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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4907): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 30 | 0.0333 | 4914 | c.*19 others(4925): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744847 | T | TCCTGGTT others(4907): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0035 | a0001c0035t0096 | a0001c0035t0096g0041 | 1 | 122 | 0.0082 | 4914 | c.655 others(4931): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4913): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 29 | 0.0345 | 4920 | c.109 others(4935): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185867 | C | CATGTGTA others(4914): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0259 | 1 | 285 | 0.0035 | 4921 | c.300 others(4938): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120118 | G | GGGAGAGG others(4914): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0322 | 1 | 326 | 0.0031 | 4921 | c.353 others(4938): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533398 | T | TCCTCTTC others(4916): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0011 | 1 | 35 | 0.0286 | 4923 | c.*34 others(4932): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 219 | chrX | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4919): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0242 | 1 | 23 | 0.0435 | 4926 | c.137 others(4943): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4919): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0186 | 1 | 30 | 0.0333 | 4926 | c.*19 others(4937): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333699 | A | TGAGGATA others(4921): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 299 | 0.0033 | 4928 | c.891 others(4943): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4921): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 | 1 | 225 | 0.0044 | 4928 | c.225 others(4945): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948243 | G | GTGATGGT others(4922): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0071 | 1 | 129 | 0.0078 | 4929 | c.47- others(4946): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(4923): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 225 | 0.0044 | 4930 | c.225 others(4947): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4925): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 55 | 0.0182 | 4932 | c.891 others(4947): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4925): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0167 | 1 | 55 | 0.0182 | 4932 | c.891 others(4947): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4925): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 55 | 0.0182 | 4932 | c.891 others(4947): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(4925): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 259 | 0.0039 | 4932 | c.129 others(4951): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4926): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0169 |
2 | 56 | 0.0357 | 4933 | c.891 others(4948): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4926): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03490.hp2 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0030 others(1): Show |
5 | 59 | 0.0847 | 4933 | c.891 others(4948): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4926): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 55 | 0.0182 | 4933 | c.891 others(4948): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4926): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 55 | 0.0182 | 4933 | c.891 others(4948): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4926): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 55 | 0.0182 | 4933 | c.891 others(4948): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4926): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0054 | a0004c0054t0017 | a0004c0054t0017g0033 | 1 | 34 | 0.0294 | 4933 | c.299 others(4948): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090661 | C | CTCAGCAT others(4926): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 389 | 0.0026 | 4933 | c.232 others(4950): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133095792 | C | CGTAATCC others(4926): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 383 | 0.0026 | 4933 | c.233 others(4950): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4928): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 1 | 271 | 0.0037 | 4935 | c.118 others(4954): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAACATAC others(4928): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 123 | 0.0081 | 4935 | c.163 others(4952): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090814 | A | ATCATAAT others(4928): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 232 | 0.0043 | 4935 | c.232 others(4952): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(4930): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 72 | 0.0139 | 4937 | c.273 others(4954): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(4930): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0141 | 1 | 124 | 0.0081 | 4937 | c.*65 others(4948): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4930): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 4 | 0.5000 | 4937 | c.-34 others(4952): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4930): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 3 | 0.3333 | 4937 | c.-34 others(4952): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(4931): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0275 | 1 | 212 | 0.0047 | 4938 | c.225 others(4955): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4931): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0151 |
2 | 56 | 0.0357 | 4938 | c.891 others(4953): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4931): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 55 | 0.0182 | 4938 | c.891 others(4953): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4931): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 55 | 0.0182 | 4938 | c.891 others(4953): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4931): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 9 | 0.1111 | 4938 | c.642 others(4955): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152217874 | A | AAACCGGA others(4931): Show |
conservative_inframe_insertion | MODERATE | HG02080.hp1 | a0001 | a0001c0154 | a0001c0154t0001 | a0001c0154t0001g0066 | 1 | 99 | 0.0101 | 4938 | c.375 others(4947): Show |
p.Gly others(4953): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3830/9629 | 3754/8553 | 1252/2850 | chr1 | TogoVar | |||
ABR_chr17_998519_1184981 | 1065137 | G | GCTGTTGT others(4932): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0117 a0001c0001t0008g0019 |
2 | 232 | 0.0086 | 4939 | c.118 others(4958): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGTTGGT others(4932): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0024 | a0003c0024t0001 | a0003c0024t0001g0074 | 1 | 88 | 0.0114 | 4939 | c.86- others(4952): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639415 | A | ATGGATGG others(4934): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0096 | 1 | 213 | 0.0047 | 4941 | c.719 others(4958): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4936): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0208 | 1 | 42 | 0.0238 | 4943 | c.139 others(4964): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953287 | A | ACACCCAC others(4937): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0044 | 1 | 251 | 0.0040 | 4944 | c.503 others(4961): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4938): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 3 | 0.3333 | 4945 | c.-34 others(4960): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4938): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0269 |
2 | 14 | 0.1429 | 4945 | c.215 others(4962): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954424 | G | GGGGGAGG others(4938): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0011 | 1 | 107 | 0.0093 | 4945 | c.-28 others(4964): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar |