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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 300 | 0.0033 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0231a0001c0002t0004g0232 | 2 | 300 | 0.0067 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03516.hp2 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0030a0002c0003t0011 | a0001c0002t0006g0110a0001c0004t0030g0095a0002c0003t0011g0035 | 3 | 300 | 0.0100 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0001g0155others(5): Show | 8 | 300 | 0.0267 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0011a0002c0003t0017others(1): Show | a0001c0001t0001g0238a0002c0003t0011g0239a0002c0003t0017g0007others(1): Show | 4 | 300 | 0.0133 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(725): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18747.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0020t0001g0088 | 3 | 322 | 0.0093 | 732 | c.*48 others(743): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0052 | a0001c0052t0118 | a0001c0052t0118g0121 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0033 | a0033c0028 | a0033c0028t0088 | a0033c0028t0088g0008 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0032 | a0001c0032t0103 | a0001c0032t0103g0007 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0017 | a0003c0009t0017g0088 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0009 | a0003c0009t0121 | a0003c0009t0121g0092 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04115.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0092a0004c0006t0065 | a0001c0001t0092g0054a0004c0006t0065g0208 | 2 | 210 | 0.0095 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0031 | a0031c0031 | a0031c0031t0085 | a0031c0031t0085g0108 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0005 | a0002c0005t0070 | a0002c0005t0070g0100 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0057 | a0002c0057t0003 | a0002c0057t0003g0026 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0034 | a0034c0059 | a0034c0059t0001 | a0034c0059t0001g0114 | 1 | 210 | 0.0048 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 433137 | C | CATTCTCC others(725): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 295 | 0.0034 | 732 | c.714 others(749): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114044303 | G | GCCCCCCG others(725): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 67 | 0.0149 | 732 | c.278 others(749): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(725): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 308 | 0.0033 | 732 | c.-8- others(749): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | ||||||
RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(725): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0005a0006c0009t0005 | a0001c0001t0005g0302a0006c0009t0005g0305 | 2 | 308 | 0.0065 | 732 | c.-8- others(749): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(725): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0101a0001c0001t0004g0070 | 2 | 160 | 0.0125 | 732 | c.389 others(753): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77323021 | A | CTAATATA others(725): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0122 | 1 | 160 | 0.0063 | 732 | c.389 others(753): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(725): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 133 | 0.0075 | 732 | c.-39 others(743): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(725): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0029 | a0001c0029t0007 | a0001c0029t0007g0012 | 1 | 118 | 0.0085 | 732 | c.125 others(749): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(725): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0003 | a0003c0004t0001g0294a0003c0004t0002g0033a0003c0004t0003g0005others(1): Show | 8 | 350 | 0.0229 | 732 | c.624 others(747): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620618 | A | ACCCACCA others(725): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 258 | 0.0039 | 732 | c.113 others(751): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1628540 | C | CGGGAAGG others(725): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0321 | 1 | 352 | 0.0028 | 732 | c.299 others(749): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(725): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0032a0001c0002t0002g0270 | 2 | 360 | 0.0056 | 732 | c.*62 others(743): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242825 | T | TTCCCACC others(725): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 396 | 0.0025 | 732 | c.695 others(747): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693636 | A | ACCACCTC others(725): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 732 | c.-31 others(743): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3015 | chr20 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930814 | G | GCCGGGGT others(725): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 466 | 0.0022 | 732 | c.*47 others(743): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4555 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930877 | A | AAGGGTCA others(725): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 2 | 466 | 0.0043 | 732 | c.*47 others(743): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4492 | chr11 | TogoVar | ||||||
TPK1_chr7_144446941_144841053 | 144780558 | T | TATATTAT others(725): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 118 | 0.0085 | 732 | c.44- others(749): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(725): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18950.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0211a0001c0001t0001g0213a0001c0001t0003g0212 | 3 | 338 | 0.0089 | 732 | c.246 others(751): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(725): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0324 | 3 | 338 | 0.0089 | 732 | c.246 others(751): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(725): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 356 | 0.0028 | 732 | c.114 others(749): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(725): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 326 | 0.0031 | 732 | c.483 others(747): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(725): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 322 | 0.0031 | 732 | c.4-1 others(745): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(725): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 322 | 0.0031 | 732 | c.4-1 others(745): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(725): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01934.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0105a0001c0001t0001g0106others(16): Show | 19 | 322 | 0.0590 | 732 | c.4-1 others(745): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(726): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0013 | a0013c0048 | a0013c0048t0021 | a0013c0048t0021g0162 | 1 | 248 | 0.0040 | 733 | c.387 others(752): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0064 | 1 | 278 | 0.0036 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 278 | 0.0072 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG03239.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0057others(1): Show | a0001c0001t0001g0257a0001c0001t0008g0008a0001c0001t0008g0009others(4): Show | 7 | 278 | 0.0252 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0034 | a0001c0001t0006g0049a0001c0001t0034g0047 | 2 | 278 | 0.0072 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03041.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0003a0001c0002t0040 | a0001c0001t0039g0150a0001c0002t0003g0006a0001c0002t0040g0149 | 3 | 278 | 0.0108 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(248): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(79): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0027others(246): Show | 251 | 278 | 0.9029 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0108a0001c0001t0005g0220 | 2 | 278 | 0.0072 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0056 | a0001c0001t0008g0258a0001c0001t0056g0241 | 2 | 278 | 0.0072 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(726): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0146 | 1 | 278 | 0.0036 | 733 | c.908 others(748): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |