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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(639): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0288 | 1 | 337 | 0.0030 | 646 | c.61+ others(661): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173303 | T | TCCACCCC others(639): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0314 | 1 | 337 | 0.0030 | 646 | c.61+ others(661): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69100947 | A | AAGGAGAG others(639): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 120 | 0.0083 | 646 | c.248 others(667): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415410 | T | TGGGAGGC others(639): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0211 | 1 | 268 | 0.0037 | 646 | c.441 others(663): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(639): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0087 | 1 | 462 | 0.0022 | 646 | c.564 others(661): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01069.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 others(3): Show |
6 | 350 | 0.0171 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 350 | 0.0029 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 350 | 0.0029 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0132 a0001c0010t0002g0141 |
2 | 350 | 0.0057 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 350 | 0.0029 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(639): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 350 | 0.0029 | 646 | c.135 others(663): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431622 | C | CGGGTATC others(639): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0158 a0001c0001t0004g0114 |
2 | 286 | 0.0070 | 646 | c.539 others(659): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279069 | A | AGGGCGGG others(639): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 410 | 0.0024 | 646 | c.465 others(661): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(639): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 284 | 0.0035 | 646 | c.712 others(663): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(639): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02135.hp1 NA18995.hp1 |
a0001 | a0001c0001a0001c0040 | a0001c0001t0001a0001c0001t0008a0001c0040t0008 | a0001c0001t0001g0128 a0001c0001t0008g0178 a0001c0040t0008g0191 |
3 | 284 | 0.0106 | 646 | c.712 others(663): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(639): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0221 | 1 | 284 | 0.0035 | 646 | c.411 others(663): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(639): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 256 | 0.0039 | 646 | c.-45 others(667): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(639): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 264 | 0.0038 | 646 | c.181 others(665): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(639): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0006 | 1 | 264 | 0.0038 | 646 | c.181 others(665): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(639): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 94 | 0.0106 | 646 | c.-2+ others(663): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(639): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 94 | 0.0106 | 646 | c.-2+ others(663): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(639): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0301 | 1 | 348 | 0.0029 | 646 | c.928 others(661): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3324547 | G | GTCACTGT others(639): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0007a0001c0040a0001c0061others(13): Show | a0001c0007t0001a0001c0007t0032a0001c0040t0019others(14): Show | a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0040t0019g0123 others(14): Show |
17 | 126 | 0.1349 | 646 | c.363 others(667): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 23/69 | chr8 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(639): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 216 | 0.0046 | 646 | c.923 others(665): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(639): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 216 | 0.0046 | 646 | c.923 others(665): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875284 | C | CCCACCCC others(639): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0044 | a0003c0044t0001 | a0003c0044t0001g0244 | 1 | 320 | 0.0031 | 646 | c.*39 others(657): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 321947 | C | CTGTTAGA others(639): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 88 | 0.0114 | 646 | c.392 others(665): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417900 | G | GGATAGGC others(639): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 88 | 0.0114 | 646 | c.739 others(663): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417979 | T | TAGGCCTC others(639): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 88 | 0.0114 | 646 | c.739 others(663): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634556 | T | TCCTTTCC others(639): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 250 | 0.0040 | 646 | c.105 others(663): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(639): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02886.hp1 HG03540.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0001a0001c0001t0005a0001c0002t0011others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0240 a0001c0001t0005g0052 others(2): Show |
5 | 248 | 0.0202 | 646 | c.62- others(663): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(639): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 others(61): Show |
64 | 248 | 0.2581 | 646 | c.62- others(663): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(639): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0034 others(25): Show |
28 | 272 | 0.1029 | 646 | c.238 others(667): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519116 | A | AAACCACC others(639): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 272 | 0.0037 | 646 | c.238 others(667): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(639): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 468 | 0.0021 | 646 | c.*10 others(657): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218331 | A | ACCCAACA others(639): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 646 | c.*28 others(657): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1162 | chr8 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073899 | T | TTATATAT others(639): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 208 | 0.0048 | 646 | c.-97 others(663): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623303 | A | ATGAGGGT others(639): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0048 | 1 | 400 | 0.0025 | 646 | c.-22 others(657): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2176 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(639): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 312 | 0.0032 | 646 | c.-41 others(661): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(639): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0006 | a0006c0066 | a0006c0066t0001 | a0006c0066t0001g0067 | 1 | 88 | 0.0114 | 646 | c.507 others(665): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(639): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0082 | 1 | 186 | 0.0054 | 646 | c.450 others(663): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 903578 | C | CGTCTCTG others(639): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG02145.hp1 others(5): Show |
a0001a0005a0023 | a0001c0001a0001c0003a0005c0029others(1): Show | a0001c0001t0001a0001c0003t0001a0005c0029t0003others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0171 others(5): Show |
8 | 294 | 0.0272 | 646 | c.663 others(663): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(639): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 290 | 0.0035 | 646 | c.129 others(665): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACGCTT others(639): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0252 | 1 | 290 | 0.0035 | 646 | c.129 others(663): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186153 | G | GGAGGAAC others(639): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 350 | 0.0029 | 646 | c.*30 others(657): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2836 | chr16 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274865 | C | CTCCCAAC others(639): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 428 | 0.0023 | 646 | c.-45 others(657): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4486 | chr22 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061806 | T | TATATAAT others(639): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 288 | 0.0035 | 646 | c.-32 others(657): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3131 | chr19 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATA others(639): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 191 | 0.0052 | 646 | c.343 others(663): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(639): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 288 | 0.0035 | 646 | c.483 others(661): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(639): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01069.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0013 a0002c0002t0001g0261 a0002c0002t0001g0268 others(31): Show |
35 | 288 | 0.1215 | 646 | c.483 others(661): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |