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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(455): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0065 | 1 | 364 | 0.0028 | 462 | c.394 others(477): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(455): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 230 | 0.0044 | 462 | c.163 others(479): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843566 | G | GAGGAAGG others(455): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0022 |
2 | 230 | 0.0087 | 462 | c.163 others(479): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843590 | A | AAGGGAGG others(455): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 230 | 0.0044 | 462 | c.163 others(479): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(455): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0009 | a0009c0064 | a0009c0064t0036 | a0009c0064t0036g0115 | 1 | 234 | 0.0043 | 462 | c.816 others(477): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCGCAC others(455): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0353 | 1 | 366 | 0.0027 | 462 | c.-16 others(483): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(455): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp1 NA18939.hp1 NA19007.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0180 a0001c0001t0013g0190 a0001c0001t0013g0191 others(2): Show |
5 | 366 | 0.0137 | 462 | c.*47 others(471): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(455): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0128 | 1 | 366 | 0.0027 | 462 | c.*47 others(471): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(455): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0046a0001c0001t0047others(1): Show | a0001c0001t0005g0048 a0001c0001t0005g0158 a0001c0001t0005g0160 others(12): Show |
15 | 366 | 0.0410 | 462 | c.*47 others(471): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(455): Show |
3_prime_UTR_variant | MODIFIER | NA18983.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0265 a0001c0001t0048g0266 |
2 | 366 | 0.0055 | 462 | c.*47 others(471): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(455): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp1 HG02897.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0159 | a0001c0001t0016g0009 a0001c0001t0016g0260 a0001c0001t0016g0281 others(3): Show |
6 | 366 | 0.0164 | 462 | c.*47 others(471): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(455): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0189 | 1 | 362 | 0.0028 | 462 | c.-75 others(481): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(455): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0021 | 1 | 362 | 0.0028 | 462 | c.-75 others(481): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGCC others(455): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 462 | c.*26 others(473): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397703 | G | GGGGGGGT others(455): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0233 | 1 | 356 | 0.0028 | 462 | c.91+ others(475): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGAGG others(455): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 a0001c0001t0003g0296 |
2 | 324 | 0.0062 | 462 | c.140 others(479): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841420 | C | CGCATCTC others(455): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 242 | 0.0041 | 462 | c.361 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCACCCT others(455): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0067 |
2 | 242 | 0.0083 | 462 | c.361 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841508 | C | CCCGCGAG others(455): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 242 | 0.0041 | 462 | c.361 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(455): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 242 | 0.0041 | 462 | c.361 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841628 | A | AAGCAGGT others(455): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0237 | 1 | 242 | 0.0041 | 462 | c.361 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948914 | C | CCCCCTGC others(455): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 242 | 0.0041 | 462 | c.360 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082572 | T | TCCTCCTC others(455): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0058 | 1 | 68 | 0.0147 | 462 | c.62- others(481): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237641 | A | ATACTATA others(455): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0002g0230 |
2 | 439 | 0.0046 | 462 | c.-17 others(473): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1644 | chr14 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3198013 | G | GGGAGAAG others(455): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03130.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0171 a0001c0007t0002g0183 |
2 | 328 | 0.0061 | 462 | c.-12 others(479): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3680147 | G | GTCCTCCA others(455): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 362 | 0.0028 | 462 | c.106 others(479): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45923820 | C | CGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923952 | C | CGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923952 | C | CGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924150 | C | CGAGGAGA others(455): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924167 | T | TGGGAACA others(455): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924216 | C | CGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 others(5): Show |
8 | 292 | 0.0274 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924282 | T | TGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924292 | C | CGAACACC others(455): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0033 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924348 | T | TGAGGAGA others(455): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924424 | C | CGAACACC others(455): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924490 | C | CGAACACT others(455): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924575 | A | AGTGGATA others(455): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924576 | G | GTGGATAG others(455): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924688 | C | CGAACACC others(455): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | 292 | 0.0069 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924707 | A | AGTGGATA others(455): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924707 | A | AGTGGGTA others(455): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01516.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 others(1): Show |
4 | 292 | 0.0137 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924820 | C | CAAACACT others(455): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924910 | G | GTAGAAAC others(455): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924910 | G | GTAGAAAC others(455): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 |
3 | 292 | 0.0103 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925108 | G | GTAGAAAC others(455): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925140 | T | TGAGGAGA others(455): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 292 | 0.0034 | 462 | c.718 others(479): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(455): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 | 1 | 115 | 0.0087 | 462 | c.305 others(483): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525239 | A | AGGGGGGA others(455): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 115 | 0.0087 | 462 | c.305 others(483): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 725678 | C | CGCTGTGG others(455): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0039 a0002c0002t0003g0048 |
2 | 366 | 0.0055 | 462 | c.-18 others(481): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |