| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MEI4_chr6_77648039_77932045 | 77717202 | CGTGAACA others(8455): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(27): Show | 30 | 360 | 0.0833 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MEI4_chr6_77648039_77932045 | 77717373 | AGGTTTTA others(8455): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0004 | 1 | 360 | 0.0028 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MEI4_chr6_77648039_77932045 | 77717503 | GGGCTGGG others(8455): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01891.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0238a0001c0001t0003g0152a0001c0001t0003g0166others(18): Show | 21 | 360 | 0.0583 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FGD4_chr12_32394558_32651050 | 32465465 | GGAGACCA others(8411): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0193 | 1 | 232 | 0.0043 | -8418 | c.166 others(19): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UBE2K_chr4_39693136_39787792 | 39702769 | CTGTAGAC others(8389): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 336 | 0.0030 | -8396 | c.63+ others(16): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4155866 | ACTTCCCG others(8353): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0277 | 1 | 404 | 0.0025 | -8360 | c.156 others(15): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| RABEP1_chr17_5277284_5391340 | 5310909 | AAGCGACT others(8346): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0163 | 1 | 352 | 0.0028 | -8353 | c.163 others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| C14orf132_chr14_96034362_96098971 | 96061027 | AATGCCAC others(8327): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 372 | 0.0027 | -8334 | c.27+ others(17): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1394393 | ACCTCCTC others(8315): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -8322 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42635875 | GTGGGCAT others(8282): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0201 | 1 | 210 | 0.0048 | -8289 | c.136 others(18): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF4_chr2_130831914_131052253 | 130881495 | AAGAGCGG others(8237): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0120 | 1 | 144 | 0.0069 | -8244 | c.40- others(17): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BBX_chr3_107517962_107816339 | 107692856 | CCTGTTGT others(8236): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 HG02965.hp1 others(3): Show |
a0003a0008 | a0003c0003a0003c0011a0008c0012 | a0003c0003t0008a0003c0003t0057a0003c0011t0009others(1): Show | a0003c0003t0008g0044a0003c0003t0008g0045a0003c0003t0008g0118others(3): Show | 6 | 222 | 0.0270 | -8243 | c.-9- others(16): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SGCD_chr5_156322164_156772788 | 156657939 | GGGGAGAG others(8205): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0117a0001c0001t0006g0038others(6): Show | 9 | 150 | 0.0600 | -8212 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RALYL_chr8_84178274_84926844 | 84348731 | CCAACTTT others(8196): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0032a0001c0001t0004g0016a0001c0001t0004g0026others(3): Show | 6 | 82 | 0.0732 | -8203 | c.-24 others(21): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MAP3K13_chr3_185358136_185494094 | 185383280 | GGTTCCAA others(8195): Show |
G | intron_variant | MODIFIER | NA18982.hp2 NA19077.hp1 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0002a0009c0017t0002 | a0001c0001t0002g0029a0009c0017t0002g0011 | 2 | 278 | 0.0072 | -8202 | c.-86 others(19): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
| SPANXA2_chrX_141584708_141595762 | 141585342 | TGGACACT others(8179): Show |
T | transcript_ablation | HIGH | NA18968.hp1 NA18998.hp2 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 185 | 0.0108 | -8186 | c.-44 others(11): Show |
p.0? | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | chrX | TogoVar | |||||
| MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show |