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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPS10_chr6_42201807_42222861 | 42222472 | T | TTTACACA others(2549): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0103 | 1 | 404 | 0.0025 | 2556 | c.-46 others(2567): Show |
MRPS10 | ENSG00000048544.6 | transcript | ENST00000053468.4 | protein_coding | 4612 | chr6 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2549): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03471.hp2 others(1): Show |
a0002a0034 | a0002c0007a0034c0049 | a0002c0007t0004a0034c0049t0004 | a0002c0007t0004g0001 a0002c0007t0004g0064 a0002c0007t0004g0081 others(1): Show |
4 | 210 | 0.0191 | 2556 | c.235 others(2575): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2549): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 167 | 0.0060 | 2556 | c.*53 others(2567): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2549): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0092 | 1 | 371 | 0.0027 | 2556 | c.-47 others(2567): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2550): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 398 | 0.0025 | 2557 | c.409 others(2574): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2550): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 334 | 0.0030 | 2557 | c.147 others(2574): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2550): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0082 | 1 | 210 | 0.0048 | 2557 | c.235 others(2576): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2550): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0065 | 1 | 210 | 0.0048 | 2557 | c.235 others(2576): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(2550): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 338 | 0.0030 | 2557 | c.*35 others(2576): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2550): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 371 | 0.0027 | 2557 | c.-47 others(2568): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2550): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0111 | 1 | 371 | 0.0027 | 2557 | c.-47 others(2568): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2551): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 316 | 0.0032 | 2558 | c.44- others(2571): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2551): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 316 | 0.0032 | 2558 | c.44- others(2571): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2551): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 316 | 0.0032 | 2558 | c.44- others(2571): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2551): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 |
a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0098 a0014c0013t0001g0106 |
2 | 170 | 0.0118 | 2558 | c.101 others(2577): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2551): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 322 | 0.0031 | 2558 | c.178 others(2575): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SENP8_chr15_72113403_72148692 | 72136446 | T | TAAGAAGA others(2551): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 400 | 0.0025 | 2558 | c.-47 others(2575): Show |
SENP8 | ENSG00000166192.15 | transcript | ENST00000340912.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SENP8_chr15_72113403_72148692 | 72136446 | T | TAAGAAGA others(2551): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 400 | 0.0025 | 2558 | c.-47 others(2575): Show |
SENP8 | ENSG00000166192.15 | transcript | ENST00000340912.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210024936 | C | CAATCATT others(2551): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0259 | 1 | 358 | 0.0028 | 2558 | c.442 others(2575): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2551): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 452 | 0.0022 | 2558 | c.*28 others(2569): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2551): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 452 | 0.0022 | 2558 | c.*28 others(2569): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2551): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0013 | 2 | 371 | 0.0054 | 2558 | c.-47 others(2569): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2551): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 371 | 0.0027 | 2558 | c.-47 others(2569): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2551): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0208 others(1): Show |
5 | 371 | 0.0135 | 2558 | c.-47 others(2569): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2551): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0333 | 1 | 371 | 0.0027 | 2558 | c.-47 others(2569): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2552): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024 | 1 | 334 | 0.0030 | 2559 | c.147 others(2576): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185061 | T | TCCCCCTT others(2552): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0016 | a0016c0075 | a0016c0075t0002 | a0016c0075t0002g0089 | 1 | 174 | 0.0058 | 2559 | c.193 others(2578): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2552): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 314 | 0.0032 | 2559 | c.-25 others(2576): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2552): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2559 | c.*44 others(2570): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2552): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2559 | c.*44 others(2570): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315665 | C | CTGACCTG others(2552): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 133 | 0.0075 | 2559 | c.351 others(2576): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SENP8_chr15_72113403_72148692 | 72136446 | T | TAAGAAGA others(2552): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 400 | 0.0025 | 2559 | c.-47 others(2576): Show |
SENP8 | ENSG00000166192.15 | transcript | ENST00000340912.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210024936 | C | CAATCATT others(2552): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0350 | 1 | 358 | 0.0028 | 2559 | c.442 others(2576): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2552): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0150 | 1 | 371 | 0.0027 | 2559 | c.-47 others(2570): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2552): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 HG02293.hp2 HG02559.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0004others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0099 a0001c0001t0002g0069 others(14): Show |
17 | 371 | 0.0458 | 2559 | c.-47 others(2570): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(2553): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0203 | 1 | 344 | 0.0029 | 2560 | c.127 others(2577): 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(2553): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0029 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0258 a0001c0001t0001g0287 a0001c0001t0001g0301 others(3): Show |
6 | 344 | 0.0174 | 2560 | c.127 others(2577): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12119179 | G | GCCTGTAG others(2553): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0021 | a0002c0021t0039 | a0002c0021t0039g0231 | 1 | 374 | 0.0027 | 2560 | c.257 others(2577): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2553): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 346 | 0.0029 | 2560 | c.-17 others(2571): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
SYT14_chr1_209933217_210176315 | 210024936 | C | CAATCATT others(2553): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0349 | 1 | 358 | 0.0028 | 2560 | c.442 others(2577): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2553): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 371 | 0.0027 | 2560 | c.-47 others(2571): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2553): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 a0001c0001t0005g0037 a0001c0001t0005g0038 |
3 | 371 | 0.0081 | 2560 | c.-47 others(2571): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2553): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0121 | 1 | 371 | 0.0027 | 2560 | c.-47 others(2571): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2553): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 371 | 0.0027 | 2560 | c.-47 others(2571): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2553): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 126 | 0.0079 | 2560 | c.-28 others(2579): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2554): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0287 | 1 | 334 | 0.0030 | 2561 | c.147 others(2578): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23412446 | T | TAAAAACT others(2554): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 272 | 0.0037 | 2561 | c.140 others(2580): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 10/16 | chr16 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88399747 | C | CAAGAAAG others(2554): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0364 | 1 | 386 | 0.0026 | 2561 | c.-27 others(2582): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2554): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19030.hp2 |
a0001a0002 | a0001c0022a0002c0010 | a0001c0022t0009a0002c0010t0009 | a0001c0022t0009g0114 a0002c0010t0009g0021 |
2 | 168 | 0.0119 | 2561 | c.206 others(2582): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2554): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 421 | 0.0024 | 2561 | c.*14 others(2572): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar |