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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBX_chr3_107517962_107816339 | 107719677 | T | TGGGTTGC others(6085): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 220 | 0.0045 | 6092 | c.405 others(6109): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA8_chr10_15508954_15724922 | 15602929 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0138 | 1 | 216 | 0.0046 | 6092 | c.211 others(6111): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 20/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15602929 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0128 | 1 | 216 | 0.0046 | 6092 | c.211 others(6111): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 20/29 | chr10 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 318 | 0.0031 | 6092 | c.283 others(6109): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16882901 | A | ATCAAATC others(6085): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0081 | a0001c0003t0081g0229 | 1 | 240 | 0.0042 | 6092 | c.22- others(6107): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89159080 | T | TGAAAACC others(6085): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0171 | 1 | 185 | 0.0054 | 6092 | c.474 others(6111): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6085): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 a0001c0001t0006g0130 a0001c0001t0006g0230 others(4): Show |
8 | 299 | 0.0268 | 6092 | c.300 others(6111): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6085): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0047 | 1 | 100 | 0.0100 | 6092 | c.147 others(6113): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
TENM1_chrX_124370903_125209312 | 124787395 | G | GCTATACA others(6085): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0071 | 1 | 133 | 0.0075 | 6092 | c.536 others(6111): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 6/34 | chrX | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79305342 | T | TAAGAATA others(6085): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0009 | a0005c0009t0031 | a0005c0009t0031g0021 | 1 | 92 | 0.0109 | 6092 | c.-32 others(6111): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 1/33 | chr11 | TogoVar | |||||||
TEX30_chr13_102760888_102778786 | 102764141 | A | ACAAATCT others(6085): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 452 | 0.0022 | 6092 | c.*22 others(6103): Show |
TEX30 | ENSG00000151287.17 | transcript | ENST00000376032.9 | protein_coding | 1746 | chr13 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18560891 | T | TCTCTTTT others(6086): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0206 | 1 | 205 | 0.0049 | 6093 | c.238 others(6112): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 108 | 0.0093 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0150 |
2 | 109 | 0.0183 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6086): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 108 | 0.0093 | 6093 | c.829 others(6112): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HTR6_chr1_19659875_19685966 | 19671809 | T | TGGAAATG others(6086): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 398 | 0.0025 | 6093 | c.714 others(6110): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NEDD4_chr15_55821922_55998612 | 55958936 | T | TAAAACTT others(6086): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 252 | 0.0040 | 6093 | c.120 others(6110): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 2/28 | chr15 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79626233 | T | TTAGGGGG others(6086): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 24 | 0.0417 | 6093 | c.344 others(6114): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SHC3_chr9_89000771_89183818 | 89159080 | T | TGAAAACC others(6086): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0170 | 1 | 185 | 0.0054 | 6093 | c.474 others(6112): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116994892 | G | GCAGCAAG others(6086): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 362 | 0.0028 | 6093 | c.274 others(6112): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6086): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18950.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0017 a0001c0002t0003g0023 |
2 | 101 | 0.0198 | 6093 | c.147 others(6114): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6086): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0049 a0001c0002t0003g0046 |
2 | 101 | 0.0198 | 6093 | c.147 others(6114): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6086): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0021 | 1 | 100 | 0.0100 | 6093 | c.147 others(6114): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143402916 | T | TTTTTGTT others(6086): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0043 | 1 | 100 | 0.0100 | 6093 | c.147 others(6114): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90868723 | A | AGATAAGC others(6086): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0279 | 1 | 374 | 0.0027 | 6093 | c.915 others(6110): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TENM1_chrX_124370903_125209312 | 124787395 | G | GCTATACA others(6086): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0024 | a0001c0024t0028 | a0001c0024t0028g0138 | 1 | 133 | 0.0075 | 6093 | c.536 others(6112): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 6/34 | chrX | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6087): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 108 | 0.0093 | 6094 | c.829 others(6113): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6087): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18956.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0188 others(2): Show |
5 | 112 | 0.0446 | 6094 | c.829 others(6113): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6087): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 108 | 0.0093 | 6094 | c.829 others(6113): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6087): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 108 | 0.0093 | 6094 | c.829 others(6113): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6087): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 108 | 0.0093 | 6094 | c.829 others(6113): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154263429 | T | TAGGGAGT others(6087): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 259 | 0.0039 | 6094 | c.36+ others(6109): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6087): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 318 | 0.0031 | 6094 | c.283 others(6111): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
NEDD4_chr15_55821922_55998612 | 55958936 | T | TAAAACTT others(6087): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0268 |
2 | 253 | 0.0079 | 6094 | c.120 others(6111): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 2/28 | chr15 | TogoVar | |||||||
NEDD4_chr15_55821922_55998612 | 55958936 | T | TAAAACTT others(6087): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0264 | 1 | 252 | 0.0040 | 6094 | c.120 others(6111): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 2/28 | chr15 | TogoVar | |||||||
NEDD4_chr15_55821922_55998612 | 55958936 | T | TAAAACTT others(6087): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 252 | 0.0040 | 6094 | c.120 others(6111): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 2/28 | chr15 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15116527 | A | ATGCAGGA others(6087): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0112 | 1 | 298 | 0.0034 | 6094 | c.118 others(6111): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
SLC22A15_chr1_115971513_116075054 | 116005396 | T | TCTCCATA others(6087): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0240 | 1 | 292 | 0.0034 | 6094 | c.300 others(6113): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 166072333 | A | ATAATAAT others(6087): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0091 | 1 | 248 | 0.0040 | 6094 | c.218 others(6113): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CCDC178_chr18_32932406_33445721 | 33247304 | T | TTAAAATG others(6088): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0012 | a0012c0004 | a0012c0004t0001 | a0012c0004t0001g0004 | 1 | 56 | 0.0179 | 6095 | c.141 others(6114): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 14/22 | chr18 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 108 | 0.0093 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 108 | 0.0093 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 108 | 0.0093 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0198 |
2 | 109 | 0.0183 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0176 a0001c0001t0001g0185 others(9): Show |
12 | 119 | 0.1008 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0175 |
2 | 109 | 0.0183 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02040.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0105 a0001c0001t0001g0203 a0001c0001t0001g0206 others(1): Show |
4 | 111 | 0.0360 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18954.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0199 |
3 | 110 | 0.0273 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG03453.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0164 |
2 | 109 | 0.0183 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6088): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 108 | 0.0093 | 6095 | c.829 others(6114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |