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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105787065 | A | ACCACCAG others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(169): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0026others(169): Show | 172 | 252 | 0.6825 | 9 | c.355 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L2_chr1_109478905_109497734 | 109482858 | C | CGGCGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00733.hp1 others(96): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(19): Show | 99 | 332 | 0.2982 | 9 | c.-10 others(20): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1046 | chr1 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00735.hp2 HG01257.hp1 NA18970.hp1 |
a0019a0025 | a0019c0016a0025c0023 | a0019c0016t0003a0019c0016t0034a0025c0023t0003 | a0019c0016t0003g0203a0019c0016t0034g0197a0025c0023t0003g0187 | 3 | 300 | 0.0100 | 9 | c.110 others(16): Show |
p.Gln others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ATXN7_chr3_63858867_64008462 | 63912714 | A | AGCCGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 HG03209.hp2 HG03540.hp1 |
a0012 | a0012c0014 | a0012c0014t0025a0012c0014t0046 | a0012c0014t0025g0007a0012c0014t0025g0008a0012c0014t0046g0010 | 3 | 300 | 0.0100 | 9 | c.121 others(16): Show |
p.Pro others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 524/7076 | 122/2679 | 41/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
AUTS2_chr7_69593475_70798506 | 69917822 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(2): Show | a0001c0001t0001g0026a0001c0001t0003g0076a0001c0001t0023g0072others(2): Show | 5 | 76 | 0.0658 | 9 | c.522 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69996946 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068others(8): Show | 11 | 76 | 0.1447 | 9 | c.522 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70254420 | C | CTTCTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0033others(43): Show | 46 | 76 | 0.6053 | 9 | c.660 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70338833 | C | CTTTATTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0033a0001c0001t0006g0038a0001c0001t0014g0070 | 3 | 76 | 0.0395 | 9 | c.661 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70496220 | A | ACACCCCA others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0030a0001c0001t0004g0054a0001c0001t0018g0003 | 3 | 76 | 0.0395 | 9 | c.690 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70496448 | A | ACACCCCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0035others(26): Show | 29 | 76 | 0.3816 | 9 | c.690 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70615565 | C | CTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp1 HG02165.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0002g0045a0001c0001t0002g0067a0001c0001t0004g0042others(3): Show | 6 | 76 | 0.0790 | 9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70768877 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0074a0001c0001t0004g0056a0001c0001t0006g0010others(5): Show | 8 | 76 | 0.1053 | 9 | c.173 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03195.hp1 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0084a0001c0001t0001g0151a0001c0001t0001g0152others(5): Show | 8 | 266 | 0.0301 | 9 | c.445 others(28): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34027002 | A | AGAAGTAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(56): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0121a0001c0001t0001g0151a0001c0001t0001g0152others(56): Show | 59 | 266 | 0.2218 | 9 | c.267 others(28): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp1 others(24): Show |
a0001a0005a0006 | a0001c0001a0001c0011a0005c0015others(1): Show | a0001c0001t0001a0001c0011t0001a0005c0015t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0033others(15): Show | 27 | 372 | 0.0726 | 9 | c.-20 others(24): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32502406 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00733.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0013others(23): Show | a0001c0001t0009g0244a0001c0001t0009g0252a0001c0001t0009g0266others(43): Show | 46 | 330 | 0.1394 | 9 | c.93+ others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32533011 | G | GTTTTTAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00733.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0013others(31): Show | a0001c0001t0009g0244a0001c0001t0009g0252a0001c0001t0009g0266others(67): Show | 70 | 330 | 0.2121 | 9 | c.94- others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32546069 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02129.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0033others(4): Show | a0001c0001t0010g0268a0001c0001t0010g0276a0001c0001t0014g0249others(5): Show | 8 | 330 | 0.0242 | 9 | c.300 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32546083 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02074.hp1 NA18954.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0050others(3): Show | a0001c0001t0001g0183a0001c0001t0001g0188a0001c0001t0001g0212others(7): Show | 10 | 330 | 0.0303 | 9 | c.300 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32551605 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(136): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(66): Show | a0001c0001t0001g0012a0001c0001t0001g0176a0001c0001t0001g0177others(136): Show | 139 | 330 | 0.4212 | 9 | c.462 others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579428 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0011others(5): Show | a0001c0002t0005g0062a0001c0002t0005g0064a0001c0002t0005g0065others(11): Show | 14 | 330 | 0.0424 | 9 | c.168 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579551 | T | TATGTATA others(2): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA20752.hp1 |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0030a0002c0003t0082 | a0002c0003t0008g0002a0002c0003t0030g0151a0002c0003t0082g0002 | 3 | 330 | 0.0091 | 9 | c.168 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579570 | T | TATGTATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0021a0001c0004t0031a0001c0004t0091others(6): Show | a0001c0004t0021g0157a0001c0004t0021g0325a0001c0004t0031g0168others(8): Show | 11 | 330 | 0.0333 | 9 | c.168 others(26): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 282903 | T | TCCCCTGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02273.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0357others(4): Show | 7 | 378 | 0.0185 | 9 | c.*52 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 4536 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 289743 | G | GCCCGCTG others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0027 | a0001c0001t0018g0037a0001c0001t0018g0038a0001c0003t0027g0194 | 3 | 378 | 0.0079 | 9 | c.229 others(26): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(3): Show |
a0002 | a0002c0006 | a0002c0006t0001a0002c0006t0025 | a0002c0006t0001g0226a0002c0006t0001g0227a0002c0006t0001g0229others(3): Show | 6 | 378 | 0.0159 | 9 | c.879 others(26): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0001g0349a0001c0001t0001g0350a0001c0001t0009g0372others(4): Show | 7 | 378 | 0.0185 | 9 | c.879 others(26): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01081.hp2 others(19): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0001g0086a0001c0001t0001g0202a0001c0001t0001g0289others(18): Show | 22 | 378 | 0.0582 | 9 | c.879 others(26): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02300.hp1 NA18612.hp1 others(3): Show |
a0001a0005 | a0001c0003a0001c0005a0005c0013 | a0001c0003t0001a0001c0005t0001a0005c0013t0001 | a0001c0003t0001g0199a0001c0005t0001g0038a0001c0005t0001g0186others(2): Show | 6 | 402 | 0.0149 | 9 | c.106 others(26): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02965.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0025 | a0001c0001t0018g0020a0001c0001t0018g0038a0001c0001t0018g0115others(6): Show | 9 | 314 | 0.0287 | 9 | c.*41 others(18): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(15): Show | 59 | 432 | 0.1366 | 9 | c.338 others(24): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823446 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01074.hp1 others(37): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0074a0001c0001t0001g0076others(11): Show | 40 | 391 | 0.1023 | 9 | c.-44 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4390 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833272 | T | TAAGAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02004.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0002t0001g0009a0001c0003t0001g0055others(1): Show | 5 | 391 | 0.0128 | 9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833275 | T | TAAGAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG04199.hp2 NA19010.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0006a0001c0002t0001g0009a0001c0003t0001g0054 | 3 | 391 | 0.0077 | 9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAGAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG02615.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001 | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0003t0001g0045others(2): Show | 5 | 391 | 0.0128 | 9 | c.*14 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | ||||||
B2M_chr15_44706517_44723145 | 44721696 | G | GCAACAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG03017.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0002g0007a0001c0001t0003g0040 | 4 | 385 | 0.0104 | 9 | c.*41 others(20): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3552 | chr15 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0012 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0046others(21): Show | 26 | 344 | 0.0756 | 9 | c.113 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0002g0015a0001c0001t0002g0021a0001c0001t0002g0023others(7): Show | 10 | 344 | 0.0291 | 9 | c.-47 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235509024 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206a0001c0001t0004g0207a0001c0001t0004g0248 | 3 | 344 | 0.0087 | 9 | c.-47 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4573 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167422636 | G | GAGAGTGG others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0002g0018a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | 9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167612367 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01496.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0076a0001c0001t0001g0105a0001c0001t0002g0018others(17): Show | 20 | 118 | 0.1695 | 9 | c.-40 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0023others(7): Show | 33 | 398 | 0.0829 | 9 | c.-12 others(20): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31253618 | A | AAAAACAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG00741.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0084a0001c0001t0001g0089others(25): Show | 28 | 268 | 0.1045 | 9 | c.459 others(26): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31334538 | A | ATGGCAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(166): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0024others(165): Show | 169 | 268 | 0.6306 | 9 | c.*48 others(20): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 2263 | chr13 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02965.hp2 HG02976.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0029 | a0001c0001t0002g0005a0001c0001t0002g0047a0001c0001t0002g0286others(1): Show | 8 | 406 | 0.0197 | 9 | c.-26 others(20): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02083.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046a0001c0001t0001g0192a0001c0001t0001g0197others(8): Show | 12 | 390 | 0.0308 | 9 | c.-30 others(28): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183277353 | A | AAAAGCAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024a0001c0001t0005g0054a0001c0001t0005g0074others(5): Show | 10 | 390 | 0.0256 | 9 | c.*64 others(20): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 3969 | chr3 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49143301 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(168): Show | 185 | 380 | 0.4868 | 9 | c.353 others(26): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01168.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0001g0116a0001c0001t0001g0257a0001c0001t0001g0328others(20): Show | 23 | 394 | 0.0584 | 9 | c.170 others(28): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 369994 | C | CGGCGCGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01070.hp2 others(25): Show |
a0001a0002a0004others(2): Show | a0001c0003a0002c0002a0002c0004others(6): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0006others(8): Show | a0001c0003t0001g0130a0002c0002t0001g0111a0002c0002t0001g0112others(25): Show | 28 | 184 | 0.1522 | 9 | c.151 others(22): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |