| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EFHD1_chr2_232628604_232687776 | 232648386 | TGGGAGTG others(1847): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0039 | 1 | 382 | 0.0026 | -1854 | c.302 others(19): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805559 | CTCCCCCC others(1846): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 NA18971.hp1 NA19007.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0123a0003c0003t0001g0039a0003c0003t0001g0074others(1): Show | 4 | 314 | 0.0127 | -1853 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1273 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805554 | CCACCCTC others(1846): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0116 | 1 | 319 | 0.0031 | -1853 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3638 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805559 | CTCCCCCC others(1846): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18971.hp2 NA19007.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0001a0001c0004t0001a0002c0008t0002 | a0001c0001t0001g0001a0001c0004t0001g0005a0001c0004t0001g0105others(1): Show | 4 | 319 | 0.0125 | -1853 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3633 | chr2 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1117495 | TCCCCAGC others(1845): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0246 | 1 | 337 | 0.0030 | -1852 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235668 | CCCTCCCG others(1845): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0032 | 1 | 106 | 0.0094 | -1852 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805673 | TCCCCCCT others(1845): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0237 | 1 | 314 | 0.0032 | -1852 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1387 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805673 | TCCCCCCT others(1845): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 319 | 0.0031 | -1852 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3519 | chr2 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47504552 | ATGGGCAA others(1843): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(3): Show | 6 | 340 | 0.0177 | -1850 | c.-15 others(19): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
| COTL1_chr16_84560596_84623078 | 84561109 | TGGGAGGC others(1842): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 440 | 0.0023 | -1849 | c.*38 others(11): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 4486 | chr16 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805563 | CCCCTCAG others(1842): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 314 | 0.0032 | -1849 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1277 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805563 | CCCCTCAG others(1842): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0014 | 1 | 319 | 0.0031 | -1849 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3629 | chr2 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1841): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0009others(5): Show | a0001c0001t0003g0073a0001c0001t0003g0182a0001c0001t0005g0216others(7): Show | 10 | 236 | 0.0424 | -1848 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113067208 | GCGGAGGC others(1841): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 | 1 | 116 | 0.0086 | -1848 | c.881 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FKBP3_chr14_45110599_45139481 | 45126264 | TGGATCAC others(1840): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 NA18954.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0136 | 7 | 304 | 0.0230 | -1847 | c.318 others(17): Show |
FKBP3 | ENSG00000100442.11 | transcript | ENST00000396062.4 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
| SHLD1_chr20_5745401_5869395 | 5808909 | TATTATCG others(1839): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 328 | 0.0031 | -1846 | c.178 others(19): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RGL2_chr6_33286654_33303942 | 33301384 | GCCAACAT others(1838): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 2 | 393 | 0.0051 | -1845 | c.-44 others(11): Show |
RGL2 | ENSG00000237441.10 | transcript | ENST00000497454.6 | protein_coding | 2443 | chr6 | TogoVar | ||||||
| TAPBP_chr6_33294694_33319078 | 33301384 | GCCAACAT others(1838): Show |
G | stop_lost others(2): Show |
HIGH | HG02896.hp2 HG02897.hp1 |
a0000 | a0000c0008 | a0000c0008t0017 | a0000c0008t0017g0032 | 2 | 385 | 0.0052 | -1845 | c.133 others(13): Show |
TAPBP | ENSG00000231925.14 | transcript | ENST00000434618.7 | protein_coding | 8/8 | 1759/3450 | 1336/1347 | 446/448 | chr6 | TogoVar | |||
| CMBL_chr5_10272595_10312902 | 10273117 | GGGGATTA others(1837): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0169a0001c0001t0003g0020others(84): Show | 109 | 350 | 0.3114 | -1844 | c.*54 others(11): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4477 | chr5 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82974916 | CCAGGGCC others(1836): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0134a0001c0002t0016g0135 | 2 | 266 | 0.0075 | -1843 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429926 | CGGTCTGG others(1836): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0258 | 1 | 360 | 0.0028 | -1843 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUBPL_chr14_31556404_31866224 | 31745533 | ATCCACCC others(1836): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0021a0001c0003t0027 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0004others(3): Show | 6 | 268 | 0.0224 | -1843 | c.514 others(19): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| POLR2F_chr22_37948699_37974312 | 37960945 | ATCACGCC others(1835): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 404 | 0.0025 | -1842 | c.221 others(17): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBXL17_chr5_107854035_108387098 | 108212084 | TCAATGAT others(1834): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0132a0001c0001t0004g0131 | 2 | 244 | 0.0082 | -1841 | c.161 others(21): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
| WDPCP_chr2_63114559_63593477 | 63463864 | TAGAGAGA others(1834): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 216 | 0.0046 | -1841 | c.384 others(19): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 6/17 | chr2 | TogoVar | ||||||
| YIPF1_chr1_53846733_53894797 | 53885842 | AGAAAAAG others(1833): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170a0001c0001t0003g0235 | 2 | 360 | 0.0056 | -1840 | c.31+ others(15): Show |
YIPF1 | ENSG00000058799.15 | transcript | ENST00000072644.7 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
| ZNF846_chr19_9750357_9773738 | 9759318 | TGGGCTGG others(1833): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0000 | a0000c0004 | a0000c0004t0009 | a0000c0004t0009g0009a0000c0004t0009g0250a0000c0004t0009g0251others(1): Show | 7 | 372 | 0.0188 | -1840 | c.229 others(15): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1832): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02004.hp2 others(20): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0013others(2): Show | a0001c0001t0002g0008a0001c0001t0002g0017a0001c0002t0002g0002others(3): Show | 23 | 394 | 0.0584 | -1839 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | ||||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1831): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp2 HG01952.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017 | a0001c0002t0002g0002a0001c0002t0002g0031a0001c0002t0002g0034others(1): Show | 18 | 394 | 0.0457 | -1838 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | ||||||
| FAM90A10_chr8_7763977_7776988 | 7764345 | GCAGGTGG others(1830): Show |
G | upstream_gene_variant | MODIFIER | HG01258.hp2 NA18982.hp2 |
a0007a0008 | a0007c0008a0008c0022 | a0007c0008t0000a0008c0022t0000 | a0007c0008t0000g0001a0008c0022t0000g0009 | 2 | 127 | 0.0158 | -1837 | c.-46 others(11): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 4631 | chr8 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919593 | CCGAGGGA others(1830): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0044 | a0001c0001t0014g0316a0001c0001t0015g0270a0001c0001t0044g0314 | 3 | 352 | 0.0085 | -1837 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| TIAM2_chr6_154990315_155262723 | 154991201 | GGGTAGAT others(1830): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01433.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0014a0001c0018t0007 | a0001c0001t0014g0228a0001c0018t0007g0220a0001c0018t0007g0221 | 3 | 230 | 0.0130 | -1837 | c.-44 others(11): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 4113 | chr6 | TogoVar | ||||||
| C2CD6_chr2_201482421_201624178 | 201502901 | TTTTTTTT others(1829): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 270 | 0.0037 | -1836 | c.150 others(19): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
| FAM90A16_chr8_7725739_7738749 | 7726106 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0019 | a0019c0024 | a0019c0024t0000 | a0019c0024t0000g0012 | 1 | 70 | 0.0143 | -1836 | c.-46 others(11): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 4632 | chr8 | TogoVar | ||||||
| FAM90A16_chr8_7725739_7738749 | 7733754 | GCAGGTGG others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0019 | a0019c0024 | a0019c0024t0000 | a0019c0024t0000g0012 | 1 | 70 | 0.0143 | -1836 | c.*6_ others(8): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 6 | chr8 | TogoVar | ||||||
| FAM90A19_chr8_7748682_7761692 | 7749049 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0019 | a0019c0024 | a0019c0024t0000 | a0019c0024t0000g0019 | 1 | 116 | 0.0086 | -1836 | c.-46 others(11): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 4632 | chr8 | TogoVar | ||||||
| FAM90A19_chr8_7748682_7761692 | 7756697 | GCAGGTGG others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0019 | a0019c0024 | a0019c0024t0000 | a0019c0024t0000g0019 | 1 | 116 | 0.0086 | -1836 | c.*6_ others(8): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 6 | chr8 | TogoVar | ||||||
| FAM90A22_chr8_7566995_7580006 | 7570151 | GTGTTAGC others(1829): Show |
G | downstream_gene_variant | MODIFIER | NA18940.hp2 NA19084.hp1 |
a0009 | a0009c0012 | a0009c0012t0000 | a0009c0012t0000g0005 | 2 | 88 | 0.0227 | -1836 | c.*8_ others(8): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 1843 | chr8 | TogoVar | ||||||
| FAM90A22_chr8_7566995_7580006 | 7577800 | GTGTTAGC others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02080.hp1 NA18747.hp2 others(11): Show |
a0002a0009a0024others(2): Show | a0002c0001a0009c0012a0024c0026others(2): Show | a0002c0001t0000a0009c0012t0000a0024c0026t0000others(2): Show | a0002c0001t0000g0001a0002c0001t0000g0017a0009c0012t0000g0005others(3): Show | 14 | 88 | 0.1591 | -1836 | c.-46 others(11): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 2795 | chr8 | TogoVar | ||||||
| FAM90A23_chr8_7574644_7587653 | 7577800 | GTGTTAGC others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01515.hp1 others(16): Show |
a0003a0006a0019others(3): Show | a0003c0004a0003c0025a0006c0007others(4): Show | a0003c0004t0000a0003c0025t0000a0006c0007t0000others(4): Show | a0003c0004t0000g0004a0003c0004t0000g0010a0003c0004t0000g0027others(8): Show | 19 | 142 | 0.1338 | -1836 | c.*8_ others(8): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 1843 | chr8 | TogoVar | ||||||
| FAM90A9_chr8_7756330_7769340 | 7756697 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 HG02080.hp2 NA18962.hp2 |
a0006a0009a0011 | a0006c0006a0009c0009a0011c0011 | a0006c0006t0000a0009c0009t0000a0011c0011t0000 | a0006c0006t0000g0006a0009c0009t0000g0002a0011c0011t0000g0010 | 3 | 92 | 0.0326 | -1836 | c.-46 others(11): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 4632 | chr8 | TogoVar | ||||||
| RBFOX1_chr16_7327845_7718340 | 7371856 | GTGTGACT others(1829): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0159a0001c0001t0040g0185 | 2 | 234 | 0.0086 | -1836 | c.87+ others(17): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RMND5B_chr5_178126014_178155568 | 178132058 | ATTCCAGC others(1829): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 412 | 0.0024 | -1836 | c.-13 others(16): Show |
RMND5B | ENSG00000145916.19 | transcript | ENST00000313386.9 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
| GPR141_chr7_37678766_37748835 | 37747001 | CCGCTCCC others(1827): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 400 | 0.0025 | -1834 | c.*56 others(11): Show |
GPR141 | ENSG00000187037.9 | transcript | ENST00000334425.2 | protein_coding | 3167 | chr7 | TogoVar | ||||||
| YIPF1_chr1_53846733_53894797 | 53885848 | AGAGTATA others(1827): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0171a0001c0001t0003g0172 | 4 | 360 | 0.0111 | -1834 | c.31+ others(15): Show |
YIPF1 | ENSG00000058799.15 | transcript | ENST00000072644.7 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
| PRODH_chr22_18907781_18941293 | 18939460 | ATGATGAA others(1826): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp2 others(13): Show |
a0001a0003a0009others(3): Show | a0001c0009a0003c0003a0003c0026others(4): Show | a0001c0009t0001a0003c0003t0001a0003c0026t0001others(4): Show | a0001c0009t0001g0004a0003c0003t0001g0202a0003c0026t0001g0040others(6): Show | 16 | 409 | 0.0391 | -1833 | c.-50 others(11): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 3168 | chr22 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35372683 | GTGCAAGA others(1826): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 224 | 0.0045 | -1833 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1825): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 394 | 0.0025 | -1832 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | ||||||
| DLG2_chr11_83450173_85632344 | 85537506 | AGGGATGA others(1823): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | -1830 | c.40+ others(17): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320432 | TCAGAGAT others(1823): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02818.hp1 others(4): Show |
a0001a0002a0005others(3): Show | a0001c0030a0002c0075a0005c0144others(4): Show | a0001c0030t0001a0002c0075t0003a0005c0144t0004others(4): Show | a0001c0030t0001g0065a0002c0075t0003g0085a0005c0144t0004g0028others(4): Show | 7 | 256 | 0.0273 | -1830 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |