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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML1_chr14_99788413_99947060 | 99927919 | TGGTGGTG others(80): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18953.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0114 a0002c0001t0002g0151 |
2 | 286 | 0.0070 | -87 | c.190 others(106): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667376 | TGATGGTG others(80): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0108 | 1 | 391 | 0.0026 | -87 | c.*68 others(98): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2941 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667412 | TGATGGTG others(80): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03579.hp1 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0004 a0001c0006t0004g0012 |
2 | 390 | 0.0051 | -87 | c.*68 others(98): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2905 | chr18 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1198876 | TGACAAAC others(80): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0020a0002c0002t0002a0002c0002t0016others(4): Show | a0001c0001t0020g0141 a0002c0002t0002g0037 a0002c0002t0016g0098 others(6): Show |
9 | 156 | 0.0577 | -87 | c.235 others(106): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914569 | GTCTCCGT others(80): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 a0001c0002t0002g0174 |
2 | 310 | 0.0065 | -87 | c.-13 others(104): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914574 | CGTCTCTC others(80): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120 | 1 | 257 | 0.0039 | -87 | c.-13 others(104): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747169 | TATATATA others(80): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0290 | 1 | 376 | 0.0027 | -87 | c.108 others(104): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584990 | GGAAGGAA others(80): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00673.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(8): Show | a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0089 others(13): Show |
16 | 276 | 0.0580 | -87 | c.-15 others(104): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584994 | GGAAGGAA others(80): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0133 | 1 | 265 | 0.0038 | -87 | c.-15 others(104): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585102 | AGGAAGGA others(80): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01255.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0005g0096 others(6): Show |
9 | 214 | 0.0421 | -87 | c.-15 others(104): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137392926 | ATCTGTTC others(80): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0025 | a0025c0014 | a0025c0014t0001 | a0025c0014t0001g0075 | 1 | 80 | 0.0125 | -87 | c.55+ others(102): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 2/21 | chr9 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169554497 | CTACTAAA others(80): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01069.hp2 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0102 a0002c0003t0001g0130 a0002c0003t0001g0131 others(15): Show |
18 | 390 | 0.0462 | -87 | c.121 others(104): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132539949 | GTGCCCAC others(80): Show |
G | intron_variant | MODIFIER | HG00280.hp1 NA18971.hp1 |
a0002a0010 | a0002c0081a0010c0010 | a0002c0081t0001a0010c0010t0029 | a0002c0081t0001g0341 a0010c0010t0029g0327 |
2 | 345 | 0.0058 | -87 | c.616 others(104): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FGFRL1_chr4_1006626_1031898 | 1016102 | GTGGTGCC others(80): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 412 | 0.0024 | -87 | c.79+ others(102): Show |
FGFRL1 | ENSG00000127418.15 | transcript | ENST00000510644.6 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
FMO5_chr1_147181261_147230339 | 147226045 | ATTACTTT others(80): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 406 | 0.0025 | -87 | c.-88 others(96): Show |
FMO5 | ENSG00000131781.13 | transcript | ENST00000254090.9 | protein_coding | 707 | chr1 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82598065 | ACATCCGT others(80): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0046a0003c0004t0020a0003c0004t0049others(1): Show | a0001c0001t0046g0249 a0003c0004t0020g0184 a0003c0004t0020g0187 others(3): Show |
6 | 306 | 0.0196 | -87 | c.178 others(106): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360971 | CTCCACCA others(80): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0005 | 1 | 228 | 0.0044 | -87 | c.544 others(106): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361121 | TACCACCT others(80): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG04228.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0067 | a0001c0001t0001g0049 a0001c0001t0002g0061 a0001c0001t0067g0034 |
3 | 130 | 0.0231 | -87 | c.544 others(106): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361632 | CTCCACCA others(80): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0056 | 1 | 228 | 0.0044 | -87 | c.544 others(106): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361663 | AGCACCAC others(80): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 218 | 0.0046 | -87 | c.544 others(106): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127743 | TCTTCTTC others(80): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01928.hp2 HG01978.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0002a0002c0002t0002a0006c0008t0002 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0050 others(19): Show |
22 | 348 | 0.0632 | -87 | c.152 others(106): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807572 | TCCCCCCT others(80): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0036 | 1 | 285 | 0.0035 | -87 | c.*34 others(98): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3286 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807853 | TCCCCCCT others(80): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 292 | 0.0034 | -87 | c.*36 others(98): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3567 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252872 | CCACCACC others(80): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0162 | 1 | 359 | 0.0028 | -87 | c.666 others(104): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252893 | CCATCACC others(80): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0212 | 1 | 360 | 0.0028 | -87 | c.666 others(104): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605523 | TTATATAA others(80): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0019a0002c0004t0010 | a0001c0007t0019g0250 a0002c0004t0010g0013 a0002c0004t0010g0249 others(1): Show |
4 | 424 | 0.0094 | -87 | c.-42 others(106): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605638 | ATATATAA others(80): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 297 | 0.0034 | -87 | c.-42 others(106): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605741 | AATGTGTA others(80): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA19030.hp2 |
a0001a0002 | a0001c0006a0002c0011 | a0001c0006t0001a0002c0011t0005 | a0001c0006t0001g0265 a0002c0011t0005g0267 |
2 | 317 | 0.0063 | -87 | c.-42 others(106): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605944 | TAATATTA others(80): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01884.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0007a0002c0003t0003 | a0001c0001t0001g0155 a0002c0002t0007g0039 a0002c0003t0003g0035 others(3): Show |
6 | 423 | 0.0142 | -87 | c.-42 others(106): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GJB7_chr6_87277980_87334278 | 87323031 | TGCTTTTT others(80): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp2 HG02055.hp1 HG02572.hp1 others(13): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0006a0001c0001t0012a0003c0003t0008others(2): Show | a0001c0001t0006g0004 a0001c0001t0006g0054 a0001c0001t0006g0056 others(5): Show |
16 | 380 | 0.0421 | -87 | c.-20 others(99): Show |
GJB7 | ENSG00000164411.12 | transcript | ENST00000525899.6 | protein_coding | 2/3 | 38120 | chr6 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3154563 | AGGTGGAT others(80): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 a0001c0002t0001g0372 |
2 | 448 | 0.0045 | -87 | c.615 others(104): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132787624 | CCCCTCCC others(80): Show |
C | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 306 | 0.0033 | -87 | c.281 others(104): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132787685 | CGGGACCC others(80): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(70): Show |
a0001a0002a0018others(3): Show | a0001c0001a0001c0011a0001c0020others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(20): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(70): Show |
73 | 306 | 0.2386 | -87 | c.281 others(104): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA6C_chr15_75253334_75278455 | 75272373 | ATTTAGAC others(80): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18957.hp2 NA18995.hp1 NA19054.hp1 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0001 | 3 | 198 | 0.0152 | -87 | c.*21 others(98): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 18/18 | 2179 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GPALPP1_chr13_44984538_45035305 | 45024175 | GTGTGTGT others(80): Show |
G | intron_variant | MODIFIER | HG02135.hp1 HG02155.hp2 NA18950.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0019 a0001c0001t0003g0201 a0001c0001t0003g0217 others(8): Show |
11 | 346 | 0.0318 | -87 | c.805 others(104): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453321 | GCCCCGCT others(80): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02615.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0024 | a0001c0002t0006a0001c0005t0005a0001c0024t0002 | a0001c0002t0006g0018 a0001c0005t0005g0071 a0001c0005t0005g0335 others(1): Show |
4 | 255 | 0.0157 | -87 | c.167 others(104): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91986860 | TAAGCCAG others(80): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 42 | 0.0238 | -87 | c.140 others(108): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPSM1_chr9_136322539_136364601 | 136352168 | AATGCTGC others(80): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(248): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(210): Show |
251 | 347 | 0.7233 | -87 | c.145 others(106): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 604650 | CTATGAGG others(80): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0385 | 1 | 404 | 0.0025 | -87 | c.105 others(104): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962225 | TATATATA others(80): Show |
T | intron_variant | MODIFIER | HG02145.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 a0001c0001t0003g0171 |
2 | 265 | 0.0075 | -87 | c.202 others(104): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 999883 | GCCCATCT others(80): Show |
G | intron_variant | MODIFIER | HG00597.hp2 NA19083.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0333 a0002c0003t0001g0303 |
2 | 415 | 0.0048 | -87 | c.300 others(102): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 999928 | GGACGCCT others(80): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp2 others(2): Show |
a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0031 a0004c0010t0001g0258 a0004c0010t0001g0261 others(1): Show |
5 | 425 | 0.0118 | -87 | c.300 others(102): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 999977 | TGCAAGTG others(80): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18946.hp1 NA18955.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0164 |
5 | 426 | 0.0117 | -87 | c.300 others(102): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 1000007 | TCCCTTGA others(80): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0237 | 1 | 426 | 0.0023 | -87 | c.300 others(102): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761887 | CCTTCTCC others(80): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 137 | 0.0073 | -87 | c.82+ others(106): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1360247 | TCCCTTTC others(80): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 113 | 0.0088 | -87 | c.759 others(104): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132751727 | CAGGCAGG others(80): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0006a0001c0007a0001c0009 | a0001c0006t0001a0001c0006t0008a0001c0007t0008others(1): Show | a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 others(1): Show |
4 | 202 | 0.0198 | -87 | c.903 others(104): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100299501 | CCAGCCTT others(80): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02080.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 a0001c0002t0002g0152 |
2 | 180 | 0.0111 | -87 | c.309 others(105): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450309 | GAGAGACA others(80): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0004g0019 a0001c0001t0004g0082 a0001c0001t0004g0092 others(22): Show |
36 | 378 | 0.0952 | -87 | c.*29 others(98): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2675 | chr19 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52911606 | TATATATA others(80): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0016a0001c0001t0028a0001c0001t0061others(3): Show | a0001c0001t0016g0017 a0001c0001t0028g0277 a0001c0001t0061g0178 others(3): Show |
6 | 315 | 0.0190 | -87 | c.185 others(106): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |