| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TOR1AIP2_chr1_179834976_179882803 | 179837278 | GTCGCGCA others(1390): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0051 | 1 | 278 | 0.0036 | -1397 | c.*73 others(11): Show |
TOR1AIP2 | ENSG00000169905.13 | transcript | ENST00000609928.6 | protein_coding | 2697 | chr1 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 991175 | ACCCCCTG others(1389): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 40 | 0.0250 | -1396 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1372307 | GGGAGAAT others(1389): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 113 | 0.0088 | -1396 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| THSD4_chr15_71110471_71788383 | 71589230 | TAAAGGAC others(1389): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 others(13): Show |
16 | 116 | 0.1379 | -1396 | c.115 others(21): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | chr15 | TogoVar | |||||||
| CROCC2_chr2_240901336_240998311 | 240977411 | TCTCTGGG others(1388): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0075 a0002c0002t0002g0290 a0002c0002t0002g0292 |
3 | 333 | 0.0090 | -1395 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| NRK_chrX_105817539_105963610 | 105887094 | ATTAAAAT others(1388): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01981.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0114 | 1 | 217 | 0.0046 | -1395 | c.253 others(15): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPC5_chr13_91393621_92872237 | 92592217 | GAGAATGG others(1387): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0035 | 1 | 42 | 0.0238 | -1394 | c.156 others(23): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| PPP1R9A_chr7_94902594_95301400 | 95071032 | ATCAAACT others(1386): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0140 | 1 | 288 | 0.0035 | -1393 | c.139 others(21): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100312496 | CAAAAAAA others(1386): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0005 | 1 | 280 | 0.0036 | -1393 | c.763 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100312524 | GAAAAAAG others(1386): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02723.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 2 | 312 | 0.0064 | -1393 | c.764 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166829 | CATGGTCT others(1385): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(43): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0182 a0001c0001t0001g0262 a0001c0001t0002g0003 others(39): Show |
46 | 337 | 0.1365 | -1392 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
| SPDYE3_chr7_100302702_100327196 | 100313165 | ACGTAGGT others(1385): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01891.hp1 HG03453.hp2 |
a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0031 | 2 | 342 | 0.0058 | -1392 | c.982 others(14): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100313637 | GATTGCTT others(1385): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0002g0005 a0001c0002t0002g0005 a0001c0002t0002g0020 others(8): Show |
21 | 342 | 0.0614 | -1392 | c.982 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| C3orf20_chr3_14670141_14778036 | 14768046 | CCTGTAAC others(1383): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 378 | 0.0026 | -1390 | c.249 others(19): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100310737 | ACAACAGA others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0002a0007 | a0002c0003a0007c0013 | a0002c0003t0001a0007c0013t0001 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0007c0013t0001g0007 |
16 | 335 | 0.0478 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100311134 | AAAAAAAG others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 342 | 0.0029 | -1390 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100311877 | AGAGACGC others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 284 | 0.0035 | -1390 | c.763 others(13): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288757 | CCGTGTCC others(1382): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 285 | 0.0035 | -1389 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3633 | chr1 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288757 | CCGTGTCC others(1382): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0034 | a0003c0034t0009 | a0003c0034t0009g0277 | 1 | 282 | 0.0035 | -1389 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1381): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01074.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(7): Show | a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0049 others(19): Show |
27 | 455 | 0.0593 | -1388 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| PARD3B_chr2_204540475_205625162 | 205263745 | TTCAAAAG others(1381): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 54 | 0.0185 | -1388 | c.218 others(21): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | chr2 | TogoVar | |||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1381): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG03225.hp1 |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0171 a0008c0012t0001g0174 a0008c0012t0001g0177 |
3 | 409 | 0.0073 | -1388 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TENM1_chrX_124370903_125209312 | 125101049 | AATCCAGG others(1381): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0056 | 1 | 138 | 0.0072 | -1388 | c.-65 others(19): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 3/34 | chrX | TogoVar | |||||||
| PIK3CB_chr3_138647698_138839928 | 138789397 | TGCAGTGA others(1380): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0169 |
2 | 204 | 0.0098 | -1387 | c.-17 others(17): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 2/23 | chr3 | TogoVar | |||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1380): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0176 | 1 | 407 | 0.0025 | -1387 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ZNF407_chr18_74592870_75070671 | 74676697 | ATGCTGGG others(1380): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 74 | 0.0135 | -1387 | c.480 others(21): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| B3GALT4_chr6_33272123_33283825 | 33280891 | TGCTCCAT others(1379): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 362 | 0.0028 | -1386 | c.*23 others(11): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 2067 | chr6 | TogoVar | |||||||
| DPH7_chr9_137549444_137583925 | 137565692 | TCTGTCTG others(1379): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 a0001c0001t0002g0300 |
2 | 334 | 0.0060 | -1386 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3686544 | GGGGCCCC others(1379): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0237 | 1 | 287 | 0.0035 | -1386 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| SFI1_chr22_31491536_31623588 | 31591641 | CGGGGGGC others(1379): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG03139.hp1 others(5): Show |
a0003a0013a0020 | a0003c0003a0003c0033a0013c0012others(1): Show | a0003c0003t0001a0003c0033t0001a0013c0012t0001others(1): Show | a0003c0003t0001g0166 a0003c0003t0001g0170 a0003c0003t0001g0185 others(5): Show |
8 | 319 | 0.0251 | -1386 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100308896 | ATGGTTTG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA20752.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0072 | 1 | 341 | 0.0029 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100309536 | AGTGACAG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
4 | 315 | 0.0127 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| WDR46_chr6_33274108_33294239 | 33280891 | TGCTCCAT others(1379): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03209.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0062 | 1 | 372 | 0.0027 | -1386 | c.111 others(14): Show |
p.Tyr others(13): Show |
WDR46 | ENSG00000227057.10 | transcript | ENST00000374617.9 | protein_coding | 11/15 | 1280/2070 | 1116/1833 | 372/610 | chr6 | TogoVar | |||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1378): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18952.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0001a0002c0003t0003a0002c0009t0005 | a0001c0001t0001g0311 a0002c0003t0003g0042 a0002c0009t0005g0312 |
4 | 369 | 0.0108 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316488 | CGTGTGTA others(1378): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0050 others(20): Show |
35 | 444 | 0.0788 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| JMJD1C_chr10_63162225_63470977 | 63270250 | TCTGCCTC others(1378): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 308 | 0.0032 | -1385 | c.334 others(17): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02615.hp2 HG03540.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0004 | a0001c0001t0002g0162 a0005c0007t0004g0132 a0005c0007t0004g0168 |
3 | 459 | 0.0065 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316487 | ACGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02647.hp1 HG03579.hp2 others(2): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0007 | a0002c0002t0005a0002c0002t0012a0003c0004t0004others(1): Show | a0002c0002t0005g0299 a0002c0002t0012g0085 a0003c0004t0004g0038 others(1): Show |
5 | 470 | 0.0106 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| SNX1_chr15_64090982_64149231 | 64147848 | GGCACCTG others(1376): Show |
G | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 268 | 0.0037 | -1383 | c.*10 others(13): Show |
SNX1 | ENSG00000028528.15 | transcript | ENST00000559844.6 | protein_coding | 3618 | chr15 | TogoVar | |||||||
| TMEM245_chr9_109010135_109124947 | 109041531 | TTGGCTCA others(1375): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0173 a0001c0001t0035g0271 a0001c0001t0035g0272 |
3 | 420 | 0.0071 | -1382 | c.212 others(19): Show |
TMEM245 | ENSG00000106771.13 | transcript | ENST00000374586.8 | protein_coding | 14/17 | chr9 | TogoVar | |||||||
| TRIP13_chr5_887884_923120 | 898470 | GTCAGTGT others(1375): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0155 | 1 | 400 | 0.0025 | -1382 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| DCAF8L2_chrX_27585344_27754942 | 27696695 | GTTTTTCA others(1374): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02723.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0002a0001c0008t0001a0001c0011t0001others(2): Show | a0001c0001t0002g0128 a0001c0008t0001g0123 a0001c0011t0001g0121 others(2): Show |
5 | 260 | 0.0192 | -1381 | c.-14 others(21): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932461 | CGGGGAGA others(1373): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 292 | 0.0034 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| CYP4F11_chr19_15907377_15939529 | 15932485 | GAGAGGAA others(1373): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0272 | 1 | 340 | 0.0029 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| CYP4F11_chr19_15907377_15939529 | 15932525 | GAGAAGAA others(1373): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0007 | a0004c0007t0031 | a0004c0007t0031g0202 | 1 | 324 | 0.0031 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1398924 | ACCTCCTC others(1373): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -1380 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| KLLN_chr10_87854158_87868533 | 87858623 | GGAGACTC others(1372): Show |
G | splice_region_variant | LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0000 | 1 | 428 | 0.0023 | -1379 | c.*19 others(11): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48718471 | GACATGGG others(1372): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 256 | 0.0039 | -1379 | c.390 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12663103 | GGCACATG others(1371): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0023 | 1 | 214 | 0.0047 | -1378 | c.225 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
| SLC41A3_chr3_126001357_126089124 | 126058949 | ACAGCTCT others(1370): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 368 | 0.0027 | -1377 | c.273 others(17): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar |