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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RB1_chr13_48298751_48486890 | 48427513 | TTGGGGAG others(311): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0040a0001c0001t0001g0053others(1): Show | 4 | 306 | 0.0131 | -318 | c.169 others(21): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RPS6KA6_chrX_84053350_84193199 | 84191645 | TATATATA others(311): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0095 | a0002c0002t0095g0070 | 1 | 272 | 0.0037 | -318 | c.-40 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3447 | chrX | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288625 | TCCCCCGT others(311): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 290 | 0.0035 | -318 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1288793 | CCCCGTGT others(311): Show |
C | intron_variant | MODIFIER | NA18961.hp1 NA19057.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0004a0003c0004t0003g0007 | 2 | 290 | 0.0069 | -318 | c.166 others(18): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEPTIN14_chr7_55788540_55867752 | 55857569 | GGGGAGCC others(311): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0013 | a0006c0013t0039 | a0006c0013t0039g0008 | 1 | 390 | 0.0026 | -318 | c.54+ others(15): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
SEPTIN3_chr22_41964443_42003221 | 41990473 | TGGTGGCT others(311): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 360 | 0.0028 | -318 | c.216 others(17): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1070916 | GAGCCCCC others(311): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 1 | 118 | 0.0085 | -318 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9955195 | TATAAAAC others(311): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(42): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0016a0004c0002others(2): Show | a0001c0001t0001a0001c0016t0001a0004c0002t0001others(2): Show | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0145others(42): Show | 45 | 336 | 0.1339 | -318 | c.682 others(19): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9955197 | TAAAACTC others(311): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01069.hp2 others(61): Show |
a0001a0002a0009others(4): Show | a0001c0013a0002c0006a0002c0008others(7): Show | a0001c0013t0001a0002c0006t0001a0002c0008t0001others(7): Show | a0001c0013t0001g0188a0001c0013t0001g0213a0001c0013t0001g0251others(61): Show | 64 | 336 | 0.1905 | -318 | c.682 others(19): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127980101 | TTCTTTTT others(311): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(179): Show | 182 | 262 | 0.6947 | -318 | c.167 others(21): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50462153 | AAAAAATA others(311): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG02886.hp2 HG03017.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0004g0079a0001c0001t0004g0090a0001c0001t0007g0006others(2): Show | 5 | 106 | 0.0472 | -318 | c.363 others(19): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SPTSSA_chr14_34427788_34467240 | 34443198 | GGTGTGTG others(311): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 344 | 0.0029 | -318 | c.113 others(17): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76265850 | ATATATAT others(311): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0160a0001c0001t0001g0175a0001c0001t0002g0223others(16): Show | 19 | 324 | 0.0586 | -318 | c.830 others(15): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STPG2_chr4_97553872_98148476 | 97669501 | TGAAAGTT others(311): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(160): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0114others(160): Show | 163 | 266 | 0.6128 | -318 | c.132 others(21): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 10/10 | chr4 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32899772 | TAAAACAA others(311): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0020others(170): Show | 173 | 184 | 0.9402 | -318 | c.462 others(19): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273068 | ACCATCCA others(311): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 392 | 0.0026 | -318 | c.228 others(18): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM18_chr2_658877_682406 | 671353 | CCCTCCTG others(311): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0022a0001c0002t0005others(2): Show | a0001c0001t0005g0139a0001c0001t0022g0048a0001c0002t0005g0008others(5): Show | 19 | 442 | 0.0430 | -318 | c.233 others(17): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418524 | TCTCCTCC others(311): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 114 | 0.0088 | -318 | c.215 others(17): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
TRIM9_chr14_50970266_51100105 | 51053495 | TCAGAACA others(311): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0008a0002c0002t0011 | a0001c0001t0005g0032a0001c0001t0005g0033a0002c0002t0008g0325others(1): Show | 4 | 342 | 0.0117 | -318 | c.823 others(19): Show |
TRIM9 | ENSG00000100505.14 | transcript | ENST00000684578.1 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
UGGT2_chr13_95796580_96058401 | 95981168 | TAAGACAC others(311): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(314): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0005others(33): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(35): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(314): Show | 317 | 332 | 0.9548 | -318 | c.109 others(19): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 10/38 | chr13 | TogoVar | ||||||
WDR18_chr19_979345_999557 | 981263 | TGAGACCA others(311): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01109.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0018others(2): Show | a0001c0001t0001a0002c0003t0001a0003c0018t0002others(2): Show | a0001c0001t0001g0069a0002c0003t0001g0002a0003c0018t0002g0154others(9): Show | 23 | 456 | 0.0504 | -318 | c.-30 others(11): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 3081 | chr19 | TogoVar | ||||||
ZNF415_chr19_53102879_53137910 | 53113211 | TAAAAACC others(311): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(14): Show | a0001c0001t0002g0013a0001c0001t0002g0038a0001c0001t0002g0041others(254): Show | 286 | 428 | 0.6682 | -318 | c.136 others(17): Show |
ZNF415 | ENSG00000170954.12 | transcript | ENST00000243643.9 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
ZNF66_chr19_20771304_20814995 | 20797187 | AGATTTTT others(311): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01123.hp1 others(13): Show |
a0005a0008a0010others(1): Show | a0005c0006a0008c0009a0010c0011others(2): Show | a0005c0006t0012a0005c0006t0025a0005c0006t0048others(4): Show | a0005c0006t0012g0180a0005c0006t0012g0181a0005c0006t0012g0182others(11): Show | 16 | 398 | 0.0402 | -318 | c.226 others(17): Show |
ZNF66 | ENSG00000160229.13 | transcript | ENST00000344519.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF71_chr19_56590302_56629486 | 56600176 | ACCCTCTG others(311): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(363): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(296): Show | 366 | 432 | 0.8472 | -318 | c.-52 others(16): Show |
ZNF71 | ENSG00000197951.10 | transcript | ENST00000599599.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACSL3_chr2_222856036_222949639 | 222932640 | TAAAAGCA others(310): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(223): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(220): Show | 226 | 252 | 0.8968 | -317 | c.173 others(17): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1238895 | CCCTGCAT others(310): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 106 | 0.0094 | -317 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1919775 | ATGGGTGA others(310): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0306 | 1 | 363 | 0.0028 | -317 | c.214 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP5PD_chr17_75033863_75051969 | 75044187 | GCTAATTT others(310): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(184): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0014others(59): Show | 187 | 428 | 0.4369 | -317 | c.-9- others(15): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41572267 | AAACTATT others(310): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0003 | 1 | 164 | 0.0061 | -317 | c.150 others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 15/26 | chrX | TogoVar | ||||||
CCDC117_chr22_28767695_28794295 | 28781333 | TTGTTTTT others(310): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(259): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0012others(147): Show | 262 | 418 | 0.6268 | -317 | c.464 others(15): Show |
CCDC117 | ENSG00000159873.10 | transcript | ENST00000249064.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CNR2_chr1_23865515_23918362 | 23898335 | CTTTTTTT others(310): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0227 | 1 | 268 | 0.0037 | -317 | c.-46 others(19): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134650 | CCCCGAGT others(310): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02738.hp1 others(6): Show |
a0002a0006a0010others(2): Show | a0002c0002a0006c0014a0010c0017others(2): Show | a0002c0002t0002a0006c0014t0002a0010c0017t0019others(2): Show | a0002c0002t0002g0003a0006c0014t0002g0037a0010c0017t0019g0025others(2): Show | 9 | 334 | 0.0270 | -317 | c.*43 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1943 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134875 | ACGGTGCC others(310): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 NA19086.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0002c0002t0002g0003 | 3 | 334 | 0.0090 | -317 | c.*40 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1718 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135145 | CCCGAGTG others(310): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | -317 | c.*38 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1448 | chr12 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212048 | ATTTACTC others(310): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0095 | 1 | 148 | 0.0068 | -317 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63581591 | TTCCTGCC others(310): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG03139.hp1 |
a0004a0006 | a0004c0008a0006c0011 | a0004c0008t0008a0006c0011t0003 | a0004c0008t0008g0193a0004c0008t0008g0194a0006c0011t0003g0102 | 3 | 362 | 0.0083 | -317 | c.172 others(17): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 18/21 | chr12 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377629 | TCCGTGTT others(310): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00738.hp1 others(23): Show |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0001a0012c0021t0001 | a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0016others(20): Show | 26 | 384 | 0.0677 | -317 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ENAH_chr1_225481829_225658123 | 225574614 | AAAAAAGG others(310): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01884.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0002g0106a0001c0001t0007g0148a0001c0001t0007g0219others(18): Show | 21 | 308 | 0.0682 | -317 | c.6-7 others(13): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
FAM168B_chr2_131042876_131098460 | 131086766 | TAAGAGTC others(310): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01257.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0004g0010a0001c0001t0004g0207a0001c0001t0004g0208others(24): Show | 34 | 260 | 0.1308 | -317 | c.-11 others(17): Show |
FAM168B | ENSG00000152102.18 | transcript | ENST00000389915.4 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
GGACT_chr13_100525180_100593789 | 100589809 | GCTCATAT others(310): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01891.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0044a0001c0001t0001g0189others(50): Show | 54 | 376 | 0.1436 | -317 | c.-15 others(11): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 1021 | chr13 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44286299 | TGGAAAAG others(310): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0001g0092others(44): Show | 47 | 150 | 0.3133 | -317 | c.-27 others(11): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 2419 | chr15 | TogoVar | ||||||
GTPBP10_chr7_90341716_90396453 | 90392823 | TAAAAGAA others(310): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00639.hp2 others(74): Show |
a0003a0004a0005 | a0003c0003a0003c0005a0004c0004others(1): Show | a0003c0003t0003a0003c0003t0015a0003c0003t0019others(17): Show | a0003c0003t0003g0004a0003c0003t0003g0022a0003c0003t0003g0028others(54): Show | 77 | 390 | 0.1974 | -317 | c.*76 others(11): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 1371 | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786465 | CCTTTCGT others(310): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0021 | 1 | 156 | 0.0064 | -317 | c.221 others(19): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCTD2_chr17_75042225_75070886 | 75044187 | GCTAATTT others(310): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(174): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0077a0001c0001t0001g0118a0001c0001t0001g0147others(133): Show | 177 | 408 | 0.4338 | -317 | c.-30 others(11): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3037 | chr17 | TogoVar | ||||||
MAPRE2_chr18_35036413_35148470 | 35081990 | TAAAAATA others(310): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(193): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0100others(184): Show | 196 | 370 | 0.5297 | -317 | c.250 others(19): Show |
MAPRE2 | ENSG00000166974.13 | transcript | ENST00000300249.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MYO3A_chr10_25929229_26217532 | 26065822 | CAAAAAGA others(310): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(96): Show |
a0001a0004a0006others(7): Show | a0001c0001a0001c0025a0001c0038others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0107a0001c0001t0001g0114others(96): Show | 99 | 280 | 0.3536 | -317 | c.954 others(16): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYOM3_chr1_24051041_24117135 | 24076495 | TCCCTAAT others(310): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(120): Show |
a0002a0003a0012others(25): Show | a0002c0001a0002c0018a0002c0050others(30): Show | a0002c0001t0001a0002c0018t0001a0002c0050t0001others(32): Show | a0002c0001t0001g0007a0002c0001t0001g0070a0002c0001t0001g0071others(117): Show | 123 | 364 | 0.3379 | -317 | c.258 others(17): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 20/36 | chr1 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55984381 | GCAGTGGC others(310): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG01943.hp1 others(9): Show |
a0000a0015 | a0000c0011a0000c0021a0000c0058others(1): Show | a0000c0011t0001a0000c0011t0006a0000c0021t0036others(3): Show | a0000c0011t0001g0021a0000c0011t0006g0003a0000c0011t0006g0017others(7): Show | 12 | 350 | 0.0343 | -317 | c.304 others(19): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NSMCE2_chr8_125086860_125372120 | 125324555 | TCCATTTT others(310): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(63): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0026others(63): Show | 66 | 244 | 0.2705 | -317 | c.419 others(19): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
OR5AP2_chr11_56636489_56647439 | 56640464 | GCACACTA others(310): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 8 | 438 | 0.0183 | -317 | c.*70 others(10): Show |
OR5AP2 | ENSG00000172464.4 | transcript | ENST00000544374.3 | protein_coding | 1024 | chr11 | TogoVar |