view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0127 others(5): Show |
8 | 28 | 0.2857 | 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 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0108 others(56): Show |
59 | 264 | 0.2235 | 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 |
a0001a0004a0005 | a0001c0001a0001c0010a0004c0015others(1): Show | a0001c0001t0001a0001c0010t0001a0004c0015t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show |
27 | 48 | 0.5625 | 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 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(21): Show | a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0259 others(43): Show |
46 | 256 | 0.1797 | 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 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(28): Show | a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0259 others(67): Show |
70 | 328 | 0.2134 | 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 | a0001c0001t0008a0001c0001t0011a0001c0001t0028others(4): Show | a0001c0001t0008g0276 a0001c0001t0008g0286 a0001c0001t0011g0256 others(5): Show |
8 | 214 | 0.0374 | 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 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(2): Show | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0194 others(7): Show |
10 | 244 | 0.0410 | 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(135): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(54): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0175 others(135): Show |
138 | 193 | 0.7150 | 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 | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0063 a0001c0002t0002g0065 others(11): Show |
14 | 317 | 0.0442 | 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 | a0002c0003t0009a0002c0003t0024a0002c0003t0062 | a0002c0003t0009g0003 a0002c0003t0024g0128 a0002c0003t0062g0003 |
3 | 307 | 0.0098 | 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 | a0001c0004t0015a0001c0004t0025a0001c0004t0084others(6): Show | a0001c0004t0015g0122 a0001c0004t0015g0322 a0001c0004t0025g0166 others(8): Show |
11 | 328 | 0.0335 | 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 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0357 others(4): Show |
7 | 348 | 0.0201 | 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 | a0001c0001t0018a0001c0003t0026 | a0001c0001t0018g0038 a0001c0001t0018g0039 a0001c0003t0026g0196 |
3 | 370 | 0.0081 | 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 | a0002c0006t0001a0002c0006t0024 | a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0232 others(3): Show |
6 | 113 | 0.0531 | 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 | a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0009g0001 others(4): Show |
7 | 114 | 0.0614 | 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 | a0001c0001t0001g0089 a0001c0001t0001g0204 a0001c0001t0001g0289 others(18): Show |
22 | 129 | 0.1705 | 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 |
a0001a0004 | a0001c0003a0001c0005a0004c0013 | a0001c0003t0001a0001c0005t0001a0004c0013t0001 | a0001c0003t0001g0196 a0001c0005t0001g0037 a0001c0005t0001g0185 others(2): Show |
6 | 22 | 0.2727 | 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 | a0001c0001t0018g0020 a0001c0001t0018g0038 a0001c0001t0018g0112 others(6): Show |
9 | 56 | 0.1607 | 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 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(13): Show |
59 | 76 | 0.7763 | 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 |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0050 others(9): Show |
40 | 386 | 0.1036 | 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 | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0020 others(1): Show |
5 | 314 | 0.0159 | 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 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0003t0001g0020 |
3 | 255 | 0.0118 | 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 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0003t0001g0002 others(2): Show |
5 | 143 | 0.0350 | 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 | a0001c0001t0001g0013 a0001c0001t0002g0007 a0001c0001t0003g0040 |
4 | 56 | 0.0714 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0046 others(19): Show |
26 | 50 | 0.5200 | 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 | a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0022 others(7): Show |
10 | 229 | 0.0437 | 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 | a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0246 |
3 | 333 | 0.0090 | 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(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0002g0018 others(2): Show |
5 | 116 | 0.0431 | 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(10): Show | a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0105 others(17): Show |
20 | 31 | 0.6452 | 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(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0023 others(6): Show |
33 | 166 | 0.1988 | 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 |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0086 a0001c0001t0001g0090 others(25): Show |
28 | 163 | 0.1718 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0024 others(164): Show |
169 | 266 | 0.6353 | 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 | a0001c0001t0002g0005 a0001c0001t0002g0048 a0001c0001t0002g0276 others(1): Show |
8 | 320 | 0.0250 | 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 | a0001c0001t0001g0045 a0001c0001t0001g0186 a0001c0001t0001g0191 others(8): Show |
12 | 23 | 0.5217 | 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 | a0001c0001t0005g0014 a0001c0001t0005g0046 a0001c0001t0005g0054 others(3): Show |
10 | 388 | 0.0258 | 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(181): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(167): Show |
184 | 378 | 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 | a0001c0001t0001g0116 a0001c0001t0001g0257 a0001c0001t0001g0328 others(20): Show |
23 | 43 | 0.5349 | 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 |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0002c0004others(7): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0006others(9): Show | a0001c0003t0001g0091 a0002c0002t0001g0054 a0002c0002t0001g0055 others(25): Show |
28 | 179 | 0.1564 | 9 | c.151 others(22): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 370012 | G | GGGCGCGG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01891.hp1 others(6): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0001c0024others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0003others(6): Show | a0001c0001t0003g0019 a0001c0001t0004g0016 a0001c0003t0003g0018 others(6): Show |
9 | 180 | 0.0500 | 9 | c.151 others(22): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 370052 | G | GCGGGCGG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01943.hp2 others(11): Show |
a0001a0005a0006others(3): Show | a0001c0001a0005c0010a0006c0007others(3): Show | a0001c0001t0001a0005c0010t0001a0006c0007t0001others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(11): Show |
14 | 180 | 0.0778 | 9 | c.151 others(22): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177600075 | G | GCGGCGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(184): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(73): Show |
187 | 453 | 0.4128 | 9 | c.-13 others(18): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 56 | chr5 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0061 others(7): Show |
10 | 14 | 0.7143 | 9 | c.680 others(28): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28211386 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0075 others(2): Show |
5 | 14 | 0.3571 | 9 | c.681 others(28): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28258615 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | 31 | 0.1613 | 9 | c.934 others(28): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90102839 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01975.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0131a0001c0001t0133 | a0001c0001t0008g0103 a0001c0001t0131g0189 a0001c0001t0133g0172 |
3 | 151 | 0.0199 | 9 | c.-16 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103030 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0087a0001c0002t0069 | a0001c0001t0087g0093 a0001c0002t0069g0087 |
2 | 176 | 0.0114 | 9 | c.-16 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90150719 | T | TTCTCAGT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0044a0001c0004t0043 | a0001c0001t0044g0164 a0001c0004t0043g0169 |
2 | 192 | 0.0104 | 9 | c.-16 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90225066 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02647.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0089a0001c0001t0137others(5): Show | a0001c0001t0007g0165 a0001c0001t0089g0084 a0001c0001t0137g0194 others(5): Show |
8 | 160 | 0.0500 | 9 | c.-27 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64274992 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02451.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 others(19): Show |
24 | 98 | 0.2449 | 9 | c.188 others(26): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02280.hp1 others(11): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0115 a0001c0001t0003g0239 a0001c0001t0004g0151 others(9): Show |
14 | 231 | 0.0606 | 9 | c.181 others(26): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar |