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 | 102867217 | CAA | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0007g0185others(6): Show | 9 | 380 | 0.0237 | -2 | c.-36 others(13): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3055 | chr8 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33091549 | GTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp2 others(140): Show |
a0001a0004a0005 | a0001c0001a0001c0009a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0049a0001c0001t0001g0071a0001c0001t0001g0118others(96): Show | 143 | 322 | 0.4441 | -2 | c.280 others(17): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33101496 | ATT | A | intron_variant | MODIFIER | HG01256.hp2 HG01515.hp2 HG01891.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0013a0004c0004t0004 | a0001c0001t0002g0058a0001c0001t0002g0059a0001c0001t0002g0067others(6): Show | 12 | 322 | 0.0373 | -2 | c.102 others(21): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33128203 | CAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02055.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0012a0004c0004t0004 | a0001c0001t0012g0022a0004c0004t0004g0012a0004c0004t0004g0023others(6): Show | 14 | 322 | 0.0435 | -2 | c.*80 others(13): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 4712 | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | ATG | A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00673.hp2 others(69): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0035a0001c0002t0001g0002a0001c0002t0001g0006others(14): Show | 72 | 391 | 0.1841 | -2 | c.360 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B2M_chr15_44706517_44723145 | 44712999 | GAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0002g0002others(9): Show | 48 | 385 | 0.1247 | -2 | c.67+ others(17): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
B2M_chr15_44706517_44723145 | 44721362 | GAC | G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0026others(1): Show | 10 | 385 | 0.0260 | -2 | c.*37 others(13): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161084138 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028a0001c0001t0005g0029a0001c0001t0005g0044others(4): Show | 12 | 400 | 0.0300 | -2 | c.*16 others(13): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 5/5 | 1619 | chr3 | TogoVar | |||||
B3GALNT1_chr3_161078883_161110349 | 161096890 | CAG | C | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0130a0001c0001t0006g0018a0001c0001t0006g0099others(1): Show | 7 | 400 | 0.0175 | -2 | c.-35 others(19): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
B3GALNT1_chr3_161078883_161110349 | 161099809 | AAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0139others(1): Show | 11 | 400 | 0.0275 | -2 | c.-35 others(19): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235443185 | CAT | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020 | a0001c0001t0016g0098a0001c0001t0016g0102a0001c0001t0020g0099others(1): Show | 4 | 344 | 0.0116 | -2 | c.*70 others(13): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4004 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235460454 | TAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(2): Show | a0001c0001t0001g0128a0001c0001t0001g0154a0001c0001t0001g0162others(8): Show | 11 | 344 | 0.0320 | -2 | c.842 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235461507 | GTT | G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01106.hp2 others(32): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0025a0001c0001t0040a0001c0001t0048others(13): Show | a0001c0001t0025g0104a0001c0001t0040g0106a0001c0001t0048g0105others(30): Show | 35 | 344 | 0.1017 | -2 | c.842 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235468450 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(132): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0013others(130): Show | 135 | 344 | 0.3924 | -2 | c.762 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CAT | C | intron_variant | MODIFIER | HG01496.hp1 HG01952.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0002t0003 | a0001c0001t0009g0072a0001c0001t0012g0089a0001c0002t0003g0294 | 3 | 344 | 0.0087 | -2 | c.652 others(19): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01433.hp1 others(11): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0003a0001c0002t0006a0001c0002t0018others(3): Show | a0001c0002t0003g0259a0001c0002t0003g0269a0001c0002t0003g0270others(11): Show | 14 | 344 | 0.0407 | -2 | c.556 others(17): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235488692 | CAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01168.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(15): Show | a0001c0001t0001g0112a0001c0001t0001g0122a0001c0001t0001g0123others(27): Show | 31 | 344 | 0.0901 | -2 | c.361 others(17): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167288538 | GAC | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0043a0001c0001t0002g0049a0001c0001t0002g0052others(18): Show | 21 | 118 | 0.1780 | -2 | c.-53 others(13): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4462 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167289434 | TTG | T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01258.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0032others(31): Show | 34 | 118 | 0.2881 | -2 | c.-44 others(13): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3566 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167295768 | CGT | C | intron_variant | MODIFIER | HG01261.hp1 HG02040.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0001a0001c0001t0003g0059a0001c0001t0004g0013others(3): Show | 6 | 118 | 0.0509 | -2 | c.-51 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167296285 | CTT | C | intron_variant | MODIFIER | HG03209.hp2 NA19030.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037a0001c0001t0038 | a0001c0001t0003g0002a0001c0001t0037g0044a0001c0001t0038g0025 | 3 | 118 | 0.0254 | -2 | c.-51 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303644 | TAC | T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG00741.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0032a0001c0001t0001g0046a0001c0001t0001g0068others(34): Show | 37 | 118 | 0.3136 | -2 | 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 | 167304648 | GGA | G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0002g0010a0001c0001t0002g0011others(6): Show | 9 | 118 | 0.0763 | -2 | 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 | 167304723 | AAG | A | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0070a0001c0001t0015g0069 | 2 | 118 | 0.0170 | -2 | 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 | 167316075 | TTA | T | intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167337349 | TCA | T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167340313 | GAA | G | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0024others(2): Show | a0001c0001t0008g0005a0001c0001t0019g0020a0001c0001t0024g0091others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167342589 | CAA | C | intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167346034 | ATT | A | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019a0001c0001t0045others(2): Show | a0001c0001t0004g0013a0001c0001t0004g0014a0001c0001t0019g0020others(3): Show | 6 | 118 | 0.0509 | -2 | 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 | 167351854 | CTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(1): Show | 4 | 118 | 0.0339 | -2 | c.-51 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167354347 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0001t0001g0062others(65): Show | 68 | 118 | 0.5763 | -2 | 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 | 167361212 | GTT | G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0062others(42): Show | 45 | 118 | 0.3814 | -2 | 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 | 167364163 | CAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0062a0001c0001t0001g0068others(67): Show | 70 | 118 | 0.5932 | -2 | 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 | 167365585 | TAC | T | intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0002g0010a0001c0001t0002g0018a0001c0001t0002g0070others(16): Show | 19 | 118 | 0.1610 | -2 | 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 | 167369061 | TTG | T | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0002g0049a0001c0001t0007g0042a0001c0001t0010g0008others(4): Show | 7 | 118 | 0.0593 | -2 | 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 | 167389947 | GAA | G | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0002g0018a0001c0001t0002g0094a0001c0001t0010g0092others(3): Show | 6 | 118 | 0.0509 | -2 | 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 | 167396517 | AAT | A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01346.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0032a0001c0001t0001g0043others(9): Show | 12 | 118 | 0.1017 | -2 | 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 | 167396534 | ATG | A | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0098a0001c0001t0001g0105a0001c0001t0001g0108others(25): Show | 28 | 118 | 0.2373 | -2 | 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 | 167399295 | CTG | C | intron_variant | MODIFIER | HG03453.hp1 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0003a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | -2 | 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 | 167407035 | TAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023others(89): Show | 92 | 118 | 0.7797 | -2 | 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 | 167420111 | ATT | A | intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0014a0001c0001t0020g0063 | 2 | 118 | 0.0170 | -2 | 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 | 167426718 | TAC | T | intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0002g0018a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167429280 | CAA | C | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0002g0070a0001c0001t0010g0092a0001c0001t0015g0069others(1): Show | 4 | 118 | 0.0339 | -2 | 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 | 167435954 | AAC | A | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0098a0001c0001t0001g0108a0001c0001t0002g0094others(22): Show | 25 | 118 | 0.2119 | -2 | 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 | 167448082 | CAT | C | intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0002g0018a0001c0001t0004g0014a0001c0001t0010g0092others(3): Show | 6 | 118 | 0.0509 | -2 | c.-51 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167450223 | ATT | A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0018a0001c0001t0004g0014a0001c0001t0010g0092others(2): Show | 5 | 118 | 0.0424 | -2 | 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 | 167454029 | GCT | G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0030 | a0001c0001t0002g0018a0001c0001t0010g0092a0001c0001t0030g0072 | 3 | 118 | 0.0254 | -2 | 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 | 167488973 | CAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(65): Show | 68 | 118 | 0.5763 | -2 | c.-51 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167495326 | CTT | C | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0076a0001c0001t0004g0014a0001c0001t0015g0079others(4): Show | 7 | 118 | 0.0593 | -2 | c.-41 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167501718 | CAA | C | intron_variant | MODIFIER | NA18948.hp1 NA19007.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0076a0001c0001t0004g0065a0001c0001t0013g0066others(1): Show | 4 | 118 | 0.0339 | -2 | c.-41 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |