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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3761): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0026a0001c0001t0027a0001c0002t0004others(2): Show | a0001c0001t0026g0002a0001c0001t0027g0001a0001c0002t0004g0084others(2): Show | 5 | 196 | 0.0255 | 3768 | c.986 others(3787): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3762): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0192 | 1 | 236 | 0.0042 | 3769 | c.294 others(3786): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251133 | T | TCCCCCAC others(3762): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0108 | 1 | 116 | 0.0086 | 3769 | c.207 others(3788): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323694 | G | GTGTGTGT others(3762): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 155 | 0.0065 | 3769 | c.-49 others(3780): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4899 | chrX | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3762): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0018a0001c0001t0144a0001c0008t0088 | a0001c0001t0018g0147a0001c0001t0144g0189a0001c0008t0088g0175 | 3 | 196 | 0.0153 | 3769 | c.986 others(3788): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3762): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 62 | 0.0161 | 3769 | c.-21 others(3790): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3763): Show |
intron_variant | MODIFIER | HG02258.hp1 HG04228.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0130a0001c0001t0001g0150a0001c0004t0001g0055 | 3 | 175 | 0.0171 | 3770 | c.164 others(3789): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3763): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 236 | 0.0042 | 3770 | c.294 others(3787): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3763): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 423 | 0.0024 | 3770 | c.*19 others(3781): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3763): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0102 | a0001c0001t0019g0117a0001c0001t0102g0116 | 2 | 196 | 0.0102 | 3770 | c.986 others(3789): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 78669892 | C | CAATAAAT others(3763): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 40 | 0.0250 | 3770 | c.419 others(3789): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3763): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0009 | a0009c0064 | a0009c0064t0001 | a0009c0064t0001g0105 | 1 | 282 | 0.0036 | 3770 | c.299 others(3785): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02257.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0058a0001c0001t0004g0003others(4): Show | 7 | 62 | 0.1129 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0023 | 1 | 62 | 0.0161 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 62 | 0.0161 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3763): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 62 | 0.0161 | 3770 | c.-21 others(3791): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3764): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0003 | 1 | 236 | 0.0042 | 3771 | c.294 others(3788): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3764): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 40 | 0.0250 | 3771 | c.*14 others(3782): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3764): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0227a0001c0001t0001g0233 | 3 | 303 | 0.0099 | 3771 | c.*34 others(3782): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117749120 | C | CAAAAAAA others(3764): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0131 | 1 | 196 | 0.0051 | 3771 | c.986 others(3790): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1243636 | T | TTCCAGCC others(3764): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp2 | a0073 | a0073c0055 | a0073c0055t0001 | a0073c0055t0001g0174 | 1 | 350 | 0.0029 | 3771 | c.718 others(3780): Show |
p.Gly others(3786): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 7240/17911 | 7182/17289 | 2394/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
SYT1_chr12_78859774_79457008 | 78944242 | G | GCCAATCC others(3764): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 62 | 0.0161 | 3771 | c.-21 others(3792): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
WDR7_chr18_56646359_57034792 | 57024555 | G | GCTATGAT others(3764): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0119 | 1 | 144 | 0.0069 | 3771 | c.427 others(3790): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3765): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 298 | 0.0034 | 3772 | c.126 others(3789): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(3765): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 416 | 0.0024 | 3772 | c.522 others(3787): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(3765): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0120 | 1 | 183 | 0.0055 | 3772 | c.107 others(3791): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3766): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 423 | 0.0024 | 3773 | c.*19 others(3784): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239353 | C | CGTGGCAC others(3767): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 72 | 0.0139 | 3774 | c.694 others(3791): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262169 | G | GTGACCCT others(3767): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0007 | 1 | 292 | 0.0034 | 3774 | c.571 others(3791): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGG others(3767): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128 | 1 | 308 | 0.0033 | 3774 | c.157 others(3791): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3767): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 80 | 0.0125 | 3774 | c.125 others(3791): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3767): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0129 | 1 | 214 | 0.0047 | 3774 | c.206 others(3793): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105234968 | T | CGTGGCAC others(3768): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 72 | 0.0139 | 3775 | c.695 others(3792): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721357 | T | TTCTCACA others(3768): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0057a0001c0003t0001g0058a0001c0003t0001g0060others(1): Show | 4 | 170 | 0.0235 | 3775 | c.642 others(3792): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721357 | T | TTCTCACA others(3768): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 170 | 0.0059 | 3775 | c.642 others(3792): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | chr9 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 412610 | G | GGTGCCCA others(3770): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 242 | 0.0041 | 3777 | c.-15 others(3796): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863975 | A | ATTCCCAA others(3771): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0167 | 1 | 318 | 0.0031 | 3778 | c.225 others(3795): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3772): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 NA18962.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0052a0002c0002t0005g0171 | 2 | 303 | 0.0066 | 3779 | c.*34 others(3790): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3772): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0007 | a0001c0007t0025 | a0001c0007t0025g0244 | 1 | 303 | 0.0033 | 3779 | c.*34 others(3790): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3772): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 303 | 0.0033 | 3779 | c.*34 others(3790): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3772): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 303 | 0.0033 | 3779 | c.*34 others(3790): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502694 | G | GGGGGGAC others(3772): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0026 | a0026c0045 | a0026c0045t0001 | a0026c0045t0001g0069 | 1 | 188 | 0.0053 | 3779 | c.147 others(3796): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PON3_chr7_95354872_95401375 | 95384197 | A | ATTAATTC others(3772): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 372 | 0.0027 | 3779 | c.201 others(3796): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3773): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0133a0002c0002t0001g0149a0002c0002t0001g0159others(14): Show | 17 | 303 | 0.0561 | 3780 | c.*34 others(3791): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3773): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 1 | 303 | 0.0033 | 3780 | c.*34 others(3791): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3773): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 303 | 0.0033 | 3780 | c.*34 others(3791): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3773): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | 303 | 0.0066 | 3780 | c.*34 others(3791): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3773): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 323 | 0.0031 | 3780 | c.-21 others(3791): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
FAM171A1_chr10_15206643_15376289 | 15209429 | A | AGGATTAC others(3774): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 NA18968.hp2 NA18973.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0152a0002c0002t0001g0236a0002c0002t0003g0296 | 3 | 303 | 0.0099 | 3781 | c.*34 others(3792): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 2213 | chr10 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3774): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0020 | a0020c0135 | a0020c0135t0003 | a0020c0135t0003g0017 | 1 | 282 | 0.0036 | 3781 | c.299 others(3796): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar |