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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP1_chr5_94698690_95290094 | 94940913 | ATAAAACA others(21): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0005a0001c0002t0001a0001c0006t0034others(1): Show | a0001c0001t0005g0046a0001c0002t0001g0047a0001c0006t0034g0055others(1): Show | 4 | 98 | 0.0408 | -28 | c.106 others(45): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 4/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95201464 | GTTTTTTT others(21): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG03098.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0013a0001c0002t0012others(1): Show | a0001c0001t0004g0005a0001c0001t0013g0050a0001c0002t0012g0071others(1): Show | 4 | 98 | 0.0408 | -28 | c.720 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94244128 | GTATACAC others(21): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0036 | 1 | 276 | 0.0036 | -28 | c.-66 others(47): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94257566 | GTTGTTTT others(21): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0177a0001c0001t0003g0180a0001c0001t0011g0058others(4): Show | 7 | 276 | 0.0254 | -28 | c.-66 others(47): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94390062 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 276 | 0.0036 | -28 | c.178 others(47): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94430393 | TCACACAC others(21): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0171 | 1 | 276 | 0.0036 | -28 | c.208 others(47): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72804017 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0054a0001c0001t0001g0082a0001c0001t0001g0124others(11): Show | 14 | 210 | 0.0667 | -28 | c.151 others(47): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72805101 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02559.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0150a0001c0001t0001g0192a0003c0004t0001g0149 | 3 | 210 | 0.0143 | -28 | c.151 others(47): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MDGA1_chr6_37625679_37702883 | 37664842 | GACACACA others(21): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0042 | 1 | 402 | 0.0025 | -28 | c.68- others(41): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37698156 | TTCTCTTT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02083.hp2 HG02486.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0001t0022a0001c0001t0030others(5): Show | a0001c0001t0007g0018a0001c0001t0022g0013a0001c0001t0022g0014others(8): Show | 11 | 402 | 0.0274 | -28 | c.-13 others(39): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 274 | chr6 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 46929595 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0011 | a0002c0002t0009g0104a0002c0002t0011g0020 | 2 | 120 | 0.0167 | -28 | c.209 others(47): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 46933799 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0091a0001c0001t0017g0011 | 2 | 120 | 0.0167 | -28 | c.209 others(49): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47102364 | GAAACACA others(21): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0025 | 1 | 120 | 0.0083 | -28 | c.926 others(45): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 5/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47155885 | CTTCTTTT others(21): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 120 | 0.0083 | -28 | c.596 others(47): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046274 | CTGTGTGT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG03490.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0013others(3): Show | 12 | 398 | 0.0302 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1831 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046313 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG02148.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0002a0003c0003t0002 | a0001c0001t0003g0005a0001c0001t0003g0017a0002c0002t0002g0004others(3): Show | 6 | 398 | 0.0151 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1792 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046315 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 398 | 0.0025 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1790 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046317 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01928.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001a0002c0002t0002g0124 | 2 | 398 | 0.0050 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1788 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046319 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0107 | 3 | 398 | 0.0075 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1786 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046321 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01175.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(12): Show | 19 | 398 | 0.0477 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1784 | chr7 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76046323 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0173 | 1 | 398 | 0.0025 | -28 | c.-18 others(39): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1782 | chr7 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83369653 | GAGGAAGG others(21): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(25): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(25): Show | 28 | 272 | 0.1029 | -28 | c.363 others(47): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169183761 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01081.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0003g0032others(22): Show | 25 | 160 | 0.1563 | -28 | c.376 others(47): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169186374 | AAGGAAGG others(21): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0014 | a0005c0014t0019 | a0005c0014t0019g0012 | 1 | 160 | 0.0063 | -28 | c.376 others(47): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169186378 | AAGGGAGG others(21): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0088 | 1 | 160 | 0.0063 | -28 | c.376 others(47): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169212633 | AATGTATA others(21): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 160 | 0.0063 | -28 | c.376 others(47): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378442 | AAAGAAAG others(21): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0110 | 1 | 160 | 0.0063 | -28 | c.375 others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378446 | AAAGAAGG others(21): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0070a0002c0002t0001g0046 | 2 | 160 | 0.0125 | -28 | c.375 others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378470 | CAAGCAAG others(21): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02015.hp2 HG04228.hp2 |
a0002a0006 | a0002c0002a0006c0015 | a0002c0002t0042a0002c0002t0043a0006c0015t0022 | a0002c0002t0042g0117a0002c0002t0043g0126a0006c0015t0022g0001 | 3 | 160 | 0.0188 | -28 | c.375 others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169477097 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 |
a0001a0002 | a0001c0004a0002c0010 | a0001c0004t0001a0002c0010t0014 | a0001c0004t0001g0059a0002c0010t0014g0149 | 2 | 160 | 0.0125 | -28 | c.38- others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169477101 | GTGTGTAT others(21): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0120 | 1 | 160 | 0.0063 | -28 | c.38- others(45): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MED14_chrX_40643305_40740542 | 40706782 | TTTCTGTT others(21): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017a0001c0002t0001g0023 | 2 | 251 | 0.0080 | -28 | c.128 others(47): Show |
MED14 | ENSG00000180182.11 | transcript | ENST00000324817.6 | protein_coding | 10/30 | chrX | TogoVar | ||||||
MED16_chr19_862963_898187 | 892874 | AGCCCCGA others(21): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0051 | 1 | 56 | 0.0179 | -28 | c.-19 others(43): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 892881 | AGCCCCGC others(21): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 56 | 0.0179 | -28 | c.-19 others(43): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
MED17_chr11_93779282_93819963 | 93818195 | CTTGGCAG others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0133 | 1 | 320 | 0.0031 | -28 | c.*61 others(39): Show |
MED17 | ENSG00000042429.12 | transcript | ENST00000251871.9 | protein_coding | 3233 | chr11 | TogoVar | ||||||
MED28_chr4_17609641_17639105 | 17632043 | ATTTTTTT others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG02257.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0121a0001c0001t0145others(2): Show | a0001c0001t0039g0001a0001c0001t0121g0006a0001c0001t0145g0001others(2): Show | 6 | 328 | 0.0183 | -28 | c.*82 others(39): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 4/4 | 8262 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
MEF2A_chr15_99560984_99721488 | 99712025 | GGAGCAGA others(21): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0124 | a0001c0001t0124g0371 | 1 | 376 | 0.0027 | -28 | c.113 others(45): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF10_chr5_127285796_127466222 | 127325826 | AGTATATA others(21): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0002a0001c0021 | a0001c0002t0003a0001c0021t0003 | a0001c0002t0003g0172a0001c0002t0003g0173a0001c0021t0003g0174others(1): Show | 4 | 268 | 0.0149 | -28 | c.-18 others(45): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MEGF10_chr5_127285796_127466222 | 127391094 | GCGCGCGC others(21): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079 | 1 | 268 | 0.0037 | -28 | c.413 others(45): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MEGF11_chr15_65890299_66258750 | 65958417 | CTGATCCA others(21): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0009a0001c0001t0005g0133a0002c0002t0005g0132 | 3 | 176 | 0.0171 | -28 | c.111 others(45): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 9/25 | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3504101 | ATGGCCCC others(21): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02965.hp2 others(2): Show |
a0027a0039a0045others(1): Show | a0027c0036a0039c0056a0045c0124others(1): Show | a0027c0036t0026a0027c0036t0027a0039c0056t0062others(2): Show | a0027c0036t0026g0245a0027c0036t0027g0204a0039c0056t0062g0268others(2): Show | 5 | 292 | 0.0171 | -28 | c.218 others(47): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3585023 | TGTGAGTG others(21): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0062 | a0062c0092 | a0062c0092t0022 | a0062c0092t0022g0186 | 1 | 292 | 0.0034 | -28 | c.377 others(45): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77684252 | AATTTTGT others(21): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 360 | 0.0028 | -28 | c.-14 others(45): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEIKIN_chr5_131801990_131950663 | 131885341 | AAGAGAGA others(21): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01981.hp1 HG02055.hp2 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0001a0001c0002t0001g0203a0001c0002t0001g0231others(14): Show | 19 | 346 | 0.0549 | -28 | c.704 others(45): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 8/12 | chr5 | TogoVar | ||||||
MEIS2_chr15_36884204_37105549 | 37092696 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 274 | 0.0037 | -28 | c.639 others(43): Show |
MEIS2 | ENSG00000134138.22 | transcript | ENST00000561208.6 | protein_coding | 6/11 | chr15 | TogoVar | ||||||
MEP1A_chr6_46788389_46844778 | 46797903 | CTTCCTTC others(21): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01106.hp2 others(23): Show |
a0001a0006a0017 | a0001c0001a0006c0005a0017c0014 | a0001c0001t0001a0006c0005t0003a0017c0014t0001 | a0001c0001t0001g0160a0001c0001t0001g0233a0001c0001t0001g0234others(23): Show | 26 | 352 | 0.0739 | -28 | c.146 others(43): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46807561 | AAAGAAAG others(21): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG03654.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0180a0001c0001t0001g0190a0003c0003t0003g0064others(2): Show | 5 | 352 | 0.0142 | -28 | c.263 others(45): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1A_chr6_46788389_46844778 | 46807596 | GGAAGGAA others(21): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01884.hp2 others(9): Show |
a0004a0005a0006others(2): Show | a0004c0004a0005c0008a0006c0005others(2): Show | a0004c0004t0002a0005c0008t0003a0006c0005t0003others(3): Show | a0004c0004t0002g0001a0004c0004t0002g0142a0004c0004t0002g0144others(8): Show | 12 | 352 | 0.0341 | -28 | c.263 others(45): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEP1B_chr18_32185039_32225404 | 32215969 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG01433.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0006t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0160a0001c0001t0001g0163others(11): Show | 16 | 350 | 0.0457 | -28 | c.175 others(45): Show |
MEP1B | ENSG00000141434.12 | transcript | ENST00000269202.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MESP1_chr15_89744875_89756249 | 89746714 | CACACACA others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18950.hp2 NA19074.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 | 2 | 428 | 0.0047 | -28 | c.*34 others(39): Show |
MESP1 | ENSG00000166823.6 | transcript | ENST00000300057.5 | protein_coding | 3160 | chr15 | TogoVar |