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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXJ3_chr1_42171548_42340235 | 42222046 | G | GAGAAGGA others(290): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 127 | 0.0079 | 297 | c.528 others(314): Show |
FOXJ3 | ENSG00000198815.9 | transcript | ENST00000361346.6 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362214 | C | CACCTCCA others(290): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 216 | 0.0046 | 297 | c.544 others(316): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(290): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 | 1 | 11 | 0.0909 | 297 | c.-16 others(318): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926877 | C | CCTCCCCG others(290): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0090 | 1 | 332 | 0.0030 | 297 | c.145 others(314): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697099 | A | AGGGACAG others(290): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0189 | 1 | 320 | 0.0031 | 297 | c.121 others(316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21697133 | A | AGGGGACA others(290): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 320 | 0.0031 | 297 | c.121 others(316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GRHL3_chr1_24314357_24360318 | 24345043 | C | CCTCCACA others(290): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 2 | 0.5000 | 297 | c.145 others(314): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322504 | A | AAAAAAAA others(290): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0075 | 1 | 152 | 0.0066 | 297 | c.-37 others(308): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3709 | chrX | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 107022930 | T | TAAAATCA others(290): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0017 | a0001c0003t0003g0232 a0001c0003t0017g0231 |
2 | 226 | 0.0088 | 297 | c.-48 others(308): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4455 | chr11 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186153 | G | GGGAACAG others(290): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 256 | 0.0039 | 297 | c.*50 others(308): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4975 | chr16 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544858 | C | CCACCACC others(290): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0016 | a0016c0017 | a0016c0017t0052 | a0016c0017t0052g0034 | 1 | 127 | 0.0079 | 297 | c.520 others(318): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544858 | C | CCACCACC others(290): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 NA18522.hp1 |
a0001a0006 | a0001c0011a0001c0044a0006c0012 | a0001c0011t0021a0001c0044t0024a0006c0012t0010 | a0001c0011t0021g0040 a0001c0044t0024g0042 a0006c0012t0010g0036 |
3 | 129 | 0.0233 | 297 | c.520 others(318): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544964 | C | CATCACCA others(290): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0007 | a0007c0008 | a0007c0008t0007 | a0007c0008t0007g0067 | 1 | 119 | 0.0084 | 297 | c.520 others(318): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13533514 | T | TGAAGTTA others(290): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 HG02735.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0020a0001c0001t0026others(3): Show | a0001c0001t0002g0105 a0001c0001t0020g0066 a0001c0001t0026g0069 others(4): Show |
7 | 262 | 0.0267 | 297 | c.600 others(316): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152654 | C | CACCACCA others(290): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 52 | 0.0192 | 297 | c.804 others(314): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015381 | T | TCTGAGCC others(290): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 271 | 0.0037 | 297 | c.*41 others(308): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3528 | chr10 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352768 | T | TATAATAT others(290): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 4 | 0.2500 | 297 | c.-36 others(308): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3027 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352768 | T | TATAATAT others(290): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0023a0001c0002t0024others(1): Show | a0001c0002t0004g0001 a0001c0002t0004g0011 a0001c0002t0004g0099 others(5): Show |
13 | 16 | 0.8125 | 297 | c.-36 others(308): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 3027 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352768 | T | TATAATAT others(290): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG01943.hp2 others(9): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(6): Show |
12 | 13 | 0.9231 | 297 | c.*84 others(306): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 732 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(290): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03017.hp2 |
a0001a0002 | a0001c0037a0002c0001 | a0001c0037t0011a0002c0001t0001 | a0001c0037t0011g0196 a0002c0001t0001g0197 |
2 | 254 | 0.0079 | 297 | c.623 others(314): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(290): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 |
a0007a0016 | a0007c0021a0016c0057 | a0007c0021t0004a0016c0057t0015 | a0007c0021t0004g0259 a0016c0057t0015g0274 |
2 | 254 | 0.0079 | 297 | c.623 others(314): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1990807 | G | GGGGCCTT others(290): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0008 | a0008c0010 | a0008c0010t0007 | a0008c0010t0007g0162 | 1 | 248 | 0.0040 | 297 | c.-90 others(316): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1990811 | C | CCTTGGCG others(290): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0062 | 1 | 360 | 0.0028 | 297 | c.-90 others(316): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1991038 | C | CGGGCCTT others(290): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02572.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0120 a0001c0001t0014g0121 a0001c0001t0014g0122 |
3 | 84 | 0.0357 | 297 | c.-90 others(316): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94608481 | A | ATTATATA others(290): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0030 | 1 | 53 | 0.0189 | 297 | c.-15 others(318): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122439505 | C | CAAAAGAG others(290): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19012.hp2 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0322 a0001c0001t0003g0342 a0001c0001t0013g0361 |
3 | 356 | 0.0084 | 297 | c.997 others(314): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(290): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 77 | 0.0130 | 297 | c.-27 others(308): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(290): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 78 | 0.0256 | 297 | c.-27 others(308): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGCGGTG others(290): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0091 | a0091c0098 | a0091c0098t0001 | a0091c0098t0001g0117 | 1 | 136 | 0.0074 | 297 | c.956 others(314): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGTGGGG others(290): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0137 | 1 | 136 | 0.0074 | 297 | c.956 others(314): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGTGGGG others(290): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02165.hp1 NA19066.hp2 |
a0001a0004 | a0001c0010a0004c0004a0004c0090 | a0001c0010t0001a0004c0004t0001a0004c0090t0001 | a0001c0010t0001g0118 a0004c0004t0001g0103 a0004c0090t0001g0096 |
3 | 138 | 0.0217 | 297 | c.956 others(314): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGTGGGG others(290): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0060 | a0060c0087 | a0060c0087t0001 | a0060c0087t0001g0099 | 1 | 136 | 0.0074 | 297 | c.956 others(314): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(290): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 NA18943.hp1 |
a0001a0030a0048 | a0001c0005a0030c0106a0048c0111 | a0001c0005t0001a0030c0106t0001a0048c0111t0001 | a0001c0005t0001g0120 a0030c0106t0001g0102 a0048c0111t0001g0136 |
3 | 148 | 0.0203 | 297 | c.956 others(314): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610354 | T | TGCGGGTG others(290): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 250 | 0.0040 | 297 | c.717 others(314): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAGI1_chr3_65348526_66043918 | 65947943 | T | TTTTTTTT others(290): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 |
2 | 104 | 0.0192 | 297 | c.313 others(316): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19497366 | C | CAAGAAGC others(290): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp1 others(30): Show |
a0005a0009a0012others(24): Show | a0005c0019a0005c0103a0009c0040others(29): Show | a0005c0019t0002a0005c0103t0002a0009c0040t0002others(29): Show | a0005c0019t0002g0081 a0005c0103t0002g0077 a0009c0040t0002g0067 others(30): Show |
33 | 130 | 0.2538 | 297 | c.515 others(316): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 30/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19497366 | C | CAAGAAGC others(290): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01081.hp1 others(16): Show |
a0007a0008a0013others(9): Show | a0007c0008a0007c0059a0008c0006others(11): Show | a0007c0008t0001a0007c0059t0001a0008c0006t0001others(13): Show | a0007c0008t0001g0130 a0007c0008t0001g0131 a0007c0059t0001g0041 others(16): Show |
19 | 116 | 0.1638 | 297 | c.515 others(316): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 30/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43764067 | T | TTGACTGT others(290): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 232 | 0.0043 | 297 | c.*33 others(308): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 2542 | chrX | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894652 | C | CATATATA others(290): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 5 | 0.2000 | 297 | c.-38 others(316): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876811 | G | GGGAGGTT others(290): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0006 | a0006c0027 | a0006c0027t0002 | a0006c0027t0002g0077 | 1 | 233 | 0.0043 | 297 | c.224 others(316): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876881 | T | TAGGGAAG others(290): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0127 | 1 | 244 | 0.0041 | 297 | c.224 others(316): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877117 | G | GGGAGGTT others(290): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0192 | 1 | 247 | 0.0040 | 297 | c.224 others(316): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(290): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 145 | 0.0069 | 297 | c.224 others(316): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(290): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 145 | 0.0069 | 297 | c.224 others(316): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79439351 | G | GGTGGGAT others(290): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0010 | a0001c0006t0008g0026 a0001c0006t0008g0235 a0001c0006t0010g0212 others(1): Show |
5 | 312 | 0.0160 | 297 | c.-51 others(314): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544349 | T | TGGGGGGA others(290): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0044 | a0002c0044t0001 | a0002c0044t0001g0080 | 1 | 228 | 0.0044 | 297 | c.153 others(316): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544349 | T | TGGGGGGA others(290): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 228 | 0.0044 | 297 | c.153 others(316): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544422 | G | GACAGTGG others(290): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0043 | a0002c0043t0001 | a0002c0043t0001g0064 | 1 | 270 | 0.0037 | 297 | c.153 others(316): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43499998 | G | GTGGTGAT others(290): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0015 | 1 | 233 | 0.0043 | 297 | c.748 others(314): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500229 | G | GTGGTGAT others(290): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 98 | 0.0102 | 297 | c.748 others(314): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |