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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1733): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 113 | 0.0088 | 1740 | c.*53 others(1751): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1733): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0125 | 1 | 35 | 0.0286 | 1740 | c.-28 others(1759): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932721 | T | TGGGGAGA others(1734): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0130 | 1 | 211 | 0.0047 | 1741 | c.198 others(1758): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1734): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 7 | 0.1429 | 1741 | c.*16 others(1752): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1734): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1741 | c.*22 others(1752): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
ITCH_chr20_34358273_34516773 | 34359045 | A | AGCTAATT others(1734): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0124 a0001c0001t0006g0125 |
2 | 292 | 0.0068 | 1741 | c.-44 others(1752): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 4227 | chr20 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1734): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0018 | a0008c0018t0025 | a0008c0018t0025g0039 | 1 | 192 | 0.0052 | 1741 | c.292 others(1760): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(1734): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0014 | a0004c0014t0028 | a0004c0014t0028g0152 | 1 | 17 | 0.0588 | 1741 | c.*11 others(1762): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1734): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 27 | 0.0370 | 1741 | c.147 others(1760): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1734): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 27 | 0.0370 | 1741 | c.147 others(1760): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1734): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 27 | 0.0370 | 1741 | c.147 others(1760): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1734): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 27 | 0.0370 | 1741 | c.147 others(1760): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1734): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0173 | 1 | 7 | 0.1429 | 1741 | c.279 others(1758): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948595 | G | GGGGATGT others(1734): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 323 | 0.0031 | 1741 | c.114 others(1758): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917310 | A | AGCTCGGA others(1734): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0177 | 1 | 40 | 0.0250 | 1741 | c.218 others(1756): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1735): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 16 | 0.0625 | 1742 | c.164 others(1761): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1735): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0010 | 1 | 16 | 0.0625 | 1742 | c.164 others(1761): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1735): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 a0001c0001t0004g0115 |
3 | 32 | 0.0938 | 1742 | c.445 others(1757): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1735): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 | 1 | 13 | 0.0769 | 1742 | c.109 others(1761): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(1735): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 52 | 0.0192 | 1742 | c.259 others(1761): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1735): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 47 | 0.0213 | 1742 | c.338 others(1761): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1735): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18988.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0058 |
3 | 29 | 0.1034 | 1742 | c.147 others(1761): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1735): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 27 | 0.0370 | 1742 | c.147 others(1761): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1735): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 27 | 0.0370 | 1742 | c.147 others(1761): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1735): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 27 | 0.0370 | 1742 | c.147 others(1761): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(1735): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 202 | 0.0050 | 1742 | c.624 others(1759): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(1735): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0069 | 1 | 190 | 0.0053 | 1742 | c.902 others(1757): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1735): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG03041.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0003 | a0002c0004t0002g0267 a0002c0004t0003g0019 a0002c0004t0003g0265 others(1): Show |
5 | 320 | 0.0156 | 1742 | c.-49 others(1753): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398613 | C | CTACCCCC others(1735): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 193 | 0.0052 | 1742 | c.106 others(1759): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1735): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0012 | a0001c0012t0060 | a0001c0012t0060g0107 | 1 | 132 | 0.0076 | 1742 | c.126 others(1761): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1735): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0101 | 1 | 18 | 0.0556 | 1742 | c.-28 others(1761): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1735): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 7 | 0.1429 | 1742 | c.279 others(1759): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1302096 | A | ATTTCTAA others(1735): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0175 | 1 | 340 | 0.0029 | 1742 | c.440 others(1759): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747813 | G | GCTGGGGT others(1735): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 236 | 0.0042 | 1742 | c.189 others(1757): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917308 | G | GCTGTGGG others(1735): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 138 | 0.0072 | 1742 | c.218 others(1759): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(1736): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0012 | a0012c0031 | a0012c0031t0004 | a0012c0031t0004g0136 | 1 | 293 | 0.0034 | 1743 | c.170 others(1764): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1736): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0196 | 1 | 236 | 0.0042 | 1743 | c.268 others(1762): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298242 | T | TCCTACCC others(1736): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 141 | 0.0071 | 1743 | c.811 others(1760): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1736): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 1743 | c.*31 others(1754): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1736): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 7 | 0.1429 | 1743 | c.*16 others(1754): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1736): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 7 | 0.1429 | 1743 | c.*22 others(1754): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1736): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20905.hp2 |
a0002a0003 | a0002c0005a0003c0007 | a0002c0005t0011a0003c0007t0002 | a0002c0005t0011g0020 a0003c0007t0002g0074 |
2 | 4 | 0.5000 | 1743 | c.219 others(1762): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1736): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 11 | 0.0909 | 1743 | c.104 others(1762): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325136 | C | CTTCCTTC others(1736): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 72 | 0.0139 | 1743 | c.125 others(1760): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1736): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0039 | 1 | 101 | 0.0099 | 1743 | c.133 others(1762): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(1736): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0268 | 1 | 331 | 0.0030 | 1743 | c.-49 others(1754): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1736): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0294 | 1 | 316 | 0.0032 | 1743 | c.-49 others(1754): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1736): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0276 | 1 | 316 | 0.0032 | 1743 | c.-49 others(1754): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1736): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013 | 1 | 18 | 0.0556 | 1743 | c.-28 others(1762): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1736): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0128 | 1 | 18 | 0.0556 | 1743 | c.-28 others(1762): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |