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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(854): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0147 | 1 | 288 | 0.0035 | 861 | c.303 others(880): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(854): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 344 | 0.0029 | 861 | c.85- others(878): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(854): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 272 | 0.0037 | 861 | c.110 others(878): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(854): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0012a0001c0001t0002g0082a0001c0002t0001g0115others(8): Show | 11 | 272 | 0.0404 | 861 | c.110 others(878): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(854): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0166 | 1 | 272 | 0.0037 | 861 | c.110 others(878): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(854): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0068 | 1 | 272 | 0.0037 | 861 | c.110 others(878): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 448 | 0.0022 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 448 | 0.0022 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 448 | 0.0022 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02135.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0100 | 5 | 448 | 0.0112 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 NA18955.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0103a0001c0001t0002g0104others(2): Show | 6 | 448 | 0.0134 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(854): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 448 | 0.0022 | 861 | c.51+ others(876): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(854): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 240 | 0.0042 | 861 | c.*31 others(872): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(854): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 240 | 0.0042 | 861 | c.*31 others(872): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(854): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0001a0001c0002t0002g0005a0001c0002t0002g0006others(34): Show | 56 | 240 | 0.2333 | 861 | c.*31 others(872): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(854): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 240 | 0.0042 | 861 | c.*31 others(872): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642850 | A | AGGGTCAG others(854): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 861 | c.*22 others(872): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2145 | chr11 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(854): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp2 HG01258.hp2 others(27): Show |
a0001 | a0001c0002a0001c0004a0001c0010 | a0001c0002t0001a0001c0004t0001a0001c0010t0004 | a0001c0002t0001g0009a0001c0002t0001g0029a0001c0002t0001g0038others(9): Show | 30 | 374 | 0.0802 | 861 | c.772 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(854): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0082 | 1 | 374 | 0.0027 | 861 | c.772 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(854): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02148.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 2 | 374 | 0.0054 | 861 | c.772 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(854): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0002t0001g0006others(51): Show | 101 | 374 | 0.2701 | 861 | c.772 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(854): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0191 | 1 | 288 | 0.0035 | 861 | c.190 others(880): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(854): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 380 | 0.0026 | 861 | c.-27 others(872): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(854): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 366 | 0.0027 | 861 | c.666 others(878): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(854): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 274 | 0.0037 | 861 | c.804 others(878): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(854): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 323 | 0.0031 | 861 | c.-36 others(872): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(854): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 861 | c.-36 others(872): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(854): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 323 | 0.0031 | 861 | c.-19 others(872): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173155 | T | TCTCCCCC others(854): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0141 | 1 | 158 | 0.0063 | 861 | c.*11 others(882): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JUND_chr19_18274694_18286622 | 18284518 | A | AAAAATAA others(854): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG03654.hp1 NA19012.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0025 | a0001c0001t0002g0000a0001c0001t0005g0000a0001c0001t0025g0000 | 4 | 408 | 0.0098 | 861 | c.-30 others(872): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2897 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284518 | A | AAAAATAA others(854): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | 861 | c.-30 others(872): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2897 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(854): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | 861 | c.-30 others(872): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(854): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | 861 | c.-30 others(872): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(854): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0000a0001c0001t0005g0000a0001c0001t0010g0000 | 10 | 408 | 0.0245 | 861 | c.-30 others(872): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104185779 | A | ATGGGGTG others(854): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0172 | 1 | 374 | 0.0027 | 861 | c.*59 others(872): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4886 | chr14 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(854): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 370 | 0.0027 | 861 | c.-27 others(872): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(854): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0029 | 1 | 88 | 0.0114 | 861 | c.507 others(880): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(854): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 260 | 0.0039 | 861 | c.125 others(878): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(854): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 260 | 0.0039 | 861 | c.125 others(878): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(854): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 194 | 0.0052 | 861 | c.-12 others(880): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195760569 | G | GGGGGCTG others(854): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0022 | a0022c0096 | a0022c0096t0001 | a0022c0096t0001g0077 | 1 | 249 | 0.0040 | 861 | c.148 others(880): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535835 | G | GGGGGAGC others(854): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0313 | 1 | 324 | 0.0031 | 861 | c.140 others(878): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(854): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 378 | 0.0027 | 861 | c.-14 others(878): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331158 | G | GTACAATA others(854): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0050 | 1 | 296 | 0.0034 | 861 | c.240 others(878): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(854): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 380 | 0.0026 | 861 | c.255 others(880): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(854): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0024 | 1 | 402 | 0.0025 | 861 | c.*57 others(872): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(854): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0019 | 1 | 308 | 0.0033 | 861 | c.371 others(878): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(854): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0274 | 1 | 322 | 0.0031 | 861 | c.*48 others(872): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(854): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0002g0142others(18): Show | 22 | 338 | 0.0651 | 861 | c.-26 others(880): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(854): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 338 | 0.0030 | 861 | c.-26 others(880): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar |