| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FOXQ1_chr6_1307098_1319758 | 1319067 | TGGTGGCG others(684): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 406 | 0.0049 | -691 | c.*51 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4310 | chr6 | TogoVar | ||||||
| GCNT3_chr15_59606783_59627723 | 59610148 | TGCCTGCC others(684): Show |
T | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0001 | 1 | 428 | 0.0023 | -691 | c.-20 others(11): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1634 | chr15 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 332431 | TGCTGGGA others(684): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0012a0001c0005t0002g0109a0001c0005t0002g0110others(2): Show | 6 | 384 | 0.0156 | -691 | c.243 others(17): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237543097 | GACAGTGG others(684): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 286 | 0.0035 | -691 | c.153 others(18): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
| NR2C2_chr3_14942583_15054273 | 14971156 | CGCCCAGG others(684): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0029a0001c0001t0030 | a0001c0001t0012g0076a0001c0001t0012g0284a0001c0001t0012g0285others(3): Show | 6 | 308 | 0.0195 | -691 | c.-40 others(19): Show |
NR2C2 | ENSG00000177463.16 | transcript | ENST00000425241.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| AFDN_chr6_167821911_167977023 | 167940707 | ATGTGTGG others(683): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0200a0001c0005t0008g0201 | 2 | 326 | 0.0061 | -690 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CAMSAP3_chr19_7590863_7623304 | 7599448 | TCCATCCA others(683): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0209a0001c0001t0001g0210others(11): Show | 14 | 358 | 0.0391 | -690 | c.148 others(17): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2280848 | AGAGGGAG others(683): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0009 | a0007c0009t0013 | a0007c0009t0013g0005 | 1 | 50 | 0.0200 | -690 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467442 | AGAGGGCG others(683): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0109 | 1 | 418 | 0.0024 | -690 | c.*54 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 153 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467606 | GTCTGACA others(683): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(177): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(98): Show | 180 | 418 | 0.4306 | -690 | c.*70 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 317 | chr5 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79886409 | CGGGACAG others(683): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 312 | 0.0032 | -690 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PPP1R12C_chr19_55085918_55122637 | 55093348 | CCCAGCCC others(683): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0100a0001c0003t0003g0079 | 2 | 390 | 0.0051 | -690 | c.168 others(17): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 13/21 | chr19 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 467442 | AGAGGGCG others(683): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 218 | 0.0046 | -690 | c.*52 others(11): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3013 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 467606 | GTCTGACA others(683): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0014others(110): Show | 113 | 218 | 0.5184 | -690 | c.*50 others(11): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2849 | chr5 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133135986 | GGGGTCTC others(682): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0021others(11): Show | a0001c0001t0005g0002a0001c0001t0005g0011a0001c0001t0005g0039others(30): Show | 37 | 368 | 0.1005 | -689 | c.*64 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4312 | chr10 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105276819 | CGAGAGGC others(682): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0046a0001c0001t0002g0035a0001c0001t0010g0002 | 3 | 72 | 0.0417 | -689 | c.266 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | ||||||
| C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(682): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 NA18997.hp2 |
a0002a0003 | a0002c0002a0003c0003a0003c0009 | a0002c0002t0001a0003c0003t0001a0003c0009t0002 | a0002c0002t0001g0088a0003c0003t0001g0109a0003c0009t0002g0194 | 3 | 320 | 0.0094 | -689 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
| C17orf99_chr17_78141385_78171297 | 78157427 | GGCAGATG others(681): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135a0001c0001t0004g0136 | 2 | 446 | 0.0045 | -688 | c.71- others(15): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61783763 | TAGTTCCT others(681): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0041 | 1 | 106 | 0.0094 | -688 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| FGF12_chr3_192134390_192732541 | 192404985 | CTAGTTGA others(681): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0003g0074a0001c0001t0005g0075a0001c0001t0013g0036others(3): Show | 6 | 90 | 0.0667 | -688 | c.14- others(17): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| GRXCR1_chr4_42887713_43035658 | 42903148 | TGGCTTTA others(681): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(64): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0007 | a0002c0002t0001g0213a0002c0002t0001g0214a0002c0002t0001g0216others(64): Show | 67 | 338 | 0.1982 | -688 | c.384 others(18): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085493 | TCACTGTT others(681): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0375 | 1 | 403 | 0.0025 | -688 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085542 | GCCCCACT others(681): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 |
a0001a0071 | a0001c0009a0071c0087 | a0001c0009t0001a0071c0087t0002 | a0001c0009t0001g0204a0071c0087t0002g0228 | 2 | 403 | 0.0050 | -688 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PPP1R12C_chr19_55085918_55122637 | 55093420 | CCCCAGCC others(681): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0076 | 1 | 390 | 0.0026 | -688 | c.168 others(17): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 13/21 | chr19 | TogoVar | ||||||
| SLC31A2_chr9_113146007_113169140 | 113147205 | AGTATTTG others(681): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp1 NA18950.hp2 NA18966.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 458 | 0.0175 | -688 | c.-38 others(11): Show |
SLC31A2 | ENSG00000136867.11 | transcript | ENST00000259392.8 | protein_coding | 3801 | chr9 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920799 | TGAGGAGA others(681): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 352 | 0.0028 | -688 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134524327 | TGTTTTTT others(681): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02027.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0035a0001c0001t0001g0053others(23): Show | 26 | 222 | 0.1171 | -688 | c.459 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53924363 | TCCCCAGG others(680): Show |
T | intron_variant | MODIFIER | NA18982.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0132 | 2 | 364 | 0.0055 | -687 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FRAS1_chr4_78052323_78549269 | 78470797 | AGGGACAA others(680): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0146 | 1 | 178 | 0.0056 | -687 | c.737 others(17): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RGS12_chr4_3288021_3444913 | 3309154 | GGGGAACC others(680): Show |
G | intron_variant | MODIFIER | HG02523.hp1 | a0006 | a0006c0015 | a0006c0015t0002 | a0006c0015t0002g0094 | 1 | 312 | 0.0032 | -687 | c.-10 others(19): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79920570 | GAGGAGAG others(680): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187a0001c0001t0005g0235 | 2 | 352 | 0.0057 | -687 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940595 | GTGTGGAC others(679): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 |
a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0279a0001c0012t0003g0280 | 2 | 326 | 0.0061 | -686 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 321849 | CTGTTAGA others(679): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 88 | 0.0114 | -686 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321996 | CTGTTAGA others(679): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 | 1 | 88 | 0.0114 | -686 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| FGGY_chr1_59292094_59767730 | 59583302 | GATTCTGA others(679): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01981.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0134a0001c0001t0001g0136others(24): Show | 27 | 166 | 0.1627 | -686 | c.904 others(19): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 8/15 | chr1 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(679): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0095 | 1 | 183 | 0.0055 | -686 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085572 | ACTGTTGT others(679): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02273.hp1 HG02293.hp1 |
a0003a0019 | a0003c0004a0019c0058 | a0003c0004t0001a0019c0058t0001 | a0003c0004t0001g0326a0003c0004t0001g0327a0019c0058t0001g0157 | 3 | 403 | 0.0074 | -686 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGAP42_chr11_100682288_100998941 | 100998256 | CTGTTTAG others(678): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0142 | 1 | 286 | 0.0035 | -685 | c.*94 others(12): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 4316 | chr11 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57495311 | CATTTTGG others(678): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02818.hp2 others(1): Show |
a0001a0009a0054 | a0001c0001a0009c0025a0054c0094 | a0001c0001t0003a0009c0025t0003a0054c0094t0003 | a0001c0001t0003g0001a0001c0001t0003g0003a0009c0025t0003g0004others(1): Show | 4 | 266 | 0.0150 | -685 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675485 | CGGCGAGG others(678): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 378 | 0.0027 | -685 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| IDO2_chr8_39929651_40021392 | 39975224 | GGCGTGAT others(678): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0131 | 1 | 360 | 0.0028 | -685 | c.196 others(17): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 859011 | GCAGTGGT others(678): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0082a0001c0006t0001g0285a0001c0006t0001g0286others(1): Show | 4 | 294 | 0.0136 | -685 | c.153 others(19): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919884 | GAGGAGAG others(678): Show |
G | intron_variant | MODIFIER | HG02300.hp2 NA18966.hp1 NA18999.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0004g0251a0001c0001t0010g0165a0001c0001t0017g0167others(3): Show | 6 | 352 | 0.0171 | -685 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1540484 | GTAGTTCA others(677): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0029a0001c0001t0052a0001c0007t0066others(2): Show | a0001c0001t0029g0031a0001c0001t0052g0062a0001c0007t0066g0105others(2): Show | 5 | 106 | 0.0472 | -684 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1540485 | TAGTTCAG others(677): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0009a0001c0001t0023a0001c0001t0059others(7): Show | a0001c0001t0009g0055a0001c0001t0023g0023a0001c0001t0059g0092others(7): Show | 10 | 106 | 0.0943 | -684 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44800965 | TCCAGCCC others(677): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG03130.hp2 others(2): Show |
a0001a0003 | a0001c0006a0003c0005 | a0001c0006t0001a0003c0005t0001 | a0001c0006t0001g0052a0001c0006t0001g0053a0003c0005t0001g0054others(2): Show | 5 | 344 | 0.0145 | -684 | c.*42 others(10): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 314 | chr19 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 856890 | GTGGTGGT others(677): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0055a0001c0001t0015g0036 | 2 | 287 | 0.0070 | -684 | c.-27 others(11): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2773 | chr19 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137818931 | CTGAGGGG others(677): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 170 | 0.0059 | -684 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ELANE_chr19_847303_861243 | 856890 | GTGGTGGT others(677): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 403 | 0.0050 | -684 | c.*72 others(10): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 648 | chr19 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1319074 | GCACGCCT others(677): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG01891.hp1 others(13): Show |
a0004 | a0004c0006a0004c0012 | a0004c0006t0001a0004c0006t0018a0004c0012t0001 | a0004c0006t0001g0000a0004c0006t0018g0000a0004c0012t0001g0000 | 16 | 406 | 0.0394 | -684 | c.*51 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4317 | chr6 | TogoVar |