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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBD3L5_chr19_7025578_7038011 | 7035954 | ATATAATA others(26): Show |
A | downstream_gene_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 164 | 0.0061 | -33 | c.*30 others(44): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2944 | chr19 | TogoVar | |||||||
MBLAC1_chr7_100121967_100133495 | 100131261 | TTTCTTTT others(26): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -33 | c.*30 others(44): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 2767 | chr7 | TogoVar | |||||||
MBNL1_chr3_152263929_152470780 | 152467042 | TTCACTGA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 336 | 0.0030 | -33 | c.*46 others(44): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 1263 | chr3 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77028925 | TCCAGACT others(26): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0058 others(56): Show |
59 | 390 | 0.1513 | -33 | c.140 others(52): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MB_chr22_35601764_35622329 | 35611807 | CGGTCCTT others(26): Show |
C | intron_variant | MODIFIER | HG02055.hp1 NA18981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0035 a0001c0002t0004g0065 |
2 | 374 | 0.0053 | -33 | c.96- others(46): Show |
MB | ENSG00000198125.13 | transcript | ENST00000397326.7 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113106109 | GTTCACTA others(26): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01981.hp1 others(25): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0001c0007others(10): Show | a0001c0003t0019a0001c0004t0002a0001c0007t0022others(16): Show | a0001c0003t0019g0077 a0001c0004t0002g0098 a0001c0007t0022g0108 others(25): Show |
28 | 68 | 0.4118 | -33 | c.102 others(52): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113299292 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02723.hp2 HG03130.hp2 |
a0001 | a0001c0011a0001c0027a0001c0050 | a0001c0011t0004a0001c0027t0001a0001c0050t0005 | a0001c0011t0004g0054 a0001c0027t0001g0071 a0001c0050t0005g0106 |
3 | 9 | 0.3333 | -33 | c.627 others(52): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183216566 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0004 | a0004c0004t0020 | a0004c0004t0020g0149 | 1 | 174 | 0.0057 | -33 | c.237 others(50): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | |||||||
MCM6_chr2_135834626_135881443 | 135862268 | AAATAATA others(26): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0176 | 1 | 379 | 0.0026 | -33 | c.122 others(50): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 8/16 | chr2 | TogoVar | |||||||
MCRIP1_chr17_81817361_81838291 | 81818704 | GATAGTGA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0053 |
2 | 364 | 0.0055 | -33 | c.*45 others(44): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 3656 | chr17 | TogoVar | |||||||
MDH2_chr7_76043106_76072508 | 76065358 | CCTGAGTC others(26): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 396 | 0.0025 | -33 | c.885 others(48): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83243621 | AATCTATT others(26): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 270 | 0.0037 | -33 | c.815 others(50): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
ME2_chr18_50874118_50959257 | 50945328 | GCCTGGTC others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0145 | a0001c0001t0145g0302 | 1 | 340 | 0.0029 | -33 | c.158 others(52): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86674743 | ACTGTGTT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0013 | 1 | 318 | 0.0031 | -33 | c.-24 others(44): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2128 | chr11 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84509375 | GGACCCAG others(26): Show |
G | upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0434 | 1 | 466 | 0.0021 | -33 | c.-48 others(44): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 4717 | chr16 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378481 | GAGAGAGA others(26): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0074 | 1 | 160 | 0.0063 | -33 | c.375 others(50): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169378487 | GAGAAAGA others(26): Show |
G | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0060 | 1 | 151 | 0.0066 | -33 | c.375 others(50): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116031717 | AAAGAAAA others(26): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0253 | 1 | 252 | 0.0040 | -33 | c.480 others(50): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62062578 | AACACACA others(26): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 322 | 0.0031 | -33 | c.301 others(48): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
MED16_chr19_862963_898187 | 870593 | TGAATGGA others(26): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0016 | 1 | 54 | 0.0185 | -33 | c.231 others(50): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 13/15 | chr19 | TogoVar | |||||||
MED25_chr19_49813289_49841979 | 49837653 | CGGGGGCC others(26): Show |
C | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 404 | 0.0025 | -33 | c.*71 others(42): Show |
MED25 | ENSG00000104973.19 | transcript | ENST00000312865.10 | protein_coding | 675 | chr19 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 132084813 | CCCCTGGC others(26): Show |
C | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 272 | 0.0037 | -33 | c.-50 others(44): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 4947 | chr9 | TogoVar | |||||||
MED8_chr1_43378917_43394800 | 43391341 | CACAGCTA others(26): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -33 | c.-16 others(44): Show |
MED8 | ENSG00000159479.17 | transcript | ENST00000372457.9 | protein_coding | 1542 | chr1 | TogoVar | |||||||
MEF2B_chr19_19140567_19175263 | 19150095 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0229 |
2 | 402 | 0.0050 | -33 | c.54+ others(46): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
MEMO1_chr2_31862823_32016008 | 32002444 | ATACATAT others(26): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | 302 | 0.0066 | -33 | c.61+ others(48): Show |
MEMO1 | ENSG00000162959.14 | transcript | ENST00000404530.6 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
METTL17_chr14_20984980_21002035 | 20996603 | CCCGTATC others(26): Show |
C | disruptive_inframe_deletion | MODERATE | NA19010.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0035 | 1 | 476 | 0.0021 | -33 | c.116 others(42): Show |
p.Arg others(13): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1183/1539 | 1160/1371 | 387/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
MFF_chr2_227320251_227362833 | 227326080 | GACCTTCC others(26): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0158 | 1 | 404 | 0.0025 | -33 | c.-15 others(50): Show |
MFF | ENSG00000168958.21 | transcript | ENST00000304593.14 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MFN1_chr3_179342709_179399936 | 179374301 | AAATATAT others(26): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(207): Show |
259 | 312 | 0.8301 | -33 | c.976 others(48): Show |
MFN1 | ENSG00000171109.19 | transcript | ENST00000471841.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MFSD14B_chr9_94369569_94466042 | 94463732 | TGGCGGGC others(26): Show |
T | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 348 | 0.0029 | -33 | c.*43 others(44): Show |
MFSD14B | ENSG00000148110.17 | transcript | ENST00000375344.8 | protein_coding | 2691 | chr9 | TogoVar | |||||||
MFSD3_chr8_144504070_144516213 | 144509832 | TTTCTGCT others(26): Show |
T | disruptive_inframe_deletion | MODERATE | NA18946.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0004 | 1 | 398 | 0.0025 | -33 | c.500 others(40): Show |
p.Phe others(19): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 1/5 | 764/1552 | 500/1239 | 167/412 | chr8 | TogoVar | |||
MGAM_chr7_141990879_142111747 | 142067956 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 |
a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0059 a0006c0009t0002g0061 |
2 | 291 | 0.0069 | -33 | c.500 others(50): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142067958 | ATATATAA others(26): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0242 a0001c0002t0001g0178 |
2 | 255 | 0.0078 | -33 | c.500 others(50): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MIA_chr19_40770521_40782490 | 40782170 | TGCACAGA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -33 | c.*47 others(44): Show |
MIA | ENSG00000261857.7 | transcript | ENST00000263369.4 | protein_coding | 4681 | chr19 | TogoVar | |||||||
MIB1_chr18_21735792_21875953 | 21738806 | CAAAAAAA others(26): Show |
C | upstream_gene_variant | MODIFIER | NA18971.hp2 NA18972.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0186 a0001c0001t0001g0294 |
3 | 5 | 0.6000 | -33 | c.-27 others(44): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 1985 | chr18 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1442630 | ACCTCCCC others(26): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 276 | 0.0036 | -33 | c.141 others(50): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1442662 | CGCCTCCC others(26): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG02015.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0204 a0001c0007t0001g0018 a0001c0007t0001g0095 |
4 | 278 | 0.0144 | -33 | c.141 others(50): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
MICU1_chr10_72362340_72631079 | 72500280 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 203 | 0.0049 | -33 | c.652 others(50): Show |
MICU1 | ENSG00000107745.20 | transcript | ENST00000361114.10 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
MIER2_chr19_300573_349796 | 303347 | CCTCATCA others(26): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG02145.hp2 HG02559.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0086 others(13): Show |
19 | 382 | 0.0497 | -33 | c.*33 others(44): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2225 | chr19 | TogoVar | |||||||
MINDY2_chr15_58766302_58866900 | 58852939 | TTTTTTTT others(26): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(26): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0205 a0001c0001t0002g0320 a0001c0001t0002g0330 others(26): Show |
29 | 380 | 0.0763 | -33 | c.173 others(51): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 7 | 0.1429 | -33 | c.-2- others(48): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
MKRN1_chr7_140448033_140484505 | 140474004 | AAAAAGAA others(26): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG03239.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 a0002c0003t0001g0010 |
2 | 357 | 0.0056 | -33 | c.186 others(50): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237542837 | GGGGGACA others(26): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02486.hp2 others(3): Show |
a0003a0006a0016others(1): Show | a0003c0003a0006c0006a0016c0024others(1): Show | a0003c0003t0005a0006c0006t0003a0006c0006t0005others(2): Show | a0003c0003t0005g0139 a0006c0006t0003g0123 a0006c0006t0005g0023 others(3): Show |
6 | 284 | 0.0211 | -33 | c.153 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543128 | GGGCACAG others(26): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 283 | 0.0035 | -33 | c.153 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543537 | GGTGAGTG others(26): Show |
G | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0243 | 1 | 268 | 0.0037 | -33 | c.153 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543549 | ACAGTGGT others(26): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01981.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0002a0007c0007t0002 | a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0002g0217 others(1): Show |
4 | 284 | 0.0141 | -33 | c.153 others(50): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543818 | TGGGGGGA others(26): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 260 | 0.0038 | -33 | c.153 others(52): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543967 | GGTGAGTG others(26): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
a0003a0008a0016others(1): Show | a0003c0003a0008c0011a0016c0024others(1): Show | a0003c0003t0005a0008c0011t0001a0016c0024t0005others(1): Show | a0003c0003t0005g0241 a0008c0011t0001g0092 a0016c0024t0005g0141 others(1): Show |
4 | 277 | 0.0144 | -33 | c.153 others(52): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4781553 | CAAAAAAA others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 76 | 0.0132 | -33 | c.-14 others(54): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261401 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18953.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0022 a0003c0002t0002g0023 |
2 | 247 | 0.0081 | -33 | c.283 others(50): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
MOK_chr14_102223836_102310164 | 102261403 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG01346.hp1 NA19091.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0028 a0003c0002t0002g0110 |
2 | 250 | 0.0080 | -33 | c.283 others(50): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar |