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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MARCHF1_chr4_163519718_164389019 | 164006990 | GAAAAAAA others(19): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0093 | 1 | 102 | 0.0098 | -26 | c.-24 others(47): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 2/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164220648 | CATATATG others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0025a0001c0006t0001 | a0001c0001t0007g0042a0001c0001t0025g0101a0001c0006t0001g0041 | 3 | 102 | 0.0294 | -26 | c.-32 others(49): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164346604 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp1 NA18969.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0002t0002 | a0001c0001t0004g0052a0001c0001t0004g0057a0001c0001t0017g0039others(2): Show | 5 | 102 | 0.0490 | -26 | c.-32 others(47): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
MARCHF3_chr5_126862714_127035558 | 126916692 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01517.hp2 HG01993.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0075others(1): Show | a0001c0001t0007g0039a0001c0001t0007g0082a0001c0001t0007g0094others(5): Show | 8 | 296 | 0.0270 | -26 | c.188 others(43): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435631 | CTATATAA others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0030a0001c0001t0093others(2): Show | a0001c0001t0017g0053a0001c0001t0017g0060a0001c0001t0017g0086others(5): Show | 8 | 284 | 0.0282 | -26 | c.*19 others(37): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1954 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MARK3_chr14_103380415_103508831 | 103450895 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0102 | 1 | 348 | 0.0029 | -26 | c.347 others(42): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 4/17 | chr14 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493952 | TTTAATTT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 288 | 0.0035 | -26 | c.770 others(43): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | chr12 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66844139 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 108 | 0.0093 | -26 | c.642 others(45): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66868436 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0011 | a0011c0028 | a0011c0028t0003 | a0011c0028t0003g0033 | 1 | 108 | 0.0093 | -26 | c.643 others(45): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST4_chr5_66591393_67174593 | 66919952 | CCTTCCTT others(19): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0083 | 1 | 108 | 0.0093 | -26 | c.674 others(45): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | chr5 | TogoVar | ||||||
MAT2B_chr5_163500619_163524354 | 163511556 | TAAAGGCA others(19): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 370 | 0.0027 | -26 | c.64- others(39): Show |
MAT2B | ENSG00000038274.18 | transcript | ENST00000321757.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MATCAP1_chr16_67170599_67188963 | 67176054 | AGTGTGTG others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0083 | 1 | 308 | 0.0033 | -26 | c.*73 others(35): Show |
MATCAP1 | ENSG00000196123.13 | transcript | ENST00000563902.2 | protein_coding | 7/7 | 731 | chr16 | TogoVar | |||||
MATCAP2_chr7_36319152_36372240 | 36342384 | TGGTCAGG others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0219 | 3 | 388 | 0.0077 | -26 | c.715 others(43): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
MAX_chr14_65070127_65107517 | 65089756 | TAAAAAAA others(19): Show |
T | intron_variant | MODIFIER | HG02074.hp1 NA18985.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 4 | 382 | 0.0105 | -26 | c.171 others(43): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192828591 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 298 | 0.0034 | -26 | c.212 others(45): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7062157 | TTATAATA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02523.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0006 | 3 | 288 | 0.0104 | -26 | c.-35 others(37): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3482 | chr19 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148389251 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023 | a0001c0001t0014g0151a0001c0001t0023g0159 | 2 | 188 | 0.0106 | -26 | c.-55 others(47): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MBNL2_chr13_97217333_97399120 | 97233126 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA18967.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0111a0001c0001t0002g0165a0001c0001t0003g0047 | 3 | 254 | 0.0118 | -26 | c.-60 others(47): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MBNL2_chr13_97217333_97399120 | 97381073 | ATCTCTCC others(19): Show |
A | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112a0001c0001t0004g0233 | 2 | 254 | 0.0079 | -26 | c.104 others(47): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MBNL3_chrX_132364320_132494038 | 132408092 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02717.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0180a0001c0001t0007g0181a0001c0001t0007g0183others(1): Show | 4 | 191 | 0.0209 | -26 | c.178 others(43): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
MBOAT7_chr19_54168415_54194580 | 54188035 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(158): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(155): Show | 161 | 373 | 0.4316 | -26 | c.206 others(41): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77030120 | CTCAGGCA others(19): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0164a0001c0001t0002g0294a0001c0001t0002g0302others(3): Show | 6 | 396 | 0.0152 | -26 | c.140 others(45): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77074293 | CCAAGGGG others(19): Show |
C | intron_variant | MODIFIER | HG03688.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0384a0001c0001t0027g0385 | 2 | 396 | 0.0051 | -26 | c.52- others(41): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179482 | TTTTATAT others(19): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0309 | 1 | 340 | 0.0029 | -26 | c.*10 others(37): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1068 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0117a0001c0001t0004g0102a0001c0001t0004g0112others(18): Show | 21 | 340 | 0.0618 | -26 | c.122 others(45): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51200764 | CGAGGCAG others(19): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01943.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0043a0001c0001t0012g0044a0001c0001t0012g0045others(2): Show | 5 | 340 | 0.0147 | -26 | c.122 others(43): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
MBTPS2_chrX_21834617_21890423 | 21870822 | AAAAATCA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0012others(70): Show | 78 | 308 | 0.2533 | -26 | c.970 others(43): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MC1R_chr16_89913862_89925972 | 89913932 | GGTGCGCA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 396 | 0.0025 | -26 | c.-53 others(37): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 4929 | chr16 | TogoVar | ||||||
MC1R_chr16_89913862_89925972 | 89914488 | GTGCGCCT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03225.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 396 | 0.0076 | -26 | c.-47 others(37): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 4373 | chr16 | TogoVar | ||||||
MCCC1_chr3_183010218_183104496 | 183102758 | GTTTTTTT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009a0002c0002t0001g0330 | 2 | 344 | 0.0058 | -26 | c.-33 others(37): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 3263 | chr3 | TogoVar | ||||||
MCCC2_chr5_71582340_71663706 | 71633107 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0192 | 1 | 350 | 0.0029 | -26 | c.803 others(41): Show |
MCCC2 | ENSG00000131844.17 | transcript | ENST00000340941.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113145759 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0064 | 1 | 160 | 0.0063 | -26 | c.742 others(43): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113299292 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00733.hp2 others(27): Show |
a0001a0003a0010others(1): Show | a0001c0003a0001c0004a0001c0007others(14): Show | a0001c0003t0001a0001c0003t0012a0001c0004t0002others(23): Show | a0001c0003t0001g0099a0001c0003t0012g0097a0001c0004t0002g0068others(27): Show | 30 | 160 | 0.1875 | -26 | c.627 others(45): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183216572 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02155.hp1 HG02523.hp1 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0001a0003c0003t0003a0003c0003t0008others(2): Show | a0002c0002t0001g0020a0003c0003t0003g0145a0003c0003t0008g0025others(3): Show | 6 | 176 | 0.0341 | -26 | c.237 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183216574 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(42): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0033a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0033t0001others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0037others(42): Show | 45 | 176 | 0.2557 | -26 | c.237 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183216576 | ATATATTT others(19): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG01258.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0002a0003c0003t0003a0006c0006t0003 | a0001c0001t0002g0023a0001c0001t0002g0094a0001c0001t0002g0101others(4): Show | 7 | 176 | 0.0398 | -26 | c.237 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183216578 | ATATTTTT others(19): Show |
A | intron_variant | MODIFIER | NA18957.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0132 | 1 | 176 | 0.0057 | -26 | c.237 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183351224 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0008 | a0008c0008 | a0008c0008t0006 | a0008c0008t0006g0016 | 1 | 176 | 0.0057 | -26 | c.276 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13204990 | GTATGTAT others(19): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG02071.hp2 others(23): Show |
a0001a0019a0021 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0056a0001c0001t0001g0072others(22): Show | 26 | 432 | 0.0602 | -26 | c.249 others(43): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCM10_chr10_13156558_13216110 | 13204998 | GTATGTAT others(19): Show |
G | intron_variant | MODIFIER | HG01884.hp1 NA18950.hp1 NA18984.hp1 |
a0001a0014 | a0001c0001a0014c0019 | a0001c0001t0001a0014c0019t0021 | a0001c0001t0001g0239a0001c0001t0001g0243a0014c0019t0021g0059 | 3 | 432 | 0.0069 | -26 | c.249 others(43): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCM5_chr22_35395140_35430431 | 35416511 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 404 | 0.0025 | -26 | c.141 others(41): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MCM6_chr2_135834626_135881443 | 135835482 | GTATATAT others(19): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG02055.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0006a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0001t0006g0039a0001c0001t0006g0040a0001c0001t0006g0170others(13): Show | 19 | 394 | 0.0482 | -26 | c.*53 others(37): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 4143 | chr2 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84996393 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(164): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0013a0001c0001t0002g0189a0001c0001t0002g0191others(156): Show | 167 | 350 | 0.4771 | -26 | c.77+ others(39): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505285 | TGTTATAT others(19): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01934.hp1 NA18962.hp1 |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0011 | a0001c0001t0024a0003c0003t0003a0011c0011t0001 | a0001c0001t0024g0260a0003c0003t0003g0157a0011c0011t0001g0247 | 3 | 262 | 0.0115 | -26 | c.221 others(45): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6640059 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0029a0036 | a0029c0058a0036c0071 | a0029c0058t0025a0036c0071t0025 | a0029c0058t0025g0224a0036c0071t0025g0230 | 2 | 262 | 0.0076 | -26 | c.245 others(45): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 94940575 | TACATATA others(19): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0027a0001c0010t0002 | a0001c0001t0027g0036a0001c0010t0002g0098 | 2 | 98 | 0.0204 | -26 | c.106 others(43): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 4/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95009056 | AAGAGAGA others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0052a0001c0001t0003g0078a0001c0001t0004g0005others(19): Show | 22 | 98 | 0.2245 | -26 | c.838 others(43): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95061408 | GTTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 98 | 0.0102 | -26 | c.721 others(45): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95207942 | AGAGAGGG others(19): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0039 | a0001c0001t0015g0028a0001c0001t0015g0030a0001c0001t0039g0029 | 3 | 98 | 0.0306 | -26 | c.720 others(45): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94242921 | GTACACAT others(19): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0016 | a0001c0016t0047 | a0001c0016t0047g0174 | 1 | 276 | 0.0036 | -26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |