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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NXPH1_chr7_8428609_8757961 | 8571469 | TAAGCAGC others(11647): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 208 | 0.0048 | -11654 | c.54+ others(19): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZBTB20_chr3_114309500_115152288 | 114938105 | GAGACTCC others(11642): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01109.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(19): Show | a0001c0001t0002g0077 a0001c0001t0004g0071 a0001c0001t0008g0079 others(19): Show |
22 | 88 | 0.2500 | -11649 | c.-45 others(21): Show |
ZBTB20 | ENSG00000181722.18 | transcript | ENST00000675478.1 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42931452 | GCCTCGGC others(11476): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0161 | 1 | 352 | 0.0028 | -11483 | c.563 others(18): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
TEX9_chr15_56360426_56435154 | 56423393 | GTCCGCTG others(11471): Show |
G | exon_loss_variant | HIGH | NA18994.hp2 | a0000 | a0000c0008 | a0000c0008t0014 | a0000c0008t0014g0146 | 1 | 380 | 0.0026 | -11478 | c.964 others(14): Show |
TEX9 | ENSG00000151575.15 | transcript | ENST00000696102.1 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPDYE9_chr7_73070972_73091038 | 73079580 | TGTCTCAA others(11451): Show |
T | exon_loss_variant | HIGH | HG02723.hp2 | a0007 | a0007c0010 | a0007c0010t0019 | a0007c0010t0019g0134 | 1 | 164 | 0.0061 | -11458 | c.-55 others(13): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
CLHC1_chr2_55167547_55237293 | 55182761 | GAAGGAGA others(11384): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0001 | a0002c0001t0018 | a0002c0001t0018g0289 | 1 | 404 | 0.0025 | -11391 | c.100 others(20): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155652443 | ATCTCCAT others(11374): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0168 | 1 | 231 | 0.0043 | -11381 | c.-28 others(21): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
AMY1A_chr1_103650760_103669554 | 103658184 | TACACATT others(11363): Show |
T | exon_loss_variant | HIGH | HG03492.hp1 | a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0075 | 1 | 230 | 0.0044 | -11370 | c.513 others(13): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225209407 | TTCAAGGT others(11345): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0068 | a0068c0062 | a0068c0062t0001 | a0068c0062t0001g0231 | 1 | 240 | 0.0042 | -11352 | c.643 others(20): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 41/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEPDC7_chr11_33010878_33038582 | 33023147 | ATGAACCC others(11336): Show |
A | exon_loss_variant | HIGH | HG01257.hp2 | a0000 | a0000c0009 | a0000c0009t0005 | a0000c0009t0005g0126 | 1 | 422 | 0.0024 | -11343 | c.74- others(13): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69999530 | TCTCATAA others(11324): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0182 | 1 | 182 | 0.0055 | -11331 | c.102 others(21): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DEFA1B_chr8_6991766_7004198 | 6992887 | GTGTGTAA others(11304): Show |
G | transcript_ablation | HIGH | HG01071.hp2 HG02257.hp1 HG03516.hp1 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 4 | 398 | 0.0101 | -11311 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
SPATA45_chr1_212825141_212852649 | 212829026 | ACACAAAG others(11290): Show |
A | exon_loss_variant | HIGH | HG00738.hp1 HG00741.hp2 HG03492.hp1 others(8): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0011 a0000c0000t0002g0028 a0000c0000t0002g0048 others(1): Show |
11 | 402 | 0.0274 | -11297 | c.-38 others(14): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97187500 | CGAAGCTG others(11237): Show |
C | exon_loss_variant | HIGH | HG00597.hp1 | a0033 | a0033c0035 | a0033c0035t0001 | a0033c0035t0001g0136 | 1 | 212 | 0.0047 | -11244 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10135219 | GGCACCAA others(11236): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 224 | 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 |
a0003a0010 | a0003c0027a0010c0021 | a0003c0027t0033a0010c0021t0017 | a0003c0027t0033g0122 a0010c0021t0017g0113 |
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 | a0002c0002t0001g0257 | 1 | 358 | 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 |
a0003a0008a0011 | a0003c0002a0008c0011a0011c0018 | a0003c0002t0001a0003c0002t0002a0008c0011t0002others(1): Show | a0003c0002t0001g0006 a0003c0002t0002g0007 a0003c0002t0002g0008 others(4): Show |
7 | 72 | 0.0972 | -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 | a0000 | a0000c0021 | a0000c0021t0011 | a0000c0021t0011g0074 | 1 | 395 | 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 | a0001c0001t0008g0019 | 2 | 380 | 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 | a0001c0002t0002g0198 a0001c0002t0004g0188 |
2 | 208 | 0.0096 | -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 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0177 a0005c0006t0006g0178 a0005c0006t0006g0179 |
3 | 206 | 0.0146 | -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 | a0001c0002t0014 | a0001c0002t0014g0064 | 1 | 340 | 0.0029 | -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 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0123 | 1 | 329 | 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 |
A | intron_variant | MODIFIER | HG00140.hp2 HG02683.hp1 HG02717.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0113 others(5): Show |
9 | 392 | 0.0230 | -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 | a0001c0001a0004c0004a0011c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 others(101): Show |
104 | 392 | 0.2653 | -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 | a0001c0001t0002a0001c0001t0030a0001c0001t0031others(5): Show | a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0030g0247 others(9): Show |
13 | 364 | 0.0357 | -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 | a0005 | a0005c0009 | a0005c0009t0041 | a0005c0009t0041g0105 | 1 | 352 | 0.0028 | -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 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0207 | 1 | 282 | 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 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0114 | 1 | 316 | 0.0032 | -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 |
a0009 | a0009c0013 | a0009c0013t0005 | a0009c0013t0005g0100 a0009c0013t0005g0104 a0009c0013t0005g0105 |
3 | 316 | 0.0095 | -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 |
a0015a0031a0042 | a0015c0023a0015c0048a0031c0047others(1): Show | a0015c0023t0001a0015c0048t0001a0031c0047t0001others(1): Show | a0015c0023t0001g0134 a0015c0048t0001g0096 a0031c0047t0001g0255 others(1): Show |
4 | 316 | 0.0127 | -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 | a0001c0002t0001g0020 | 1 | 318 | 0.0031 | -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 | a0004c0004t0001g0015 | 1 | 63 | 0.0159 | -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 | a0044 | a0044c0114 | a0044c0114t0002 | a0044c0114t0002g0076 | 1 | 152 | 0.0066 | -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 | 160 | 0.0063 | -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 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 160 | 0.0063 | -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 | a0001c0001t0001g0140 | 1 | 160 | 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 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 398 | 0.0075 | -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 | a0000 | a0000c0020 | a0000c0020t0003 | a0000c0020t0003g0074 | 1 | 374 | 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 |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0003 a0000c0000t0002g0023 |
59 | 434 | 0.1359 | -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 | a0001c0001t0006g0191 a0001c0001t0006g0216 |
2 | 338 | 0.0059 | -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 | a0005c0015t0002g0233 | 1 | 262 | 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 | a0001c0001t0002g0062 | 1 | 330 | 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 | a0025 | a0025c0079 | a0025c0079t0011 | a0025c0079t0011g0153 | 1 | 455 | 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 | a0001c0001t0001g0016 | 1 | 396 | 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 |
a0070a0071a0089others(1): Show | a0070c0123a0071c0124a0089c0036others(1): Show | a0070c0123t0001a0071c0124t0001a0089c0036t0001others(1): Show | a0070c0123t0001g0116 a0071c0124t0001g0128 a0089c0036t0001g0053 others(1): Show |
4 | 188 | 0.0213 | -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 |
a0021a0054a0074others(1): Show | a0021c0056a0021c0057a0054c0104others(2): Show | a0021c0056t0001a0021c0057t0001a0054c0104t0001others(2): Show | a0021c0056t0001g0041 a0021c0057t0001g0037 a0054c0104t0001g0162 others(2): Show |
5 | 188 | 0.0266 | -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 | a0045 | a0045c0023 | a0045c0023t0001 | a0045c0023t0001g0020 | 1 | 286 | 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 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0004 others(3): Show |
6 | 252 | 0.0238 | -10449 | c.9+2 others(15): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |