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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLT3_chr13_27998274_28105576 | 27998863 | T | TATATTTA others(179): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02080.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0002a0003c0003t0002a0004c0005t0002 | a0001c0001t0002g0057 a0001c0001t0002g0058 a0003c0003t0002g0253 others(1): Show |
4 | 292 | 0.0137 | 186 | c.*51 others(197): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4410 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998863 | T | TATATTTA others(179): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0235 | 1 | 292 | 0.0034 | 186 | c.*51 others(197): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4410 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 28065645 | G | GTAATAAT others(179): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01192.hp2 others(2): Show |
a0001a0004a0008 | a0001c0001a0004c0006a0008c0016 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0002g0090 a0004c0006t0001g0209 others(2): Show |
5 | 292 | 0.0171 | 186 | c.166 others(203): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360937 | C | CCACCTCC others(179): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 230 | 0.0044 | 186 | c.544 others(205): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152275216 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 204 | 0.0049 | 186 | c.330 others(203): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 4/9 | chrX | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716783 | G | GACAGCCC others(179): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 204 | 0.0049 | 186 | c.240 others(205): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716783 | G | GACAGCCC others(179): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 204 | 0.0049 | 186 | c.240 others(205): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926877 | C | CCTCCCCG others(179): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 390 | 0.0026 | 186 | c.145 others(203): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926962 | C | CGCTCACC others(179): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0369 | 1 | 390 | 0.0026 | 186 | c.145 others(203): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927060 | C | CCGCACCC others(179): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19082.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0346 a0003c0006t0001g0371 |
2 | 390 | 0.0051 | 186 | c.145 others(203): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927122 | G | GTCCGCAC others(179): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0250 | 1 | 390 | 0.0026 | 186 | c.145 others(203): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777607 | C | CCACAACC others(179): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0006 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3606 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(179): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(179): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0008 | a0008c0013 | a0008c0013t0005 | a0008c0013t0005g0001 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(179): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777656 | T | TCATCACA others(179): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3557 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777667 | A | ATTCACAA others(179): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 444 | 0.0023 | 186 | c.-41 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3546 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(179): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0006 | 1 | 444 | 0.0023 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(179): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0002 a0001c0001t0017g0015 |
2 | 444 | 0.0045 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(179): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 | 1 | 444 | 0.0023 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777729 | A | ATTCACAA others(179): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3484 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCACC others(179): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 444 | 0.0023 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCGCC others(179): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777779 | G | GCCATCAC others(179): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 2 | 444 | 0.0045 | 186 | c.-40 others(197): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3434 | chr1 | TogoVar | |||||||
GLIPR1L2_chr12_75386089_75437688 | 75433540 | T | TTATATAT others(179): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 360 | 0.0028 | 186 | c.*23 others(197): Show |
GLIPR1L2 | ENSG00000180481.11 | transcript | ENST00000550916.6 | protein_coding | 853 | chr12 | TogoVar | |||||||
GLT6D1_chr9_135618648_135644540 | 135620055 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 a0001c0001t0002g0207 |
2 | 436 | 0.0046 | 186 | c.*40 others(197): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3592 | chr9 | TogoVar | |||||||
GLT6D1_chr9_135618648_135644540 | 135620055 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0168 others(5): Show |
9 | 436 | 0.0206 | 186 | c.*40 others(197): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3592 | chr9 | TogoVar | |||||||
GLT6D1_chr9_135618648_135644540 | 135620109 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 436 | 0.0023 | 186 | c.*39 others(197): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3538 | chr9 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1898047 | T | TCCCTTGC others(179): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03834.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0065 a0001c0002t0001g0129 a0001c0002t0002g0077 |
3 | 166 | 0.0181 | 186 | c.771 others(205): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1898101 | T | TCCTGGCC others(179): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 166 | 0.0060 | 186 | c.771 others(205): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GOLGA6L22_chr15_22453903_22474226 | 22466606 | G | GGAGCAGG others(179): Show |
conservative_inframe_insertion | MODERATE | NA18978.hp1 NA19064.hp2 |
a0019 | a0019c0018 | a0019c0018t0001 | a0019c0018t0001g0001 | 2 | 226 | 0.0089 | 186 | c.235 others(195): Show |
p.Glu others(199): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2447/4401 | 2356/2565 | 786/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350713 | C | CTCCTGCT others(179): Show |
disruptive_inframe_insertion | MODERATE | NA18950.hp1 NA19070.hp1 NA19087.hp2 |
a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0019 a0012c0013t0002g0075 |
3 | 200 | 0.0150 | 186 | c.185 others(195): Show |
p.Glu others(199): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2097/4304 | 2036/2499 | 679/832 | chr15 | TogoVar | |||
GPC6_chr13_93221807_94413020 | 93796910 | G | GTTTCATC others(179): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01496.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0003g0065 others(22): Show |
25 | 76 | 0.3290 | 186 | c.320 others(205): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66683361 | T | TATATGTT others(179): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0180 |
2 | 234 | 0.0086 | 186 | c.143 others(203): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66683399 | T | TATATATA others(179): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 234 | 0.0043 | 186 | c.143 others(203): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59233720 | A | ACATGATA others(179): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03486.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0147 |
3 | 408 | 0.0074 | 186 | c.*32 others(197): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2950 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59233720 | A | ACATGATA others(179): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0148 |
3 | 408 | 0.0074 | 186 | c.*32 others(197): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2950 | chr18 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(179): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 290 | 0.0035 | 186 | c.427 others(203): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(179): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 290 | 0.0035 | 186 | c.427 others(203): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540459 | C | CCCCCCAC others(179): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0194 |
3 | 398 | 0.0075 | 186 | c.-36 others(197): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3593 | chr19 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059855 | C | CATAATAT others(179): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 360 | 0.0028 | 186 | c.226 others(205): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102441933 | T | TCTTCTTC others(179): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 360 | 0.0028 | 186 | c.221 others(205): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
IL17RA_chr22_17080000_17120693 | 17094667 | C | CTATATAT others(179): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0021 | 1 | 416 | 0.0024 | 186 | c.139 others(203): Show |
IL17RA | ENSG00000177663.15 | transcript | ENST00000319363.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361153 | C | CTTCCCCT others(179): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0096 | 1 | 115 | 0.0087 | 186 | c.759 others(203): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(179): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 252 | 0.0040 | 186 | c.10- others(203): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10215224 | T | TAAAAATA others(179): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0112 | 1 | 292 | 0.0034 | 186 | c.788 others(203): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43790799 | A | ATGGTATG others(179): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0071 |
2 | 354 | 0.0057 | 186 | c.*40 others(197): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1259 | chr12 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150372601 | G | GTGTGACC others(179): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0040a0002c0002t0094 | a0002c0002t0040g0096 a0002c0002t0094g0097 |
2 | 414 | 0.0048 | 186 | c.178 others(203): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150372601 | G | GTGTGTCC others(179): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01109.hp2 others(14): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0008a0001c0001t0009a0001c0001t0036others(4): Show | a0001c0001t0008g0024 a0001c0001t0008g0109 a0001c0001t0009g0002 others(9): Show |
17 | 414 | 0.0411 | 186 | c.178 others(203): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150372601 | G | GTGTGTCC others(179): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0040a0002c0002t0093 | a0002c0002t0040g0094 a0002c0002t0093g0095 |
2 | 414 | 0.0048 | 186 | c.178 others(203): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |