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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3338): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0005 | a0005c0044 | a0005c0044t0021 | a0005c0044t0021g0200 | 1 | 216 | 0.0046 | 3345 | c.-51 others(3364): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3338): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 356 | 0.0028 | 3345 | c.114 others(3362): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3339): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01106.hp2 others(21): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001a0002c0003t0002g0013a0002c0003t0002g0144others(20): Show | 24 | 244 | 0.0984 | 3346 | c.24+ others(3363): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3339): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0238 | 1 | 244 | 0.0041 | 3346 | c.24+ others(3363): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3339): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0243 | 1 | 244 | 0.0041 | 3346 | c.24+ others(3363): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3339): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0240 | 1 | 244 | 0.0041 | 3346 | c.24+ others(3363): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3339): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02970.hp1 |
a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0198a0002c0004t0015g0203a0002c0004t0015g0213 | 3 | 244 | 0.0123 | 3346 | c.24+ others(3363): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(3339): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0049 | a0049c0098 | a0049c0098t0001 | a0049c0098t0001g0122 | 1 | 174 | 0.0058 | 3346 | c.193 others(3365): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3339): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0011 | a0011c0028 | a0011c0028t0001 | a0011c0028t0001g0004 | 1 | 186 | 0.0054 | 3346 | c.723 others(3363): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3339): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 356 | 0.0028 | 3346 | c.114 others(3363): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3340): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0017 | a0002c0017t0034 | a0002c0017t0034g0016 | 1 | 244 | 0.0041 | 3347 | c.24+ others(3364): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3340): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03486.hp1 |
a0002a0008 | a0002c0004a0008c0014 | a0002c0004t0018a0002c0004t0041a0008c0014t0006 | a0002c0004t0018g0202a0002c0004t0041g0201a0008c0014t0006g0204 | 3 | 244 | 0.0123 | 3347 | c.24+ others(3364): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3340): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0211 | 1 | 244 | 0.0041 | 3347 | c.24+ others(3364): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3340): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0004 | a0002c0004t0030 | a0002c0004t0030g0209 | 1 | 244 | 0.0041 | 3347 | c.24+ others(3364): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3340): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01361.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0011a0002c0004t0029a0002c0004t0031 | a0002c0004t0011g0205a0002c0004t0011g0206a0002c0004t0011g0207others(3): Show | 6 | 244 | 0.0246 | 3347 | c.24+ others(3364): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90040651 | C | CTGAGAAC others(3340): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0133 | 1 | 390 | 0.0026 | 3347 | c.122 others(3364): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322730 | T | TGTATATA others(3340): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 323 | 0.0031 | 3347 | c.-23 others(3358): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2239 | chr21 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(3340): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0038 | a0038c0028 | a0038c0028t0001 | a0038c0028t0001g0196 | 1 | 292 | 0.0034 | 3347 | c.218 others(3364): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414422 | G | GGAGAAGG others(3340): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 373 | 0.0027 | 3347 | c.115 others(3364): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92916599 | G | GCCAAGAT others(3341): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0210 | 1 | 244 | 0.0041 | 3348 | c.24+ others(3365): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125149527 | T | TAAATTCA others(3341): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 244 | 0.0041 | 3348 | c.158 others(3365): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3342): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 282 | 0.0036 | 3349 | c.258 others(3366): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3342): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 80 | 0.0125 | 3349 | c.125 others(3366): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170165815 | C | CAAAGAAG others(3342): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 332 | 0.0030 | 3349 | c.414 others(3366): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3342): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 216 | 0.0046 | 3349 | c.-51 others(3368): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3342): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0013 | a0003c0013t0112 | a0003c0013t0112g0097 | 1 | 250 | 0.0040 | 3349 | c.-21 others(3366): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331528 | G | GACGGATG others(3343): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0023 | 1 | 40 | 0.0250 | 3350 | c.347 others(3371): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3343): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 80 | 0.0125 | 3350 | c.125 others(3367): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGCGT others(3343): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0012 | a0012c0035 | a0012c0035t0001 | a0012c0035t0001g0182 | 1 | 282 | 0.0036 | 3350 | c.299 others(3365): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(3343): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 332 | 0.0030 | 3350 | c.112 others(3367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(3343): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18964.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248a0001c0001t0002g0256a0001c0001t0002g0259 | 3 | 332 | 0.0090 | 3350 | c.112 others(3367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222599 | C | CTGGAGGT others(3343): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 190 | 0.0053 | 3350 | c.719 others(3369): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TMEM185A_chrX_149591556_149636792 | 149605396 | T | TCTATAGC others(3343): Show |
intron_variant | MODIFIER | NA18906.hp2 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014a0002c0003t0001g0067 | 2 | 259 | 0.0077 | 3350 | c.424 others(3367): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(3343): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 344 | 0.0029 | 3350 | c.218 others(3367): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400963 | C | CTCCACCA others(3344): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0091 | 1 | 256 | 0.0039 | 3351 | c.323 others(3370): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3347): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0084a0001c0001t0008g0098 | 2 | 175 | 0.0114 | 3354 | c.164 others(3373): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3347): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0162 | 1 | 423 | 0.0024 | 3354 | c.*19 others(3365): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(3347): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 295 | 0.0034 | 3354 | c.715 others(3371): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SEC23A_chr14_39026919_39108235 | 39065062 | T | TAAGAATA others(3347): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0320 | 1 | 366 | 0.0027 | 3354 | c.122 others(3369): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 10/19 | chr14 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(3347): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 190 | 0.0053 | 3354 | c.719 others(3373): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(3348): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 274 | 0.0037 | 3355 | c.179 others(3374): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(3348): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 289 | 0.0035 | 3355 | c.228 others(3376): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(3348): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 323 | 0.0031 | 3355 | c.-23 others(3366): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3348): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0049 | 1 | 216 | 0.0046 | 3355 | c.-51 others(3374): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3348): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0212 | 1 | 216 | 0.0046 | 3355 | c.-51 others(3374): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977078 | G | GGGGTCCC others(3348): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0021 | a0021c0045 | a0021c0045t0015 | a0021c0045t0015g0046 | 1 | 116 | 0.0086 | 3355 | c.199 others(3374): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3349): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0213 | 1 | 216 | 0.0046 | 3356 | c.-51 others(3375): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3349): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 216 | 0.0046 | 3356 | c.-51 others(3375): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3349): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0107 | 1 | 216 | 0.0046 | 3356 | c.-51 others(3375): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3349): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 216 | 0.0046 | 3356 | c.-51 others(3375): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |