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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1030): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 318 | 0.0031 | 1037 | c.-49 others(1048): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1030): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 | 1 | 318 | 0.0031 | 1037 | c.-49 others(1048): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309783 | T | TGGCCGCC others(1030): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 360 | 0.0028 | 1037 | c.368 others(1054): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1030): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 376 | 0.0027 | 1037 | c.*15 others(1048): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934777 | G | GCGTTACA others(1030): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 434 | 0.0023 | 1037 | c.843 others(1052): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1030): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0187 | 1 | 214 | 0.0047 | 1037 | c.206 others(1056): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(1030): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19070.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 238 | 0.0126 | 1037 | c.392 others(1054): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100276383 | A | AATGGGAG others(1031): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(21): Show |
a0002a0004a0007 | a0002c0001a0002c0004a0002c0011others(10): Show | a0002c0001t0002a0002c0001t0016a0002c0001t0031others(17): Show | a0002c0001t0002g0058a0002c0001t0002g0144a0002c0001t0002g0145others(21): Show | 24 | 228 | 0.1053 | 1038 | c.789 others(1055): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1031): Show |
3_prime_UTR_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0085 | 1 | 350 | 0.0029 | 1038 | c.*23 others(1049): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1031): Show |
3_prime_UTR_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0020 | 1 | 350 | 0.0029 | 1038 | c.*23 others(1049): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1031): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0043 | a0001c0002t0017g0007a0001c0002t0017g0050a0001c0002t0043g0177others(1): Show | 5 | 350 | 0.0143 | 1038 | c.*23 others(1049): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1031): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0220 | 1 | 350 | 0.0029 | 1038 | c.*23 others(1049): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1031): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0031a0001c0001t0044a0001c0001t0066others(18): Show | a0001c0001t0031g0320a0001c0001t0044g0290a0001c0001t0066g0326others(77): Show | 82 | 350 | 0.2343 | 1038 | c.*23 others(1049): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ARHGAP18_chr6_129571132_129715177 | 129619469 | G | GGGGAGGG others(1031): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 238 | 0.0042 | 1038 | c.787 others(1053): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221 | 1 | 318 | 0.0031 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 318 | 0.0031 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 318 | 0.0031 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1031): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 318 | 0.0031 | 1038 | c.285 others(1057): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1031): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1038 | c.*36 others(1049): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972300 | T | TGACCACA others(1031): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0022a0001c0007t0005a0001c0012t0001others(1): Show | a0001c0001t0022g0239a0001c0007t0005g0233a0001c0012t0001g0124others(1): Show | 5 | 266 | 0.0188 | 1038 | c.460 others(1055): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1031): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0190 | 1 | 326 | 0.0031 | 1038 | c.327 others(1055): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1031): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0211 | 1 | 278 | 0.0036 | 1038 | c.328 others(1055): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1031): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0120 | 1 | 278 | 0.0036 | 1038 | c.328 others(1055): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1031): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0025a0001c0001t0004g0026a0001c0001t0009g0010others(2): Show | 5 | 320 | 0.0156 | 1038 | c.380 others(1055): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131978121 | A | ATTATTAT others(1031): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 94 | 0.0106 | 1038 | c.-2+ others(1055): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0180a0001c0001t0006g0184 | 2 | 290 | 0.0069 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01433.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0219a0001c0001t0002g0177a0001c0001t0002g0217others(1): Show | 4 | 290 | 0.0138 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1031): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0234 | 1 | 290 | 0.0035 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210a0001c0001t0003g0227 | 2 | 290 | 0.0069 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1031): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(3): Show | a0001c0001t0002g0281a0001c0001t0002g0283a0001c0001t0002g0284others(21): Show | 24 | 290 | 0.0828 | 1038 | c.162 others(1057): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(1031): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 374 | 0.0027 | 1038 | c.*14 others(1049): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492086 | G | GTGGATGG others(1031): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020 | 6 | 374 | 0.0160 | 1038 | c.772 others(1055): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1031): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0018 | a0018c0077 | a0018c0077t0002 | a0018c0077t0002g0231 | 1 | 292 | 0.0034 | 1038 | c.228 others(1055): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1031): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0012 | a0012c0027 | a0012c0027t0002 | a0012c0027t0002g0233 | 1 | 292 | 0.0034 | 1038 | c.228 others(1055): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1031): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG03195.hp2 |
a0001 | a0001c0009 | a0001c0009t0006a0001c0009t0024 | a0001c0009t0006g0075a0001c0009t0024g0012 | 2 | 369 | 0.0054 | 1038 | c.-49 others(1049): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1031): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0070 | 1 | 369 | 0.0027 | 1038 | c.-49 others(1049): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(1031): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 292 | 0.0034 | 1038 | c.377 others(1055): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1031): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 1038 | c.-72 others(1047): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948839 | C | CCCCCCGG others(1031): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 242 | 0.0041 | 1038 | c.360 others(1057): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949673 | C | CCCCCCTG others(1031): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 242 | 0.0041 | 1038 | c.360 others(1057): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344611 | G | AGGGGGTT others(1031): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 367 | 0.0055 | 1038 | c.4-1 others(1051): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1031): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0071a0001c0001t0031g0218 | 2 | 288 | 0.0069 | 1038 | c.127 others(1055): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACAC others(1031): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0006a0001c0001t0019a0001c0001t0030others(7): Show | a0001c0001t0006g0023a0001c0001t0006g0053a0001c0001t0006g0099others(14): Show | 17 | 288 | 0.0590 | 1038 | c.127 others(1055): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | AAATATAT others(1031): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 186 | 0.0054 | 1038 | c.-50 others(1049): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar |