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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAIR1_chr19_54346384_54369931 | 54350439 | AAGAAAAT others(12058): Show |
A | exon_loss_variant | HIGH | HG02280.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0069 | 1 | 460 | 0.0022 | -12065 | c.71- others(13): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 10/10 | chr19 | TogoVar | |||||||
KLRC2_chr12_10425599_10441010 | 10428975 | AACATTTT others(12028): Show |
A | transcript_ablation | HIGH | NA19000.hp2 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 424 | 0.0024 | -12035 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PSG3_chr19_42716642_42745481 | 42733453 | GAGGTATG others(12021): Show |
G | exon_loss_variant | HIGH | HG02970.hp1 | a0008 | a0008c0014 | a0008c0014t0008 | a0008c0014t0008g0039 | 1 | 366 | 0.0027 | -12028 | c.-50 others(13): Show |
PSG3 | ENSG00000221826.10 | transcript | ENST00000327495.10 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 63 | 219 | 0.2877 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7033199 | ATCTCGGC others(11973): Show |
A | transcript_ablation | HIGH | HG00738.hp1 HG02622.hp1 |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 2 | 260 | 0.0077 | -11980 | c.-50 others(11): Show |
p.0? | MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101469617 | AGGTTGCA others(11967): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0279 | 1 | 304 | 0.0033 | -11974 | c.316 others(19): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192880199 | TAGCCAGG others(11954): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | 296 | 0.0068 | -11961 | c.211 others(19): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CYP2A6_chr19_40838541_40855447 | 40843507 | GGTTTTTG others(11933): Show |
G | transcript_ablation | HIGH | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 381 | 0.0026 | -11940 | c.-50 others(10): Show |
p.0? | CYP2A6 | ENSG00000255974.8 | transcript | ENST00000301141.10 | protein_coding | 5/9 | chr19 | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23239528 | CTTCTTTA others(11929): Show |
C | exon_loss_variant | HIGH | HG03688.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0047 | 1 | 52 | 0.0192 | -11936 | c.858 others(16): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23239323 | TTGAGGCA others(11928): Show |
T | exon_loss_variant | HIGH | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 48 | 0.0208 | -11935 | c.858 others(14): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23239362 | CTGGTCAT others(11928): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(20): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(20): Show |
23 | 49 | 0.4694 | -11935 | c.930 others(18): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23242576 | TTTTTTTT others(11927): Show |
T | exon_loss_variant | HIGH | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 52 | 0.0192 | -11934 | c.930 others(16): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24882195 | CAAGATGC others(11917): Show |
C | exon_loss_variant | HIGH | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 40 | 0.0250 | -11924 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24782064 | GTTTACCT others(11882): Show |
G | exon_loss_variant | HIGH | HG01258.hp2 HG02071.hp1 NA18965.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0033 others(3): Show |
6 | 43 | 0.1395 | -11889 | c.787 others(17): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88419067 | CAGATGGG others(11875): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18966.hp1 NA19003.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 |
3 | 384 | 0.0078 | -11882 | c.-27 others(21): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
YPEL4_chr11_57640087_57654912 | 57642451 | GCACTCCA others(11851): Show |
G | transcript_ablation | HIGH | HG03491.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 326 | 0.0031 | -11858 | c.-48 others(11): Show |
p.0? | YPEL4 | ENSG00000166793.13 | transcript | ENST00000300022.8 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CYP2A6_chr19_40838541_40855447 | 40843595 | TCCTTCCT others(11845): Show |
T | exon_loss_variant | HIGH | HG00438.hp1 HG02165.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 348 | 0.0172 | -11852 | c.-50 others(10): Show |
CYP2A6 | ENSG00000255974.8 | transcript | ENST00000301141.10 | protein_coding | 8/9 | 1706/1761 | chr19 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114633274 | CAGAGTCT others(11823): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 56 | 0.0179 | -11830 | c.60+ others(19): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37171737 | CTTTTGTT others(11796): Show |
C | exon_loss_variant | HIGH | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 144 | 0.0069 | -11803 | c.225 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37173013 | ATAAAAAA others(11794): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02523.hp1 HG02683.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0083 others(3): Show |
6 | 251 | 0.0239 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 24/35 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37177323 | GTCTTATT others(11794): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG02970.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0069 | 1 | 277 | 0.0036 | -11801 | c.242 others(14): Show |
p.Ser others(13): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | 2422/4194 | 808/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37177714 | GCGCATCA others(11794): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0018 | a0031c0018t0001 | a0031c0018t0001g0095 | 1 | 198 | 0.0051 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37170147 | GTTTTTTT others(11786): Show |
G | exon_loss_variant | HIGH | HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0002others(3): Show | a0001c0001t0001g0206 a0003c0003t0001g0045 a0005c0005t0002g0003 others(14): Show |
18 | 124 | 0.1452 | -11793 | c.225 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37171003 | GTTAGCCA others(11786): Show |
G | exon_loss_variant | HIGH | NA19063.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0277 | 1 | 284 | 0.0035 | -11793 | c.225 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37181453 | GGAATGAA others(11735): Show |
G | exon_loss_variant | HIGH | HG02109.hp2 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0173 | 1 | 283 | 0.0035 | -11742 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61931090 | CCCATTCC others(11721): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0139 | 1 | 172 | 0.0058 | -11728 | c.-32 others(21): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SFMBT1_chr3_52898572_53051073 | 52993164 | TCTATGCA others(11711): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 others(18): Show |
21 | 326 | 0.0644 | -11718 | c.-13 others(21): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
STOX1_chr10_68822531_68898060 | 68852309 | ACTGCAGT others(11692): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 a0001c0002t0001g0124 |
2 | 310 | 0.0065 | -11699 | c.310 others(19): Show |
STOX1 | ENSG00000165730.16 | transcript | ENST00000298596.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UGT1A10_chr2_233631448_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02622.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0114 a0003c0004t0001g0013 a0003c0004t0001g0014 others(1): Show |
4 | 300 | 0.0133 | -11657 | c.856 others(19): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02622.hp2 others(2): Show |
a0008 | a0008c0008 | a0008c0008t0001a0008c0008t0004 | a0008c0008t0001g0042 a0008c0008t0001g0216 a0008c0008t0001g0217 others(1): Show |
5 | 348 | 0.0144 | -11657 | c.867 others(18): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A4_chr2_233713736_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0139 a0001c0001t0001g0140 others(1): Show |
5 | 330 | 0.0152 | -11657 | c.867 others(19): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0015 a0001c0002t0001g0088 a0001c0002t0001g0089 others(1): Show |
5 | 328 | 0.0152 | -11657 | c.867 others(19): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show |
5 | 330 | 0.0152 | -11657 | c.862 others(19): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0194 a0003c0004t0001g0010 a0003c0004t0001g0188 others(1): Show |
5 | 318 | 0.0157 | -11657 | c.856 others(19): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0258 a0001c0003t0001g0098 a0001c0003t0001g0099 others(2): Show |
5 | 288 | 0.0174 | -11657 | c.856 others(19): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233739685 | TTTTTGAT others(11650): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0191 a0001c0001t0001g0192 others(1): Show |
5 | 316 | 0.0158 | -11657 | c.856 others(19): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
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 | 86 | 0.2558 | -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 | 350 | 0.0029 | -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 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0128 | 1 | 378 | 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 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0032 | 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 | a0002c0001t0018g0254 | 1 | 402 | 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 | a0001c0001t0130 | a0001c0001t0130g0203 | 1 | 229 | 0.0044 | -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 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0017 | 1 | 230 | 0.0043 | -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 | a0070 | a0070c0063 | a0070c0063t0001 | a0070c0063t0001g0231 | 1 | 238 | 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 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0051 | 1 | 420 | 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 | 180 | 0.0056 | -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 |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 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 |
a0002 | a0002c0000 | a0002c0000t0002 | a0002c0000t0002g0010 a0002c0000t0002g0017 a0002c0000t0002g0022 others(1): Show |
11 | 400 | 0.0275 | -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 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0132 | 1 | 210 | 0.0048 | -11244 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |