regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAP7D2_chrX_20001713_20121907 | 20094487 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 210 | 0.0048 | -30 | c.130 others(49): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 1/16 | chrX | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1738301 | TGTGTGAC others(23): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 330 | 0.0030 | -30 | c.603 others(47): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MAPK8_chr10_48301677_48444360 | 48413815 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0286a0001c0001t0018g0095a0001c0001t0018g0096 | 3 | 306 | 0.0098 | -30 | c.450 others(47): Show |
MAPK8 | ENSG00000107643.17 | transcript | ENST00000374189.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAPKAP1_chr9_125432394_125712208 | 125693686 | CGTATATA others(23): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 300 | 0.0033 | -30 | c.-70 others(49): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125698288 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA18999.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0213a0001c0002t0001g0212 | 2 | 300 | 0.0067 | -30 | c.-70 others(47): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
MAPT_chr17_45889554_46033334 | 45926928 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp1 others(18): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0011a0003c0004t0015others(1): Show | a0003c0004t0004g0001a0003c0004t0004g0003a0003c0004t0004g0004others(18): Show | 21 | 253 | 0.0830 | -30 | c.-18 others(49): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MARCHF11_chr5_16062139_16184791 | 16125619 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02109.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103a0001c0001t0001g0197a0001c0001t0002g0104others(9): Show | 12 | 298 | 0.0403 | -30 | c.694 others(49): Show |
MARCHF11 | ENSG00000183654.9 | transcript | ENST00000332432.9 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163847549 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0032 | 1 | 102 | 0.0098 | -30 | c.111 others(47): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163934631 | ATCATGAA others(23): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 102 | 0.0098 | -30 | c.-39 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164346604 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0004g0100others(3): Show | 6 | 102 | 0.0588 | -30 | c.-32 others(51): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02735.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0138a0001c0002t0165 | a0001c0001t0138g0263a0001c0002t0165g0166 | 2 | 284 | 0.0070 | -30 | c.*19 others(41): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01071.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0044a0001c0001t0101others(1): Show | a0001c0001t0043g0136a0001c0001t0043g0137a0001c0001t0044g0108others(3): Show | 6 | 284 | 0.0211 | -30 | c.*19 others(41): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARCHF6_chr5_10348695_10445388 | 10435639 | CTATATAT others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0092 | 1 | 284 | 0.0035 | -30 | c.*19 others(41): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1985 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARCHF6_chr5_10348695_10445388 | 10435671 | ATATATAT others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0069 | 1 | 284 | 0.0035 | -30 | c.*19 others(41): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1989 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARK2_chr11_63834110_63916020 | 63871333 | GTGAAGAG others(23): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0104 | 1 | 232 | 0.0043 | -30 | c.55- others(47): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MARK2_chr11_63834110_63916020 | 63871603 | CTGAAGAG others(23): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0021 | a0001c0001t0001g0116a0001c0001t0018g0104a0001c0001t0021g0103 | 3 | 232 | 0.0129 | -30 | c.55- others(47): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MARK2_chr11_63834110_63916020 | 63871798 | AGTGTGCA others(23): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 232 | 0.0043 | -30 | c.55- others(47): Show |
MARK2 | ENSG00000072518.23 | transcript | ENST00000402010.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MARS1_chr12_57483068_57521652 | 57493563 | TATATTAT others(23): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0079a0001c0001t0001g0080others(1): Show | 4 | 288 | 0.0139 | -30 | c.770 others(47): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | chr12 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66919948 | CCTTCCTT others(23): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0010 | a0010c0037 | a0010c0037t0002 | a0010c0037t0002g0018 | 1 | 108 | 0.0093 | -30 | c.674 others(49): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | chr5 | TogoVar | ||||||
MASTL_chr10_27150352_27192953 | 27176023 | GGAGGCGG others(23): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 | 1 | 398 | 0.0025 | -30 | c.226 others(49): Show |
MASTL | ENSG00000120539.15 | transcript | ENST00000375940.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAVS_chr20_3841834_3881118 | 3879635 | GTACTTCG others(23): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0258 | 1 | 420 | 0.0024 | -30 | c.*13 others(43): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 3518 | chr20 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0046a0001c0001t0002g0187 | 3 | 298 | 0.0101 | -30 | c.212 others(49): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MBD3L2_chr19_7044321_7056735 | 7054002 | TATATATA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG03540.hp2 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 2 | 258 | 0.0078 | -30 | c.*23 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2268 | chr19 | TogoVar | ||||||
MBD3L2_chr19_7044321_7056735 | 7054060 | GTAATATA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0022a0002c0004t0003g0041a0002c0004t0003g0043 | 4 | 258 | 0.0155 | -30 | c.*24 others(41): Show |
MBD3L2 | ENSG00000230522.5 | transcript | ENST00000381393.3 | protein_coding | 2326 | chr19 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7054002 | TATATATA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01517.hp2 HG03195.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0004a0002c0002t0003g0029 | 3 | 288 | 0.0104 | -30 | c.*22 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2204 | chr19 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7054060 | GTAATATA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017a0002c0002t0003g0042 | 3 | 288 | 0.0104 | -30 | c.*22 others(41): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 2146 | chr19 | TogoVar | ||||||
MBD3L4_chr19_7032749_7045179 | 7040215 | TGACTTCT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0012 | a0012c0021 | a0012c0021t0006 | a0012c0021t0006g0053 | 1 | 262 | 0.0038 | -30 | c.-10 others(38): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 37 | chr19 | TogoVar | ||||||
MBLAC1_chr7_100121967_100133495 | 100131234 | TTTTTCTT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(75): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 78 | 390 | 0.2000 | -30 | c.*30 others(41): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 2740 | chr7 | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54168793 | CTTTCTTT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216a0001c0001t0002g0327 | 2 | 373 | 0.0054 | -30 | c.*52 others(41): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 4621 | chr19 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0119a0001c0001t0002g0116a0001c0001t0002g0129others(10): Show | 13 | 340 | 0.0382 | -30 | c.122 others(49): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
MB_chr22_35601764_35622329 | 35601963 | TTGTGTGT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0046 | 2 | 376 | 0.0053 | -30 | c.*53 others(41): Show |
MB | ENSG00000198125.13 | transcript | ENST00000397326.7 | protein_coding | 4800 | chr22 | TogoVar | ||||||
MCAT_chr22_43127209_43148398 | 43129228 | GTGCTGCT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 418 | 0.0024 | -30 | c.*37 others(41): Show |
MCAT | ENSG00000100294.13 | transcript | ENST00000290429.11 | protein_coding | 2980 | chr22 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113299292 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG01070.hp2 NA18957.hp2 |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0030 | a0003c0005t0001g0021a0003c0005t0030g0024 | 2 | 160 | 0.0125 | -30 | c.627 others(49): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183360956 | CAGAAAAG others(23): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03579.hp2 |
a0004a0024 | a0004c0004a0024c0021 | a0004c0004t0021a0024c0021t0003 | a0004c0004t0021g0149a0024c0021t0003g0027 | 2 | 176 | 0.0114 | -30 | c.275 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13204994 | GTATGTAT others(23): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0007 | a0001c0001t0001g0143a0001c0001t0003g0040a0001c0001t0003g0155others(1): Show | 4 | 432 | 0.0093 | -30 | c.249 others(47): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCM6_chr2_135834626_135881443 | 135862259 | TTTTTATA others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(262): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(148): Show | 265 | 394 | 0.6726 | -30 | c.122 others(47): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 8/16 | chr2 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6419128 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 |
a0020 | a0020c0028 | a0020c0028t0022 | a0020c0028t0022g0040a0020c0028t0022g0041 | 2 | 262 | 0.0076 | -30 | c.233 others(47): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCPH1_chr8_6401627_6653508 | 6505483 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(186): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0007a0001c0021others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(116): Show | a0001c0001t0001g0007a0001c0001t0001g0074a0001c0001t0001g0154others(186): Show | 189 | 262 | 0.7214 | -30 | c.221 others(49): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCRIP2_chr16_636828_653474 | 650831 | CCAGAACC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0012a0001c0001t0002g0040others(1): Show | 4 | 420 | 0.0095 | -30 | c.*26 others(41): Show |
MCRIP2 | ENSG00000172366.20 | transcript | ENST00000307650.9 | protein_coding | 2358 | chr16 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94730914 | AACACACT others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0028a0001c0001t0015g0030 | 2 | 98 | 0.0204 | -30 | c.261 others(51): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94752108 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02895.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0003t0021a0001c0006t0034others(2): Show | a0001c0002t0001g0077a0001c0003t0021g0007a0001c0006t0034g0055others(2): Show | 5 | 98 | 0.0510 | -30 | c.261 others(51): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95009056 | AAGAGAGA others(23): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 98 | 0.0102 | -30 | c.838 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95201464 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02027.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0027others(12): Show | a0001c0001t0002g0052a0001c0001t0010g0057a0001c0001t0027g0036others(13): Show | 16 | 98 | 0.1633 | -30 | c.720 others(49): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243060 | TACACGTG others(23): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0036 | a0001c0001t0001g0074a0001c0002t0002g0085a0001c0002t0036g0244 | 3 | 276 | 0.0109 | -30 | c.-66 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243317 | GTACATAC others(23): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104 | 2 | 276 | 0.0073 | -30 | c.-66 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94390060 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0092 | 1 | 276 | 0.0036 | -30 | c.178 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94390084 | ATATATGT others(23): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0026 | 1 | 276 | 0.0036 | -30 | c.178 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94456783 | CTTTACTG others(23): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0191 | 1 | 276 | 0.0036 | -30 | c.225 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72804017 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03704.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0090a0001c0002t0001g0208a0001c0002t0001g0209 | 3 | 210 | 0.0143 | -30 | c.151 others(49): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72804045 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02976.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0114a0001c0001t0001g0115 | 3 | 210 | 0.0143 | -30 | c.151 others(49): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |