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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP35_chr12_123453139_123471936 | 123453160 | A | AAATATAT others(1649): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 186 | 0.0054 | 1656 | c.-50 others(1667): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1649): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 362 | 0.0028 | 1656 | c.266 others(1671): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828742 | G | GGAAAGGA others(1649): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0089 | 1 | 94 | 0.0106 | 1656 | c.79+ others(1673): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACCTGTAA others(1650): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 204 | 0.0049 | 1657 | c.308 others(1674): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACCTGTAA others(1650): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 204 | 0.0049 | 1657 | c.308 others(1674): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACCTGTAA others(1650): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(20): Show |
23 | 204 | 0.1128 | 1657 | c.308 others(1674): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACCTGTAA others(1650): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0008c0008t0002 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0077 others(7): Show |
10 | 204 | 0.0490 | 1657 | c.308 others(1674): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65172153 | A | ACCTGTAA others(1650): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | 204 | 0.0098 | 1657 | c.308 others(1674): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 23/24 | chr5 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374952 | G | GGGAGGGA others(1650): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0114 | 1 | 184 | 0.0054 | 1657 | c.784 others(1672): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
BAIAP2L2_chr22_38079900_38115684 | 38110049 | C | CAGAGACA others(1650): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0017 | 1 | 18 | 0.0556 | 1657 | c.51+ others(1670): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1650): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0138 | 1 | 144 | 0.0069 | 1657 | c.-73 others(1676): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(1650): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0235 | 1 | 250 | 0.0040 | 1657 | c.-10 others(1676): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642763 | C | CTGAGGGT others(1650): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0045 | a0045c0057 | a0045c0057t0001 | a0045c0057t0001g0003 | 1 | 421 | 0.0024 | 1657 | c.*21 others(1668): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2058 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGAGGGG others(1650): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 308 | 0.0033 | 1657 | c.157 others(1674): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1650): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 402 | 0.0025 | 1657 | c.292 others(1676): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1650): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0013 | a0013c0025 | a0013c0025t0002 | a0013c0025t0002g0304 | 1 | 402 | 0.0025 | 1657 | c.292 others(1676): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1650): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 a0001c0001t0002g0311 |
2 | 402 | 0.0050 | 1657 | c.292 others(1676): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1650): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0333 | 1 | 402 | 0.0025 | 1657 | c.292 others(1676): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1650): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0341 | 1 | 402 | 0.0025 | 1657 | c.292 others(1676): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859246 | G | GAGTGGTG others(1650): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 294 | 0.0034 | 1657 | c.153 others(1676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859246 | G | GAGTGGTG others(1650): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 294 | 0.0034 | 1657 | c.153 others(1676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859246 | G | GAGTGGTG others(1650): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 294 | 0.0034 | 1657 | c.153 others(1676): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MEF2A_chr15_99560984_99721488 | 99633765 | A | AGAGGCCA others(1650): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0007 | a0001c0007t0100 | a0001c0007t0100g0044 | 1 | 376 | 0.0027 | 1657 | c.54+ others(1670): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PLA2G6_chr22_38106495_38186830 | 38110049 | C | CAGAGACA others(1650): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 10 | 0.1000 | 1657 | c.*21 others(1668): Show |
PLA2G6 | ENSG00000184381.20 | transcript | ENST00000332509.8 | protein_coding | 1445 | chr22 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1650): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 188 | 0.0053 | 1657 | c.147 others(1674): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1650): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 322 | 0.0031 | 1657 | c.-93 others(1674): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATGC others(1650): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0053 | a0001c0053t0015 | a0001c0053t0015g0013 | 1 | 280 | 0.0036 | 1657 | c.89- others(1670): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 |
2 | 340 | 0.0059 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(178): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(131): Show |
181 | 340 | 0.5324 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 340 | 0.0059 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0098 |
2 | 340 | 0.0059 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0002a0001c0012a0001c0013others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0012t0001others(4): Show | a0001c0002t0001g0180 a0001c0002t0001g0212 a0001c0002t0001g0213 others(14): Show |
23 | 340 | 0.0677 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02080.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 others(16): Show |
22 | 340 | 0.0647 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 NA18948.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 others(9): Show |
15 | 340 | 0.0441 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33186817 | A | ATAAATAA others(1650): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(66): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0014t0002 | a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0043 others(29): Show |
69 | 340 | 0.2029 | 1657 | c.-53 others(1668): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4775 | chr1 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870175 | C | CACACACA others(1650): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 338 | 0.0030 | 1657 | c.*35 others(1676): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113412746 | G | GGAGCTCG others(1651): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0045 | a0045c0037 | a0045c0037t0034 | a0045c0037t0034g0073 | 1 | 262 | 0.0038 | 1658 | c.106 others(1677): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(1651): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 300 | 0.0033 | 1658 | c.654 others(1677): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(1651): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 300 | 0.0033 | 1658 | c.654 others(1677): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1651): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 | 1 | 298 | 0.0034 | 1658 | c.126 others(1675): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1651): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 125 | 0.0080 | 1658 | c.219 others(1677): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355462 | A | AAAGGAGG others(1651): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 82 | 0.0122 | 1658 | c.758 others(1673): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586502 | G | GGGGGGAA others(1651): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0006 | a0004c0006t0021 | a0004c0006t0021g0177 | 1 | 308 | 0.0033 | 1658 | c.157 others(1675): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1651): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0049 | a0001c0049t0071 | a0001c0049t0071g0075 | 1 | 226 | 0.0044 | 1658 | c.576 others(1677): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859405 | G | GGGGTGTG others(1651): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 294 | 0.0034 | 1658 | c.153 others(1677): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1651): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0068 | 1 | 294 | 0.0034 | 1658 | c.153 others(1677): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MEF2A_chr15_99560984_99721488 | 99633765 | A | AGAGGCCA others(1651): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 376 | 0.0027 | 1658 | c.54+ others(1671): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1651): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0007 | 1 | 304 | 0.0033 | 1658 | c.347 others(1673): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1651): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0081 | 1 | 134 | 0.0075 | 1658 | c.-28 others(1677): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1651): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0022 | 1 | 94 | 0.0106 | 1658 | c.79+ others(1675): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar |