| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(239): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0072 | 1 | 426 | 0.0024 | 246 | c.-86 others(255): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | ||||||
| JAKMIP1_chr4_6021199_6205549 | 6067579 | G | GCACTCAA others(239): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0151 | 2 | 233 | 0.0086 | 246 | c.130 others(265): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79894279 | G | GTTCACTC others(239): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 312 | 0.0032 | 246 | c.625 others(263): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79894279 | G | GTTCACTC others(239): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 312 | 0.0032 | 246 | c.625 others(263): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79894279 | G | GTTCACTC others(239): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(287): Show | 291 | 312 | 0.9327 | 246 | c.625 others(263): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79894279 | G | GTTCACTC others(239): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01346.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036a0001c0003t0001g0072a0001c0003t0001g0120others(13): Show | 16 | 312 | 0.0513 | 246 | c.625 others(263): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNK9_chr8_139612121_139708123 | 139687558 | G | GTGTACAC others(239): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 322 | 0.0031 | 246 | c.283 others(265): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(239): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 232 | 0.0043 | 246 | c.-67 others(265): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNQ2_chr20_63395208_63477655 | 63442897 | C | CATCACCA others(239): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0016 | 1 | 330 | 0.0030 | 246 | c.691 others(261): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(239): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0016 | 1 | 270 | 0.0037 | 246 | c.178 others(263): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(239): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01081.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0007a0001c0007t0007a0002c0005t0002 | a0001c0001t0007g0033a0001c0001t0007g0040a0001c0001t0007g0053others(3): Show | 6 | 270 | 0.0222 | 246 | c.178 others(263): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 5131645 | G | GGGGCAGG others(239): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 | 1 | 270 | 0.0037 | 246 | c.178 others(263): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KIAA0232_chr4_6777727_6889164 | 6880328 | T | TGTACTGT others(239): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044a0001c0001t0002g0045 | 2 | 362 | 0.0055 | 246 | c.400 others(263): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| KIAA0930_chr22_45187244_45245894 | 45229320 | T | TCCCCACC others(239): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0138 | 1 | 398 | 0.0025 | 246 | c.64+ others(263): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(239): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18612.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0051a0002c0003t0001g0052 | 2 | 414 | 0.0048 | 246 | c.480 others(261): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(239): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 375 | 0.0027 | 246 | c.-19 others(257): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
| KIF26A_chr14_104133587_104185894 | 104185761 | A | ATGGGGTG others(239): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0010 | a0010c0022 | a0010c0022t0011 | a0010c0022t0011g0091a0010c0022t0011g0092 | 2 | 374 | 0.0054 | 246 | c.*59 others(257): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4868 | chr14 | TogoVar | ||||||
| KIF26A_chr14_104133587_104185894 | 104185779 | A | ATGGGGTG others(239): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0092 | a0001c0092t0011 | a0001c0092t0011g0225 | 1 | 374 | 0.0027 | 246 | c.*59 others(257): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4886 | chr14 | TogoVar | ||||||
| KLHL18_chr3_47277944_47351816 | 47316734 | T | TACATATA others(239): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 338 | 0.0030 | 246 | c.130 others(263): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KRT82_chr12_52388931_52411335 | 52409043 | C | CCTCCTCT others(239): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0076 | 1 | 370 | 0.0027 | 246 | c.-27 others(257): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2709 | chr12 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(239): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 308 | 0.0033 | 246 | c.*66 others(257): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGTA others(239): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 260 | 0.0039 | 246 | c.624 others(263): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(239): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 414 | 0.0024 | 246 | c.171 others(263): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
| LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(239): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01123.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 8 | 334 | 0.0240 | 246 | c.-31 others(257): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | ||||||
| LOC128125818_chr4_6059977_6075162 | 6067579 | G | GCACTCAA others(239): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0075a0001c0001t0000g0076a0001c0001t0000g0203 | 3 | 462 | 0.0065 | 246 | c.106 others(263): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
| LRMDA_chr10_75426624_76565168 | 75672589 | C | CCCTTCCC others(239): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0020 | 1 | 46 | 0.0217 | 246 | c.131 others(267): Show |
LRMDA | ENSG00000148655.16 | transcript | ENST00000611255.5 | protein_coding | 2/6 | chr10 | TogoVar | ||||||
| LRP1B_chr2_140226423_142136016 | 141530583 | C | CAGAACAG others(239): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0013 | 1 | 28 | 0.0357 | 246 | c.206 others(265): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 2/90 | chr2 | TogoVar | ||||||
| LRRC74A_chr14_76821408_76875304 | 76867095 | T | TGGGGGGT others(239): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 408 | 0.0025 | 246 | c.130 others(263): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| LYPD8_chr1_248734415_248760759 | 248742355 | C | CGGGGAGG others(239): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 374 | 0.0027 | 246 | c.476 others(263): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1930159 | C | CCCCACTG others(239): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 264 | 0.0038 | 246 | c.180 others(265): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1940974 | C | CCCTCCTC others(239): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 264 | 0.0038 | 246 | c.159 others(265): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1940974 | C | CCCTCCTC others(239): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 264 | 0.0038 | 246 | c.159 others(265): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1940974 | C | CCCTCCTC others(239): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 264 | 0.0038 | 246 | c.159 others(265): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1333787 | C | CCATGTGC others(239): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 388 | 0.0026 | 246 | c.765 others(261): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MCC_chr5_113017106_113493453 | 113333864 | T | TATATGTA others(239): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 160 | 0.0063 | 246 | c.627 others(263): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113011630 | T | TGGACGGT others(239): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01517.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0019others(4): Show | a0001c0001t0003g0099a0001c0001t0006g0108a0001c0001t0019g0107others(4): Show | 7 | 116 | 0.0603 | 246 | c.80- others(261): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MCF2L_chr13_112964214_113104742 | 113011728 | G | GGTGTGGA others(239): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 116 | 0.0086 | 246 | c.80- others(261): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MCUB_chr4_109555246_109693719 | 109597335 | A | AGACGGGG others(239): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 336 | 0.0030 | 246 | c.99+ others(263): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MED16_chr19_862963_898187 | 871896 | A | AGGGGCGG others(239): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0012 | 1 | 56 | 0.0179 | 246 | c.209 others(261): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(239): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0005 | a0005c0005 | a0005c0005t0048 | a0005c0005t0048g0127 | 1 | 292 | 0.0034 | 246 | c.377 others(263): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(239): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 181 | 0.0055 | 246 | c.107 others(265): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(239): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 181 | 0.0055 | 246 | c.107 others(265): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(239): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 181 | 0.0055 | 246 | c.107 others(265): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237517022 | T | TGGATAGG others(239): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0101 | 1 | 286 | 0.0035 | 246 | c.446 others(263): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237543283 | G | GGGGACAG others(239): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0182 | 1 | 286 | 0.0035 | 246 | c.153 others(263): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588899 | A | ACATATAT others(239): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0010 | a0010c0011 | a0010c0011t0003 | a0010c0011t0003g0261 | 1 | 364 | 0.0028 | 246 | c.394 others(261): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64178470 | G | GCAGAGCC others(239): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0098 | 1 | 223 | 0.0045 | 246 | c.-98 others(265): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(239): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0089 | 2 | 223 | 0.0090 | 246 | c.289 others(263): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(239): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0009 | 1 | 223 | 0.0045 | 246 | c.289 others(263): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(239): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 384 | 0.0026 | 246 | c.-41 others(257): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar |