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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4881): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 266 | 0.0075 | 4888 | c.-34 others(4903): 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(4883): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0156 | 1 | 318 | 0.0031 | 4890 | c.225 others(4907): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(4883): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 334 | 0.0030 | 4890 | c.147 others(4907): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222702 | T | TGCAGTGA others(4883): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 190 | 0.0053 | 4890 | c.719 others(4909): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(4885): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0009 | 4 | 390 | 0.0103 | 4892 | c.109 others(4907): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73802561 | A | AAAGAAAG others(4886): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 212 | 0.0047 | 4893 | c.98- others(4910): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73802561 | A | AAAGAAAG others(4886): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02132.hp1 HG04228.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0009c0009t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0087others(2): Show | 5 | 212 | 0.0236 | 4893 | c.98- others(4910): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73802561 | A | AAAGAAAG others(4886): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 212 | 0.0047 | 4893 | c.98- others(4910): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73802561 | A | AAAGAAAG others(4886): Show |
intron_variant | MODIFIER | HG03654.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 212 | 0.0094 | 4893 | c.98- others(4910): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73802561 | A | AAAGAAAG others(4886): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 212 | 0.0047 | 4893 | c.98- others(4910): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120161 | A | AGGAAACA others(4886): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0326 | 1 | 368 | 0.0027 | 4893 | c.353 others(4910): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73797383 | A | AAAAAAAA others(4887): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0010a0001c0014t0001g0010 | 2 | 212 | 0.0094 | 4894 | c.97+ others(4911): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4887): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0177 | 1 | 251 | 0.0040 | 4894 | c.-45 others(4903): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4888): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0146a0001c0001t0002g0131a0001c0001t0003g0079 | 3 | 337 | 0.0089 | 4895 | c.118 others(4914): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105240373 | T | TGTGGCAC others(4889): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0001 | 1 | 72 | 0.0139 | 4896 | c.694 others(4911): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACATCC others(4889): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 116 | 0.0086 | 4896 | c.207 others(4915): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4889): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0154 | 1 | 251 | 0.0040 | 4896 | c.-45 others(4905): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(4889): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 376 | 0.0027 | 4896 | c.101 others(4913): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4890): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 268 | 0.0037 | 4897 | c.136 others(4914): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4890): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 268 | 0.0037 | 4897 | c.136 others(4914): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73791037 | G | GAGGCTGA others(4890): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 212 | 0.0047 | 4897 | c.97+ others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73798954 | A | ACAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 212 | 0.0047 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73799046 | T | TCGTCTCT others(4890): Show |
intron_variant | MODIFIER | HG02559.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0091 | 2 | 212 | 0.0094 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 212 | 0.0047 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0162 | 2 | 212 | 0.0094 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01346.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0121a0001c0001t0001g0123others(3): Show | 6 | 212 | 0.0283 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0128 | 2 | 212 | 0.0094 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803125 | G | GCGGGCGG others(4890): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 212 | 0.0047 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73804107 | T | TTATTGAA others(4890): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 212 | 0.0047 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73804131 | C | CTCATTTC others(4890): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 212 | 0.0047 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73804819 | G | GAGACTGC others(4890): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 212 | 0.0047 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1065180 | G | GCTGTTGT others(4891): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0224a0001c0001t0005g0296a0001c0001t0009g0032others(1): Show | 4 | 337 | 0.0119 | 4898 | c.118 others(4917): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797971 | G | GGGGTTAA others(4891): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0035 | 1 | 212 | 0.0047 | 4898 | c.97+ others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73800792 | C | CGGGGTGC others(4891): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 212 | 0.0047 | 4898 | c.98- others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4891): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 212 | 0.0047 | 4898 | c.98- others(4913): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 370 | 0.0027 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 370 | 0.0027 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0097 | 2 | 370 | 0.0054 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4892): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 370 | 0.0027 | 4899 | c.891 others(4914): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(4892): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 279 | 0.0036 | 4899 | c.215 others(4916): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4892): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0231 | 1 | 279 | 0.0036 | 4899 | c.215 others(4916): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73787586 | C | CAAAAAAA others(4893): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 212 | 0.0047 | 4900 | c.97+ others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4893): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 266 | 0.0038 | 4900 | c.-34 others(4915): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4894): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 370 | 0.0027 | 4901 | c.891 others(4916): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4894): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 370 | 0.0027 | 4901 | c.891 others(4916): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(4897): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18942.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0236a0001c0001t0001g0261a0001c0002t0002g0231 | 3 | 344 | 0.0087 | 4904 | c.127 others(4921): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4897): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 344 | 0.0029 | 4904 | c.127 others(4921): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240184976 | T | TCCCCTTC others(4897): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0006 | a0006c0072 | a0006c0072t0002 | a0006c0072t0002g0086 | 1 | 174 | 0.0058 | 4904 | c.193 others(4923): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
VCX3A_chrX_6528618_6540118 | 6533470 | T | TCCCTCCC others(4898): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0026 | a0026c0018 | a0026c0018t0013 | a0026c0018t0013g0037 | 1 | 74 | 0.0135 | 4905 | c.*27 others(4914): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 147 | chrX | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4900): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 251 | 0.0040 | 4907 | c.-45 others(4916): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar |