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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBF2_chr11_9773668_10299219 | 10135219 | GGCACCAA others(11236): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 222 | 0.0045 | -11243 | c.141 others(19): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245473476 | AAAGAGGC others(11222): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03704.hp2 |
a0002a0016 | a0002c0027a0016c0021 | a0002c0027t0033a0016c0021t0017 | a0002c0027t0033g0123 a0016c0021t0017g0114 |
2 | 160 | 0.0125 | -11229 | c.116 others(21): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45498117 | GTTATCTA others(11222): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0264 | 1 | 356 | 0.0028 | -11229 | c.187 others(20): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41736354 | TTGTTCCC others(11170): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02818.hp2 others(4): Show |
a0004a0010a0020 | a0004c0002a0010c0011a0020c0018 | a0004c0002t0001a0004c0002t0002a0010c0011t0002others(1): Show | a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 others(4): Show |
7 | 70 | 0.1000 | -11177 | c.232 others(20): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 22/36 | chr3 | TogoVar | |||||||
KIR3DL1_chr19_54811468_54835778 | 54824639 | GCACTCCA others(11132): Show |
G | exon_loss_variant | HIGH | NA19030.hp1 | a0028 | a0028c0017 | a0028c0017t0004 | a0028c0017t0004g0047 | 1 | 394 | 0.0025 | -11139 | c.950 others(13): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 6/9 | chr19 | TogoVar | |||||||
SOCS5_chr2_46694295_46768129 | 46740672 | CTGATACC others(11126): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 2 | 378 | 0.0053 | -11133 | c.-12 others(18): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
PAK5_chr20_9532370_9844076 | 9718447 | AGGTTTGA others(11080): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0180 a0001c0002t0004g0054 |
2 | 206 | 0.0097 | -11087 | c.-16 others(20): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
AGAP9_chr10_47496854_47528638 | 47515631 | ACTATGGC others(11078): Show |
A | exon_loss_variant | HIGH | HG01192.hp1 HG01884.hp2 HG03209.hp2 |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0105 a0004c0005t0005g0106 a0004c0005t0005g0107 |
3 | 204 | 0.0147 | -11085 | c.-31 others(14): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50359452 | TGTGATCT others(11063): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0022 | 1 | 338 | 0.0030 | -11070 | c.-14 others(20): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39774918 | TACTCTAA others(11035): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02080.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0121 | 1 | 328 | 0.0030 | -11042 | c.891 others(18): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 11/21 | chr8 | TogoVar | |||||||
CWF19L2_chr11_107321360_107462825 | 107363475 | AGGCAGAA others(10941): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02683.hp1 HG02717.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0004 a0001c0001t0001g0114 a0001c0001t0001g0115 others(5): Show |
9 | 69 | 0.1304 | -10948 | c.187 others(20): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 12/17 | chr11 | TogoVar | |||||||
CWF19L2_chr11_107321360_107462825 | 107365900 | CGACATGA others(10933): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(101): Show |
a0001a0004a0011others(1): Show | a0001c0001a0004c0004a0011c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(98): Show |
104 | 387 | 0.2687 | -10940 | c.187 others(21): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 12/17 | chr11 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54030525 | CAGAAAAA others(10931): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0028a0001c0001t0029others(5): Show | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0028g0245 others(9): Show |
13 | 362 | 0.0359 | -10938 | c.143 others(18): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42963303 | TTCCTTCT others(10920): Show |
T | exon_loss_variant | HIGH | HG03831.hp2 | a0004 | a0004c0007 | a0004c0007t0041 | a0004c0007t0041g0105 | 1 | 350 | 0.0029 | -10927 | c.189 others(12): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 4/11 | 516/3106 | chr13 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29029404 | GTGTCCAT others(10905): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0206 | 1 | 280 | 0.0036 | -10912 | c.113 others(19): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/13 | chr7 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14803118 | ATTTCTTT others(10885): Show |
A | exon_loss_variant | HIGH | HG01928.hp1 | a0026 | a0026c0030 | a0026c0030t0001 | a0026c0030t0001g0116 | 1 | 19 | 0.0526 | -10892 | c.219 others(17): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14800232 | GCAAACAA others(10880): Show |
G | exon_loss_variant | HIGH | HG02647.hp1 HG03098.hp1 NA19240.hp2 |
a0011 | a0011c0013 | a0011c0013t0005 | a0011c0013t0005g0102 a0011c0013t0005g0106 a0011c0013t0005g0107 |
3 | 295 | 0.0102 | -10887 | c.213 others(19): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 23/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14803765 | TGTGTTTA others(10880): Show |
T | exon_loss_variant | HIGH | HG03139.hp1 HG03927.hp1 NA18951.hp2 others(1): Show |
a0013a0037 | a0013c0023a0013c0047a0013c0048others(1): Show | a0013c0023t0001a0013c0047t0001a0013c0048t0001others(1): Show | a0013c0023t0001g0132 a0013c0047t0001g0253 a0013c0048t0001g0098 others(1): Show |
4 | 193 | 0.0207 | -10887 | c.228 others(17): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
USP33_chr1_77690987_77764852 | 77743643 | CCAAGCCA others(10865): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 316 | 0.0032 | -10872 | c.-52 others(17): Show |
USP33 | ENSG00000077254.14 | transcript | ENST00000370794.7 | protein_coding | 1/23 | chr1 | TogoVar | |||||||
DAZ1_chrY_23124355_23204008 | 23167744 | GTAAGCCA others(10833): Show |
G | exon_loss_variant | HIGH | HG02056.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0023 | 1 | 59 | 0.0169 | -10840 | c.993 others(16): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 16/28 | chrY | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19381022 | TAGCATTA others(10803): Show |
T | exon_loss_variant | HIGH | HG02622.hp2 | a0053 | a0053c0106 | a0053c0106t0002 | a0053c0106t0002g0076 | 1 | 150 | 0.0067 | -10810 | c.444 others(19): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 27/40 | chr10 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56769978 | ATTTTTTT others(10798): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 82 | 0.0122 | -10805 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56769978 | ATTTTTTT others(10797): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 82 | 0.0122 | -10804 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56769979 | TTTTTTTT others(10796): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 158 | 0.0063 | -10803 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 6993399 | TTTTTTTT others(10792): Show |
T | transcript_ablation | HIGH | HG00140.hp1 HG00408.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 395 | 0.0076 | -10799 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
BPIFB3_chr20_33048903_33078847 | 33064598 | GATGCCGG others(10750): Show |
G | exon_loss_variant | HIGH | NA19010.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0056 | 1 | 372 | 0.0027 | -10757 | c.732 others(12): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 9/16 | chr20 | TogoVar | |||||||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0002 | a0002c0000 | a0002c0000t0003 | a0002c0000t0003g0003 a0002c0000t0003g0019 |
59 | 432 | 0.1366 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231399630 | ACAGTGCT others(10654): Show |
A | intron_variant | MODIFIER | NA18942.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0128 a0001c0001t0006g0154 |
2 | 336 | 0.0060 | -10661 | c.891 others(19): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
FREM2_chr13_38682077_38892131 | 38809964 | TGAAATAT others(10649): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0015 | a0005c0015t0002 | a0005c0015t0002g0234 | 1 | 260 | 0.0038 | -10656 | c.601 others(21): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1712071 | TTCTTTTT others(10634): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 328 | 0.0030 | -10641 | c.318 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54217418 | ACTGGAGT others(10582): Show |
A | exon_loss_variant | HIGH | NA19087.hp2 | a0011 | a0011c0013 | a0011c0013t0029 | a0011c0013t0029g0038 | 1 | 454 | 0.0022 | -10589 | c.-50 others(10): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 11/13 | 1680/2742 | chr19 | TogoVar | ||||||
IFT43_chr14_75980763_76088742 | 76062637 | TCAGGCGC others(10551): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 394 | 0.0025 | -10558 | c.295 others(17): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NEB_chr2_151480339_151739476 | 151598359 | CAAAAAAA others(10547): Show |
C | exon_loss_variant | HIGH | NA18966.hp2 NA18984.hp1 NA19000.hp1 others(1): Show |
a0028a0114a0124 | a0028c0123a0028c0124a0114c0053others(1): Show | a0028c0123t0001a0028c0124t0001a0114c0053t0001others(1): Show | a0028c0123t0001g0123 a0028c0124t0001g0125 a0114c0053t0001g0086 others(1): Show |
4 | 95 | 0.0421 | -10554 | c.123 others(19): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 89/182 | chr2 | TogoVar | |||||||
NEB_chr2_151480339_151739476 | 151593635 | TCCTGCCC others(10546): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG02735.hp1 HG03491.hp2 others(2): Show |
a0022a0033a0105others(1): Show | a0022c0056a0022c0057a0033c0065others(2): Show | a0022c0056t0001a0022c0057t0001a0033c0065t0001others(2): Show | a0022c0056t0001g0042 a0022c0057t0001g0035 a0033c0065t0001g0068 others(2): Show |
5 | 112 | 0.0446 | -10553 | c.130 others(19): Show |
NEB | ENSG00000183091.21 | transcript | ENST00000397345.8 | protein_coding | 93/182 | chr2 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37166184 | ATGATCGT others(10475): Show |
A | exon_loss_variant | HIGH | HG03471.hp1 | a0026 | a0026c0016 | a0026c0016t0001 | a0026c0016t0001g0023 | 1 | 284 | 0.0035 | -10482 | c.206 others(17): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159089432 | TGTTCTCT others(10442): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0004 others(3): Show |
6 | 250 | 0.0240 | -10449 | c.9+2 others(15): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39484146 | TATCTTCT others(10397): Show |
T | intron_variant | MODIFIER | NA18994.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0183 a0001c0001t0005g0161 |
2 | 242 | 0.0083 | -10404 | c.385 others(21): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 2/3 | chr13 | TogoVar | |||||||
PRAMEF4_chr1_12874212_12891201 | 12876473 | TGACCTCG others(10392): Show |
T | transcript_ablation | HIGH | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 322 | 0.0031 | -10399 | c.-74 others(10): Show |
p.0? | PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
MAP3K2_chr2_127293668_127392975 | 127346078 | CAAACTTT others(10384): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0113 | 1 | 318 | 0.0031 | -10391 | c.-65 others(18): Show |
MAP3K2 | ENSG00000169967.17 | transcript | ENST00000682094.1 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SMR3A_chr4_70355760_70372158 | 70361864 | TCCAGTAT others(10287): Show |
T | exon_loss_variant | HIGH | HG00544.hp1 | a0002 | a0002c0000 | a0002c0000t0004 | a0002c0000t0004g0010 | 1 | 456 | 0.0022 | -10294 | c.-14 others(13): Show |
SMR3A | ENSG00000109208.5 | transcript | ENST00000226460.5 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
KRTAP2-3_chr17_41054240_41065114 | 41054887 | CGCAGGGG others(10220): Show |
C | transcript_ablation | HIGH | HG01258.hp1 | a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 1 | 83 | 0.0120 | -10227 | c.-50 others(11): Show |
p.0? | KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
UBE2O_chr17_76384456_76458152 | 76433748 | GCCAGTGC others(10213): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 362 | 0.0028 | -10220 | c.417 others(18): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
CYP2D6_chr22_42121499_42135810 | 42125620 | GGGGTGGG others(10183): Show |
G | transcript_ablation | HIGH | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | -10190 | c.-50 others(10): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17578938 | GCCTGTAA others(10171): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 398 | 0.0025 | -10178 | c.55+ others(14): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TAFA2_chr12_61703273_62197773 | 61807017 | CAAGCCAG others(10155): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0027others(1): Show | a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0114 others(6): Show |
9 | 220 | 0.0409 | -10162 | c.106 others(19): Show |
TAFA2 | ENSG00000198673.11 | transcript | ENST00000416284.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48352125 | GTTTGAGC others(10142): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02055.hp1 HG02922.hp1 HG02965.hp1 |
a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 |
3 | 176 | 0.0170 | -10149 | c.103 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25814319 | TTGTTATG others(10132): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 164 | 0.0061 | -10139 | c.734 others(21): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87978867 | TTCTGTGA others(10109): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 228 | 0.0044 | -10116 | c.323 others(17): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15466992 | GGAACCAG others(10092): Show |
G | exon_loss_variant | HIGH | NA18981.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0124 | 1 | 425 | 0.0024 | -10099 | c.640 others(13): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
FUT2_chr19_48690971_48710951 | 48697403 | CCTGTAAT others(10070): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03017.hp1 HG04184.hp2 HG04199.hp1 others(1): Show |
a0002 | a0002c0000 | a0002c0000t0002 | a0002c0000t0002g0016 a0002c0000t0002g0034 |
4 | 392 | 0.0102 | -10077 | c.-3+ others(13): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | chr19 | TogoVar |