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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAST4_chr5_66591393_67174593 | 66844139 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 5 | 0.2000 | -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 | a0011c0028t0003g0032 | 1 | 106 | 0.0094 | -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 | a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0082 | 1 | 106 | 0.0094 | -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 | 368 | 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 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 6 | 0.1667 | -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 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 |
3 | 386 | 0.0078 | -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 | a0001c0001t0002g0018 | 4 | 6 | 0.6667 | -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 | a0001c0001t0002g0095 | 1 | 49 | 0.0204 | -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 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 279 | 0.0108 | -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 | a0001c0001t0014a0001c0001t0024 | a0001c0001t0014g0151 a0001c0001t0024g0159 |
2 | 97 | 0.0206 | -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 | a0001c0001t0002g0111 a0001c0001t0002g0165 a0001c0001t0003g0047 |
3 | 62 | 0.0484 | -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 | a0001c0001t0004g0112 a0001c0001t0004g0233 |
2 | 252 | 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 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0186 others(1): Show |
4 | 12 | 0.3333 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(154): Show |
161 | 372 | 0.4328 | -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 | a0001c0001t0001g0152 a0001c0001t0002g0233 a0001c0001t0002g0236 others(3): Show |
6 | 394 | 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 | a0001c0001t0008g0384 a0001c0001t0027g0389 |
2 | 394 | 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 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 251 | 0.0040 | -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 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0060 a0001c0001t0002g0068 others(18): Show |
21 | 24 | 0.8750 | -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 | a0001c0001t0008 | a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 others(2): Show |
5 | 338 | 0.0148 | -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 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 others(58): Show |
78 | 306 | 0.2549 | -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 | 394 | 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 | 394 | 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 | a0002c0002t0001g0009 a0002c0002t0001g0330 |
2 | 21 | 0.0952 | -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 | a0001c0007t0002g0191 | 1 | 348 | 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 | 158 | 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 |
a0001a0003a0006others(1): Show | a0001c0003a0001c0004a0001c0007others(14): Show | a0001c0003t0001a0001c0003t0012a0001c0004t0002others(23): Show | a0001c0003t0001g0099 a0001c0003t0012g0097 a0001c0004t0002g0068 others(27): Show |
30 | 36 | 0.8333 | -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 | a0002c0002t0001g0020 a0003c0003t0003g0145 a0003c0003t0008g0025 others(3): Show |
6 | 155 | 0.0387 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0037 others(42): Show |
45 | 156 | 0.2885 | -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 |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0002a0003c0003t0003a0005c0006t0003 | a0001c0001t0002g0023 a0001c0001t0002g0094 a0001c0001t0002g0101 others(4): Show |
7 | 157 | 0.0446 | -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 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0132 | 1 | 164 | 0.0061 | -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 | a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0016 | 1 | 174 | 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 |
a0001a0016a0022 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0061 a0001c0001t0001g0077 others(21): Show |
26 | 153 | 0.1699 | -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 |
a0001a0015 | a0001c0001a0015c0019 | a0001c0001t0001a0015c0019t0021 | a0001c0001t0001g0021 a0015c0019t0021g0064 |
3 | 368 | 0.0082 | -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 | a0001c0002t0003g0118 | 1 | 24 | 0.0417 | -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 |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0006a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0161 others(11): Show |
19 | 74 | 0.2568 | -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(163): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0015 a0001c0001t0002g0189 a0001c0001t0002g0191 others(154): Show |
166 | 181 | 0.9171 | -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 | a0001c0001t0024g0260 a0003c0003t0003g0176 a0011c0011t0001g0247 |
3 | 259 | 0.0116 | -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 |
a0028a0044 | a0028c0058a0044c0071 | a0028c0058t0025a0044c0071t0025 | a0028c0058t0025g0224 a0044c0071t0025g0230 |
2 | 118 | 0.0169 | -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 | a0001c0001t0027g0036 a0001c0010t0002g0098 |
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 | a0001c0001t0002g0052 a0001c0001t0003g0077 a0001c0001t0004g0005 others(19): Show |
22 | 31 | 0.7097 | -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 | 10 | 0.1000 | -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 | a0001c0001t0015g0028 a0001c0001t0015g0030 a0001c0001t0039g0029 |
3 | 87 | 0.0345 | -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 | a0001c0016t0047g0103 | 1 | 274 | 0.0036 | -26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94242954 | TATACACG others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0053others(10): Show | a0001c0001t0003g0160 a0001c0001t0017g0051 a0001c0001t0053g0169 others(14): Show |
17 | 238 | 0.0714 | -26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243062 | CACGTGTA others(19): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 NA19001.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0002t0013a0001c0002t0055others(1): Show | a0001c0001t0006g0126 a0001c0002t0013g0061 a0001c0002t0055g0079 others(1): Show |
4 | 272 | 0.0147 | -26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94390064 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0011 | a0007c0011t0011 | a0007c0011t0011g0274 | 1 | 269 | 0.0037 | -26 | c.178 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72804017 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0002t0001g0003 others(5): Show |
8 | 47 | 0.1702 | -26 | c.151 others(45): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37664842 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0003t0121a0001c0005t0004others(4): Show | a0001c0003t0006g0214 a0001c0003t0121g0391 a0001c0005t0004g0312 others(7): Show |
10 | 50 | 0.2000 | -26 | c.68- others(39): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37698156 | TTCTCTTT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01516.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0272 a0001c0001t0004g0295 a0001c0001t0007g0014 others(8): Show |
11 | 372 | 0.0296 | -26 | c.-13 others(37): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 274 | chr6 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46929599 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 a0001c0001t0002g0088 |
2 | 75 | 0.0267 | -26 | c.209 others(45): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar |