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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT3_chr12_454939_568509 | 549842 | C | T | synonymous_variant | LOW | NA18967.hp2 NA18993.hp1 |
a0005 | a0005c0017 | a0005c0017t0001a0005c0017t0002 | a0005c0017t0001g0267a0005c0017t0002g0259 | 2 | 394 | 0.0051 | 0 | c.927 others(3): Show |
p.Asn others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 10/20 | 1365/5493 | 927/2997 | 309/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553282 | T | C | synonymous_variant | LOW | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(342): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0010a0001c0013others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(179): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(342): Show | 345 | 394 | 0.8756 | 0 | c.135 others(4): Show |
p.Leu others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 1797/5493 | 1359/2997 | 453/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553510 | C | T | synonymous_variant | LOW | HG02080.hp2 HG02109.hp2 HG02258.hp2 others(12): Show |
a0006a0007a0016others(2): Show | a0006c0045a0007c0008a0016c0032others(2): Show | a0006c0045t0003a0007c0008t0002a0007c0008t0007others(7): Show | a0006c0045t0003g0392a0007c0008t0002g0004a0007c0008t0002g0307others(12): Show | 15 | 394 | 0.0381 | 0 | c.158 others(4): Show |
p.Ser others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2025/5493 | 1587/2997 | 529/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553561 | G | T | synonymous_variant | LOW | HG04115.hp1 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0383 | 1 | 394 | 0.0025 | 0 | c.163 others(4): Show |
p.Gly others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2076/5493 | 1638/2997 | 546/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553630 | C | T | synonymous_variant | LOW | NA18522.hp1 | a0016 | a0016c0032 | a0016c0032t0002 | a0016c0032t0002g0006 | 1 | 394 | 0.0025 | 0 | c.170 others(4): Show |
p.Ile others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2145/5493 | 1707/2997 | 569/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553672 | T | C | synonymous_variant | LOW | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(109): Show |
a0002a0003a0005others(13): Show | a0002c0003a0002c0034a0002c0036others(19): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(76): Show | a0002c0003t0001g0058a0002c0003t0001g0159a0002c0003t0001g0249others(109): Show | 112 | 394 | 0.2843 | 0 | c.174 others(4): Show |
p.Pro others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2187/5493 | 1749/2997 | 583/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553951 | C | G | synonymous_variant | LOW | HG00280.hp2 | a0003 | a0003c0049 | a0003c0049t0002 | a0003c0049t0002g0091 | 1 | 394 | 0.0025 | 0 | c.202 others(4): Show |
p.Val others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2466/5493 | 2028/2997 | 676/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 553981 | G | C | splice_region_variant others(1): Show |
LOW | HG02293.hp2 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0319 | 1 | 394 | 0.0025 | 0 | c.205 others(4): Show |
p.Arg others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/20 | 2496/5493 | 2058/2997 | 686/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 556574 | C | T | synonymous_variant | LOW | HG02109.hp1 HG02559.hp2 NA21309.hp1 |
a0001 | a0001c0013 | a0001c0013t0001a0001c0013t0002a0001c0013t0020 | a0001c0013t0001g0128a0001c0013t0002g0177a0001c0013t0020g0129 | 3 | 394 | 0.0076 | 0 | c.208 others(4): Show |
p.Asn others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 15/20 | 2526/5493 | 2088/2997 | 696/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 556721 | C | T | synonymous_variant | LOW | HG00642.hp2 | a0002 | a0002c0036 | a0002c0036t0006 | a0002c0036t0006g0346 | 1 | 394 | 0.0025 | 0 | c.223 others(4): Show |
p.Val others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 15/20 | 2673/5493 | 2235/2997 | 745/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 559359 | G | C | synonymous_variant | LOW | NA19004.hp1 | a0001 | a0001c0041 | a0001c0041t0012 | a0001c0041t0012g0317 | 1 | 394 | 0.0025 | 0 | c.282 others(4): Show |
p.Gly others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 19/20 | 3264/5493 | 2826/2997 | 942/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 561355 | G | A | synonymous_variant | LOW | HG01884.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0001a0002a0004others(2): Show | a0001c0042a0002c0034a0004c0027others(2): Show | a0001c0042t0002a0002c0034t0072a0004c0027t0078others(2): Show | a0001c0042t0002g0203a0002c0034t0072g0210a0004c0027t0078g0276others(2): Show | 5 | 394 | 0.0127 | 0 | c.290 others(4): Show |
p.Ala others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 20/20 | 3339/5493 | 2901/2997 | 967/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 561412 | G | A | synonymous_variant | LOW | HG01891.hp2 NA19030.hp1 |
a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0275a0006c0020t0002g0283 | 2 | 394 | 0.0051 | 0 | c.295 others(4): Show |
p.Lys others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 20/20 | 3396/5493 | 2958/2997 | 986/998 | chr12 | TogoVar | ||
B4GALNT3_chr12_454939_568509 | 561445 | G | A | synonymous_variant | LOW | HG00735.hp1 HG01258.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0010a0001c0039 | a0001c0010t0002a0001c0039t0002 | a0001c0010t0002g0018a0001c0010t0002g0098a0001c0010t0002g0118others(3): Show | 6 | 394 | 0.0152 | 0 | c.299 others(4): Show |
p.Thr others(6): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 20/20 | 3429/5493 | 2991/2997 | 997/998 | chr12 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 372700 | G | C | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(67): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0004a0002c0007others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(14): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0006others(67): Show | 70 | 184 | 0.3804 | 0 | c.294 others(3): Show |
p.Gly others(5): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 3/20 | 599/3750 | 294/3120 | 98/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373061 | C | T | synonymous_variant | LOW | HG03195.hp1 | a0004 | a0004c0038 | a0004c0038t0001 | a0004c0038t0001g0021 | 1 | 184 | 0.0054 | 0 | c.480 others(3): Show |
p.Pro others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 5/20 | 785/3750 | 480/3120 | 160/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373079 | A | G | synonymous_variant | LOW | HG02683.hp2 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0041 | 1 | 184 | 0.0054 | 0 | c.498 others(3): Show |
p.Gly others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 5/20 | 803/3750 | 498/3120 | 166/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373499 | G | A | synonymous_variant | LOW | HG03130.hp1 HG03486.hp2 NA19240.hp1 |
a0016a0017a0018 | a0016c0024a0017c0025a0018c0026 | a0016c0024t0001a0017c0025t0001a0018c0026t0004 | a0016c0024t0001g0012a0017c0025t0001g0110a0018c0026t0004g0042 | 3 | 184 | 0.0163 | 0 | c.687 others(3): Show |
p.Gln others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 7/20 | 992/3750 | 687/3120 | 229/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373759 | C | T | synonymous_variant | LOW | HG03130.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0012 | 1 | 184 | 0.0054 | 0 | c.714 others(3): Show |
p.Ala others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/20 | 1019/3750 | 714/3120 | 238/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373804 | C | T | synonymous_variant | LOW | HG03239.hp2 | a0002 | a0002c0033 | a0002c0033t0001 | a0002c0033t0001g0144 | 1 | 184 | 0.0054 | 0 | c.759 others(3): Show |
p.Arg others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/20 | 1064/3750 | 759/3120 | 253/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 373810 | G | A | synonymous_variant | LOW | HG02040.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0120 | 1 | 184 | 0.0054 | 0 | c.765 others(3): Show |
p.Ser others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/20 | 1070/3750 | 765/3120 | 255/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 375496 | C | T | synonymous_variant | LOW | HG00642.hp1 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0019 | 1 | 184 | 0.0054 | 0 | c.819 others(3): Show |
p.Val others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 9/20 | 1124/3750 | 819/3120 | 273/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 375700 | G | A | synonymous_variant | LOW | HG03834.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0072 | 1 | 184 | 0.0054 | 0 | c.912 others(3): Show |
p.Val others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 10/20 | 1217/3750 | 912/3120 | 304/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 376497 | C | G | synonymous_variant | LOW | HG01978.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0039 | 1 | 184 | 0.0054 | 0 | c.137 others(4): Show |
p.Gly others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 14/20 | 1679/3750 | 1374/3120 | 458/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 377139 | C | A | synonymous_variant | LOW | HG01243.hp1 HG01243.hp2 HG02258.hp1 others(7): Show |
a0002a0004 | a0002c0004a0004c0012a0004c0038others(1): Show | a0002c0004t0001a0002c0004t0002a0004c0012t0002others(2): Show | a0002c0004t0001g0047a0002c0004t0001g0048a0002c0004t0001g0113others(7): Show | 10 | 184 | 0.0544 | 0 | c.201 others(4): Show |
p.Leu others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 14/20 | 2321/3750 | 2016/3120 | 672/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 377139 | C | G | synonymous_variant | LOW | HG03490.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0108 | 1 | 184 | 0.0054 | 0 | c.201 others(4): Show |
p.Leu others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 14/20 | 2321/3750 | 2016/3120 | 672/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 379598 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(90): Show |
a0001a0002a0004others(12): Show | a0001c0003a0001c0021a0002c0002others(21): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(28): Show | a0001c0003t0001g0073a0001c0003t0001g0099a0001c0003t0001g0105others(90): Show | 93 | 184 | 0.5054 | 0 | c.238 others(4): Show |
p.Glu others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 15/20 | 2690/3750 | 2385/3120 | 795/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 380014 | G | C | synonymous_variant | LOW | NA19005.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0033 | 1 | 184 | 0.0054 | 0 | c.263 others(4): Show |
p.Leu others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 16/20 | 2942/3750 | 2637/3120 | 879/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 380315 | C | T | synonymous_variant | LOW | HG00323.hp2 HG00738.hp1 HG01070.hp1 others(3): Show |
a0001a0014 | a0001c0005a0014c0020 | a0001c0005t0002a0014c0020t0001 | a0001c0005t0002g0081a0001c0005t0002g0082a0001c0005t0002g0083others(3): Show | 6 | 184 | 0.0326 | 0 | c.273 others(4): Show |
p.Leu others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 18/20 | 3044/3750 | 2739/3120 | 913/1039 | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 380390 | C | T | synonymous_variant | LOW | HG02976.hp1 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0121 | 1 | 184 | 0.0054 | 0 | c.281 others(4): Show |
p.Ala others(6): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 18/20 | 3119/3750 | 2814/3120 | 938/1039 | chr11 | TogoVar | ||
B4GALT1_chr9_33105642_33172336 | 33135240 | G | A | synonymous_variant | LOW | HG00544.hp1 HG01257.hp1 HG02165.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014a0001c0002t0022others(3): Show | a0001c0002t0006g0178a0001c0002t0006g0179a0001c0002t0006g0182others(18): Show | 21 | 366 | 0.0574 | 0 | c.597 others(3): Show |
p.His others(6): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/6 | 764/4176 | 597/1197 | 199/398 | chr9 | TogoVar | ||
B4GALT2_chr1_43974210_43996168 | 43985041 | C | T | synonymous_variant | LOW | HG01261.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0055 | 1 | 406 | 0.0025 | 0 | c.726 others(3): Show |
p.Asp others(6): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 4/7 | 1080/2193 | 726/1119 | 242/372 | chr1 | TogoVar | ||
B4GALT2_chr1_43974210_43996168 | 43985311 | A | C | synonymous_variant | LOW | HG01934.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0009 | 1 | 406 | 0.0025 | 0 | c.774 others(3): Show |
p.Ser others(6): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 5/7 | 1128/2193 | 774/1119 | 258/372 | chr1 | TogoVar | ||
B4GALT2_chr1_43974210_43996168 | 43985562 | C | T | synonymous_variant | LOW | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(39): Show |
a0000a0001a0002 | a0000c0007a0001c0005a0002c0002 | a0000c0007t0003a0001c0005t0001a0001c0005t0002others(2): Show | a0000c0007t0003g0008a0001c0005t0001g0007a0001c0005t0002g0088others(18): Show | 42 | 406 | 0.1035 | 0 | c.909 others(3): Show |
p.Ile others(6): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 6/7 | 1263/2193 | 909/1119 | 303/372 | chr1 | TogoVar | ||
B4GALT3_chr1_161166310_161182507 | 161174011 | G | A | synonymous_variant | LOW | HG00099.hp1 HG01243.hp1 HG01433.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0014a0001c0002t0001g0017 | 30 | 374 | 0.0802 | 0 | c.528 others(3): Show |
p.Asn others(6): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 5/8 | 773/1933 | 528/1182 | 176/393 | chr1 | TogoVar | ||
B4GALT3_chr1_161166310_161182507 | 161175215 | C | T | synonymous_variant | LOW | HG00099.hp1 HG01106.hp1 HG01109.hp1 others(41): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0003 | a0001c0002t0001g0003a0001c0002t0001g0014a0001c0002t0001g0017others(5): Show | 44 | 374 | 0.1177 | 0 | c.267 others(3): Show |
p.Ser others(5): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 4/8 | 512/1933 | 267/1182 | 89/393 | chr1 | TogoVar | ||
B4GALT3_chr1_161166310_161182507 | 161175863 | C | A | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0042 | 1 | 374 | 0.0027 | 0 | c.198 others(3): Show |
p.Gly others(5): Show |
B4GALT3 | ENSG00000158850.15 | transcript | ENST00000319769.10 | protein_coding | 3/8 | 443/1933 | 198/1182 | 66/393 | chr1 | TogoVar | ||
B4GALT4_chr3_119206742_119245878 | 119224213 | G | A | synonymous_variant | LOW | HG01884.hp2 HG02572.hp2 HG02717.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030a0001c0004t0001g0091 | 3 | 436 | 0.0069 | 0 | c.519 others(3): Show |
p.Leu others(6): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 5/8 | 911/2234 | 519/1035 | 173/344 | chr3 | TogoVar | ||
B4GALT4_chr3_119206742_119245878 | 119229848 | G | A | splice_region_variant others(1): Show |
LOW | NA18975.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0087 | 1 | 436 | 0.0023 | 0 | c.252 others(3): Show |
p.Leu others(5): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 3/8 | 644/2234 | 252/1035 | 84/344 | chr3 | TogoVar | ||
B4GALT4_chr3_119206742_119245878 | 119229869 | G | A | synonymous_variant | LOW | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(80): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0003t0009others(3): Show | a0001c0003t0001g0038a0001c0003t0001g0113a0001c0003t0001g0130others(28): Show | 83 | 436 | 0.1904 | 0 | c.231 others(3): Show |
p.Cys others(5): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 3/8 | 623/2234 | 231/1035 | 77/344 | chr3 | TogoVar | ||
B4GALT4_chr3_119206742_119245878 | 119229998 | G | A | synonymous_variant | LOW | HG03041.hp2 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0005a0001c0009 | a0001c0005t0010a0001c0009t0002 | a0001c0005t0010g0035a0001c0005t0010g0055a0001c0009t0002g0096 | 4 | 436 | 0.0092 | 0 | c.102 others(3): Show |
p.Phe others(5): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 3/8 | 494/2234 | 102/1035 | 34/344 | chr3 | TogoVar | ||
B4GALT5_chr20_49627945_49718878 | 49639776 | G | A | synonymous_variant | LOW | HG01167.hp1 HG02723.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0019a0001c0007t0036others(1): Show | a0001c0007t0002g0061a0001c0007t0019g0078a0001c0007t0019g0080others(2): Show | 5 | 364 | 0.0137 | 0 | c.819 others(3): Show |
p.Gly others(6): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 7/9 | 1007/4722 | 819/1167 | 273/388 | chr20 | TogoVar | ||
B4GALT5_chr20_49627945_49718878 | 49640612 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(287): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(287): Show | 290 | 364 | 0.7967 | 0 | c.660 others(3): Show |
p.Glu others(6): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 6/9 | 848/4722 | 660/1167 | 220/388 | chr20 | TogoVar | ||
B4GALT5_chr20_49627945_49718878 | 49642497 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(129): Show |
a0001a0003 | a0001c0002a0001c0005a0003c0006 | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(15): Show | a0001c0002t0001g0206a0001c0002t0001g0207a0001c0002t0001g0212others(129): Show | 132 | 364 | 0.3626 | 0 | c.577 others(3): Show |
p.Leu others(6): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 5/9 | 765/4722 | 577/1167 | 193/388 | chr20 | TogoVar | ||
B4GALT5_chr20_49627945_49718878 | 49656596 | G | A | synonymous_variant | LOW | HG02559.hp2 HG02630.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0022a0001c0008t0009g0023a0001c0008t0009g0076others(2): Show | 5 | 364 | 0.0137 | 0 | c.222 others(3): Show |
p.Ala others(5): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 2/9 | 410/4722 | 222/1167 | 74/388 | chr20 | TogoVar | ||
B4GALT5_chr20_49627945_49718878 | 49713673 | C | T | synonymous_variant | LOW | NA18946.hp2 NA18947.hp1 NA18950.hp1 others(15): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0051 | a0001c0005t0001g0002a0001c0005t0001g0003a0001c0005t0001g0004others(15): Show | 18 | 364 | 0.0495 | 0 | c.18G others(2): Show |
p.Gly others(4): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/9 | 206/4722 | 18/1167 | 6/388 | chr20 | TogoVar | ||
B4GALT6_chr18_31617246_31689581 | 31626324 | T | C | synonymous_variant | LOW | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0167 | 1 | 306 | 0.0033 | 0 | c.960 others(3): Show |
p.Ser others(6): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 8/9 | 1115/4672 | 960/1149 | 320/382 | chr18 | TogoVar | ||
B4GALT6_chr18_31617246_31689581 | 31631066 | A | G | synonymous_variant | LOW | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0068 | 1 | 306 | 0.0033 | 0 | c.669 others(3): Show |
p.Cys others(6): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/9 | 824/4672 | 669/1149 | 223/382 | chr18 | TogoVar | ||
B4GALT7_chr5_177595132_177615330 | 177604347 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(322): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(124): Show | 325 | 458 | 0.7096 | 0 | c.219 others(3): Show |
p.Arg others(5): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 2/6 | 298/1698 | 219/984 | 73/327 | chr5 | TogoVar | ||
B4GALT7_chr5_177595132_177615330 | 177604350 | C | G | synonymous_variant | LOW | HG01257.hp1 HG01261.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0004 | 2 | 458 | 0.0044 | 0 | c.222 others(3): Show |
p.Ala others(5): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 2/6 | 301/1698 | 222/984 | 74/327 | chr5 | TogoVar |