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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVL9_chr7_32490489_32593726 | 32566470 | A | AAATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(268): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(112): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(268): Show |
271 | 328 | 0.8262 | 6 | c.121 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32574243 | A | ACACCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(268): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(112): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(268): Show |
271 | 328 | 0.8262 | 6 | c.157 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579388 | A | ATATATG | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01358.hp1 others(24): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0015a0001c0004t0025a0001c0004t0039others(10): Show | a0001c0004t0015g0322 a0001c0004t0025g0123 a0001c0004t0039g0124 others(24): Show |
27 | 284 | 0.0951 | 6 | c.168 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579403 | T | TATGTTA | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01358.hp1 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0012a0002c0003t0018others(3): Show | a0002c0003t0005g0116 a0002c0003t0005g0135 a0002c0003t0005g0138 others(17): Show |
20 | 325 | 0.0615 | 6 | c.168 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579498 | T | TATAATA | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01099.hp1 others(33): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0005a0002c0003t0009a0002c0003t0012others(15): Show | a0002c0003t0005g0135 a0002c0003t0005g0138 a0002c0003t0005g0140 others(33): Show |
36 | 325 | 0.1108 | 6 | c.168 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGT | intron_variant | MODIFIER | HG00733.hp2 HG01123.hp2 HG01175.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0024 others(6): Show |
11 | 181 | 0.0608 | 6 | c.287 others(21): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TTGTGTA | upstream_gene_variant | MODIFIER | HG01261.hp1 HG03098.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0017 | a0001c0001t0001g0109 a0001c0004t0017g0019 |
3 | 113 | 0.0265 | 6 | c.-51 others(17): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0006g0006 others(6): Show |
11 | 121 | 0.0909 | 6 | c.-51 others(17): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AVP_chr20_3077556_3089724 | 3088824 | C | CTTTGTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 others(3): Show |
19 | 431 | 0.0441 | 6 | c.-41 others(17): Show |
AVP | ENSG00000101200.5 | transcript | ENST00000380293.3 | protein_coding | 4101 | chr20 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179400600 | T | TAAAAAA | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG02970.hp2 others(4): Show |
a0006a0024 | a0006c0009a0024c0034 | a0006c0009t0001a0024c0034t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(4): Show |
7 | 169 | 0.0414 | 6 | c.110 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179457990 | C | CTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0006a0010a0024 | a0006c0009a0010c0016a0024c0034 | a0006c0009t0001a0010c0016t0001a0024c0034t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(6): Show |
9 | 178 | 0.0506 | 6 | c.179 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATCTGTG | intron_variant | MODIFIER | HG01928.hp1 HG02165.hp1 NA18962.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 a0001c0002t0001g0125 a0001c0002t0001g0127 others(4): Show |
7 | 113 | 0.0619 | 6 | c.238 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp2 others(23): Show |
a0001a0008a0012 | a0001c0002a0001c0003a0001c0007others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(3): Show | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0108 others(23): Show |
26 | 132 | 0.1970 | 6 | c.238 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179511393 | G | GGGGTGT | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(4): Show |
a0006a0010 | a0006c0009a0010c0016 | a0006c0009t0001a0010c0016t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(4): Show |
7 | 91 | 0.0769 | 6 | c.249 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179511393 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(74): Show |
a0001a0002a0011others(3): Show | a0001c0002a0001c0007a0001c0011others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(74): Show |
77 | 161 | 0.4783 | 6 | c.249 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179525808 | T | TATATAC | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02027.hp2 others(13): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0015t0001 | a0001c0003t0001g0051 a0001c0003t0001g0064 a0001c0003t0001g0067 others(13): Show |
16 | 255 | 0.0627 | 6 | c.261 others(23): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285790 | C | CCCCCTG | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0011 | a0001c0003t0013a0001c0003t0036a0001c0004t0032others(1): Show | a0001c0003t0013g0060 a0001c0003t0036g0074 a0001c0004t0032g0279 others(1): Show |
5 | 374 | 0.0134 | 6 | c.*23 others(17): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1649 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285925 | T | TCCCAAC | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG01175.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0282 a0001c0001t0001g0315 a0001c0001t0001g0339 others(13): Show |
16 | 367 | 0.0436 | 6 | c.*21 others(17): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1514 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285983 | T | TCCCAAC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0340 a0001c0001t0002g0007 a0001c0001t0002g0009 others(49): Show |
53 | 311 | 0.1704 | 6 | c.*21 others(17): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 286000 | T | TCCCAAC | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(4): Show |
a0002 | a0002c0006a0002c0026 | a0002c0006t0001a0002c0006t0024a0002c0026t0024 | a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0232 others(4): Show |
7 | 376 | 0.0186 | 6 | c.*21 others(17): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1439 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351132 | C | CAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0031a0001c0003t0003a0001c0003t0011others(12): Show | a0001c0001t0031g0057 a0001c0003t0003g0045 a0001c0003t0003g0047 others(20): Show |
24 | 282 | 0.0851 | 6 | c.-82 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65530879 | C | CTTCTGA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0005a0001c0010t0005 | a0001c0002t0001g0169 a0001c0002t0005g0280 a0001c0002t0005g0281 others(3): Show |
6 | 400 | 0.0150 | 6 | c.240 others(23): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 10/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65554252 | T | TTCCTCC | intron_variant | MODIFIER | HG01099.hp2 HG02922.hp1 HG03516.hp2 others(1): Show |
a0001a0007 | a0001c0005a0001c0010a0007c0015 | a0001c0005t0001a0001c0010t0001a0007c0015t0011 | a0001c0005t0001g0250 a0001c0010t0001g0251 a0007c0015t0011g0209 others(1): Show |
4 | 398 | 0.0101 | 6 | c.815 others(23): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65564088 | T | TCACACA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02056.hp2 HG02071.hp1 others(23): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0001a0001c0004t0003a0001c0005t0001others(5): Show | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 others(21): Show |
26 | 135 | 0.1926 | 6 | c.-27 others(17): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGTGT | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02293.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0014a0001c0001t0037a0003c0008t0014 | a0001c0001t0014g0047 a0001c0001t0014g0048 a0001c0001t0037g0031 others(1): Show |
4 | 230 | 0.0174 | 6 | c.203 others(23): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0011a0001c0001t0023a0001c0001t0052others(2): Show | a0001c0001t0011g0132 a0001c0001t0011g0205 a0001c0001t0011g0212 others(10): Show |
13 | 60 | 0.2167 | 6 | c.*42 others(15): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41261990 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0180 a0001c0001t0002g0192 a0001c0001t0002g0217 others(1): Show |
4 | 248 | 0.0161 | 6 | c.*20 others(17): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 225 | chr19 | TogoVar | |||||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(4): Show |
16 | 33 | 0.4848 | 6 | c.338 others(21): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01168.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0018 others(13): Show |
26 | 139 | 0.1871 | 6 | c.-35 others(17): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | |||||||
AZI2_chr3_28316047_28353824 | 28352167 | C | CACACGA | upstream_gene_variant | MODIFIER | HG01109.hp2 NA18522.hp1 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(1): Show |
4 | 300 | 0.0133 | 6 | c.-35 others(17): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3344 | chr3 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102822170 | T | TCACACA | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01257.hp1 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0093 others(1): Show |
4 | 64 | 0.0625 | 6 | c.*63 others(17): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | |||||||
AZIN1_chr8_102821308_102869163 | 102830663 | G | GAAAAGA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(68): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0001t0002g0013 a0001c0001t0002g0213 a0001c0001t0002g0214 others(51): Show |
71 | 327 | 0.2171 | 6 | c.905 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 9/11 | chr8 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTG | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0002 a0001c0003t0001g0040 a0001c0004t0001g0006 others(2): Show |
14 | 159 | 0.0881 | 6 | c.360 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833269 | T | TAAGAAG | downstream_gene_variant | MODIFIER | HG01993.hp1 HG02129.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0003t0001g0031 |
5 | 367 | 0.0136 | 6 | c.*13 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1252 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833272 | T | TAAGAAG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01934.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0003t0001g0027 others(2): Show |
6 | 315 | 0.0190 | 6 | c.*13 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAGAAG | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0003t0001a0002c0005t0001 | a0001c0001t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0052 others(1): Show |
5 | 143 | 0.0350 | 6 | c.*14 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAATAAG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG03098.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0004t0001g0006 |
3 | 141 | 0.0213 | 6 | c.*14 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 836455 | G | GGAGACA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(317): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(60): Show |
320 | 389 | 0.8226 | 6 | c.*45 others(17): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4438 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721696 | G | GCAACAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01257.hp2 HG01258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0029 others(2): Show |
13 | 65 | 0.2000 | 6 | c.*41 others(17): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3552 | chr15 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167330263 | T | TAGCCAG | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 others(2): Show |
5 | 116 | 0.0431 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167357061 | C | CATATAA | intron_variant | MODIFIER | HG00673.hp1 HG02258.hp1 HG02896.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0002g0018 others(10): Show |
13 | 115 | 0.1130 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167365585 | T | TACACAC | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0111 a0001c0001t0005g0058 a0001c0001t0006g0071 others(1): Show |
4 | 58 | 0.0690 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167369061 | T | TTGTGTG | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0011 a0001c0001t0003g0027 a0001c0001t0004g0014 others(2): Show |
5 | 9 | 0.5556 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTG | intron_variant | MODIFIER | NA18612.hp1 NA19030.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0108 a0001c0001t0002g0113 a0001c0001t0003g0002 others(2): Show |
5 | 22 | 0.2273 | 6 | c.-51 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167492877 | A | ATGTGTG | intron_variant | MODIFIER | HG01891.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034 | a0001c0001t0005g0101 a0001c0001t0034g0044 |
2 | 32 | 0.0625 | 6 | 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 | 167521980 | G | GTATATA | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0006g0071 others(2): Show |
5 | 74 | 0.0676 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167526186 | A | AACACAC | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG02683.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0003g0027 others(3): Show |
6 | 106 | 0.0566 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0001g0105 others(19): Show |
22 | 54 | 0.4074 | 6 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTT | intron_variant | MODIFIER | HG02004.hp1 HG02040.hp1 HG02132.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0068 others(13): Show |
16 | 38 | 0.4211 | 6 | c.-40 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167612367 | T | TTTATTA | intron_variant | MODIFIER | HG02683.hp2 HG02738.hp1 HG02886.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0002g0029 others(11): Show |
14 | 25 | 0.5600 | 6 | c.-40 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |