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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZIN1_chr8_102821308_102869163 | 102848323 | CAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00741.hp1 others(55): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0019others(3): Show | a0001c0001t0002g0188a0001c0001t0007g0029a0001c0001t0007g0030others(34): Show | 58 | 380 | 0.1526 | -4 | c.-95 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102867217 | CAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0180a0001c0002t0004g0007others(5): Show | 8 | 380 | 0.0211 | -4 | c.-36 others(15): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3055 | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 823120 | AAAAC | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01069.hp1 others(51): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0074a0001c0001t0001g0076others(12): Show | 54 | 391 | 0.1381 | -4 | c.-47 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4716 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | ATGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(77): Show |
a0001a0003a0008 | a0001c0002a0001c0003a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0016others(12): Show | 80 | 391 | 0.2046 | -4 | c.360 others(19): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZU1_chr19_822837_837018 | 833316 | AGAAG | A | downstream_gene_variant | MODIFIER | NA18944.hp1 NA18947.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0004g0001a0001c0002t0001g0056 | 3 | 391 | 0.0077 | -4 | c.*14 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1299 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835477 | CGCGT | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02523.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0012a0001c0002t0001g0016others(1): Show | 5 | 391 | 0.0128 | -4 | c.*36 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3460 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835484 | GTGCA | G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0048a0001c0002t0002g0008a0001c0003t0001g0002others(2): Show | 7 | 391 | 0.0179 | -4 | c.*36 others(15): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3467 | chr19 | TogoVar | ||||||
B2M_chr15_44706517_44723145 | 44721362 | GACAC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(2): Show | 15 | 385 | 0.0390 | -4 | c.*37 others(15): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161082876 | CTTGT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0002g0002others(35): Show | 106 | 400 | 0.2650 | -4 | c.*28 others(15): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 1006 | chr3 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161089324 | TCTTA | T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0015 | a0001c0001t0005g0028a0001c0001t0005g0029a0001c0001t0005g0044others(7): Show | 16 | 400 | 0.0400 | -4 | c.-34 others(21): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235455720 | CCAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030a0001c0001t0044 | a0001c0001t0004g0239a0001c0001t0004g0240a0001c0001t0004g0244others(6): Show | 9 | 344 | 0.0262 | -4 | c.102 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235457111 | AAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(201): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0013others(198): Show | 204 | 344 | 0.5930 | -4 | c.102 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATAT | C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0032 | a0001c0001t0002g0020a0001c0001t0002g0040a0001c0001t0002g0043others(13): Show | 16 | 344 | 0.0465 | -4 | c.652 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02155.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015a0001c0002t0027others(2): Show | a0001c0002t0003g0261a0001c0002t0003g0263a0001c0002t0003g0264others(7): Show | 10 | 344 | 0.0291 | -4 | c.556 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167288538 | GACAC | G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0032others(16): Show | 19 | 118 | 0.1610 | -4 | c.-53 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4462 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167289434 | TTGTG | T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01169.hp1 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0002g0010others(21): Show | 24 | 118 | 0.2034 | -4 | c.-44 others(15): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3566 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167295768 | CGTGT | C | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0046a0001c0001t0002g0049a0001c0001t0002g0052others(12): Show | 15 | 118 | 0.1271 | -4 | c.-51 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167303644 | TACAC | T | intron_variant | MODIFIER | HG02683.hp2 HG03453.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0108a0001c0001t0003g0112others(1): Show | 4 | 118 | 0.0339 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167304723 | AAGAG | A | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0047a0001c0001t0048 | a0001c0001t0019g0020a0001c0001t0047g0019a0001c0001t0048g0021 | 3 | 118 | 0.0254 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167307969 | AAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0062others(58): Show | 61 | 118 | 0.5170 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167326280 | ATTGT | A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0046others(69): Show | 72 | 118 | 0.6102 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167335226 | AAAAC | A | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(5): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(6): Show | 9 | 118 | 0.0763 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167352732 | AAAAC | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0046others(83): Show | 86 | 118 | 0.7288 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167358636 | CTTTA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0062others(70): Show | 73 | 118 | 0.6186 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167365585 | TACAC | T | intron_variant | MODIFIER | HG03098.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0044 | a0001c0001t0008g0104a0001c0003t0044g0115 | 2 | 118 | 0.0170 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167369061 | TTGTG | T | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG03654.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0043a0001c0001t0002g0052a0001c0001t0015g0079others(1): Show | 4 | 118 | 0.0339 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167369895 | CTTAT | C | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0018a0001c0001t0045others(1): Show | a0001c0001t0002g0073a0001c0001t0018g0060a0001c0001t0045g0045others(1): Show | 4 | 118 | 0.0339 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167396534 | ATGTG | A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0046others(40): Show | 43 | 118 | 0.3644 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167402629 | CATAA | C | intron_variant | MODIFIER | HG03453.hp1 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0003a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167408015 | GACAC | G | intron_variant | MODIFIER | HG02109.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0039 | a0001c0001t0011g0050a0001c0001t0039g0048 | 2 | 118 | 0.0170 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167410490 | CAAAA | C | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02257.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0032others(20): Show | 23 | 118 | 0.1949 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167412131 | CAAAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023others(89): Show | 92 | 118 | 0.7797 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167429436 | GAAAC | G | intron_variant | MODIFIER | HG03471.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024a0001c0001t0005g0051 | 2 | 118 | 0.0170 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167460012 | CATTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG01346.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0023others(37): Show | 40 | 118 | 0.3390 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167467831 | TATTC | T | intron_variant | MODIFIER | HG00673.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0047 | a0001c0001t0019g0020a0001c0001t0047g0019 | 2 | 118 | 0.0170 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167469797 | AATAC | A | intron_variant | MODIFIER | HG02258.hp1 NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0028 | a0001c0001t0002g0094a0001c0001t0018g0093a0001c0001t0028g0056 | 3 | 118 | 0.0254 | -4 | c.-51 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167508782 | AAAAG | A | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(7): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0094others(9): Show | 12 | 118 | 0.1017 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512620 | ACGTG | A | intron_variant | MODIFIER | HG01346.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0046a0001c0001t0048g0021 | 2 | 118 | 0.0170 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167516968 | ATATG | A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(84): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(84): Show | 87 | 118 | 0.7373 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167521968 | ATGTG | A | intron_variant | MODIFIER | HG02109.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0024a0001c0001t0016g0077 | 2 | 118 | 0.0170 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167521982 | GTGTA | G | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0062a0001c0001t0002g0052a0001c0001t0002g0070others(7): Show | 10 | 118 | 0.0848 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167543280 | TAAAC | T | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0037 | a0001c0001t0002g0029a0001c0001t0021g0035a0001c0001t0037g0044 | 3 | 118 | 0.0254 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167548685 | AGTGT | A | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0032others(1): Show | a0001c0001t0002g0094a0001c0001t0018g0093a0001c0001t0032g0107others(1): Show | 4 | 118 | 0.0339 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167550103 | CAGTT | C | intron_variant | MODIFIER | HG00673.hp2 NA19007.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0020g0063 | 3 | 118 | 0.0254 | -4 | c.-41 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167583676 | TCATA | T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0078a0001c0001t0001g0081others(19): Show | 22 | 118 | 0.1864 | -4 | c.-40 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167588818 | TTTCC | T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0085others(29): Show | 32 | 118 | 0.2712 | -4 | c.-40 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167625942 | CATAT | C | intron_variant | MODIFIER | HG00558.hp2 HG02109.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0113a0001c0001t0003g0002a0001c0001t0004g0061others(3): Show | 6 | 118 | 0.0509 | -4 | c.-40 others(25): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167639601 | TTAGA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(79): Show | 82 | 118 | 0.6949 | -4 | c.-40 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167645553 | ATTTT | A | intron_variant | MODIFIER | HG02040.hp1 HG02647.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0024 | a0001c0001t0002g0049a0001c0001t0004g0013a0001c0001t0004g0064others(2): Show | 5 | 118 | 0.0424 | -4 | c.-40 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167651271 | TGCGC | T | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0023a0001c0001t0003g0002a0001c0001t0012g0075others(3): Show | 6 | 118 | 0.0509 | -4 | c.-35 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |