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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(644): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 216 | 0.0046 | 651 | c.923 others(670): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400616 | T | TCCACCAC others(644): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0004 | a0004c0043 | a0004c0043t0001 | a0004c0043t0001g0245 | 1 | 256 | 0.0039 | 651 | c.323 others(670): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005383 | T | TAATTATA others(644): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0004 | 1 | 220 | 0.0046 | 651 | c.551 others(670): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(644): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0064 | 1 | 374 | 0.0027 | 651 | c.*14 others(662): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(644): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
4 | 294 | 0.0136 | 651 | c.-38 others(662): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(644): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0042 |
2 | 294 | 0.0068 | 651 | c.-38 others(662): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(644): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02300.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 5 | 254 | 0.0197 | 651 | c.*35 others(662): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(644): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 651 | c.*35 others(662): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(644): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 292 | 0.0034 | 651 | c.*49 others(662): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(644): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 HG02080.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0058 a0003c0003t0002g0253 |
2 | 292 | 0.0069 | 651 | c.*49 others(662): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(644): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0232 | 1 | 292 | 0.0034 | 651 | c.*49 others(662): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(644): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 292 | 0.0034 | 651 | c.*49 others(662): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(644): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0013 | a0013c0028 | a0013c0028t0002 | a0013c0028t0002g0069 | 1 | 292 | 0.0034 | 651 | c.*49 others(662): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
FRYL_chr4_48492357_48785279 | 48659838 | G | GGGAGAAG others(644): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0232 | 1 | 282 | 0.0036 | 651 | c.-81 others(670): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(644): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0171 | 1 | 204 | 0.0049 | 651 | c.240 others(670): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(644): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 204 | 0.0049 | 651 | c.240 others(670): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(644): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 204 | 0.0049 | 651 | c.240 others(670): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(644): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 204 | 0.0049 | 651 | c.240 others(670): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 9848749 | T | TTTTAAAT others(644): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 168 | 0.0060 | 651 | c.132 others(670): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323138 | T | TATATATG others(644): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 323 | 0.0031 | 651 | c.-19 others(662): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1831 | chr21 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79830756 | G | GACAGAGC others(644): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0136 |
2 | 312 | 0.0064 | 651 | c.-11 others(672): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(644): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0030 | a0001c0030t0079 | a0001c0030t0079g0188 | 1 | 386 | 0.0026 | 651 | c.-46 others(662): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(644): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 242 | 0.0041 | 651 | c.174 others(670): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(644): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02523.hp2 NA18954.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0059 | a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 others(2): Show |
5 | 368 | 0.0136 | 651 | c.353 others(668): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471506 | A | ATATATAA others(644): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 260 | 0.0039 | 651 | c.125 others(668): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(644): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0070 | 1 | 294 | 0.0034 | 651 | c.153 others(670): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859736 | C | CGGGTGTG others(644): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0005 | a0005c0024 | a0005c0024t0007 | a0005c0024t0007g0294 | 1 | 294 | 0.0034 | 651 | c.153 others(670): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(644): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 428 | 0.0023 | 651 | c.-45 others(662): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(644): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 428 | 0.0023 | 651 | c.-45 others(662): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(644): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 428 | 0.0023 | 651 | c.-45 others(662): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(644): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 428 | 0.0023 | 651 | c.-45 others(662): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(644): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 428 | 0.0023 | 651 | c.-45 others(662): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(644): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 288 | 0.0035 | 651 | c.-32 others(662): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(644): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02922.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 5 | 288 | 0.0174 | 651 | c.-32 others(662): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCCTAC others(644): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 394 | 0.0025 | 651 | c.-8+ others(664): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(644): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0073 | 1 | 394 | 0.0025 | 651 | c.-8+ others(664): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543879 | G | GTGGTGGT others(644): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320 | 1 | 342 | 0.0029 | 651 | c.152 others(668): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79481767 | A | AATTCCAG others(644): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0223 | 1 | 322 | 0.0031 | 651 | c.209 others(670): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(644): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 66 | 0.0152 | 651 | c.474 others(670): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(644): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 196 | 0.0051 | 651 | c.321 others(670): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(644): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01981.hp2 HG02135.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0046 a0001c0001t0005g0155 a0001c0002t0003g0161 |
3 | 196 | 0.0153 | 651 | c.321 others(670): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(644): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 196 | 0.0051 | 651 | c.321 others(670): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(644): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 439 | 0.0023 | 651 | c.-16 others(662): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(644): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 a0001c0001t0002g0161 |
2 | 266 | 0.0075 | 651 | c.-34 others(666): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977728 | A | ACCAACCC others(644): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG02257.hp1 others(8): Show |
a0002a0005a0013 | a0002c0005a0005c0006a0013c0044 | a0002c0005t0004a0002c0005t0005a0005c0006t0004others(2): Show | a0002c0005t0004g0225 a0002c0005t0005g0044 a0002c0005t0005g0224 others(7): Show |
11 | 408 | 0.0270 | 651 | c.215 others(670): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977728 | A | ACCAACCC others(644): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03209.hp2 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0231 a0002c0005t0005g0232 |
2 | 408 | 0.0049 | 651 | c.215 others(670): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCCTAC others(644): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0007 | 1 | 376 | 0.0027 | 651 | c.*15 others(662): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(644): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 376 | 0.0027 | 651 | c.*15 others(662): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 43029732 | A | AGAAACAG others(644): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0286 a0001c0001t0032g0291 |
2 | 362 | 0.0055 | 651 | c.110 others(668): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977728 | A | ACCAACCC others(644): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0001c0011others(3): Show | a0001c0001t0020a0001c0009t0010a0001c0009t0027others(7): Show | a0001c0001t0020g0019 a0001c0009t0010g0015 a0001c0009t0027g0095 others(9): Show |
12 | 422 | 0.0284 | 651 | c.*31 others(662): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1864 | chr1 | TogoVar |