| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MBP_chr18_76973833_77137783 | 77118010 | T | TGGGATGG others(550): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 396 | 0.0025 | 557 | c.-25 others(576): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
| MBP_chr18_76973833_77137783 | 77118010 | T | TGGGATGG others(550): Show |
intron_variant | MODIFIER | HG02273.hp2 NA19005.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0094a0001c0001t0003g0101a0001c0001t0004g0091 | 3 | 396 | 0.0076 | 557 | c.-25 others(576): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
| MBP_chr18_76973833_77137783 | 77118010 | T | TGGGATGG others(550): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01975.hp1 HG02015.hp2 others(11): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0109others(11): Show | 14 | 396 | 0.0354 | 557 | c.-25 others(576): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
| MBP_chr18_76973833_77137783 | 77118010 | T | TGGGATGG others(550): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 396 | 0.0025 | 557 | c.-25 others(576): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877333 | T | TGGAGGTT others(550): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0232 | 1 | 274 | 0.0037 | 557 | c.224 others(576): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG01515.hp2 NA19064.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070a0001c0001t0001g0184a0001c0001t0003g0183 | 3 | 256 | 0.0117 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(550): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 256 | 0.0039 | 557 | c.241 others(576): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(550): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0045 | a0003c0003t0045g0357 | 1 | 384 | 0.0026 | 557 | c.160 others(574): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(550): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0106 | 1 | 170 | 0.0059 | 557 | c.166 others(576): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158667579 | C | CCTTACCC others(550): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 378 | 0.0027 | 557 | c.148 others(576): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397726 | C | CGGGGGGT others(550): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 356 | 0.0028 | 557 | c.91+ others(570): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCGT others(550): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0296 | 1 | 326 | 0.0031 | 557 | c.433 others(574): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0241 | 1 | 386 | 0.0026 | 557 | c.*92 others(568): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 386 | 0.0026 | 557 | c.*92 others(568): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 386 | 0.0026 | 557 | c.*92 others(568): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NUP62CL_chrX_107118427_107211433 | 107180829 | T | TAGAAATG others(550): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 280 | 0.0036 | 557 | c.-47 others(574): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(550): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 400 | 0.0025 | 557 | c.*70 others(568): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCA others(550): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 292 | 0.0034 | 557 | c.471 others(572): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PPP3CA_chr4_101018418_101352526 | 101164091 | T | TCGCACCT others(550): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 192 | 0.0052 | 557 | c.259 others(576): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| PRKX_chrX_3599340_3718649 | 3639394 | G | GGGGGGGT others(550): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0181 | 1 | 227 | 0.0044 | 557 | c.719 others(574): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(550): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 374 | 0.0054 | 557 | c.-46 others(568): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 504249 | T | TCCTCCTG others(550): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0129 | 1 | 295 | 0.0034 | 557 | c.139 others(576): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114099914 | A | ACAGCCCC others(550): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 | 1 | 67 | 0.0149 | 557 | c.56- others(574): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(550): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0235 | 1 | 292 | 0.0034 | 557 | c.261 others(574): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(550): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0136 | 1 | 150 | 0.0067 | 557 | c.77- others(574): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(550): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 1 | 158 | 0.0063 | 557 | c.22+ others(574): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(550): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0336 | 1 | 352 | 0.0028 | 557 | c.-12 others(568): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | ||||||
| SMAD2_chr18_47803957_47935659 | 47850538 | T | TTATATAT others(550): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0112 | 1 | 310 | 0.0032 | 557 | c.784 others(572): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(550): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 340 | 0.0029 | 557 | c.*17 others(576): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATACTTA others(550): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 144 | 0.0069 | 557 | c.190 others(576): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0166 | 1 | 256 | 0.0039 | 557 | c.*22 others(568): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 256 | 0.0039 | 557 | c.*22 others(568): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | ||||||
| STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0031 | a0003c0031t0001 | a0003c0031t0001g0162 | 1 | 256 | 0.0039 | 557 | c.*22 others(568): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | ||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(550): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0066 | a0001c0001t0015g0093a0001c0001t0015g0230a0001c0001t0015g0231others(2): Show | 5 | 322 | 0.0155 | 557 | c.597 others(574): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(550): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 322 | 0.0031 | 557 | c.597 others(574): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(550): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 258 | 0.0039 | 557 | c.113 others(576): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TECTA_chr11_121096243_121196490 | 121185949 | T | TTAATGAG others(550): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0042 | 1 | 348 | 0.0029 | 557 | c.600 others(576): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | chr11 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188152145 | A | AGAAGGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 228 | 0.0044 | 557 | c.*47 others(568): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4403 | chr4 | TogoVar | ||||||
| TUBGCP5_chr15_22994177_23044569 | 23041837 | G | GGAGGTGC others(550): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG02015.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0008a0001c0002t0002g0009others(16): Show | 20 | 351 | 0.0570 | 557 | c.-22 others(568): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 2269 | chr15 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466755 | G | GGGGAGGG others(550): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02809.hp1 |
a0012a0043 | a0012c0012a0043c0048 | a0012c0012t0003a0043c0048t0003 | a0012c0012t0003g0010a0043c0048t0003g0010 | 2 | 271 | 0.0074 | 557 | c.*37 others(566): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 246 | chrX | TogoVar | ||||||
| VWA2_chr10_114234254_114299489 | 114253228 | C | CTCCCCTC others(550): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0144 | 1 | 246 | 0.0041 | 557 | c.53- others(570): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(550): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 246 | 0.0041 | 557 | c.-10 others(574): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ZNF365_chr10_62369369_62407450 | 62370997 | A | ATATATAT others(550): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 350 | 0.0029 | 557 | c.-34 others(568): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48443861 | T | TCCTCTTT others(551): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG02897.hp1 |
a0024a0069 | a0024c0027a0069c0066 | a0024c0027t0001a0024c0027t0006a0069c0066t0001 | a0024c0027t0001g0161a0024c0027t0006g0162a0069c0066t0001g0143 | 3 | 178 | 0.0169 | 558 | c.125 others(581): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |