| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| THEG_chr19_356747_381026 | 363143 | AACCCTGT others(7082): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02148.hp2 | a0010 | a0010c0015 | a0010c0015t0003 | a0010c0015t0003g0137 | 1 | 368 | 0.0027 | -7089 | c.753 others(15): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/8 | chr19 | TogoVar | |||||||
| DHRS4_chr14_23948770_23974279 | 23967207 | GCAGCTCT others(7065): Show |
G | exon_loss_variant | HIGH | HG00408.hp2 | a0006 | a0006c0019 | a0006c0019t0005 | a0006c0019t0005g0129 | 1 | 265 | 0.0038 | -7072 | c.667 others(11): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7054611 | TAACATAT others(7065): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 287 | 0.0035 | -7072 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7054682 | TATAATTT others(7064): Show |
T | transcript_ablation | HIGH | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | -7071 | c.-31 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1400166 | CCCTCCTT others(7057): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -7064 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PMM2_chr16_8792839_8854325 | 8838074 | AGCAAAGG others(7050): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0039 | 1 | 405 | 0.0025 | -7057 | c.640 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PPFIBP1_chr12_27519206_27700564 | 27624823 | GTGAGCCC others(7047): Show |
G | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 312 | 0.0032 | -7054 | c.-35 others(17): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SLC39A10_chr2_195652226_195742700 | 195689426 | AAAAAAGA others(7031): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0268 | 1 | 374 | 0.0027 | -7038 | c.121 others(20): Show |
SLC39A10 | ENSG00000196950.14 | transcript | ENST00000359634.10 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
| SRRM4_chr12_118976541_119168051 | 119037657 | GGGGACAG others(7018): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0196 | 1 | 326 | 0.0031 | -7025 | c.131 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SMCO2_chr12_27441736_27507185 | 27495209 | GTTTTCTC others(7014): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0003a0004 | a0003c0004a0003c0009a0003c0013others(1): Show | a0003c0004t0005a0003c0004t0006a0003c0009t0005others(2): Show | a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(15): Show |
21 | 358 | 0.0587 | -7021 | c.658 others(12): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
| CSAG2_chrX_152703261_152714273 | 152707268 | GCCAGGAA others(6998): Show |
G | transcript_ablation | HIGH | NA18947.hp2 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 211 | 0.0047 | -7005 | c.-51 others(11): Show |
p.0? | CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1/2 | chrX | TogoVar | ||||||
| ZCWPW2_chr3_28343721_28531358 | 28497466 | TGTGGTGC others(6989): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0040 | 1 | 252 | 0.0040 | -6996 | c.657 others(17): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADK_chr10_74146221_74714290 | 74607797 | GCTTTCTT others(6976): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 198 | 0.0051 | -6983 | c.877 others(18): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| RBM6_chr3_49935150_50082249 | 49948710 | CAAAAAAG others(6964): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA18983.hp2 NA19057.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0187 others(2): Show |
5 | 216 | 0.0231 | -6971 | c.-67 others(17): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| STAG2_chrX_123956706_124107656 | 123967397 | CTGGGATT others(6960): Show |
C | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 274 | 0.0036 | -6967 | c.-16 others(20): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CCDC50_chr3_191324394_191403659 | 191346896 | AGCATCTT others(6959): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01069.hp2 others(30): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0017 | a0001c0003t0005a0001c0003t0023a0001c0003t0025others(5): Show | a0001c0003t0005g0017 a0001c0003t0005g0018 a0001c0003t0005g0038 others(24): Show |
33 | 404 | 0.0817 | -6966 | c.50- others(16): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
| ADCY9_chr16_3957653_4121442 | 4084205 | GGGTTCAA others(6955): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0005 a0002c0004t0026g0006 |
2 | 318 | 0.0063 | -6962 | c.169 others(21): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| TRIM48_chr11_55257155_55276114 | 55264123 | AATTACAC others(6934): Show |
A | exon_loss_variant | HIGH | NA18941.hp1 NA18943.hp2 NA18963.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0004 | a0003c0003t0003g0005 a0003c0003t0004g0005 |
9 | 270 | 0.0333 | -6941 | c.45- others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SPATA31D4_chr9_81923428_81939998 | 81933069 | ATAGACGA others(6922): Show |
A | splice_region_variant | LOW | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 352 | 0.0028 | -6929 | c.*15 others(10): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
| RLN2_chr9_5294864_5309716 | 5302794 | GTGTTTTG others(6915): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01168.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0048 | 1 | 450 | 0.0022 | -6922 | c.-51 others(14): Show |
RLN2 | ENSG00000107014.9 | transcript | ENST00000381627.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
| PMM2_chr16_8792839_8854325 | 8835298 | GAGAGCAC others(6890): Show |
G | intron_variant | MODIFIER | HG01261.hp1 NA20805.hp2 |
a0005 | a0005c0006 | a0005c0006t0018 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | 406 | 0.0049 | -6897 | c.640 others(18): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10203587 | CTAGGCAT others(6890): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0205 | 1 | 222 | 0.0045 | -6897 | c.56- others(16): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
| TMLHE_chrX_155484011_155617952 | 155548530 | ATGAGGCC others(6857): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0092 | 1 | 213 | 0.0047 | -6864 | c.-1- others(16): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| ALPK1_chr4_112292369_112447621 | 112304157 | CACTTGGA others(6854): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0047 | 1 | 304 | 0.0033 | -6861 | c.-15 others(19): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RLN2_chr9_5294864_5309716 | 5302856 | AAGATATA others(6853): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00438.hp1 HG01884.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0022 |
3 | 165 | 0.0182 | -6860 | c.-51 others(14): Show |
RLN2 | ENSG00000107014.9 | transcript | ENST00000381627.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
| SHROOM4_chrX_50581796_50819194 | 50648314 | TACCTTCT others(6845): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0129 | 1 | 173 | 0.0058 | -6852 | c.270 others(19): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
| TMEM106B_chr7_12206294_12248367 | 12237689 | GGCTGTGT others(6838): Show |
G | splice_region_variant others(1): Show |
LOW | NA18993.hp2 NA19066.hp2 |
a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0001 | 2 | 396 | 0.0051 | -6845 | c.*57 others(12): Show |
TMEM106B | ENSG00000106460.20 | transcript | ENST00000396668.8 | protein_coding | 8/8 | 0 | chr7 | TogoVar | ||||||
| PRUNE2_chr9_76606376_76911114 | 76831142 | CATGGTCT others(6835): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0238 | 1 | 221 | 0.0045 | -6842 | c.508 others(17): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
| ZNF845_chr19_53328749_53361906 | 53348359 | GCAAGGTG others(6820): Show |
G | stop_lost others(2): Show |
HIGH | HG02922.hp1 | a0002 | a0002c0004 | a0002c0004t0033 | a0002c0004t0033g0177 | 1 | 474 | 0.0021 | -6827 | c.143 others(14): Show |
p.Asp others(18): Show |
ZNF845 | ENSG00000213799.13 | transcript | ENST00000458035.3 | protein_coding | 4/4 | 143/2913 | 48/970 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||
| HTR2A_chr13_46826546_46902053 | 46876575 | AATTTTCT others(6812): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0024 | 1 | 334 | 0.0030 | -6819 | c.613 others(18): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
| MGAT4C_chr12_85950667_86261391 | 86032325 | TGAGAAAT others(6805): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01515.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0030a0002c0003t0031a0002c0003t0032others(1): Show | a0002c0003t0030g0005 a0002c0003t0031g0006 a0002c0003t0032g0010 others(1): Show |
4 | 186 | 0.0215 | -6812 | c.-7+ others(17): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
| NME1_chr17_51148559_51167168 | 51150779 | GCAGTGAG others(6791): Show |
G | exon_loss_variant | HIGH | HG03195.hp2 | a0004 | a0004c0006 | a0004c0006t0012 | a0004c0006t0012g0022 | 1 | 382 | 0.0026 | -6798 | c.-28 others(14): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1399997 | GGAGTCGT others(6781): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0028 | 1 | 29 | 0.0345 | -6788 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DHRS4_chr14_23948770_23974279 | 23967493 | CTCTGGGA others(6779): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(4): Show |
8 | 265 | 0.0302 | -6786 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
| DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(11): Show |
16 | 155 | 0.1032 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
| TBCK_chr4_106036599_106321209 | 106135421 | CTCTGGAG others(6775): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0013a0001c0001t0041a0001c0001t0043others(12): Show | a0001c0001t0013g0085 a0001c0001t0013g0088 a0001c0001t0013g0089 others(82): Show |
85 | 318 | 0.2673 | -6782 | c.223 others(21): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 23/25 | chr4 | TogoVar | |||||||
| ORM2_chr9_114324869_114338251 | 114325917 | CCCACTGT others(6770): Show |
C | exon_loss_variant | HIGH | HG02572.hp2 | a0007 | a0007c0023 | a0007c0023t0005 | a0007c0023t0005g0025 | 1 | 441 | 0.0023 | -6777 | c.-39 others(13): Show |
ORM2 | ENSG00000228278.5 | transcript | ENST00000431067.4 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
| ORM1_chr9_114318098_114331479 | 114322594 | CAGCTGTT others(6764): Show |
C | transcript_ablation | HIGH | NA19072.hp2 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 462 | 0.0022 | -6771 | c.-53 others(10): Show |
p.0? | ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| ORM1_chr9_114318098_114331479 | 114322739 | CACTGAAG others(6764): Show |
C | transcript_ablation | HIGH | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 462 | 0.0022 | -6771 | c.-39 others(10): Show |
p.0? | ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GTF2A1L_chr2_48612856_48684604 | 48624051 | CTAAACCC others(6755): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(45): Show |
a0001a0004a0008 | a0001c0001a0004c0007a0008c0011 | a0001c0001t0001a0001c0001t0006a0004c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(41): Show |
48 | 342 | 0.1404 | -6762 | c.247 others(17): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1369585 | CCATCTCA others(6749): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 113 | 0.0088 | -6756 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TCF20_chr22_42155013_42275653 | 42239176 | AACAATTT others(6745): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 354 | 0.0028 | -6752 | c.-37 others(19): Show |
TCF20 | ENSG00000100207.21 | transcript | ENST00000677622.1 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
| CTAG1B_chrX_154612609_154624282 | 154617539 | GCAACCCG others(6736): Show |
G | transcript_ablation | HIGH | HG03225.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 254 | 0.0039 | -6743 | c.-50 others(10): Show |
p.0? | CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 3/3 | chrX | TogoVar | ||||||
| H3C13_chr1_149808225_149818693 | 149811957 | TGTACTTG others(6729): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 374 | 0.0027 | -6736 | c.-50 others(11): Show |
p.0? | H3C13 | ENSG00000183598.4 | transcript | ENST00000331491.2 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| SH3RF1_chr4_169089259_169275956 | 169191391 | TAGATGAC others(6728): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 214 | 0.0047 | -6735 | c.394 others(19): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
| KLRC3_chr12_10407315_10425595 | 10418938 | TTTATGGC others(6650): Show |
T | exon_loss_variant | HIGH | HG03209.hp2 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0031 | 1 | 446 | 0.0022 | -6657 | c.-50 others(13): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
| CCDC171_chr9_15548043_15979037 | 15815308 | TGCTTTAT others(6627): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(100): Show |
a0001a0004a0011others(2): Show | a0001c0001a0004c0004a0011c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(100): Show |
103 | 264 | 0.3902 | -6634 | c.326 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TENT2_chr5_79607441_79693246 | 79657460 | AATACACC others(6625): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02015.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0232 a0001c0001t0001g0241 |
5 | 342 | 0.0146 | -6632 | c.107 others(18): Show |
TENT2 | ENSG00000164329.15 | transcript | ENST00000453514.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GH1_chr17_63912203_63923839 | 63915020 | GCCTTTAT others(6609): Show |
G | transcript_ablation | HIGH | NA19057.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 417 | 0.0024 | -6616 | c.-28 others(11): Show |
p.0? | GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/5 | chr17 | TogoVar | ||||||
| RMDN1_chr8_86467349_86513686 | 86490001 | TAAAGATT others(6580): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0006 | a0004c0006t0015 | a0004c0006t0015g0056 | 1 | 366 | 0.0027 | -6587 | c.248 others(17): Show |
RMDN1 | ENSG00000176623.12 | transcript | ENST00000406452.8 | protein_coding | 2/9 | chr8 | TogoVar |