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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01070.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0167 others(21): Show |
25 | 336 | 0.0744 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0008 | a0001c0001t0001g0280 a0001c0001t0011g0269 a0001c0001t0011g0278 others(1): Show |
4 | 336 | 0.0119 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2410): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0048 | a0001c0001t0031g0276 a0001c0001t0048g0264 |
2 | 336 | 0.0060 | 2417 | c.284 others(2436): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(2410): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0348 | 1 | 375 | 0.0027 | 2417 | c.-20 others(2428): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(2410): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0005a0001c0007a0001c0014 | a0001c0005t0004a0001c0007t0003a0001c0014t0003 | a0001c0005t0004g0019 a0001c0005t0004g0021 a0001c0005t0004g0110 others(5): Show |
8 | 292 | 0.0274 | 2417 | c.324 others(2434): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGAAAA others(2410): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02145.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0047a0002c0002others(3): Show | a0001c0001t0001a0001c0047t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 others(6): Show |
9 | 122 | 0.0738 | 2417 | c.164 others(2436): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGAAAA others(2410): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 |
a0005a0006 | a0005c0014a0006c0007 | a0005c0014t0001a0006c0007t0001 | a0005c0014t0001g0030 a0006c0007t0001g0029 |
2 | 122 | 0.0164 | 2417 | c.164 others(2436): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51790811 | T | TGTGAAAA others(2410): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0031 | 1 | 122 | 0.0082 | 2417 | c.164 others(2436): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37166539 | T | TTCCTCCC others(2410): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 354 | 0.0028 | 2417 | c.*13 others(2428): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1280 | chr2 | TogoVar | |||||||
TMEM167A_chr5_83047846_83082394 | 83059476 | C | CTTTACTT others(2410): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 |
3 | 364 | 0.0082 | 2417 | c.149 others(2434): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(2411): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0164 | 1 | 210 | 0.0048 | 2418 | c.273 others(2435): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2411): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0171 a0001c0002t0002g0012 |
2 | 175 | 0.0114 | 2418 | c.164 others(2437): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2411): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0069 | a0069c0046 | a0069c0046t0001 | a0069c0046t0001g0343 | 1 | 369 | 0.0027 | 2418 | c.-50 others(2429): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355462 | A | AAAGGAGG others(2411): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0020 | a0020c0034 | a0020c0034t0001 | a0020c0034t0001g0017 | 1 | 82 | 0.0122 | 2418 | c.758 others(2433): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(2411): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0235 | a0001c0001t0235g0250 | 1 | 276 | 0.0036 | 2418 | c.*65 others(2429): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(2411): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | 364 | 0.0055 | 2418 | c.418 others(2435): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2411): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 116 | 0.0086 | 2418 | c.522 others(2435): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(2411): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0020 | 1 | 292 | 0.0034 | 2418 | c.324 others(2435): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(2411): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 188 | 0.0053 | 2418 | c.147 others(2435): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2411): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2418 | c.*44 others(2429): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
TMEM167A_chr5_83047846_83082394 | 83059476 | C | CTTTACTT others(2411): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 364 | 0.0028 | 2418 | c.149 others(2435): Show |
TMEM167A | ENSG00000174695.10 | transcript | ENST00000502346.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2412): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 342 | 0.0029 | 2419 | c.366 others(2436): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2412): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0036 | 1 | 40 | 0.0250 | 2419 | c.169 others(2436): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2412): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0056 | 1 | 116 | 0.0086 | 2419 | c.522 others(2436): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2413): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0262 | 1 | 390 | 0.0026 | 2420 | c.109 others(2435): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(2413): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 236 | 0.0042 | 2420 | c.294 others(2437): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2413): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18971.hp2 |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0011 | a0001c0005t0002g0016 a0001c0005t0011g0023 |
2 | 40 | 0.0500 | 2420 | c.169 others(2437): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2413): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 301 | 0.0033 | 2420 | c.-11 others(2431): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150717 | C | CACCACAC others(2413): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 294 | 0.0034 | 2420 | c.902 others(2435): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2413): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0036 | 1 | 68 | 0.0147 | 2420 | c.61+ others(2439): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2413): Show |
intron_variant | MODIFIER | HG00738.hp1 NA20300.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0225 a0001c0003t0005g0228 |
2 | 390 | 0.0051 | 2420 | c.259 others(2437): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2414): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0014 | 1 | 40 | 0.0250 | 2421 | c.169 others(2438): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2414): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0085 | a0004c0085t0004 | a0004c0085t0004g0328 | 1 | 369 | 0.0027 | 2421 | c.-50 others(2432): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2414): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2421 | c.-17 others(2432): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(2414): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 a0001c0001t0002g0271 |
2 | 314 | 0.0064 | 2421 | c.-25 others(2438): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2414): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 116 | 0.0086 | 2421 | c.522 others(2438): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237765 | T | TTTATACT others(2414): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 439 | 0.0023 | 2421 | c.-15 others(2432): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1520 | chr14 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2414): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2421 | c.*44 others(2432): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2414): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG01928.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0000 a0001c0001t0004g0000 |
12 | 375 | 0.0320 | 2421 | c.*44 others(2432): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2414): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2421 | c.*44 others(2432): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2414): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2421 | c.*44 others(2432): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2414): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 375 | 0.0053 | 2421 | c.*44 others(2432): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2415): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 334 | 0.0030 | 2422 | c.147 others(2439): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2415): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0332 | 1 | 369 | 0.0027 | 2422 | c.-50 others(2433): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120111 | T | TGGAGGAG others(2415): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 368 | 0.0027 | 2422 | c.353 others(2439): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174087491 | T | TCTATAAT others(2415): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0113 | 1 | 262 | 0.0038 | 2422 | c.729 others(2439): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2415): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0226 | 1 | 390 | 0.0026 | 2422 | c.259 others(2439): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2415): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0275 a0001c0002t0006g0279 |
2 | 326 | 0.0061 | 2422 | c.*56 others(2433): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2416): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(20): Show |
23 | 344 | 0.0669 | 2423 | c.127 others(2440): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2416): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 344 | 0.0029 | 2423 | c.127 others(2440): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |