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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0305 | 1 | 324 | 0.0031 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01099.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0042a0001c0001t0001g0156a0001c0001t0001g0169others(57): Show | 60 | 324 | 0.1852 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 324 | 0.0031 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0068 | a0001c0001t0002g0234a0001c0001t0006g0319a0001c0001t0068g0150 | 3 | 324 | 0.0093 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(651): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0304 | 1 | 324 | 0.0031 | 658 | c.110 others(675): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CLDN8_chr21_30209006_30221097 | 30210287 | A | ATATATAT others(651): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 466 | 0.0022 | 658 | c.*49 others(669): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3718 | chr21 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134760054 | A | ACACCCAC others(651): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 NA20300.hp2 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0003a0001c0005t0006a0001c0007t0023 | a0001c0005t0003g0265a0001c0005t0006g0040a0001c0007t0023g0232 | 3 | 272 | 0.0110 | 658 | c.193 others(677): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131978284 | A | ATATATAT others(651): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 94 | 0.0106 | 658 | c.-2+ others(675): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(651): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 216 | 0.0046 | 658 | c.923 others(677): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(651): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 216 | 0.0046 | 658 | c.923 others(677): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(651): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 216 | 0.0046 | 658 | c.923 others(677): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(651): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0183 | 1 | 216 | 0.0046 | 658 | c.923 others(677): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619312 | C | CGCTCCCC others(651): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 250 | 0.0040 | 658 | c.-10 others(677): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DUS3L_chr19_5780140_5796163 | 5787204 | G | GGTGGGAG others(651): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 364 | 0.0028 | 658 | c.127 others(673): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(651): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0171a0001c0001t0001g0186a0001c0001t0001g0188others(5): Show | 8 | 346 | 0.0231 | 658 | c.-76 others(675): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FAM3B_chr21_41311801_41362727 | 41313618 | T | TTTGATCC others(651): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 NA18952.hp2 NA18955.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0226 | 5 | 314 | 0.0159 | 658 | c.-32 others(669): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3182 | chr21 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(651): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 208 | 0.0096 | 658 | c.-97 others(675): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(651): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 208 | 0.0048 | 658 | c.-97 others(675): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(651): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 323 | 0.0031 | 658 | c.-36 others(669): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(651): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0100 | 1 | 323 | 0.0031 | 658 | c.-36 others(669): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(651): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 658 | c.-21 others(669): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(651): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0004 | a0001c0004t0037 | a0001c0004t0037g0208 | 1 | 282 | 0.0036 | 658 | c.623 others(675): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(651): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 312 | 0.0032 | 658 | c.-41 others(673): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(651): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0047 | 1 | 386 | 0.0026 | 658 | c.-46 others(669): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(651): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 242 | 0.0041 | 658 | c.174 others(677): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409037 | C | CCTCCTCT others(651): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0085 | 1 | 370 | 0.0027 | 658 | c.-27 others(669): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2703 | chr12 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471507 | T | TATATAAA others(651): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0258 | 1 | 260 | 0.0039 | 658 | c.125 others(675): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(651): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 260 | 0.0039 | 658 | c.125 others(675): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 857729 | C | CAGTGGTG others(651): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0216 | 1 | 294 | 0.0034 | 658 | c.153 others(677): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(651): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 658 | c.-30 others(669): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(651): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 658 | c.-30 others(669): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(651): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0013 | a0013c0028 | a0013c0028t0001 | a0013c0028t0001g0212 | 1 | 296 | 0.0034 | 658 | c.368 others(675): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159874329 | T | TATATATA others(651): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0253 | 1 | 330 | 0.0030 | 658 | c.197 others(677): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(651): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 300 | 0.0033 | 658 | c.134 others(677): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(651): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0054 | a0054c0099 | a0054c0099t0052 | a0054c0099t0052g0201 | 1 | 292 | 0.0034 | 658 | c.218 others(673): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(651): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 140 | 0.0071 | 658 | c.114 others(677): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(651): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 140 | 0.0071 | 658 | c.114 others(677): 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(651): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 410 | 0.0024 | 658 | c.484 others(673): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(651): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 364 | 0.0028 | 658 | c.394 others(673): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(651): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 364 | 0.0028 | 658 | c.394 others(673): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(651): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 66 | 0.0152 | 658 | c.474 others(677): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCCAGTC others(651): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0180 | 1 | 324 | 0.0031 | 658 | c.140 others(675): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01255.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0044others(17): Show | 20 | 86 | 0.2326 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0002g0040others(6): Show | 9 | 86 | 0.1047 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01496.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0037others(8): Show | 11 | 86 | 0.1279 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02451.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0002g0047others(4): Show | 7 | 86 | 0.0814 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 86 | 0.0116 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(651): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01074.hp2 others(10): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0006g0059others(8): Show | 13 | 350 | 0.0371 | 658 | c.-27 others(669): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(651): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 408 | 0.0025 | 658 | c.215 others(675): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(651): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03130.hp1 others(2): Show |
a0005a0011a0015others(1): Show | a0005c0014a0011c0018a0015c0058others(1): Show | a0005c0014t0006a0011c0018t0006a0015c0058t0015others(1): Show | a0005c0014t0006g0280a0005c0014t0006g0285a0011c0018t0006g0282others(2): Show | 5 | 322 | 0.0155 | 658 | c.*48 others(669): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar |