6674 | 4 | c.-26 others(15): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2617 | chr11 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032730 | T | TACAC | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02015.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0043others(9): Show | 30 | 442 | 0.0679 | 4 | c.-17 others(15): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1667 | chr11 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77037965 | A | AGGAG | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0029a0001c0001t0036others(1): Show | a0001c0001t0007g0008a0001c0001t0007g0041a0001c0001t0007g0051others(4): Show | 13 | 442 | 0.0294 | 4 | c.1-1 others(17): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82940211 | T | TCGCG | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03017.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006a0001c0014 | a0001c0003t0009a0001c0006t0011a0001c0006t0018others(1): Show | a0001c0003t0009g0220a0001c0006t0011g0018a0001c0006t0018g0015others(1): Show | 4 | 266 | 0.0150 | 4 | c.*38 others(15): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1937 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82941965 | G | GTCTC | downstream_gene_variant | MODIFIER | HG01891.hp2 NA19043.hp2 NA20300.hp1 |
a0001a0003 | a0001c0011a0003c0030 | a0001c0011t0011a0003c0030t0011 | a0001c0011t0011g0138a0001c0011t0011g0139a0003c0030t0011g0140 | 3 | 266 | 0.0113 | 4 | c.*21 others(15): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 183 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82944268 | C | CTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(127): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(34): Show | a0001c0001t0002g0058a0001c0001t0002g0064a0001c0001t0002g0133others(125): Show | 130 | 266 | 0.4887 | 4 | c.*25 others(19): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82958848 | C | CTGTG | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03209.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0039others(4): Show | a0001c0001t0004g0242a0001c0001t0010g0185a0001c0001t0039g0260others(5): Show | 8 | 266 | 0.0301 | 4 | c.681 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82959021 | G | GGTGT | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG02572.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0015others(8): Show | a0001c0001t0004g0242a0001c0001t0014g0248a0001c0001t0015g0249others(9): Show | 12 | 266 | 0.0451 | 4 | c.681 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82964026 | G | GGGGC | intron_variant | MODIFIER | HG01074.hp1 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0021others(2): Show | a0001c0001t0001a0001c0002t0008a0003c0021t0035others(2): Show | a0001c0001t0001g0051a0001c0002t0008g0100a0003c0021t0035g0187others(2): Show | 5 | 266 | 0.0188 | 4 | c.555 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82964027 | T | TGGGG | intron_variant | MODIFIER | HG00621.hp2 HG01261.hp1 HG02027.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0172a0001c0001t0002g0174a0001c0001t0002g0183others(12): Show | 15 | 266 | 0.0564 | 4 | c.555 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82997928 | A | AATAT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(35): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0179a0001c0001t0002g0064a0001c0001t0004g0245others(35): Show | 38 | 266 | 0.1429 | 4 | c.459 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82997930 | A | AAAAT | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG01978.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0016others(2): Show | a0001c0001t0001g0061a0001c0001t0022g0230a0001c0002t0016g0134others(5): Show | 8 | 266 | 0.0301 | 4 | c.459 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82997930 | A | AATAT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0152a0001c0001t0002g0154a0001c0001t0002g0160others(17): Show | 20 | 266 | 0.0752 | 4 | c.459 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83001569 | A | AAACC | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01515.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0016others(6): Show | a0001c0001t0006a0001c0006t0001a0001c0016t0001others(7): Show | a0001c0001t0006g0164a0001c0001t0006g0182a0001c0006t0001g0017others(11): Show | 14 | 266 | 0.0526 | 4 | c.459 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83001597 | G | GGGGC | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02572.hp2 others(2): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0014others(1): Show | a0001c0003t0015a0001c0006t0001a0001c0014t0002others(1): Show | a0001c0003t0015g0198a0001c0003t0015g0199a0001c0006t0001g0016others(2): Show | 5 | 266 | 0.0188 | 4 | c.459 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83041075 | A | ATAAT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(38): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0016others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(14): Show | a0001c0004t0001g0002a0001c0004t0001g0021a0001c0004t0001g0025others(37): Show | 41 | 266 | 0.1541 | 4 | c.233 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0026a0001c0001t0032others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(6): Show | 28 | 406 | 0.0690 | 4 | c.-13 others(15): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49129618 | A | ATTTT | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02976.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0013a0001c0001t0019a0002c0002t0011others(1): Show | a0001c0001t0013g0156a0001c0001t0019g0014a0002c0002t0011g0154others(3): Show | 7 | 380 | 0.0184 | 4 | c.-31 others(15): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3150 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49136518 | G | GTTTA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0075a0001c0001t0001g0086a0001c0001t0001g0213others(10): Show | 13 | 380 | 0.0342 | 4 | c.14+ others(19): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49147374 | C | CTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0044a0001c0004t0008a0001c0004t0020others(2): Show | a0001c0001t0044g0161a0001c0004t0008g0264a0001c0004t0008g0265others(3): Show | 6 | 380 | 0.0158 | 4 | c.353 others(21): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49147849 | A | ATATG | intron_variant | MODIFIER | NA18977.hp2 NA18993.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0046 | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0046g0090 | 3 | 380 | 0.0079 | 4 | c.354 others(21): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49162912 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp1 others(99): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(94): Show | 102 | 380 | 0.2684 | 4 | c.767 others(21): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49171849 | C | CAAAT | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(28): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0004a0002c0002t0005a0002c0002t0054others(1): Show | a0002c0002t0004g0037a0002c0002t0004g0038a0002c0002t0004g0101others(25): Show | 31 | 380 | 0.0816 | 4 | c.*21 others(15): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 11/11 | 2127 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
B4GALNT3_chr12_454939_568509 | 471384 | C | CAATA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(85): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0013others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0089a0001c0001t0001g0262a0001c0001t0001g0263others(85): Show | 88 | 394 | 0.2234 | 4 | c.169 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 471720 | A | AAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0010others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(170): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(332): Show | 335 | 394 | 0.8503 | 4 | c.169 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 471746 | T | TAAAG | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0042a0003c0004others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(18): Show | a0001c0001t0002g0209a0001c0001t0002g0294a0001c0001t0005g0225others(22): Show | 25 | 394 | 0.0635 | 4 | c.169 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511482 | T | TCCAC | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02109.hp2 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0126a0001c0001t0003g0092a0001c0001t0003g0093others(21): Show | 24 | 394 | 0.0609 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511753 | T | TTCTG | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0016a0001c0001t0058a0001c0001t0062others(10): Show | a0001c0001t0016g0282a0001c0001t0058g0121a0001c0001t0062g0382others(10): Show | 13 | 394 | 0.0330 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511760 | A | ACCTT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0016a0001c0001t0058a0001c0001t0062others(10): Show | a0001c0001t0016g0282a0001c0001t0058g0121a0001c0001t0062g0382others(10): Show | 13 | 394 | 0.0330 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511777 | T | TTCTG | intron_variant | MODIFIER | HG00735.hp2 HG02273.hp2 HG03540.hp2 |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0012 | a0001c0001t0002a0006c0007t0047a0008c0012t0010 | a0001c0001t0002g0054a0006c0007t0047g0167a0008c0012t0010g0389 | 3 | 394 | 0.0076 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511784 | A | ACCTT | intron_variant | MODIFIER | HG00735.hp2 HG02273.hp2 HG03540.hp2 |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0012 | a0001c0001t0002a0006c0007t0047a0008c0012t0010 | a0001c0001t0002g0054a0006c0007t0047g0167a0008c0012t0010g0389 | 3 | 394 | 0.0076 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511801 | T | TTCTG | intron_variant | MODIFIER | NA18952.hp1 NA18981.hp2 NA19077.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0034 | a0001c0001t0001g0116a0001c0001t0001g0223a0004c0005t0034g0371 | 3 | 394 | 0.0076 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511966 | A | ACCTT | intron_variant | MODIFIER | NA18612.hp1 NA18954.hp2 NA18959.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0023a0005c0006t0003 | a0001c0001t0001g0015a0001c0001t0023g0102a0005c0006t0003g0238 | 3 | 394 | 0.0076 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512259 | T | TCCAC | intron_variant | MODIFIER | HG02040.hp2 HG02258.hp2 NA18612.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(2): Show | a0001c0001t0001g0351a0001c0001t0003g0350a0001c0001t0023g0102others(2): Show | 5 | 394 | 0.0127 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0262others(40): Show | 43 | 394 | 0.1091 | 4 | c.170 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 534369 | G | GTGTC | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0016a0007c0008t0002a0007c0008t0017 | a0001c0001t0016g0179a0007c0008t0002g0004a0007c0008t0002g0307others(1): Show | 4 | 394 | 0.0102 | 4 | c.170 others(19): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |