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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(889): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 220 | 0.0046 | 896 | c.24+ others(913): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7146991 | T | TTGAGATG others(889): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0059a0001c0001t0032g0068 | 2 | 68 | 0.0294 | 896 | c.27+ others(913): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(889): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 304 | 0.0033 | 896 | c.66+ others(911): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(889): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 304 | 0.0033 | 896 | c.66+ others(911): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 273051 | A | AGAGACCC others(889): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 133 | 0.0075 | 896 | c.438 others(913): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142209 | T | TCACGATC others(889): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0006a0001c0011 | a0001c0006t0001a0001c0006t0006a0001c0011t0001 | a0001c0006t0001g0013a0001c0006t0001g0039a0001c0006t0001g0056others(3): Show | 6 | 203 | 0.0296 | 896 | c.279 others(913): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27919290 | A | AATGGGAG others(889): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0313 | 1 | 314 | 0.0032 | 896 | c.916 others(913): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCCAC others(889): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0028 | a0004c0028t0009 | a0004c0028t0009g0044 | 1 | 280 | 0.0036 | 896 | c.89- others(909): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260753 | C | CAGCATTA others(889): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 266 | 0.0038 | 896 | c.*43 others(907): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3672 | chr5 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248711 | G | GGTGCATG others(889): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0030 | a0001c0006t0030g0234a0001c0006t0030g0295 | 2 | 306 | 0.0065 | 896 | c.*12 others(909): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2493 | chr11 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(889): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0294 | 1 | 420 | 0.0024 | 896 | c.107 others(913): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642198 | G | GGGGGGGG others(889): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 422 | 0.0024 | 896 | c.*65 others(907): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4416 | chr20 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273665 | A | ACATCAGA others(889): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18985.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0339a0001c0003t0001g0260 | 2 | 392 | 0.0051 | 896 | c.228 others(915): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
THEG_chr19_356747_381026 | 360425 | C | CAGGAGCA others(889): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0012 | a0003c0012t0061 | a0003c0012t0061g0131 | 1 | 370 | 0.0027 | 896 | c.*17 others(907): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1321 | chr19 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161576 | C | CCAGACCC others(889): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 388 | 0.0026 | 896 | c.*26 others(907): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2352 | chr11 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAC others(889): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0325 | 1 | 348 | 0.0029 | 896 | c.519 others(911): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909034 | A | ATTTGTGG others(889): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0328a0001c0001t0002g0307others(1): Show | 4 | 338 | 0.0118 | 896 | c.*36 others(911): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(889): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | 167 | 0.0120 | 896 | c.*53 others(907): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064447 | G | GACACTGT others(890): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0133a0001c0001t0034g0003 | 2 | 337 | 0.0059 | 897 | c.118 others(916): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1118466 | C | CCTGAGCC others(890): Show |
intron_variant | MODIFIER | HG02015.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0078 | a0001c0001t0030g0107a0001c0001t0078g0289 | 2 | 337 | 0.0059 | 897 | c.246 others(914): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872915 | T | TGAGCGGT others(890): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18969.hp1 |
a0001a0002 | a0001c0031a0002c0003 | a0001c0031t0007a0002c0003t0007 | a0001c0031t0007g0160a0002c0003t0007g0186 | 2 | 254 | 0.0079 | 897 | c.305 others(914): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(890): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 391 | 0.0026 | 897 | c.*36 others(908): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(890): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 897 | c.*36 others(908): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(890): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0105a0001c0001t0001g0120 | 3 | 326 | 0.0092 | 897 | c.327 others(914): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404950 | C | CTGAGGGG others(890): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 322 | 0.0031 | 897 | c.*21 others(908): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 494 | chr19 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585473 | A | AGGGGAGG others(890): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0108 | 1 | 354 | 0.0028 | 897 | c.-22 others(914): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(890): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0178 | 1 | 338 | 0.0030 | 897 | c.300 others(914): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(890): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0201 | 1 | 338 | 0.0030 | 897 | c.300 others(914): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(890): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0225 | 1 | 270 | 0.0037 | 897 | c.162 others(918): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(890): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0004 | a0002c0001t0001g0018a0003c0005t0004g0037 | 2 | 40 | 0.0500 | 897 | c.106 others(916): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1337418 | G | GGATGATG others(890): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0006a0001c0002t0010a0001c0003t0006others(16): Show | a0001c0002t0006g0011a0001c0002t0010g0008a0001c0003t0006g0033others(16): Show | 19 | 40 | 0.4750 | 897 | c.106 others(916): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(890): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0101 | a0101c0211 | a0101c0211t0001 | a0101c0211t0001g0135 | 1 | 252 | 0.0040 | 897 | c.118 others(916): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(890): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0204 | 2 | 392 | 0.0051 | 897 | c.966 others(914): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EED_chr11_86239753_86283810 | 86272061 | T | TTTTTTTT others(890): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 392 | 0.0026 | 897 | c.966 others(914): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716559 | T | TTGTGGTG others(890): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 170 | 0.0059 | 897 | c.86- others(908): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329698 | T | TACACGGG others(890): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0030 | a0030c0032 | a0030c0032t0001 | a0030c0032t0001g0054 | 1 | 82 | 0.0122 | 897 | c.199 others(916): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242198 | C | CCACACAC others(890): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0097 | 1 | 183 | 0.0055 | 897 | c.107 others(916): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(890): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 350 | 0.0029 | 897 | c.94- others(910): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(890): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 314 | 0.0032 | 897 | c.-25 others(914): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236345145 | T | TGTGCTTC others(890): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0046a0001c0001t0002g0147a0001c0001t0004g0057others(17): Show | 20 | 208 | 0.0962 | 897 | c.187 others(914): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236345145 | T | TGTGCTTC others(890): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0002a0001c0021t0008 | a0001c0001t0002g0191a0001c0021t0008g0019 | 2 | 208 | 0.0096 | 897 | c.187 others(914): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(890): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 260 | 0.0039 | 897 | c.125 others(914): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(890): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0127 | 1 | 318 | 0.0031 | 897 | c.-49 others(908): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(890): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 118 | 0.0085 | 897 | c.123 others(916): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(890): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0250 | 1 | 356 | 0.0028 | 897 | c.91+ others(910): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(890): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18992.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0058 | 3 | 426 | 0.0070 | 897 | c.273 others(912): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585635 | T | TTGAGGTA others(890): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0013 | a0013c0021 | a0013c0021t0008 | a0013c0021t0008g0251 | 1 | 279 | 0.0036 | 897 | c.215 others(914): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(890): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 279 | 0.0036 | 897 | c.215 others(914): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(890): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 NA19002.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122a0002c0002t0001g0168a0002c0002t0001g0170others(1): Show | 4 | 279 | 0.0143 | 897 | c.215 others(914): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133778 | T | TCTCCACC others(890): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 227 | 0.0044 | 897 | c.*23 others(908): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2066 | chr19 | TogoVar |