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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBOAT4_chr8_30126671_30149665 | 30143347 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024 | 2 | 380 | 0.0053 | 30 | c.119 others(47): Show |
MBOAT4 | ENSG00000177669.4 | transcript | ENST00000320542.4 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54177151 | A | AAATACTA others(23): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0083 a0001c0002t0002g0057 |
2 | 373 | 0.0054 | 30 | c.103 others(49): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975180 | C | CTTTTCTT others(23): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0165 | 1 | 396 | 0.0025 | 30 | c.*52 others(41): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3652 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0261 | 1 | 340 | 0.0029 | 30 | c.*41 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0328 | 1 | 340 | 0.0029 | 30 | c.*41 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02300.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0280 a0001c0001t0054g0304 |
2 | 340 | 0.0059 | 30 | c.*10 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179496 | A | ATATTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG03831.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0198 a0001c0001t0015g0233 a0001c0001t0015g0245 others(1): Show |
4 | 340 | 0.0118 | 30 | c.*10 others(41): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1079 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0023 | 1 | 340 | 0.0029 | 30 | c.176 others(49): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051105 | G | GCCCGCAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 30 | c.*33 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2657 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051734 | C | CACATGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0268 a0001c0002t0021g0276 |
2 | 424 | 0.0047 | 30 | c.*27 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2028 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051759 | G | GCCCGCAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0360 | 1 | 424 | 0.0024 | 30 | c.*26 others(41): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2003 | chr16 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21862933 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18979.hp2 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0217 a0001c0002t0002g0057 a0001c0002t0002g0075 |
3 | 308 | 0.0097 | 30 | c.671 others(47): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0000 | 1 | 428 | 0.0023 | 30 | c.-25 others(41): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 30 | c.-25 others(41): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113354802 | A | ATTATTAT others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01981.hp1 HG02809.hp2 others(4): Show |
a0001a0003 | a0001c0003a0003c0005a0003c0014others(2): Show | a0001c0003t0019a0003c0005t0001a0003c0005t0019others(3): Show | a0001c0003t0019g0077 a0003c0005t0001g0020 a0003c0005t0001g0021 others(4): Show |
7 | 160 | 0.0438 | 30 | c.416 others(49): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 2/18 | chr5 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0197 | 1 | 418 | 0.0024 | 30 | c.41- others(43): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03927.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 a0003c0003t0001g0201 |
2 | 418 | 0.0048 | 30 | c.41- others(43): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183269230 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0053 | 1 | 176 | 0.0057 | 30 | c.186 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0023 | a0001c0023t0010 | a0001c0023t0010g0008 | 1 | 176 | 0.0057 | 30 | c.130 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183360974 | A | AAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0133 | 1 | 176 | 0.0057 | 30 | c.275 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183361077 | G | GAAGAGAA others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18950.hp1 NA18970.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0055 a0001c0001t0001g0086 a0003c0003t0003g0012 others(1): Show |
4 | 176 | 0.0227 | 30 | c.275 others(49): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGA others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp2 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0005g0062 others(17): Show |
20 | 116 | 0.1724 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGG others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0023a0001c0003t0025a0001c0003t0032others(2): Show | a0001c0001t0023g0018 a0001c0003t0025g0016 a0001c0003t0032g0106 others(2): Show |
5 | 116 | 0.0431 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113030310 | C | CGGTGTGG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113030365 | T | TGACGCAG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | 30 | c.278 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113056753 | G | GGGTGCTG others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02572.hp2 others(5): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0014a0001c0001t0022a0001c0001t0023others(5): Show | a0001c0001t0014g0001 a0001c0001t0022g0104 a0001c0001t0023g0018 others(5): Show |
8 | 116 | 0.0690 | 30 | c.370 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113058969 | C | CTGAGTGT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(49): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 others(49): Show |
52 | 116 | 0.4483 | 30 | c.370 others(47): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCM6_chr2_135834626_135881443 | 135862259 | T | TTTTTATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG01943.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026 | a0001c0001t0001g0055 a0001c0001t0003g0005 a0001c0001t0003g0202 others(5): Show |
15 | 394 | 0.0381 | 30 | c.122 others(47): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 8/16 | chr2 | TogoVar | |||||||
MCMBP_chr10_119824440_119877843 | 119850872 | C | CTTTCTGT others(23): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0060 | 1 | 400 | 0.0025 | 30 | c.575 others(47): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 6/15 | chr10 | TogoVar | |||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 414 | 0.0024 | 30 | c.-41 others(41): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | |||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 414 | 0.0024 | 30 | c.-41 others(41): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | |||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 414 | 0.0024 | 30 | c.-41 others(41): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01993.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023 | a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0004g0127 others(1): Show |
4 | 350 | 0.0114 | 30 | c.*42 others(41): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03516.hp1 HG03516.hp2 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0005a0006c0005t0001 | a0001c0001t0001g0054 a0001c0001t0005g0035 a0006c0005t0001g0043 |
3 | 350 | 0.0086 | 30 | c.*42 others(41): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84987657 | C | CATATGTA others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0010 others(2): Show |
6 | 350 | 0.0171 | 30 | c.77+ others(45): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94752108 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0091 | 1 | 98 | 0.0102 | 30 | c.261 others(51): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94910189 | C | CATACATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0039others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0084 others(11): Show |
14 | 98 | 0.1429 | 30 | c.152 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94940571 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03704.hp1 NA18612.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0002t0001others(3): Show | a0001c0001t0003g0018 a0001c0001t0017g0001 a0001c0002t0001g0063 others(3): Show |
6 | 98 | 0.0612 | 30 | c.106 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 4/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94947555 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0071 | 1 | 98 | 0.0102 | 30 | c.982 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0092 | 1 | 98 | 0.0102 | 30 | c.982 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 98 | 0.0102 | 30 | c.982 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0008 | a0002c0008t0009 | a0002c0008t0009g0008 | 1 | 98 | 0.0102 | 30 | c.982 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95207961 | G | GAGAGAGG others(23): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0083 | 1 | 98 | 0.0102 | 30 | c.720 others(49): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243315 | G | GTGTACAT others(23): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0007 | 1 | 276 | 0.0036 | 30 | c.-66 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | chr15 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94243317 | G | GTACATAC others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0238 a0001c0001t0001g0239 |
3 | 276 | 0.0109 | 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 | 94243317 | G | GTACATAC others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01258.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0127 a0001c0001t0002g0153 a0001c0001t0002g0154 others(14): Show |
17 | 276 | 0.0616 | 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 | 94243706 | C | CACATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0159 | 1 | 276 | 0.0036 | 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 | 94303064 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01257.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 others(16): Show |
19 | 276 | 0.0688 | 30 | c.465 others(47): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94464257 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0029 | 1 | 276 | 0.0036 | 30 | c.236 others(49): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72780511 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 210 | 0.0048 | 30 | c.151 others(49): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |