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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
WDR87_chr19_37879823_37911594 | 37881138 | T | TAATATAT others(207): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 214 | c.*37 others(225): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | |||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(207): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0317 | 1 | 394 | 0.0025 | 214 | c.39+ others(229): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(207): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 others(1): Show |
4 | 394 | 0.0102 | 214 | c.39+ others(229): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(207): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0012a0004c0004t0002 | a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0346 others(8): Show |
12 | 394 | 0.0305 | 214 | c.39+ others(229): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
ZC3H12B_chrX_65029826_65512887 | 65450480 | T | TATATGTA others(207): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0148 others(6): Show |
9 | 165 | 0.0546 | 214 | c.-15 others(235): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZFYVE1_chr14_72964451_73032106 | 73023251 | T | TTATATGT others(207): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0093 | 1 | 374 | 0.0027 | 214 | c.483 others(229): Show |
ZFYVE1 | ENSG00000165861.14 | transcript | ENST00000556143.6 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62369791 | T | TATATATG others(207): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0070 | 1 | 350 | 0.0029 | 214 | c.-46 others(225): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 4577 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370987 | C | CACATATG others(207): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02148.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0157 |
3 | 350 | 0.0086 | 214 | c.-34 others(225): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3381 | chr10 | TogoVar | |||||||
ZNF430_chr19_21015657_21065050 | 21019589 | T | TATATATA others(207): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0104 | 1 | 298 | 0.0034 | 214 | c.-12 others(225): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 1067 | chr19 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63970825 | C | CCTTCCTT others(207): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0150 | 1 | 356 | 0.0028 | 214 | c.-10 others(225): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 896 | chr20 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319177 | T | TACATATA others(207): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 460 | 0.0022 | 214 | c.-16 others(225): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1294 | chr19 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319265 | T | TACATATA others(207): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0145 | 1 | 460 | 0.0022 | 214 | c.-15 others(225): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1206 | chr19 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(207): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 460 | 0.0022 | 214 | c.-13 others(225): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(207): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 460 | 0.0022 | 214 | c.-13 others(225): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | |||||||
ZNF573_chr19_37733302_37784586 | 37751663 | C | CATGTATA others(207): Show |
intron_variant | MODIFIER | HG02080.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0068 |
2 | 350 | 0.0057 | 214 | c.296 others(233): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56302522 | C | CTCCCTCT others(207): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 362 | 0.0028 | 214 | c.-12 others(235): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958591 | A | ATATAATT others(208): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 274 | 0.0037 | 215 | c.-35 others(226): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3200 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062242 | T | TGTGAACT others(208): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0022 a0001c0001t0015g0262 |
2 | 337 | 0.0059 | 215 | c.118 others(234): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131129451 | G | GCCCGCCC others(208): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0025a0002c0034others(2): Show | a0001c0003t0036a0001c0025t0021a0002c0034t0030others(2): Show | a0001c0003t0036g0209 a0001c0025t0021g0119 a0002c0034t0030g0231 others(2): Show |
5 | 242 | 0.0207 | 215 | c.217 others(234): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131129451 | G | GCCCGCCC others(208): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(7): Show | a0001c0001t0002a0001c0003t0029a0001c0010t0007others(7): Show | a0001c0001t0002g0116 a0001c0003t0029g0214 a0001c0010t0007g0160 others(10): Show |
13 | 242 | 0.0537 | 215 | c.217 others(234): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131129451 | G | GCCCGCCC others(208): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0042 | a0002c0042t0022 | a0002c0042t0022g0096 | 1 | 242 | 0.0041 | 215 | c.217 others(234): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4224714 | T | TGTTCCAT others(208): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18612.hp2 NA18747.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001 | a0001c0001t0001g0188 a0001c0001t0001g0236 a0002c0002t0001g0269 others(1): Show |
4 | 452 | 0.0089 | 215 | c.111 others(234): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461540 | G | GGAGTCTG others(208): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02258.hp1 HG03130.hp2 others(1): Show |
a0002 | a0002c0010 | a0002c0010t0001a0002c0010t0002 | a0002c0010t0001g0225 a0002c0010t0002g0226 a0002c0010t0002g0227 others(1): Show |
4 | 342 | 0.0117 | 215 | c.578 others(228): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATT others(208): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 288 | 0.0035 | 215 | c.70- others(232): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241187727 | C | CAGGAGGA others(208): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0139 | 1 | 396 | 0.0025 | 215 | c.-10 others(226): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 949 | chr2 | TogoVar | |||||||
APOA4_chr11_116815700_116828304 | 116818426 | A | ATATATAT others(208): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 NA18983.hp2 NA19076.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0007 a0001c0005t0001g0006 |
3 | 462 | 0.0065 | 215 | c.*24 others(226): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2273 | chr11 | TogoVar | |||||||
APOA4_chr11_116815700_116828304 | 116818483 | T | TATATATG others(208): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 NA18977.hp2 NA18978.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0006 | 6 | 462 | 0.0130 | 215 | c.*23 others(226): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2216 | chr11 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(208): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 342 | 0.0029 | 215 | c.*62 others(226): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(208): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0001 | 1 | 342 | 0.0029 | 215 | c.*62 others(226): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(208): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 342 | 0.0029 | 215 | c.*62 others(226): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CCGTGACC others(208): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02293.hp1 NA18984.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0056 others(1): Show |
4 | 246 | 0.0163 | 215 | c.-21 others(226): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285902 | T | TCCCAACC others(208): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 442 | 0.0023 | 215 | c.*30 others(226): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2893 | chr16 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285983 | T | TCCCAACC others(208): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 442 | 0.0023 | 215 | c.*31 others(226): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2974 | chr16 | TogoVar | |||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(208): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 264 | 0.0038 | 215 | c.102 others(232): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(208): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 264 | 0.0038 | 215 | c.102 others(232): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757980 | C | CCGACCAC others(208): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0053 | a0053c0031 | a0053c0031t0001 | a0053c0031t0001g0108 | 1 | 300 | 0.0033 | 215 | c.655 others(234): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285902 | T | TCCCAACC others(208): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0016 | a0001c0016t0008 | a0001c0016t0008g0041 | 1 | 378 | 0.0027 | 215 | c.*22 others(226): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1537 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285983 | T | TCCCAACC others(208): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0272 | 1 | 378 | 0.0027 | 215 | c.*21 others(226): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285983 | T | TCCCAACC others(208): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0214 | 1 | 378 | 0.0027 | 215 | c.*21 others(226): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83032173 | A | ACTCGGGA others(208): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01261.hp1 others(9): Show |
a0001 | a0001c0001a0001c0011a0001c0013others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0011t0001others(5): Show | a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 others(8): Show |
12 | 266 | 0.0451 | 215 | c.297 others(232): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(208): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0084 | 1 | 298 | 0.0034 | 215 | c.51+ others(228): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(208): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 298 | 0.0034 | 215 | c.51+ others(228): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425980 | G | GAGGGGGA others(208): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 276 | 0.0036 | 215 | c.490 others(234): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(208): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 330 | 0.0030 | 215 | c.431 others(232): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(208): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01123.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0252 others(4): Show |
7 | 330 | 0.0212 | 215 | c.431 others(232): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(208): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0186 | 1 | 330 | 0.0030 | 215 | c.431 others(232): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61680478 | A | ATATATAA others(208): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03942.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0354 a0001c0001t0004g0364 a0001c0001t0004g0366 |
3 | 374 | 0.0080 | 215 | c.165 others(230): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTC others(208): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0055 | a0001c0055t0004 | a0001c0055t0004g0083 | 1 | 218 | 0.0046 | 215 | c.573 others(234): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2105605 | T | TGGGCGTC others(208): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0101 | 1 | 104 | 0.0096 | 215 | c.50- others(230): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544797 | T | TCTCCCCC others(208): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 410 | 0.0024 | 215 | c.-22 others(232): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |