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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MINDY2_chr15_58766302_58866900 | 58852287 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0002 | 1 | 384 | 0.0026 | 15 | c.173 others(32): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINDY2_chr15_58766302_58866900 | 58863019 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG03139.hp2 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0027others(1): Show | a0001c0001t0002g0205 a0001c0001t0002g0330 a0001c0001t0002g0345 others(3): Show |
6 | 384 | 0.0156 | 15 | c.*84 others(26): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 1120 | chr15 | TogoVar | |||||||
MINDY3_chr10_15773174_15865507 | 15848633 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 242 | 0.0041 | 15 | c.95- others(28): Show |
MINDY3 | ENSG00000148481.14 | transcript | ENST00000277632.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
MINDY3_chr10_15773174_15865507 | 15853465 | A | AGCTGTCC others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 a0001c0001t0002g0097 |
2 | 242 | 0.0083 | 15 | c.95- others(30): Show |
MINDY3 | ENSG00000148481.14 | transcript | ENST00000277632.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
MINK1_chr17_4828340_4903061 | 4853352 | A | AAGAGTGT others(8): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 | 1 | 360 | 0.0028 | 15 | c.57+ others(32): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MINK1_chr17_4828340_4903061 | 4867074 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0020others(7): Show | a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 others(23): Show |
26 | 360 | 0.0722 | 15 | c.58- others(32): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MINK1_chr17_4828340_4903061 | 4887670 | A | ACAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19090.hp1 | a0007 | a0007c0024 | a0007c0024t0006 | a0007c0024t0006g0330 | 1 | 360 | 0.0028 | 15 | c.112 others(24): Show |
p.Leu others(13): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 12/32 | 1383/5017 | 1139/3999 | 380/1332 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MIX23_chr3_122354591_122388231 | 122356134 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 others(50): Show |
69 | 420 | 0.1643 | 15 | c.*37 others(26): Show |
MIX23 | ENSG00000160124.9 | transcript | ENST00000291458.9 | protein_coding | 3456 | chr3 | TogoVar | |||||||
MKKS_chr20_10396009_10439222 | 10427021 | A | ACTGACAC others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0010 | a0002c0002t0005g0324 a0002c0002t0010g0037 |
2 | 390 | 0.0051 | 15 | c.-64 others(34): Show |
MKKS | ENSG00000125863.20 | transcript | ENST00000347364.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
MKLN1_chr7_131322876_131501632 | 131395450 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02155.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 others(13): Show |
16 | 320 | 0.0500 | 15 | c.401 others(32): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MKLN1_chr7_131322876_131501632 | 131411906 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18954.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0043 | a0001c0001t0002g0249 a0001c0001t0002g0300 a0001c0001t0043g0037 |
3 | 320 | 0.0094 | 15 | c.781 others(30): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MKNK1_chr1_46552407_46609268 | 46564044 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 a0001c0001t0002g0078 |
2 | 346 | 0.0058 | 15 | c.609 others(30): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140460246 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0390 | 1 | 434 | 0.0023 | 15 | c.315 others(30): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140474005 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 434 | 0.0023 | 15 | c.186 others(32): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140476471 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0358 a0001c0002t0004g0362 |
2 | 434 | 0.0046 | 15 | c.185 others(32): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
MKRN2_chr3_12552087_12588713 | 12576933 | G | GTTTTTGT others(8): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0198 | 1 | 328 | 0.0031 | 15 | c.968 others(30): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12576933 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 328 | 0.0031 | 15 | c.968 others(30): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12587837 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0002t0002g0055 |
3 | 328 | 0.0092 | 15 | c.*55 others(26): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 4125 | chr3 | TogoVar | |||||||
MKX_chr10_27667874_27750819 | 27690371 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0004g0186 others(11): Show |
15 | 354 | 0.0424 | 15 | c.839 others(34): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MKX_chr10_27667874_27750819 | 27694527 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0032 | a0001c0001t0006g0028 a0001c0001t0006g0099 a0001c0001t0006g0215 others(7): Show |
10 | 354 | 0.0283 | 15 | c.839 others(34): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MKX_chr10_27667874_27750819 | 27694527 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230 | 1 | 354 | 0.0028 | 15 | c.839 others(34): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MLF2_chr12_6742996_6758141 | 6756396 | C | CCTCTCTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0018others(2): Show | a0001c0001t0002g0015 a0001c0001t0002g0049 a0001c0001t0012g0023 others(3): Show |
15 | 426 | 0.0352 | 15 | c.-35 others(26): Show |
MLF2 | ENSG00000089693.11 | transcript | ENST00000203630.10 | protein_coding | 3256 | chr12 | TogoVar | |||||||
MLIP_chr6_54106443_54271280 | 54109924 | T | TCTTCTTC others(8): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 248 | 0.0040 | 15 | c.-15 others(26): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 1518 | chr6 | TogoVar | |||||||
MLLT10_chr10_21529232_21748630 | 21563791 | G | GTATTATT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0172 a0001c0002t0010g0183 |
2 | 192 | 0.0104 | 15 | c.241 others(34): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MLLT10_chr10_21529232_21748630 | 21617189 | T | TCATGAGA others(8): Show |
conservative_inframe_insertion others(1): Show |
MODERATE | NA18971.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0030 | 1 | 192 | 0.0052 | 15 | c.682 others(22): Show |
p.His others(13): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 8/23 | 986/5143 | 697/3207 | 233/1068 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
MLLT10_chr10_21529232_21748630 | 21717789 | T | TCTTCTTC others(8): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 192 | 0.0052 | 15 | c.187 others(34): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MLLT11_chr1_151055397_151074544 | 151070178 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 6 | 372 | 0.0161 | 15 | c.*26 others(26): Show |
MLLT11 | ENSG00000213190.4 | transcript | ENST00000368921.5 | protein_coding | 635 | chr1 | TogoVar | |||||||
MLLT1_chr19_6205381_6284975 | 6256255 | A | AAATAAAT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 286 | 0.0035 | 15 | c.276 others(32): Show |
MLLT1 | ENSG00000130382.9 | transcript | ENST00000252674.9 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
MLLT1_chr19_6205381_6284975 | 6259799 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 286 | 0.0035 | 15 | c.276 others(32): Show |
MLLT1 | ENSG00000130382.9 | transcript | ENST00000252674.9 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543077 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0028 | 1 | 286 | 0.0035 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543092 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0117 | 1 | 286 | 0.0035 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543370 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0097 | 1 | 286 | 0.0035 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543405 | G | GGGCACAG others(8): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 a0002c0002t0001g0067 |
2 | 286 | 0.0070 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543405 | G | GGGGGGAC others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0137 | 1 | 286 | 0.0035 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543613 | G | GGGCACAG others(8): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0250 | 1 | 286 | 0.0035 | 15 | c.153 others(32): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543717 | G | GGGGACAT others(8): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543734 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18964.hp1 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0003 | a0002c0002t0001g0066 a0006c0006t0003g0116 |
2 | 286 | 0.0070 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543936 | A | AGTGGGGG others(8): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543957 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0019 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543974 | G | GGGGACAG others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0115 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544127 | G | GGGGGGAC others(8): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544212 | T | TGGGCACG others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0191 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544212 | T | TGGGGACA others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0231 | 1 | 286 | 0.0035 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544225 | G | GGTGAGTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01123.hp1 others(40): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0044others(14): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(21): Show | a0001c0001t0001g0203 a0001c0001t0002g0098 a0001c0001t0002g0099 others(40): Show |
43 | 286 | 0.1504 | 15 | c.153 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544769 | G | GGGGGGAC others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0101 | 1 | 286 | 0.0035 | 15 | c.154 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544867 | G | GGTGAGTG others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp1 others(73): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(23): Show | a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0203 others(73): Show |
76 | 286 | 0.2657 | 15 | c.154 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237545085 | T | TGGTGAGT others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0101 | 1 | 286 | 0.0035 | 15 | c.154 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237545095 | G | GACAGTGG others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 HG03486.hp1 |
a0002a0003 | a0002c0008a0003c0003 | a0002c0008t0002a0003c0003t0002 | a0002c0008t0002g0092 a0002c0008t0002g0093 a0003c0003t0002g0257 |
3 | 286 | 0.0105 | 15 | c.154 others(34): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MMAB_chr12_109548715_109578504 | 109555275 | G | GTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0053 | a0002c0003t0053g0163 | 1 | 368 | 0.0027 | 15 | c.*17 others(26): Show |
MMAB | ENSG00000139428.12 | transcript | ENST00000545712.7 | protein_coding | 9/9 | 1752 | chr12 | TogoVar | ||||||
MMAB_chr12_109548715_109578504 | 109573841 | G | GGGCGGCG others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0002 | a0003c0002t0062 | a0003c0002t0062g0093 | 1 | 368 | 0.0027 | 15 | c.-37 others(24): Show |
MMAB | ENSG00000139428.12 | transcript | ENST00000545712.7 | protein_coding | 338 | chr12 | TogoVar |