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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(888): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02738.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0009others(2): Show | a0001c0001t0004g0060a0001c0001t0004g0101a0001c0001t0009g0025others(3): Show | 6 | 114 | 0.0526 | 895 | c.56- others(912): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(888): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0040 | 1 | 114 | 0.0088 | 895 | c.56- others(912): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(888): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 895 | c.-42 others(906): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(888): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 895 | c.-42 others(906): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(888): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0013 | a0001c0013t0037 | a0001c0013t0037g0224 | 1 | 276 | 0.0036 | 895 | c.100 others(914): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(888): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 318 | 0.0031 | 895 | c.-49 others(906): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189697 | A | ATATATAT others(888): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 330 | 0.0030 | 895 | c.-5+ others(910): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(888): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02129.hp1 |
a0001 | a0001c0013a0001c0024 | a0001c0013t0003a0001c0024t0001 | a0001c0013t0003g0223a0001c0024t0001g0224 | 2 | 324 | 0.0062 | 895 | c.141 others(912): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(888): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0019a0001c0001t0002g0024others(6): Show | 9 | 350 | 0.0257 | 895 | c.734 others(912): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(888): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02735.hp2 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0096a0001c0001t0002g0112a0001c0001t0002g0127others(3): Show | 7 | 350 | 0.0200 | 895 | c.734 others(912): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(888): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02922.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031a0001c0002t0001g0052a0001c0002t0001g0054 | 4 | 426 | 0.0094 | 895 | c.273 others(910): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 397978 | G | GTACCCCC others(888): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0019 | a0019c0017 | a0019c0017t0001 | a0019c0017t0001g0109 | 1 | 216 | 0.0046 | 895 | c.106 others(912): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151855474 | C | CCACACAC others(888): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 252 | 0.0040 | 895 | c.114 others(914): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(888): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0129 | 2 | 220 | 0.0091 | 895 | c.24+ others(912): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(888): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0168 | 1 | 220 | 0.0046 | 895 | c.24+ others(912): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(888): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0036 | a0001c0001t0023g0047a0001c0001t0036g0032 | 2 | 68 | 0.0294 | 895 | c.27+ others(912): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(888): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 334 | 0.0030 | 895 | c.45- others(910): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(888): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0213 | 1 | 314 | 0.0032 | 895 | c.916 others(912): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(888): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 280 | 0.0036 | 895 | c.89- others(908): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873392 | A | ATCCTATC others(888): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0110 | 1 | 362 | 0.0028 | 895 | c.757 others(912): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873402 | A | ATCCTATC others(888): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 362 | 0.0028 | 895 | c.757 others(912): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222999 | T | TCTCCCTG others(888): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0094 | 1 | 190 | 0.0053 | 895 | c.719 others(914): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 642198 | G | GGGGGGGG others(888): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 422 | 0.0024 | 895 | c.*65 others(906): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4416 | chr20 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637371 | C | CTATAATT others(888): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0086 | 1 | 268 | 0.0037 | 895 | c.*72 others(906): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3837 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(888): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 NA19070.hp2 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0064a0001c0002t0002g0088 | 3 | 268 | 0.0112 | 895 | c.*73 others(906): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(888): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 268 | 0.0037 | 895 | c.*73 others(906): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(888): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 112 | 0.0089 | 895 | c.638 others(910): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(888): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02451.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0165a0001c0001t0002g0169a0001c0001t0002g0170others(10): Show | 14 | 378 | 0.0370 | 895 | c.819 others(912): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377288 | C | CCTGTGCC others(888): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0267 | 1 | 370 | 0.0027 | 895 | c.-13 others(906): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1263 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377293 | G | GCCCCACC others(888): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 370 | 0.0027 | 895 | c.-13 others(906): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1268 | chr19 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(888): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 334 | 0.0030 | 895 | c.657 others(910): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370222 | T | TGTGTGTG others(888): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 468 | 0.0021 | 895 | c.-6- others(910): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(888): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 | 1 | 468 | 0.0021 | 895 | c.-6- others(910): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(888): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0006a0001c0002t0007g0006 | 3 | 468 | 0.0064 | 895 | c.-6- others(910): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(888): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0167 | 1 | 468 | 0.0021 | 895 | c.-6- others(910): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(888): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 202 | 0.0050 | 895 | c.*53 others(906): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(888): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0010 | 1 | 202 | 0.0050 | 895 | c.*53 others(906): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024762 | G | GCTATGAT others(888): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 144 | 0.0069 | 895 | c.427 others(914): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
WDR7_chr18_56646359_57034792 | 57024856 | G | GATTTCAC others(888): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 144 | 0.0069 | 895 | c.427 others(914): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
XKR6_chr8_10891045_11206833 | 11026671 | G | GTTGCCTA others(888): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0072 | 1 | 178 | 0.0056 | 895 | c.765 others(916): Show |
XKR6 | ENSG00000171044.11 | transcript | ENST00000416569.3 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 754461 | C | CCTGTGAG others(888): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02074.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0069a0001c0003t0002g0072 | 2 | 271 | 0.0074 | 895 | c.503 others(910): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76967266 | T | TATTTGGT others(888): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG02258.hp1 others(14): Show |
a0001a0003a0006others(1): Show | a0001c0006a0003c0008a0003c0023others(4): Show | a0001c0006t0007a0003c0008t0008a0003c0008t0021others(5): Show | a0001c0006t0007g0306a0003c0008t0008g0311a0003c0008t0008g0312others(14): Show | 17 | 346 | 0.0491 | 895 | c.542 others(912): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF236_chr18_76817557_76977901 | 76967266 | T | TATTTGGT others(888): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0087a0001c0006t0007g0157a0001c0006t0007g0159others(1): Show | 4 | 346 | 0.0116 | 895 | c.542 others(912): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(889): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 306 | 0.0033 | 896 | c.130 others(915): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(889): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18960.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0101a0002c0002t0004g0100 | 2 | 182 | 0.0110 | 896 | c.505 others(915): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418998 | C | CCCTCCCT others(889): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0014 | a0014c0048 | a0014c0048t0037 | a0014c0048t0037g0127 | 1 | 262 | 0.0038 | 896 | c.106 others(915): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419044 | C | CCCTTCCT others(889): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 262 | 0.0038 | 896 | c.106 others(915): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(889): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 210 | 0.0048 | 896 | c.273 others(913): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406452 | A | AGGCTTCC others(889): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152 | 1 | 210 | 0.0048 | 896 | c.*31 others(907): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 775 | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(889): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 |
a0014a0028 | a0014c0023a0028c0073 | a0014c0023t0001a0028c0073t0002 | a0014c0023t0001g0043a0028c0073t0002g0281 | 2 | 300 | 0.0067 | 896 | c.654 others(915): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar |