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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCEMP1_chr19_7672090_7684829 | 7674859 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02155.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0024others(3): Show | 13 | 448 | 0.0290 | 20 | c.-22 others(31): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 2230 | chr19 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183175989 | T | TATCCATC others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00735.hp1 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0016a0002c0002others(5): Show | a0001c0001t0001a0001c0016t0011a0001c0016t0025others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0037others(17): Show | 20 | 176 | 0.1136 | 20 | c.*33 others(31): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 2051 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183178470 | A | AAAATAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03130.hp2 others(1): Show |
a0004a0016a0026 | a0004c0004a0016c0015a0026c0030 | a0004c0004t0004a0016c0015t0004a0026c0030t0004 | a0004c0004t0004g0052a0016c0015t0004g0125a0016c0015t0004g0151others(1): Show | 4 | 176 | 0.0227 | 20 | c.*89 others(29): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 30/30 | 909 | chr3 | TogoVar | |||||
MCF2L2_chr3_183173041_183433619 | 183228026 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01952.hp1 HG02683.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0004c0004t0002 | a0001c0001t0001g0081a0001c0001t0001g0086a0001c0001t0001g0114others(3): Show | 6 | 176 | 0.0341 | 20 | c.211 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 18/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183228028 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0033a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0037others(52): Show | 55 | 176 | 0.3125 | 20 | c.211 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 18/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183269230 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02155.hp1 HG02155.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0002a0003c0003t0003a0004c0004t0001others(2): Show | a0001c0001t0002g0122a0003c0003t0003g0012a0004c0004t0001g0072others(3): Show | 6 | 176 | 0.0341 | 20 | c.186 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183297642 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 176 | 0.0057 | 20 | c.130 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183297642 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp1 others(15): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0076a0001c0001t0002g0122others(15): Show | 18 | 176 | 0.1023 | 20 | c.130 others(37): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCAC others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0004 | a0004c0004t0023 | a0004c0004t0023g0169 | 1 | 176 | 0.0057 | 20 | c.130 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(16): Show |
a0002a0006a0011others(2): Show | a0002c0002a0006c0006a0011c0014others(2): Show | a0002c0002t0001a0002c0002t0002a0006c0006t0003others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0011a0002c0002t0001g0056others(16): Show | 19 | 176 | 0.1080 | 20 | c.130 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(13): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02735.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006a0002c0002t0001g0062 | 2 | 176 | 0.0114 | 20 | c.130 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183361102 | C | CAAGACAA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02622.hp1 HG02647.hp2 others(3): Show |
a0002a0004a0013others(2): Show | a0002c0002a0004c0004a0013c0013others(2): Show | a0002c0002t0001a0002c0002t0002a0004c0004t0002others(3): Show | a0002c0002t0001g0020a0002c0002t0002g0017a0004c0004t0002g0013others(3): Show | 6 | 176 | 0.0341 | 20 | c.275 others(39): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113011626 | G | GGTGTGGA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0025 | a0001c0001t0007g0017a0001c0005t0025g0016 | 2 | 116 | 0.0172 | 20 | c.80- others(35): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113034864 | G | GGAGGTGA others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 116 | 0.0086 | 20 | c.278 others(39): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113040412 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02559.hp1 |
a0001a0005 | a0001c0001a0001c0003a0005c0014 | a0001c0001t0028a0001c0003t0001a0005c0014t0024 | a0001c0001t0028g0098a0001c0003t0001g0073a0005c0014t0024g0100 | 3 | 116 | 0.0259 | 20 | c.279 others(37): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2_chrX_139576770_139713167 | 139709615 | C | CATATATA others(13): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 249 | 0.0040 | 20 | c.-15 others(31): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1449 | chrX | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139710410 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0119 | 2 | 249 | 0.0080 | 20 | c.-23 others(31): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 2244 | chrX | TogoVar | ||||||
MCHR1_chr22_40674484_40687812 | 40686061 | A | ATATTTAT others(13): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 20 | c.*41 others(31): Show |
MCHR1 | ENSG00000128285.5 | transcript | ENST00000249016.5 | protein_coding | 3250 | chr22 | TogoVar | ||||||
MCIDAS_chr5_55214564_55232315 | 55214929 | C | CTTTTATT others(13): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 386 | 0.0026 | 20 | c.*54 others(31): Show |
MCIDAS | ENSG00000234602.9 | transcript | ENST00000513312.3 | protein_coding | 4634 | chr5 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13157650 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 432 | 0.0023 | 20 | c.-40 others(31): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 3907 | chr10 | TogoVar | ||||||
MCM10_chr10_13156558_13216110 | 13166647 | A | AATACATA others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 432 | 0.0023 | 20 | c.7+2 others(33): Show |
MCM10 | ENSG00000065328.17 | transcript | ENST00000378714.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCM3AP_chr21_46230133_46290611 | 46258737 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0318 | 1 | 360 | 0.0028 | 20 | c.373 others(37): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 16/27 | chr21 | TogoVar | ||||||
MCM6_chr2_135834626_135881443 | 135863723 | T | TAACAAAA others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 394 | 0.0025 | 20 | c.107 others(37): Show |
MCM6 | ENSG00000076003.5 | transcript | ENST00000264156.3 | protein_coding | 7/16 | chr2 | TogoVar | ||||||
MCM8_chr20_5945652_6003977 | 5953438 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0008 | a0008c0011 | a0008c0011t0142 | a0008c0011t0142g0261 | 1 | 366 | 0.0027 | 20 | c.253 others(35): Show |
MCM8 | ENSG00000125885.13 | transcript | ENST00000610722.4 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MCM8_chr20_5945652_6003977 | 5994478 | G | GACACACA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0182 | 1 | 366 | 0.0027 | 20 | c.*11 others(29): Show |
MCM8 | ENSG00000125885.13 | transcript | ENST00000610722.4 | protein_coding | 19/19 | 133 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
MCMDC2_chr8_66865771_66927048 | 66902711 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0005 | 2 | 202 | 0.0099 | 20 | c.176 others(39): Show |
MCMDC2 | ENSG00000178460.18 | transcript | ENST00000422365.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01256.hp1 HG01346.hp2 others(17): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0018others(8): Show | 20 | 414 | 0.0483 | 20 | c.-41 others(31): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 20 | c.-41 others(31): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG02258.hp1 NA18747.hp2 others(1): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0011c0015t0001 | a0001c0001t0001g0010a0001c0001t0001g0138a0011c0015t0001g0003 | 4 | 414 | 0.0097 | 20 | c.-41 others(31): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02683.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0002g0325others(2): Show | 5 | 350 | 0.0143 | 20 | c.*42 others(31): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84931115 | A | ACTTACCC others(13): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0144 | 1 | 350 | 0.0029 | 20 | c.154 others(37): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84987577 | C | CATCTATG others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 350 | 0.0029 | 20 | c.77+ others(35): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84996393 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02922.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0053a0002c0002t0001g0052a0004c0004t0001g0040others(1): Show | 4 | 350 | 0.0114 | 20 | c.77+ others(33): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6562552 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0033 | a0001c0033t0004 | a0001c0033t0004g0036 | 1 | 262 | 0.0038 | 20 | c.221 others(41): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCPH1_chr8_6401627_6653508 | 6594676 | C | CCTGCAGG others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 HG02622.hp1 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0016others(11): Show | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(14): Show | a0001c0001t0005g0024a0002c0002t0002g0009a0002c0002t0002g0021others(17): Show | 20 | 262 | 0.0763 | 20 | c.221 others(41): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCPH1_chr8_6401627_6653508 | 6617900 | A | AATCTATC others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG02523.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0008a0004c0006others(2): Show | a0001c0001t0002a0002c0008t0001a0002c0008t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0002g0178a0001c0001t0002g0189others(5): Show | 8 | 262 | 0.0305 | 20 | c.221 others(39): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCRIP1_chr17_81817361_81838291 | 81825961 | T | TGGCCAGC others(13): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 366 | 0.0027 | 20 | c.-48 others(37): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94752108 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18939.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0029 | a0001c0003t0003g0072a0001c0003t0029g0043 | 2 | 98 | 0.0204 | 20 | c.261 others(41): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947555 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0001 | a0001c0001t0027g0036a0001c0002t0001g0075 | 2 | 98 | 0.0204 | 20 | c.982 others(37): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02145.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0007a0002c0005t0004 | a0001c0002t0007g0044a0002c0005t0004g0009 | 2 | 98 | 0.0204 | 20 | c.982 others(37): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0004 | a0001c0001t0004g0011a0002c0005t0004g0010 | 2 | 98 | 0.0204 | 20 | c.982 others(37): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95036911 | T | TTCACTCA others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03704.hp2 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0021 | a0001c0003t0005g0026a0001c0003t0021g0007 | 2 | 98 | 0.0204 | 20 | c.721 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95072081 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0016 | a0001c0016t0023 | a0001c0016t0023g0012 | 1 | 98 | 0.0102 | 20 | c.721 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95104353 | A | AGGTCATA others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02895.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0016a0001c0002t0001a0002c0008t0002 | a0001c0001t0016g0040a0001c0002t0001g0047a0002c0008t0002g0039 | 3 | 98 | 0.0306 | 20 | c.721 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95151130 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0041 | 1 | 98 | 0.0102 | 20 | c.720 others(41): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95207938 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 98 | 0.0102 | 20 | c.720 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95257796 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0039 | a0001c0001t0002g0052a0001c0001t0015g0028a0001c0001t0015g0030others(1): Show | 4 | 98 | 0.0408 | 20 | c.720 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95257796 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02071.hp2 HG02083.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0002g0064a0001c0001t0004g0005a0001c0001t0009g0006others(16): Show | 19 | 98 | 0.1939 | 20 | c.720 others(39): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94257569 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0008 | a0008c0029 | a0008c0029t0004 | a0008c0029t0004g0109 | 1 | 276 | 0.0036 | 20 | c.-66 others(39): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94267869 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0028a0001c0002t0001g0235 | 2 | 276 | 0.0073 | 20 | c.-65 others(39): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |