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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBNL2_chr13_97217333_97399120 | 97291943 | CTGTAATC others(8): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 254 | 0.0039 | -15 | c.174 others(34): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132408092 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0073 a0001c0001t0005g0094 a0001c0001t0006g0095 others(6): Show |
9 | 191 | 0.0471 | -15 | c.178 others(32): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20168599 | GAGAGAAG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(136): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0040 others(136): Show |
139 | 336 | 0.4137 | -15 | c.100 others(34): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20212386 | CGGCGCAA others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03516.hp2 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0069a0002c0002t0070 | a0002c0002t0069g0305 a0002c0002t0070g0306 |
2 | 336 | 0.0060 | -15 | c.-16 others(24): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/13 | 153 | chr6 | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54168793 | CTTTCTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01496.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0155 others(10): Show |
13 | 373 | 0.0349 | -15 | c.*52 others(26): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4621 | chr19 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54173178 | GGCCAGGG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0095 others(9): Show |
12 | 373 | 0.0322 | -15 | c.*85 others(24): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 236 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975170 | CTTTTCTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG02698.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0120 a0001c0001t0003g0201 a0001c0001t0009g0144 others(1): Show |
4 | 396 | 0.0101 | -15 | c.*52 others(26): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3662 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975218 | CTTTCTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0150 | 1 | 396 | 0.0025 | -15 | c.*51 others(26): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3614 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51177036 | CAAGACTC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0038a0001c0002t0065 | a0001c0002t0010g0012 a0001c0002t0038g0017 a0001c0002t0065g0016 |
3 | 340 | 0.0088 | -15 | c.*35 others(26): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 388 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179483 | TTTATATA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG02922.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0059 a0001c0001t0029g0066 a0001c0001t0029g0071 |
3 | 340 | 0.0088 | -15 | c.*10 others(26): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1078 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51210757 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01943.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0064 | a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0045 others(4): Show |
7 | 340 | 0.0206 | -15 | c.487 others(32): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 6/16 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51212364 | AAAAAGAA others(8): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0304 | 1 | 340 | 0.0029 | -15 | c.486 others(32): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 6/16 | chr17 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84057847 | GTGATGGA others(8): Show |
G | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 424 | 0.0024 | -15 | c.283 others(34): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13901202 | GCAAATAC others(8): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 416 | 0.0024 | -15 | c.-12 others(36): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60370728 | TGTGTCTG others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | -15 | c.*60 others(24): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 333 | chr18 | TogoVar | |||||||
MCAT_chr22_43127209_43148398 | 43130417 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 NA18987.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0037 a0003c0003t0002g0011 |
2 | 418 | 0.0048 | -15 | c.*26 others(26): Show |
MCAT | ENSG00000100294.13 | transcript | ENST00000290429.11 | protein_coding | 1791 | chr22 | TogoVar | |||||||
MCCC1_chr3_183010218_183104496 | 183102758 | GTTTTTTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02293.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0001a0002c0002t0001a0003c0007t0001 | a0001c0001t0001g0025 a0001c0001t0001g0075 a0001c0001t0001g0180 others(2): Show |
5 | 344 | 0.0145 | -15 | c.-33 others(26): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 3263 | chr3 | TogoVar | |||||||
MCCD1_chr6_31523962_31535232 | 31525296 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00733.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0003 |
22 | 445 | 0.0494 | -15 | c.-37 others(26): Show |
MCCD1 | ENSG00000204511.3 | transcript | ENST00000376191.3 | protein_coding | 3665 | chr6 | TogoVar | |||||||
MCCD1_chr6_31523962_31535232 | 31526595 | AGTGTACA others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 445 | 0.0023 | -15 | c.-24 others(26): Show |
MCCD1 | ENSG00000204511.3 | transcript | ENST00000376191.3 | protein_coding | 2366 | chr6 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113036012 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 |
a0001a0003 | a0001c0021a0003c0014 | a0001c0021t0026a0003c0014t0010 | a0001c0021t0026g0037 a0003c0014t0010g0010 |
2 | 160 | 0.0125 | -15 | c.275 others(34): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 17/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113100464 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0007 | a0007c0049 | a0007c0049t0001 | a0007c0049t0001g0080 | 1 | 160 | 0.0063 | -15 | c.139 others(34): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 8/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113142852 | GGATGCTC others(8): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0022others(13): Show | a0001c0003t0001a0001c0003t0012a0001c0003t0019others(21): Show | a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(41): Show |
44 | 160 | 0.2750 | -15 | c.884 others(30): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 5/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113185247 | AGGAGAGT others(8): Show |
A | intron_variant | MODIFIER | NA18957.hp1 | a0004 | a0004c0019 | a0004c0019t0003 | a0004c0019t0003g0113 | 1 | 160 | 0.0063 | -15 | c.628 others(34): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113269297 | TCTTTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01070.hp1 others(31): Show |
a0001a0003a0006others(2): Show | a0001c0003a0001c0004a0001c0007others(14): Show | a0001c0003t0001a0001c0003t0009a0001c0003t0012others(24): Show | a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0009g0075 others(31): Show |
34 | 160 | 0.2125 | -15 | c.627 others(34): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113299292 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp2 HG02897.hp1 |
a0003 | a0003c0014a0003c0015 | a0003c0014t0018a0003c0015t0011 | a0003c0014t0018g0028 a0003c0015t0011g0030 a0003c0015t0011g0031 |
3 | 160 | 0.0188 | -15 | c.627 others(34): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113331614 | GTTTGTTT others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(87): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0007others(40): Show | a0001c0003t0001a0001c0003t0009a0001c0003t0012others(66): Show | a0001c0003t0001g0083 a0001c0003t0001g0095 a0001c0003t0001g0099 others(87): Show |
90 | 160 | 0.5625 | -15 | c.627 others(32): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71104848 | TAAAAAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(33): Show |
76 | 418 | 0.1818 | -15 | c.*51 others(26): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 4838 | chr2 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183360956 | CAGAAAAG others(8): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0050 others(21): Show |
24 | 176 | 0.1364 | -15 | c.275 others(34): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183421652 | GCAGTTTC others(8): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0024 | a0024c0030 | a0024c0030t0004 | a0024c0030t0004g0165 | 1 | 176 | 0.0057 | -15 | c.76+ others(30): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113055385 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0104 | 1 | 116 | 0.0086 | -15 | c.370 others(32): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | chr13 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113058042 | AGGTGCTG others(8): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 116 | 0.0086 | -15 | c.370 others(32): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCIDAS_chr5_55214564_55232315 | 55214929 | CTTTTATT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 386 | 0.0026 | -15 | c.*54 others(26): Show |
MCIDAS | ENSG00000234602.9 | transcript | ENST00000513312.3 | protein_coding | 4634 | chr5 | TogoVar | |||||||
MCM2_chr3_127593411_127627436 | 127611682 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG03579.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0261 a0002c0005t0001g0264 |
2 | 426 | 0.0047 | -15 | c.142 others(34): Show |
MCM2 | ENSG00000073111.14 | transcript | ENST00000265056.12 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MCM4_chr8_47955941_47983160 | 47968751 | AGATAGCT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02965.hp1 others(1): Show |
a0001a0006 | a0001c0006a0006c0014 | a0001c0006t0011a0006c0014t0011 | a0001c0006t0011g0024 a0001c0006t0011g0099 a0001c0006t0011g0116 others(1): Show |
4 | 314 | 0.0127 | -15 | c.117 others(34): Show |
MCM4 | ENSG00000104738.19 | transcript | ENST00000649973.1 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCM6_chr2_135834626_135881443 | 135863723 | TAACAAAA others(8): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 394 | 0.0025 | -15 | c.107 others(32): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 7/16 | chr2 | TogoVar | |||||||
MCM7_chr7_100087728_100106397 | 100105926 | GCCTGAGT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | -15 | c.-46 others(26): Show |
MCM7 | ENSG00000166508.19 | transcript | ENST00000303887.10 | protein_coding | 4530 | chr7 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118824035 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp1 others(39): Show |
a0001a0017a0018others(1): Show | a0001c0002a0001c0016a0017c0013others(2): Show | a0001c0002t0003a0001c0002t0012a0001c0002t0019others(4): Show | a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0103 others(37): Show |
42 | 348 | 0.1207 | -15 | c.196 others(34): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 13/13 | chr6 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118916432 | CATTATTA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(102): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(17): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(98): Show |
105 | 348 | 0.3017 | -15 | c.904 others(32): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119836757 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(97): Show |
114 | 400 | 0.2850 | -15 | c.154 others(32): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 13/15 | chr10 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119852152 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 400 | 0.0025 | -15 | c.574 others(30): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 6/15 | chr10 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119863728 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 400 | 0.0025 | -15 | c.59- others(30): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
MCMDC2_chr8_66865771_66927048 | 66867551 | AAATAATA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 202 | 0.0050 | -15 | c.-33 others(26): Show |
MCMDC2 | ENSG00000178460.18 | transcript | ENST00000422365.7 | protein_coding | 3219 | chr8 | TogoVar | |||||||
MCMDC2_chr8_66865771_66927048 | 66903329 | ATTTATAC others(8): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0096 |
2 | 202 | 0.0099 | -15 | c.177 others(34): Show |
MCMDC2 | ENSG00000178460.18 | transcript | ENST00000422365.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCOLN3_chr1_85013082_85053500 | 85017958 | ACCACAGC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(72): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0002a0005c0006t0002 | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0012 others(28): Show |
75 | 370 | 0.2027 | -15 | c.*11 others(26): Show |
MCOLN3 | ENSG00000055732.13 | transcript | ENST00000370589.7 | protein_coding | 123 | chr1 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6416275 | TATGTCAT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(242): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0007a0001c0021others(79): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(150): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0074 others(242): Show |
245 | 262 | 0.9351 | -15 | c.233 others(32): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6419175 | ACACACAC others(8): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0140 | 1 | 262 | 0.0038 | -15 | c.233 others(32): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6576682 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(13): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0007a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(9): Show | a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0191 others(13): Show |
16 | 262 | 0.0611 | -15 | c.221 others(36): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6623688 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 |
a0002a0026 | a0002c0034a0026c0082 | a0002c0034t0016a0026c0082t0016 | a0002c0034t0016g0164 a0026c0082t0016g0058 |
2 | 262 | 0.0076 | -15 | c.245 others(34): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCRIP1_chr17_81817361_81838291 | 81820396 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -15 | c.*28 others(26): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 1964 | chr17 | TogoVar | |||||||
MCRIP2_chr16_636828_653474 | 641083 | TCCCCCCA others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 2 | 420 | 0.0048 | -15 | c.-90 others(24): Show |
MCRIP2 | ENSG00000172366.20 | transcript | ENST00000307650.9 | protein_coding | 744 | chr16 | TogoVar |