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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 273576 | G | GTCAGGGA others(4977): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 59 | 0.0169 | 4984 | c.438 others(5001): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 412565 | G | GGGGGGGG others(4983): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 217 | 0.0046 | 4990 | c.-15 others(5009): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4984): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 13 | 0.0769 | 4991 | c.215 others(5008): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864117 | C | CCATTCCC others(4985): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 | 1 | 172 | 0.0058 | 4992 | c.225 others(5009): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4987): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0166 | 1 | 8 | 0.1250 | 4994 | c.-45 others(5003): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(4987): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 87 | 0.0115 | 4994 | c.773 others(5009): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(4988): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0059 | 1 | 228 | 0.0044 | 4995 | c.101 others(5012): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCAC others(4989): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0264 | 1 | 215 | 0.0047 | 4996 | c.129 others(5013): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4990): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 55 | 0.0182 | 4997 | c.891 others(5012): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(4991): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 317 | 0.0032 | 4998 | c.401 others(5015): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(4992): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0280 | 1 | 251 | 0.0040 | 4999 | c.955 others(5016): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(4992): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 2 | 0.5000 | 4999 | c.287 others(5018): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432184 | A | AGGGTGGA others(4992): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0154 | 1 | 374 | 0.0027 | 4999 | c.101 others(5016): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |