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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0020 | a0009c0020t0003 | a0009c0020t0003g0130 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(725): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0088 | 1 | 230 | 0.0044 | 732 | c.126 others(749): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(725): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 208 | 0.0048 | 732 | c.-97 others(749): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0004g0002others(2): Show | 82 | 352 | 0.2330 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03225.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 352 | 0.0085 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(246): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(31): Show | 249 | 352 | 0.7074 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 352 | 0.0028 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 352 | 0.0028 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988243 | G | GGGTTCAA others(725): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 732 | c.-19 others(743): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1812 | chr8 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119313047 | G | GTGGTAAT others(725): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0193 | 1 | 202 | 0.0050 | 732 | c.53- others(749): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(725): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01106.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0043a0001c0001t0001g0197a0001c0001t0001g0198others(29): Show | 32 | 282 | 0.1135 | 732 | c.737 others(751): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323052 | T | TATATATA others(725): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 323 | 0.0031 | 732 | c.-20 others(743): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1917 | chr21 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1599469 | T | TGGGGGGG others(725): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021 | 1 | 334 | 0.0030 | 732 | c.369 others(749): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6259673 | T | TGTCCTCT others(725): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0011a0001c0002t0012 | a0001c0002t0006g0320a0001c0002t0006g0321a0001c0002t0011g0329others(1): Show | 4 | 362 | 0.0111 | 732 | c.*35 others(743): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1691 | chr9 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(725): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0006g0005a0001c0001t0007g0009 | 8 | 386 | 0.0207 | 732 | c.-46 others(743): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(725): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0122 | 1 | 398 | 0.0025 | 732 | c.64+ others(749): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322700 | T | TTATATAT others(725): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0056 | 1 | 242 | 0.0041 | 732 | c.174 others(751): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 2 | 370 | 0.0054 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 370 | 0.0081 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(725): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89398253 | A | ACTGTGAA others(725): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0024a0001c0001t0000g0025 | 2 | 366 | 0.0055 | 732 | c.9+2 others(747): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531174 | T | TGAAGGGC others(725): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4142 | chr8 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 398 | 0.0025 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364818 | C | CCTTACAT others(725): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0011 | 1 | 290 | 0.0035 | 732 | c.129 others(749): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAOB_chrX_43761610_43887450 | 43771629 | T | TTTACTTT others(725): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 234 | 0.0043 | 732 | c.123 others(751): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 12/14 | chrX | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0079 | 1 | 292 | 0.0034 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0016 | a0016c0014 | a0016c0014t0007 | a0016c0014t0007g0219 | 1 | 292 | 0.0034 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0202 | 1 | 292 | 0.0034 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(725): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 272 | 0.0037 | 732 | c.250 others(747): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCG others(725): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 140 | 0.0071 | 732 | c.114 others(751): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(725): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 256 | 0.0039 | 732 | c.241 others(751): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(725): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 312 | 0.0032 | 732 | c.293 others(751): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58209312 | C | CTCCCCCT others(725): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0114a0001c0001t0014g0108 | 2 | 118 | 0.0170 | 732 | c.123 others(751): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841437 | A | AGCAGGTC others(725): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 242 | 0.0041 | 732 | c.361 others(751): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841622 | A | ACCCACAG others(725): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0009 | a0001c0009t0013 | a0001c0009t0013g0196 | 1 | 242 | 0.0041 | 732 | c.361 others(751): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(725): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 439 | 0.0023 | 732 | c.-15 others(743): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(88): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(1): Show | a0002c0002t0002g0007a0002c0002t0002g0010a0002c0002t0002g0011others(75): Show | 91 | 380 | 0.2395 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG03225.hp2 NA21309.hp1 |
a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0204a0007c0009t0003g0205a0007c0009t0003g0206 | 3 | 380 | 0.0079 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(264): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0021a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(210): Show | 267 | 380 | 0.7026 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0223 | 1 | 380 | 0.0026 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0043 | 1 | 380 | 0.0026 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988243 | G | GGGTTCAA others(725): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0155 | 2 | 380 | 0.0053 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1784 | chr8 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCCCGCCC others(725): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 292 | 0.0034 | 732 | c.471 others(747): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PHF21B_chr22_44876162_45015005 | 44984158 | T | TAACCACC others(725): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0241a0001c0001t0001g0242a0001c0001t0001g0243others(1): Show | 4 | 300 | 0.0133 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 300 | 0.0033 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 300 | 0.0033 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 300 | 0.0033 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(52): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0033a0001c0001t0001g0149a0001c0001t0001g0150others(52): Show | 55 | 300 | 0.1833 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar |