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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AXIN1_chr16_282440_357723 | 344429 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(26): Show | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 others(73): Show |
77 | 378 | 0.2037 | 3 | c.878 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351609 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00735.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0003t0007others(3): Show | a0001c0001t0002g0006 a0001c0001t0010g0034 a0001c0003t0007g0266 others(9): Show |
12 | 378 | 0.0318 | 3 | c.-82 others(18): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351629 | A | AGAG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(31): Show | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 others(80): Show |
84 | 378 | 0.2222 | 3 | c.-82 others(18): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65527110 | C | CAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0010others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0009others(8): Show | a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0064 others(28): Show |
36 | 402 | 0.0896 | 3 | c.*28 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1452 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00673.hp2 others(29): Show |
a0001a0002a0011others(2): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0001g0020 a0001c0002t0001g0069 a0001c0002t0001g0070 others(26): Show |
32 | 402 | 0.0796 | 3 | c.106 others(20): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65562955 | C | CAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02015.hp2 HG02735.hp2 others(6): Show |
a0001a0002a0016 | a0001c0004a0001c0005a0001c0010others(2): Show | a0001c0004t0002a0001c0004t0003a0001c0005t0001others(3): Show | a0001c0004t0002g0209 a0001c0004t0003g0010 a0001c0004t0003g0011 others(6): Show |
9 | 402 | 0.0224 | 3 | c.-16 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1308 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65562972 | A | AAAC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01168.hp1 others(7): Show |
a0002 | a0002c0001a0002c0007a0002c0008 | a0002c0001t0002a0002c0007t0001a0002c0008t0001 | a0002c0001t0002g0002 a0002c0001t0002g0023 a0002c0001t0002g0027 others(7): Show |
10 | 402 | 0.0249 | 3 | c.-16 others(14): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 1325 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41231949 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01167.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0004g0014 a0001c0001t0004g0152 a0001c0001t0004g0153 others(31): Show |
35 | 314 | 0.1115 | 3 | c.783 others(18): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41236331 | T | TAAA | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp2 HG04115.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0185 others(4): Show |
7 | 314 | 0.0223 | 3 | c.784 others(20): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41247010 | T | TCAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0016 a0001c0001t0001g0132 a0001c0001t0002g0003 others(122): Show |
136 | 314 | 0.4331 | 3 | c.153 others(22): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AZGP1_chr7_99961730_99981031 | 99963942 | T | TATC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(141): Show |
405 | 432 | 0.9375 | 3 | c.*30 others(14): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2787 | chr7 | TogoVar | |||||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0099 others(20): Show |
78 | 432 | 0.1806 | 3 | c.338 others(18): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZGP1_chr7_99961730_99981031 | 99970967 | C | CCAG | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show |
5 | 432 | 0.0116 | 3 | c.337 others(18): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102834595 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0016 a0001c0001t0002g0219 a0001c0001t0002g0220 others(99): Show |
123 | 380 | 0.3237 | 3 | c.666 others(16): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 7/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102841805 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01361.hp2 others(40): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0020a0001c0003t0021 | a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0013 others(21): Show |
43 | 380 | 0.1132 | 3 | c.102 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102854594 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG02300.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0005 | a0001c0001t0001g0059 a0001c0002t0004g0018 a0001c0002t0004g0270 others(5): Show |
10 | 380 | 0.0263 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102854607 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(45): Show |
53 | 380 | 0.1395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102856064 | T | TCAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0012others(4): Show | a0001c0002t0004g0007 a0001c0002t0004g0018 a0001c0002t0004g0035 others(53): Show |
64 | 380 | 0.1684 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102856084 | G | GTTT | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0002 a0001c0001t0003g0141 a0001c0001t0003g0142 others(3): Show |
15 | 380 | 0.0395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102856093 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01123.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 a0001c0001t0006g0151 a0001c0001t0006g0152 others(11): Show |
15 | 380 | 0.0395 | 3 | c.-96 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102859130 | T | TAGG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(206): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0133 others(161): Show |
209 | 380 | 0.5500 | 3 | c.-23 others(20): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833243 | G | GATA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02132.hp1 HG02257.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0015 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0003t0001g0015 others(1): Show |
5 | 391 | 0.0128 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1226 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833266 | T | TAAG | downstream_gene_variant | MODIFIER | HG03927.hp1 NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0037 |
3 | 391 | 0.0077 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1249 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833269 | T | TAAG | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02976.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0017 a0001c0004t0001g0021 |
3 | 391 | 0.0077 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1252 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833272 | T | TAAG | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG01496.hp2 others(5): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0005 others(4): Show |
8 | 391 | 0.0205 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833275 | T | TAAG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG02280.hp1 others(5): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0004t0001g0025 others(2): Show |
8 | 391 | 0.0205 | 3 | c.*13 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0002t0001g0030 others(2): Show |
7 | 391 | 0.0179 | 3 | c.*14 others(14): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721696 | G | GCAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0002g0002 others(7): Show |
34 | 385 | 0.0883 | 3 | c.*41 others(14): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3552 | chr15 | TogoVar | |||||||
B3GALNT1_chr3_161078883_161110349 | 161092763 | C | CTTT | intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0036 a0001c0001t0001g0095 a0001c0001t0001g0105 others(3): Show |
10 | 400 | 0.0250 | 3 | c.-34 others(20): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235448220 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01361.hp1 others(25): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0018others(5): Show | a0001c0002t0006g0281 a0001c0002t0006g0285 a0001c0002t0006g0304 others(24): Show |
28 | 344 | 0.0814 | 3 | c.*19 others(14): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 12/12 | 1985 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235455137 | A | ATTG | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01109.hp1 others(35): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0014others(11): Show | a0001c0002t0006g0281 a0001c0002t0006g0285 a0001c0002t0006g0304 others(33): Show |
38 | 344 | 0.1105 | 3 | c.115 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235464332 | T | TAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(52): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0013 others(234): Show |
242 | 344 | 0.7035 | 3 | c.841 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474988 | T | TATA | intron_variant | MODIFIER | HG01081.hp1 HG01358.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0028 | a0001c0001t0001g0197 a0001c0002t0003g0266 a0001c0002t0003g0271 others(5): Show |
8 | 344 | 0.0233 | 3 | c.652 others(20): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235505693 | G | GTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0001t0040a0001c0001t0048others(17): Show | a0001c0001t0035g0093 a0001c0001t0040g0106 a0001c0001t0048g0105 others(62): Show |
65 | 344 | 0.1890 | 3 | c.-14 others(14): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1242 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167291987 | C | CTTT | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02257.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0001g0015 a0001c0001t0004g0013 a0001c0001t0014g0017 others(4): Show |
7 | 118 | 0.0593 | 3 | c.-18 others(14): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1013 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167330194 | C | CCAG | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(2): Show |
5 | 118 | 0.0424 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167339725 | A | ATAT | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(2): Show | a0001c0001t0002g0094 a0001c0001t0010g0092 a0001c0001t0018g0093 others(2): Show |
5 | 118 | 0.0424 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167389923 | A | AAAC | intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0064 a0001c0001t0006g0106 a0001c0001t0007g0100 others(1): Show |
4 | 118 | 0.0339 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167411224 | T | TAAC | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0042a0001c0001t0047 | a0001c0001t0019g0020 a0001c0001t0042g0074 a0001c0001t0047g0019 |
3 | 118 | 0.0254 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167453581 | C | CTGT | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp2 HG01891.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(25): Show |
28 | 118 | 0.2373 | 3 | c.-51 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167486862 | A | AAGT | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0094 others(7): Show |
10 | 118 | 0.0848 | 3 | c.-51 others(22): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167500583 | G | GATA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0094 others(8): Show |
11 | 118 | 0.0932 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167500635 | G | GAAA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0002g0094 a0001c0001t0015g0079 a0001c0001t0018g0093 others(3): Show |
6 | 118 | 0.0509 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167500635 | G | GGAA | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(1): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0011g0050 others(2): Show |
5 | 118 | 0.0424 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167518019 | T | TACA | intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0076 a0001c0001t0004g0014 a0001c0001t0020g0063 |
3 | 118 | 0.0254 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167537825 | C | CTTT | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062 a0001c0001t0002g0029 a0001c0001t0002g0049 others(14): Show |
17 | 118 | 0.1441 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167545023 | C | CTTT | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0062 others(12): Show |
15 | 118 | 0.1271 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563651 | C | CAGG | intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0003 a0001c0001t0002g0029 a0001c0001t0018g0060 others(1): Show |
4 | 118 | 0.0339 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167563652 | G | GGGC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0023 others(103): Show |
106 | 118 | 0.8983 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563652 | G | GGGT | intron_variant | MODIFIER | HG00673.hp2 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0078 a0001c0001t0004g0014 a0001c0001t0020g0063 |
3 | 118 | 0.0254 | 3 | c.-41 others(24): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |