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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2416): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0116 a0002c0002t0006g0121 |
2 | 262 | 0.0076 | 2423 | c.729 others(2440): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2416): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01258.hp1 HG03017.hp2 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0006a0002c0003t0006 | a0002c0002t0006g0111 a0002c0002t0006g0112 a0002c0002t0006g0114 others(3): Show |
6 | 262 | 0.0229 | 2423 | c.729 others(2440): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063934 | A | AGAGAGAG others(2416): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 167 | 0.0060 | 2423 | c.*53 others(2434): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2221 | chr13 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716103 | G | GTGTCATG others(2417): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0153 | 1 | 170 | 0.0059 | 2424 | c.86- others(2437): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2417): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 314 | 0.0032 | 2424 | c.-25 others(2441): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2417): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0119 | 1 | 262 | 0.0038 | 2424 | c.729 others(2441): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2417): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0252 a0002c0002t0006g0253 |
2 | 262 | 0.0076 | 2424 | c.729 others(2441): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2417): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0115 | 1 | 262 | 0.0038 | 2424 | c.729 others(2441): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
PRRC1_chr5_127512640_127560085 | 127514123 | A | ACTCTACT others(2417): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0061 |
2 | 340 | 0.0059 | 2424 | c.-36 others(2435): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 3516 | chr5 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2417): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0008 | a0008c0019 | a0008c0019t0009 | a0008c0019t0009g0013 | 1 | 214 | 0.0047 | 2424 | c.206 others(2443): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 62058768 | C | CGGGGGCC others(2417): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 314 | 0.0032 | 2424 | c.136 others(2443): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377693 | G | GCCGTGTT others(2418): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 384 | 0.0026 | 2425 | c.215 others(2442): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2418): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 294 | 0.0034 | 2425 | c.153 others(2444): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225457405 | T | TAAAAAAA others(2418): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 192 | 0.0052 | 2425 | c.221 others(2444): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2418): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0256 | 1 | 262 | 0.0038 | 2425 | c.729 others(2442): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGTGTG others(2418): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0005 | a0005c0014 | a0005c0014t0002 | a0005c0014t0002g0115 | 1 | 122 | 0.0082 | 2425 | c.164 others(2444): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGTGTG others(2418): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0010a0001c0033others(11): Show | a0001c0001t0002a0001c0010t0002a0001c0033t0002others(11): Show | a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 others(27): Show |
30 | 122 | 0.2459 | 2425 | c.164 others(2444): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954476 | G | GGGTAGGG others(2418): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 126 | 0.0079 | 2425 | c.-28 others(2444): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2419): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0305 | 1 | 344 | 0.0029 | 2426 | c.127 others(2443): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(2419): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 344 | 0.0029 | 2426 | c.127 others(2443): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420902 | T | TCTTCTGT others(2419): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0006 | a0006c0006 | a0006c0006t0011 | a0006c0006t0011g0103 | 1 | 432 | 0.0023 | 2426 | c.413 others(2443): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2419): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18973.hp1 NA18990.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0227 a0001c0003t0005g0229 a0001c0003t0005g0230 others(1): Show |
4 | 390 | 0.0103 | 2426 | c.259 others(2443): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2420): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0048 | a0001c0005t0048g0198 | 1 | 337 | 0.0030 | 2427 | c.179 others(2448): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420888 | T | TTCCATTA others(2420): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0327 | 1 | 432 | 0.0023 | 2427 | c.413 others(2444): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2420): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0008 | 1 | 276 | 0.0036 | 2427 | c.*52 others(2438): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251127 | C | CCCCCACA others(2420): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 116 | 0.0086 | 2427 | c.207 others(2446): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2420): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0010 | 1 | 40 | 0.0250 | 2427 | c.169 others(2444): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2420): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0079 |
2 | 346 | 0.0058 | 2427 | c.-17 others(2438): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2420): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 421 | 0.0024 | 2427 | c.*14 others(2438): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2420): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 294 | 0.0034 | 2427 | c.515 others(2444): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543527 | G | GGGCACGG others(2420): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0063 | 1 | 286 | 0.0035 | 2427 | c.153 others(2444): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2420): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 375 | 0.0053 | 2427 | c.*44 others(2438): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2420): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 375 | 0.0053 | 2427 | c.*44 others(2438): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251132 | C | CAACACCA others(2420): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2427 | c.*44 others(2438): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3117 | chr10 | TogoVar | |||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2420): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0232 | 1 | 390 | 0.0026 | 2427 | c.259 others(2444): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169628 | C | CCCTCCCT others(2420): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0019 | 1 | 115 | 0.0087 | 2427 | c.*40 others(2436): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 315 | chrX | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068 a0001c0001t0003g0139 a0001c0001t0003g0140 |
3 | 345 | 0.0087 | 2428 | c.*17 others(2439): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 345 | 0.0029 | 2428 | c.*17 others(2439): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 345 | 0.0029 | 2428 | c.*17 others(2439): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 345 | 0.0029 | 2428 | c.*17 others(2439): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 345 | 0.0029 | 2428 | c.*17 others(2439): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 |
2 | 421 | 0.0048 | 2428 | c.*22 others(2439): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 421 | 0.0048 | 2428 | c.*22 others(2439): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0003 | 1 | 421 | 0.0024 | 2428 | c.*22 others(2439): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2421): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2428 | c.*22 others(2439): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(2421): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0004 | a0003c0004t0050 | a0003c0004t0050g0133 | 1 | 308 | 0.0033 | 2428 | c.157 others(2443): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2421): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 116 | 0.0086 | 2428 | c.522 others(2445): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PROS1_chr3_93868051_93978896 | 93964932 | T | TAAGAATC others(2421): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 314 | 0.0032 | 2428 | c.76+ others(2443): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
RCVRN_chr17_9891320_9910271 | 9901444 | T | TATATCTT others(2421): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0014others(5): Show | a0001c0001t0009g0014 a0001c0001t0010g0026 a0001c0001t0010g0043 others(8): Show |
25 | 480 | 0.0521 | 2428 | c.382 others(2443): Show |
RCVRN | ENSG00000109047.8 | transcript | ENST00000226193.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2421): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 445 | 0.0023 | 2428 | c.-15 others(2439): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar |