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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(179): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 426 | 0.0024 | 186 | c.-86 others(195): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(179): Show |
intron_variant | MODIFIER | HG03130.hp2 HG06807.hp1 |
a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0151 a0002c0015t0001g0152 |
2 | 364 | 0.0055 | 186 | c.418 others(203): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(179): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 a0002c0002t0002g0164 |
2 | 364 | 0.0055 | 186 | c.418 others(203): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162486 | T | TACCCCAG others(179): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 364 | 0.0055 | 186 | c.418 others(203): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27713728 | T | TATATATA others(179): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0100 | 1 | 152 | 0.0066 | 186 | c.160 others(205): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | chr16 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79831252 | G | GACAGAGC others(179): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 |
3 | 312 | 0.0096 | 186 | c.-11 others(207): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210718378 | G | GCATATAT others(179): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 164 | 0.0061 | 186 | c.211 others(207): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162752903 | A | AAAAAAGA others(179): Show |
intron_variant | MODIFIER | HG01106.hp2 NA19074.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 a0001c0003t0001g0097 |
2 | 100 | 0.0200 | 186 | c.307 others(205): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77520049 | A | AGGTCTGG others(179): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0012 | a0001c0001t0009g0035 a0001c0002t0012g0050 |
2 | 106 | 0.0189 | 186 | c.379 others(207): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(179): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 308 | 0.0033 | 186 | c.-25 others(205): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(179): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 308 | 0.0033 | 186 | c.-25 others(205): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(179): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0028others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0005others(17): Show | a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 others(41): Show |
44 | 414 | 0.1063 | 186 | c.480 others(201): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240781443 | A | ACAGCTCC others(179): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0208 | 1 | 330 | 0.0030 | 186 | c.882 others(203): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KLHL23_chr2_169728832_169756878 | 169749968 | T | TATATGTG others(179): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG03239.hp2 HG03654.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0120 | a0001c0001t0017g0017 a0001c0001t0017g0084 a0001c0001t0017g0085 others(3): Show |
6 | 400 | 0.0150 | 186 | c.*24 others(195): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 241 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KLHL23_chr2_169728832_169756878 | 169750104 | A | ATACGTAT others(179): Show |
3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0308 | 1 | 400 | 0.0025 | 186 | c.*37 others(195): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 375 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129200312 | A | ATACACGT others(179): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0034 | a0034c0045 | a0034c0045t0002 | a0034c0045t0002g0006 | 1 | 88 | 0.0114 | 186 | c.178 others(205): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMB1_chr7_107918799_108008161 | 107977012 | T | TCCTTCCT others(179): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0181 | 1 | 364 | 0.0028 | 186 | c.100 others(205): Show |
LAMB1 | ENSG00000091136.15 | transcript | ENST00000222399.11 | protein_coding | 9/33 | chr7 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858178 | A | ACGGGATG others(179): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0052 | 1 | 294 | 0.0034 | 186 | c.153 others(205): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858356 | C | CGTGGTGT others(179): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 294 | 0.0034 | 186 | c.153 others(205): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859762 | G | GGTGTGAG others(179): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0030 | 1 | 294 | 0.0034 | 186 | c.153 others(205): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953238 | T | TGTCCACA others(179): Show |
intron_variant | MODIFIER | HG02148.hp1 NA20905.hp1 |
a0001a0020 | a0001c0001a0020c0061 | a0001c0001t0001a0020c0061t0001 | a0001c0001t0001g0201 a0020c0061t0001g0154 |
2 | 294 | 0.0068 | 186 | c.503 others(203): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953273 | A | ACACGTCC others(179): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0165 a0001c0019t0001g0100 |
2 | 294 | 0.0068 | 186 | c.503 others(203): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCCA others(179): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 294 | 0.0034 | 186 | c.503 others(201): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 961716 | C | CACAGACT others(179): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 294 | 0.0034 | 186 | c.194 others(203): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMX1B_chr9_126608928_126706032 | 126660172 | T | TGGGGGTA others(179): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0087 | 1 | 342 | 0.0029 | 186 | c.327 others(205): Show |
LMX1B | ENSG00000136944.19 | transcript | ENST00000373474.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620055 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 450 | 0.0044 | 186 | c.*11 others(197): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 163 | chr9 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135620055 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02572.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0002g0005 |
9 | 450 | 0.0200 | 186 | c.*11 others(197): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 163 | chr9 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135620109 | A | ACTCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 450 | 0.0022 | 186 | c.*11 others(197): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 217 | chr9 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(179): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0284 | 1 | 290 | 0.0035 | 186 | c.129 others(203): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LYAR_chr4_4262701_4295154 | 4263813 | A | ACTAACTT others(179): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 436 | 0.0023 | 186 | c.*40 others(197): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3887 | chr4 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248747214 | C | CCCCGCAC others(179): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0152 | 1 | 374 | 0.0027 | 186 | c.337 others(203): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 15021292 | G | GTGTATAC others(179): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 24 | 0.0417 | 186 | c.419 others(207): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113416284 | T | TATTAATT others(179): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0185 |
2 | 236 | 0.0085 | 186 | c.316 others(205): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185453931 | T | TGATATAT others(179): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0082 | 1 | 278 | 0.0036 | 186 | c.127 others(205): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAPK11_chr22_50258713_50275380 | 50274871 | G | GCCCCCTC others(179): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 428 | 0.0023 | 186 | c.-45 others(197): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4492 | chr22 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(179): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 288 | 0.0035 | 186 | c.-31 others(197): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061744 | A | ATTATATA others(179): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 NA18906.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0010 |
4 | 288 | 0.0139 | 186 | c.-31 others(197): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3069 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061744 | A | ATTATATA others(179): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 HG02132.hp1 HG02155.hp2 others(8): Show |
a0002a0010 | a0002c0002a0002c0008a0010c0013 | a0002c0002t0001a0002c0008t0001a0010c0013t0001 | a0002c0002t0001g0004 a0002c0008t0001g0021 a0010c0013t0001g0039 |
11 | 288 | 0.0382 | 186 | c.-31 others(197): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3069 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061744 | A | ATTATATA others(179): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 2 | 288 | 0.0069 | 186 | c.-31 others(197): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3069 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061753 | A | AATATAAT others(179): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 2 | 288 | 0.0069 | 186 | c.-31 others(197): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3078 | chr19 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20111869 | C | CGTATATA others(179): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0004 | a0004c0004t0075 | a0004c0004t0075g0309 | 1 | 336 | 0.0030 | 186 | c.120 others(205): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
MDM2_chr12_68803177_68850544 | 68833280 | A | AATATATA others(179): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0295 |
2 | 388 | 0.0052 | 186 | c.685 others(203): Show |
MDM2 | ENSG00000135679.27 | transcript | ENST00000258149.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MDP1_chr14_24208943_24221066 | 24209057 | G | GAAAGCTA others(179): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG00735.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0002c0002t0001g0004 others(3): Show |
12 | 404 | 0.0297 | 186 | c.*49 others(197): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 4885 | chr14 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000591 | A | ACCGTGTG others(179): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03486.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0003a0006c0007t0010 | a0001c0001t0003g0092 a0006c0007t0010g0022 |
3 | 420 | 0.0071 | 186 | c.*27 others(197): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1148 | chr3 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090485 | A | ACCCCCGC others(179): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0283 | 1 | 399 | 0.0025 | 186 | c.557 others(203): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090506 | A | ACCCCCCG others(179): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0382 | 1 | 399 | 0.0025 | 186 | c.557 others(203): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(179): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 181 | 0.0055 | 186 | c.107 others(205): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79439193 | T | TGTGGGGT others(179): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 390 | 0.0026 | 186 | c.-51 others(203): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544181 | G | GGGACAGT others(179): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 286 | 0.0035 | 186 | c.153 others(205): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496622 | A | ATGGTGGT others(179): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 250 | 0.0040 | 186 | c.633 others(203): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |