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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2049): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 195 | 0.0051 | 2056 | c.648 others(2073): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650774 | T | TGACTGTG others(2049): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 90 | 0.0111 | 2056 | c.177 others(2075): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2049): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 8 | 0.1250 | 2056 | c.-23 others(2073): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGGAA others(2049): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0200 | 1 | 289 | 0.0035 | 2056 | c.157 others(2073): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2049): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 315 | 0.0032 | 2056 | c.115 others(2073): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748001 | A | ACTGGGGT others(2049): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0177 | 1 | 290 | 0.0034 | 2056 | c.189 others(2071): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2050): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0168 | 1 | 44 | 0.0227 | 2057 | c.108 others(2074): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2050): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0037 | 1 | 201 | 0.0050 | 2057 | c.108 others(2074): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923903 | C | CAGCCCCC others(2050): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0325 | 1 | 263 | 0.0038 | 2057 | c.488 others(2074): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911547 | T | TGGGGGGT others(2050): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0117 | 1 | 168 | 0.0060 | 2057 | c.101 others(2076): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2050): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0045 | a0045c0096 | a0045c0096t0002 | a0045c0096t0002g0168 | 1 | 97 | 0.0103 | 2057 | c.101 others(2076): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(2050): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 52 | 0.0192 | 2057 | c.259 others(2076): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2050): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0111 | 1 | 95 | 0.0105 | 2057 | c.*11 others(2078): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2050): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0107 | 1 | 17 | 0.0588 | 2057 | c.125 others(2074): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2050): Show |
frameshift_variant others(1): Show |
HIGH | NA19081.hp1 | a0135 | a0135c0232 | a0135c0232t0001 | a0135c0232t0001g0204 | 1 | 54 | 0.0185 | 2057 | c.485 others(2066): Show |
p.Ser others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1288275 | C | CCGTGTCT others(2051): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 255 | 0.0039 | 2058 | c.*52 others(2069): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111457 | A | AACCTGCC others(2051): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 193 | 0.0052 | 2058 | c.401 others(2075): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111793 | C | CACCTGCC others(2051): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0042 | 1 | 305 | 0.0033 | 2058 | c.401 others(2075): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2051): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 44 | 0.0227 | 2058 | c.108 others(2075): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2051): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0057 | 1 | 2 | 0.5000 | 2058 | c.126 others(2075): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2051): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0048 | a0048c0078 | a0048c0078t0001 | a0048c0078t0001g0165 | 1 | 127 | 0.0079 | 2058 | c.101 others(2077): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100995239 | A | ACACAACA others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02148.hp1 NA18989.hp1 |
a0002a0126 | a0002c0136a0126c0110 | a0002c0136t0001a0126c0110t0001 | a0002c0136t0001g0226 a0126c0110t0001g0182 |
2 | 340 | 0.0059 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp2 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0037 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02698.hp1 | a0002 | a0002c0119 | a0002c0119t0001 | a0002c0119t0001g0074 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG01070.hp2 | a0002 | a0002c0120 | a0002c0120t0001 | a0002c0120t0001g0225 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp1 | a0048 | a0048c0121 | a0048c0121t0001 | a0048c0121t0001g0089 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(13): Show |
a0001a0002a0017others(1): Show | a0001c0128a0002c0010a0002c0028others(9): Show | a0001c0128t0001a0002c0010t0001a0002c0028t0001others(9): Show | a0001c0128t0001g0164 a0002c0010t0001g0187 a0002c0010t0001g0197 others(13): Show |
16 | 69 | 0.2319 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(83): Show |
a0001a0002a0008others(17): Show | a0001c0002a0001c0012a0001c0031others(63): Show | a0001c0002t0001a0001c0012t0001a0001c0031t0001others(63): Show | a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0194 others(78): Show |
86 | 139 | 0.6187 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp1 HG06807.hp1 |
a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0019 a0008c0036t0001g0189 |
2 | 55 | 0.0364 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(6): Show |
a0010a0028a0119 | a0010c0037a0010c0179a0010c0180others(5): Show | a0010c0037t0001a0010c0179t0001a0010c0180t0001others(5): Show | a0010c0037t0001g0028 a0010c0037t0001g0292 a0010c0179t0001g0294 others(6): Show |
9 | 62 | 0.1452 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | NA19010.hp1 NA19090.hp1 |
a0001 | a0001c0169a0001c0199 | a0001c0169t0001a0001c0199t0001 | a0001c0169t0001g0193 a0001c0199t0001g0190 |
2 | 55 | 0.0364 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG03516.hp2 | a0105 | a0105c0113 | a0105c0113t0001 | a0105c0113t0001g0131 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp2 | a0001 | a0001c0170 | a0001c0170t0001 | a0001c0170t0001g0231 | 1 | 54 | 0.0185 | 2058 | c.485 others(2067): Show |
p.Leu others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp1 HG02897.hp1 |
a0038 | a0038c0027 | a0038c0027t0001 | a0038c0027t0001g0024 | 2 | 337 | 0.0059 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | NA19240.hp1 | a0136 | a0136c0171 | a0136c0171t0001 | a0136c0171t0001g0019 | 1 | 336 | 0.0030 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100995926 | C | CCACAACT others(2051): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 | a0058 | a0058c0185 | a0058c0185t0001 | a0058c0185t0001g0028 | 1 | 336 | 0.0030 | 2058 | c.536 others(2067): Show |
p.Thr others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 5426/16366 | 5368/16008 | 1790/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101000146 | G | GGCCCAGG others(2051): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG04228.hp1 NA18950.hp2 |
a0017 | a0017c0122a0017c0123a0017c0130 | a0017c0122t0001a0017c0123t0001a0017c0130t0001 | a0017c0122t0001g0239 a0017c0123t0001g0218 a0017c0130t0001g0240 |
3 | 326 | 0.0092 | 2058 | c.974 others(2067): Show |
p.Pro others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 9808/16366 | 9750/16008 | 3250/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101000149 | C | CCAGGCTC others(2051): Show |
disruptive_inframe_insertion | MODERATE | HG03654.hp2 | a0108 | a0108c0196 | a0108c0196t0001 | a0108c0196t0001g0077 | 1 | 340 | 0.0029 | 2058 | c.974 others(2067): Show |
p.Pro others(2073): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 9808/16366 | 9750/16008 | 3250/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
WDR64_chr1_241647281_241807777 | 241675205 | C | CCCTTCCT others(2051): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0317 | 1 | 310 | 0.0032 | 2058 | c.483 others(2073): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF407_chr18_74592870_75070671 | 74617136 | A | ACACATCC others(2051): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0012 | a0012c0019 | a0012c0019t0009 | a0012c0019t0009g0091 | 1 | 59 | 0.0169 | 2058 | c.-53 others(2077): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2052): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0095 | 1 | 44 | 0.0227 | 2059 | c.108 others(2076): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2052): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 a0001c0001t0004g0104 a0001c0001t0004g0173 |
3 | 6 | 0.5000 | 2059 | c.972 others(2072): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2052): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 3 | 0.3333 | 2059 | c.-16 others(2070): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2052): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0120 | 1 | 95 | 0.0105 | 2059 | c.*11 others(2080): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102282 | C | CATTCACG others(2052): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0093 | 1 | 397 | 0.0025 | 2059 | c.125 others(2076): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2052): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0216 a0001c0001t0047g0012 |
2 | 225 | 0.0089 | 2059 | c.*39 others(2070): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2052): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 2059 | c.-50 others(2070): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2053): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0017 | a0017c0021 | a0017c0021t0006 | a0017c0021t0006g0010 | 1 | 44 | 0.0227 | 2060 | c.108 others(2077): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2053): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0261 | 1 | 195 | 0.0051 | 2060 | c.648 others(2077): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2053): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0009 | a0009c0008 | a0009c0008t0003 | a0009c0008t0003g0129 | 1 | 30 | 0.0333 | 2060 | c.445 others(2075): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |