view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1838): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 | 1 | 127 | 0.0079 | 1845 | c.-95 others(1864): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298376 | A | AGAACCCT others(1838): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0147 | 1 | 44 | 0.0227 | 1845 | c.811 others(1862): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(1838): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0003 | a0003c0088 | a0003c0088t0004 | a0003c0088t0004g0061 | 1 | 145 | 0.0069 | 1845 | c.193 others(1864): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185031 | T | TTTCCCCT others(1838): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0021 | a0021c0012 | a0021c0012t0001 | a0021c0012t0001g0173 | 1 | 170 | 0.0059 | 1845 | c.193 others(1864): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(1838): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 3 | 0.3333 | 1845 | c.-16 others(1856): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(1838): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 159 | 0.0063 | 1845 | c.224 others(1864): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776246 | A | ACAGTCAT others(1838): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0013 | a0013c0022 | a0013c0022t0002 | a0013c0022t0002g0171 | 1 | 247 | 0.0040 | 1845 | c.129 others(1866): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1838): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02922.hp1 others(1): Show |
a0005a0010 | a0005c0059a0010c0019a0010c0070 | a0005c0059t0001a0010c0019t0001a0010c0070t0001 | a0005c0059t0001g0244 a0010c0019t0001g0137 a0010c0019t0001g0201 others(1): Show |
4 | 15 | 0.2667 | 1845 | c.228 others(1862): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1838): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0334 | 1 | 12 | 0.0833 | 1845 | c.228 others(1862): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1838): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0037 | a0037c0094 | a0037c0094t0001 | a0037c0094t0001g0134 | 1 | 12 | 0.0833 | 1845 | c.228 others(1862): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393270 | T | TCTCGGTT others(1838): Show |
intron_variant | MODIFIER | HG03540.hp1 HG06807.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0044 | a0001c0001t0006g0109 a0001c0001t0006g0136 a0001c0001t0008g0047 others(1): Show |
4 | 154 | 0.0260 | 1845 | c.107 others(1864): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1838): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 177 | 0.0169 | 1845 | c.*49 others(1856): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1838): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 175 | 0.0057 | 1845 | c.*49 others(1856): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1838): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 175 | 0.0057 | 1845 | c.*49 others(1856): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1838): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0294 | 1 | 9 | 0.1111 | 1845 | c.*39 others(1856): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1838): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 | 1 | 210 | 0.0048 | 1845 | c.*22 others(1856): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1838): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1845 | c.-20 others(1856): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1838): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0262 | 1 | 126 | 0.0079 | 1845 | c.45- others(1860): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1838): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 126 | 0.0079 | 1845 | c.45- others(1860): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1838): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0117 | 1 | 107 | 0.0093 | 1845 | c.614 others(1862): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1838): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01361.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0078 a0001c0001t0003g0052 a0001c0001t0004g0021 others(12): Show |
15 | 121 | 0.1240 | 1845 | c.614 others(1862): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1838): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0082 | 1 | 107 | 0.0093 | 1845 | c.614 others(1862): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1838): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 107 | 0.0093 | 1845 | c.614 others(1862): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(1838): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0023 | 1 | 107 | 0.0093 | 1845 | c.614 others(1862): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1838): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0016 | a0001c0016t0031 | a0001c0016t0031g0010 a0001c0016t0031g0011 |
2 | 5 | 0.4000 | 1845 | c.291 others(1864): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1838): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0026 | a0001c0026t0043 | a0001c0026t0043g0099 | 1 | 4 | 0.2500 | 1845 | c.291 others(1864): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1838): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0006a0001c0007a0001c0066others(1): Show | a0001c0006t0087a0001c0007t0069a0001c0007t0084others(3): Show | a0001c0006t0087g0013 a0001c0007t0069g0128 a0001c0007t0084g0007 others(3): Show |
6 | 9 | 0.6667 | 1845 | c.291 others(1864): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1838): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0005a0001c0016a0001c0029others(4): Show | a0001c0005t0026a0001c0005t0067a0001c0005t0074others(8): Show | a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(9): Show |
12 | 15 | 0.8000 | 1845 | c.291 others(1864): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1838): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(12): Show |
a0001 | a0001c0010a0001c0019a0001c0022others(10): Show | a0001c0010t0032a0001c0019t0042a0001c0022t0001others(11): Show | a0001c0010t0032g0058 a0001c0019t0042g0092 a0001c0022t0001g0130 others(12): Show |
15 | 18 | 0.8333 | 1845 | c.291 others(1864): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670432 | T | TCCGTGCA others(1838): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03139.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 a0001c0003t0002g0040 |
5 | 389 | 0.0129 | 1845 | c.129 others(1862): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670482 | T | TCCGTGCA others(1838): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 314 | 0.0032 | 1845 | c.129 others(1862): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1838): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 317 | 0.0032 | 1845 | c.114 others(1862): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1839): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 50 | 0.0200 | 1846 | c.147 others(1863): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1839): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 76 | 0.0132 | 1846 | c.955 others(1863): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648025 | G | GACACCCA others(1839): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 385 | 0.0026 | 1846 | c.253 others(1861): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725555 | C | CGGTGGAT others(1839): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 128 | 0.0078 | 1846 | c.340 others(1863): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGAGG others(1839): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0006 | 1 | 37 | 0.0270 | 1846 | c.158 others(1863): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706357 | C | CATAGATA others(1839): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0009 | a0009c0041 | a0009c0041t0001 | a0009c0041t0001g0094 | 1 | 171 | 0.0058 | 1846 | c.228 others(1863): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706357 | C | CATAGATA others(1839): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0325 | 1 | 218 | 0.0046 | 1846 | c.-50 others(1857): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4843 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(1839): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0247 | 1 | 251 | 0.0040 | 1846 | c.-23 others(1857): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953651 | A | ACACCCAC others(1839): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0096 | 1 | 179 | 0.0056 | 1846 | c.503 others(1861): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1839): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174 | 1 | 3 | 0.3333 | 1846 | c.-12 others(1865): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1839): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0202 | 1 | 12 | 0.0833 | 1846 | c.228 others(1863): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124271 | A | AGGATCAT others(1839): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 197 | 0.0051 | 1846 | c.335 others(1865): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467213 | G | GGGGAGGG others(1839): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0009 | 1 | 239 | 0.0042 | 1846 | c.*83 others(1855): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 704 | chrX | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1840): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0106 | 1 | 76 | 0.0132 | 1847 | c.955 others(1864): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004539 | G | GTGATGAT others(1840): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0031 a0013c0017t0001g0032 a0013c0017t0001g0038 |
3 | 172 | 0.0174 | 1847 | c.963 others(1864): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232020 | A | ACCACTAC others(1840): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 324 | 0.0031 | 1847 | c.513 others(1864): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(1840): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02698.hp2 HG02922.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0003t0008a0001c0006t0003others(5): Show | a0001c0001t0006g0119 a0001c0003t0008g0156 a0001c0006t0003g0132 others(8): Show |
11 | 35 | 0.3143 | 1847 | c.206 others(1868): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(1840): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0003a0002c0002t0012a0002c0004t0003others(1): Show | a0001c0003t0003g0149 a0002c0002t0012g0004 a0002c0004t0003g0112 others(1): Show |
4 | 28 | 0.1429 | 1847 | c.206 others(1868): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |