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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMZ1_chr7_2683202_2724683 | 2718969 | CAGGAAGG others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02970.hp2 |
a0002 | a0002c0012a0002c0052 | a0002c0012t0041a0002c0012t0115a0002c0052t0041 | a0002c0012t0041g0164a0002c0012t0115g0162a0002c0052t0041g0165 | 3 | 438 | 0.0069 | -11 | c.*60 others(22): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 6095 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
AMZ2_chr17_68243043_68262155 | 68247336 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 438 | 0.0023 | -11 | c.-13 others(22): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 706 | chr17 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026985 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 336 | 0.0030 | -11 | c.328 others(30): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026987 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325a0001c0001t0001g0327a0001c0001t0001g0328others(1): Show | 4 | 336 | 0.0119 | -11 | c.328 others(30): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145039010 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(173): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0128others(173): Show | 176 | 336 | 0.5238 | -11 | c.327 others(30): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC11_chr17_81886723_81905255 | 81887963 | AAAAAAAA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | -11 | c.-39 others(22): Show |
ANAPC11 | ENSG00000141552.18 | transcript | ENST00000344877.10 | protein_coding | 3759 | chr17 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72218145 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0238 | 1 | 352 | 0.0028 | -11 | c.-28 others(28): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218160 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02273.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0178a0001c0001t0001g0229a0001c0001t0002g0116others(1): Show | 4 | 352 | 0.0114 | -11 | c.-28 others(28): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218162 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02165.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0031 | a0001c0001t0001g0094a0001c0001t0001g0156a0001c0002t0031g0308 | 3 | 352 | 0.0085 | -11 | c.-28 others(28): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218164 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 352 | 0.0028 | -11 | c.-28 others(28): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218166 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0263a0001c0001t0006g0055 | 2 | 352 | 0.0057 | -11 | c.-28 others(28): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111823000 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0255 | 1 | 370 | 0.0027 | -11 | c.281 others(28): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 24/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846549 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0007a0001c0013 | a0001c0007t0002a0001c0013t0002 | a0001c0007t0002g0140a0001c0007t0002g0141a0001c0007t0002g0142others(2): Show | 5 | 370 | 0.0135 | -11 | c.185 others(28): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846551 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp2 HG02083.hp2 others(17): Show |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0306a0001c0005t0006g0308a0001c0005t0006g0314others(17): Show | 20 | 370 | 0.0541 | -11 | c.185 others(28): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846553 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA18959.hp1 NA18991.hp1 others(2): Show |
a0001 | a0001c0005a0001c0033 | a0001c0005t0006a0001c0005t0015a0001c0033t0006 | a0001c0005t0006g0328a0001c0005t0006g0334a0001c0005t0006g0337others(2): Show | 5 | 370 | 0.0135 | -11 | c.185 others(28): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC2_chr9_137169784_137193560 | 137186886 | TCCTTTAG others(4): Show |
T | intron_variant | MODIFIER | NA19009.hp1 NA19074.hp1 NA19074.hp2 |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0069a0002c0007t0001g0040 | 3 | 416 | 0.0072 | -11 | c.741 others(26): Show |
ANAPC2 | ENSG00000176248.9 | transcript | ENST00000323927.3 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110368308 | GAAAAAAA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0002g0002a0001c0001t0002g0003others(3): Show | 6 | 298 | 0.0201 | -11 | c.*58 others(22): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 4591 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382440 | TTAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0298 | 1 | 298 | 0.0034 | -11 | c.935 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382454 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 298 | 0.0034 | -11 | c.935 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382458 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 298 | 0.0034 | -11 | c.935 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382460 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 298 | 0.0034 | -11 | c.935 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110383888 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01884.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0064others(22): Show | 25 | 298 | 0.0839 | -11 | c.818 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110384673 | CACAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0241a0001c0001t0001g0242a0001c0001t0001g0243others(13): Show | 16 | 298 | 0.0537 | -11 | c.817 others(28): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
ANGEL1_chr14_76781009_76817882 | 76782826 | GTGATGGA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(6): Show | 9 | 396 | 0.0227 | -11 | c.*63 others(22): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 3182 | chr14 | TogoVar | ||||||
ANGEL1_chr14_76781009_76817882 | 76784693 | TTTTAAGT others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0262 | 1 | 396 | 0.0025 | -11 | c.*45 others(22): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 1315 | chr14 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107423827 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0224a0001c0001t0005g0225a0001c0001t0005g0226others(1): Show | 4 | 292 | 0.0137 | -11 | c.297 others(30): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107432785 | GATATGTA others(4): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 292 | 0.0034 | -11 | c.297 others(30): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6526257 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp1 others(52): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0006others(27): Show | a0001c0002t0001g0068a0001c0002t0001g0088a0001c0002t0001g0161others(52): Show | 55 | 336 | 0.1637 | -11 | c.566 others(28): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6533569 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp1 others(33): Show |
a0001 | a0001c0002a0001c0006a0001c0007others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0072others(17): Show | a0001c0002t0001g0068a0001c0002t0001g0088a0001c0002t0001g0161others(33): Show | 36 | 336 | 0.1071 | -11 | c.289 others(28): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6568234 | CGTGGACC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(68): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(47): Show | a0001c0001t0005g0319a0001c0001t0005g0323a0001c0001t0006g0320others(68): Show | 71 | 336 | 0.2113 | -11 | c.-53 others(22): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 4990 | chr8 | TogoVar | ||||||
ANGPT4_chr20_864900_921334 | 865132 | AAGCAGAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 NA19086.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0124a0001c0001t0002g0259a0001c0002t0001g0197 | 3 | 432 | 0.0069 | -11 | c.*78 others(22): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 4767 | chr20 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8363468 | CTCTCTCT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02622.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0064 | 6 | 408 | 0.0147 | -11 | c.-85 others(20): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 686 | chr19 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8375250 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 408 | 0.0025 | -11 | c.*13 others(22): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 881 | chr19 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101889429 | GAAAAAGA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229 | 2 | 422 | 0.0047 | -11 | c.*18 others(22): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1244 | chr11 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101910423 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 422 | 0.0024 | -11 | c.-92 others(28): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101911094 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 422 | 0.0024 | -11 | c.-92 others(28): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10103613 | AAATAAAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01123.hp1 others(20): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 23 | 462 | 0.0498 | -11 | c.-10 others(22): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 936 | chr19 | TogoVar | ||||||
ANG_chr14_20683764_20699183 | 20690221 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 472 | 0.0042 | -11 | c.-19 others(28): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ANHX_chr12_133213312_133240877 | 133229910 | GCTTCTCT others(4): Show |
G | intron_variant | MODIFIER | NA18995.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0167 | 1 | 442 | 0.0023 | -11 | c.377 others(28): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
ANHX_chr12_133213312_133240877 | 133237276 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 442 | 0.0023 | -11 | c.-15 others(22): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 1400 | chr12 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41658911 | TAAATAAA others(4): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 278 | 0.0036 | -11 | c.*36 others(28): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 42/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41693417 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00733.hp2 others(71): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0009others(37): Show | a0001c0001t0002g0020a0001c0001t0002g0161a0001c0001t0002g0176others(71): Show | 74 | 278 | 0.2662 | -11 | c.353 others(28): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 29/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41774040 | CAGAATTC others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(46): Show | a0001c0001t0001g0148a0001c0001t0001g0155a0001c0001t0001g0160others(124): Show | 128 | 278 | 0.4604 | -11 | c.28- others(28): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 1/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41791194 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA19076.hp1 | a0015 | a0015c0053 | a0015c0053t0002 | a0015c0053t0002g0263 | 1 | 278 | 0.0036 | -11 | c.27+ others(26): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 1/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048268 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02965.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0078a0001c0001t0001g0139a0002c0002t0001g0075 | 3 | 178 | 0.0169 | -11 | c.-14 others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1384 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048270 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0156 | 1 | 178 | 0.0056 | -11 | c.-14 others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1382 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113048272 | ATATATTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp1 HG03492.hp2 HG04199.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0007 | a0001c0001t0001g0136a0001c0001t0001g0160a0002c0003t0001g0145others(2): Show | 5 | 178 | 0.0281 | -11 | c.-14 others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1380 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113072953 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03688.hp2 HG03834.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0176a0002c0003t0001g0060 | 2 | 178 | 0.0112 | -11 | c.84+ others(28): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113152068 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG02055.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0030others(15): Show | 18 | 178 | 0.1011 | -11 | c.85- others(28): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113186576 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00738.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0006t0002others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0041others(11): Show | 14 | 178 | 0.0787 | -11 | c.187 others(28): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |