| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MLPH_chr2_237482251_237560322 | 237544562 | G | GGCACGGT others(247): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02602.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044a0002c0002t0001g0127a0002c0002t0001g0221 | 3 | 286 | 0.0105 | 254 | c.153 others(273): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144203163 | G | GGGAGCGC others(247): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0013 | 1 | 140 | 0.0071 | 254 | c.114 others(273): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(247): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0078 | 1 | 410 | 0.0024 | 254 | c.484 others(269): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
| MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(247): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0079 | 1 | 410 | 0.0024 | 254 | c.484 others(269): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(247): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0011 | 1 | 384 | 0.0026 | 254 | c.160 others(271): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71928131 | C | CATATGTG others(247): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0006 | 1 | 64 | 0.0156 | 254 | c.409 others(271): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995422 | C | CTGTATGT others(247): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 362 | 0.0028 | 254 | c.-75 others(273): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(247): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 356 | 0.0028 | 254 | c.91+ others(267): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NTM_chr11_131365615_132341822 | 131680951 | G | GTCTGTGT others(247): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 86 | 0.0116 | 254 | c.83- others(273): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(247): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232a0001c0001t0002g0240 | 2 | 296 | 0.0068 | 254 | c.-20 others(263): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(247): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 296 | 0.0034 | 254 | c.-20 others(263): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(247): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 296 | 0.0034 | 254 | c.-20 others(263): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | ||||||
| OIP5_chr15_41304273_41337591 | 41327585 | T | TAAGACCA others(247): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02922.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011a0003c0003t0002g0037 | 5 | 356 | 0.0140 | 254 | c.389 others(271): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
| OPRM1_chr6_154034240_154137356 | 154100218 | C | CATATCAT others(247): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0170 | 1 | 268 | 0.0037 | 254 | c.116 others(273): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(247): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | 254 | c.-23 others(265): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(247): Show |
intron_variant | MODIFIER | HG01070.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0171 | 2 | 302 | 0.0066 | 254 | c.155 others(271): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(247): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 302 | 0.0033 | 254 | c.155 others(271): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(247): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0278 | 1 | 302 | 0.0033 | 254 | c.155 others(271): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(247): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 302 | 0.0033 | 254 | c.155 others(271): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721572 | T | TATATATG others(247): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 400 | 0.0025 | 254 | c.*70 others(265): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3092 | chr20 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45886279 | G | GCCAAGGG others(247): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0215a0001c0002t0009g0285 | 2 | 292 | 0.0069 | 254 | c.11- others(269): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45909853 | G | CCCACCCA others(247): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 292 | 0.0034 | 254 | c.471 others(266): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(247): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0310 | 1 | 360 | 0.0028 | 254 | c.*36 others(265): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(247): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 360 | 0.0028 | 254 | c.*36 others(265): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(247): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 360 | 0.0028 | 254 | c.*36 others(265): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(247): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0283 | 1 | 360 | 0.0028 | 254 | c.*36 others(265): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(247): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 360 | 0.0028 | 254 | c.*36 others(265): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(247): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0086 | 1 | 358 | 0.0028 | 254 | c.*44 others(265): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(247): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0006g0062 | 7 | 358 | 0.0196 | 254 | c.*44 others(265): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(247): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 358 | 0.0028 | 254 | c.*44 others(265): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PGBD2_chr1_248901235_248924146 | 248911696 | T | TGGGCAGA others(247): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 422 | 0.0024 | 254 | c.-47 others(271): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PGBD2_chr1_248901235_248924146 | 248911738 | G | GGGCGGGG others(247): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0042 | 9 | 422 | 0.0213 | 254 | c.-47 others(271): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(247): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp1 others(6): Show |
a0002a0007a0046others(2): Show | a0002c0006a0007c0014a0007c0140others(3): Show | a0002c0006t0001a0007c0014t0003a0007c0140t0001others(3): Show | a0002c0006t0001g0128a0007c0014t0003g0021a0007c0014t0003g0023others(6): Show | 9 | 282 | 0.0319 | 254 | c.*26 others(265): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
| PIWIL1_chr12_130332887_130377637 | 130338403 | G | GGAGATGC others(247): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01346.hp1 HG01943.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0022a0001c0002t0014g0099a0001c0002t0014g0100 | 4 | 425 | 0.0094 | 254 | c.-13 others(269): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIWIL1_chr12_130332887_130377637 | 130338525 | C | CGGGAGAT others(247): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0246 | 1 | 425 | 0.0024 | 254 | c.-13 others(269): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIWIL1_chr12_130332887_130377637 | 130338547 | C | CGGGGTCG others(247): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0242 | 1 | 425 | 0.0024 | 254 | c.-13 others(269): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PJA2_chr5_109329722_109414974 | 109340619 | C | CCTCTCCC others(247): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0114 | 1 | 346 | 0.0029 | 254 | c.200 others(273): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
| PLA2R1_chr2_159927006_160067615 | 159969772 | A | AAGTACTG others(247): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0310 | 1 | 326 | 0.0031 | 254 | c.266 others(271): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 18/29 | chr2 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 165281 | G | GCGGAGCT others(247): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0143a0001c0007t0008g0145 | 2 | 210 | 0.0095 | 254 | c.347 others(273): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(247): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 286 | 0.0035 | 254 | c.-50 others(265): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
| PTPRM_chr18_7562316_8411856 | 7985312 | C | CGTATATA others(247): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0040a0001c0003t0003g0071 | 2 | 80 | 0.0250 | 254 | c.113 others(275): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | ||||||
| PTPRM_chr18_7562316_8411856 | 7985312 | C | CGTATATA others(247): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01515.hp2 HG02258.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0045a0001c0003t0001g0018a0001c0003t0001g0064 | 3 | 80 | 0.0375 | 254 | c.113 others(275): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | ||||||
| PTPRM_chr18_7562316_8411856 | 7985342 | C | CGTATATA others(247): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 80 | 0.0125 | 254 | c.113 others(275): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44863291 | G | GCCACGGC others(247): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0261 | 1 | 444 | 0.0023 | 254 | c.169 others(271): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| PTTG1IP_chr21_44844598_44878690 | 44863291 | G | GCCACGGC others(247): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008a0001c0001t0007g0258a0001c0001t0007g0259others(1): Show | 8 | 444 | 0.0180 | 254 | c.169 others(271): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| RALGAPA2_chr20_20384530_20717644 | 20458860 | A | ATATATAT others(247): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 122 | 0.0082 | 254 | c.549 others(275): Show |
RALGAPA2 | ENSG00000188559.16 | transcript | ENST00000202677.12 | protein_coding | 37/39 | chr20 | TogoVar | ||||||
| RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCCTC others(247): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0087 | 1 | 354 | 0.0028 | 254 | c.365 others(269): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCCTC others(247): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01169.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0211others(1): Show | 5 | 354 | 0.0141 | 254 | c.365 others(269): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCCTC others(247): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 354 | 0.0028 | 254 | c.365 others(269): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(247): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 280 | 0.0036 | 254 | c.3+2 others(269): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar |