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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP2_chr15_94226561_94488952 | 94325812 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02683.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0023 | a0001c0001t0001g0197a0001c0010t0023g0266a0001c0010t0023g0267 | 3 | 276 | 0.0109 | 20 | c.637 others(39): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94390098 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02683.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0021 | a0001c0001t0001g0172a0001c0005t0021g0214 | 2 | 276 | 0.0073 | 20 | c.178 others(39): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94485437 | G | GCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02717.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0002g0031a0001c0001t0002g0044a0001c0001t0003g0015others(9): Show | 12 | 276 | 0.0435 | 20 | c.*64 others(31): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1486 | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94485460 | C | CACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02723.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0051a0001c0017t0013 | a0001c0002t0051g0272a0001c0017t0013g0023 | 2 | 276 | 0.0073 | 20 | c.*64 others(31): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1509 | chr15 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109618952 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0128 | 1 | 336 | 0.0030 | 20 | c.100 others(39): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MCUB_chr4_109555246_109693719 | 109619022 | A | ATCTACCT others(13): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0195 | 1 | 336 | 0.0030 | 20 | c.100 others(39): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72714345 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 210 | 0.0048 | 20 | c.150 others(39): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72780511 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0044others(13): Show | 16 | 210 | 0.0762 | 20 | c.151 others(39): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72805101 | C | CTTTCTCT others(13): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 210 | 0.0048 | 20 | c.151 others(39): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72832932 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02451.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0114a0001c0001t0001g0151a0001c0002t0001g0007others(1): Show | 4 | 210 | 0.0191 | 20 | c.151 others(37): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72832934 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01106.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(12): Show | 15 | 210 | 0.0714 | 20 | c.151 others(37): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MDC1_chr6_30694807_30722281 | 30708855 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18956.hp2 NA18995.hp2 |
a0004a0012 | a0004c0004a0012c0014 | a0004c0004t0002a0012c0014t0002 | a0004c0004t0002g0211a0004c0004t0002g0213a0012c0014t0002g0212 | 3 | 413 | 0.0073 | 20 | c.222 others(37): Show |
MDC1 | ENSG00000137337.16 | transcript | ENST00000376406.8 | protein_coding | 7/14 | chr6 | TogoVar | ||||||
MDFIC2_chr3_70189479_70317638 | 70237979 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0343 | 1 | 370 | 0.0027 | 20 | c.89- others(37): Show |
MDFIC2 | ENSG00000242120.4 | transcript | ENST00000567252.2 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
MDFIC_chr7_114917094_115024917 | 114919279 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01928.hp1 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0004a0001c0001t0006g0222a0001c0001t0007g0229others(3): Show | 6 | 334 | 0.0180 | 20 | c.-34 others(31): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 2814 | chr7 | TogoVar | ||||||
MDFIC_chr7_114917094_115024917 | 114929084 | G | GATCTATC others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 HG01255.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0130a0001c0001t0002g0044a0001c0001t0002g0203others(20): Show | 23 | 334 | 0.0689 | 20 | c.94+ others(35): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MDFI_chr6_41633468_41659244 | 41643548 | G | GGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0015others(28): Show | 47 | 462 | 0.1017 | 20 | c.77- others(35): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MDFI_chr6_41633468_41659244 | 41643576 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0076a0001c0001t0001g0108others(2): Show | 7 | 462 | 0.0152 | 20 | c.77- others(35): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MDFI_chr6_41633468_41659244 | 41643576 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0008 | a0001c0001t0001g0299a0003c0005t0008g0317 | 2 | 462 | 0.0043 | 20 | c.77- others(35): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MDFI_chr6_41633468_41659244 | 41656204 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 462 | 0.0022 | 20 | c.*26 others(31): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 1961 | chr6 | TogoVar | ||||||
MDFI_chr6_41633468_41659244 | 41656230 | A | ACACACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 462 | 0.0022 | 20 | c.*26 others(31): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 1987 | chr6 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37664600 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG02148.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0019others(5): Show | a0001c0002t0001g0103a0001c0002t0003g0160a0001c0002t0019g0279others(6): Show | 9 | 402 | 0.0224 | 20 | c.68- others(33): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37664842 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0339 | 1 | 402 | 0.0025 | 20 | c.68- others(33): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 46929601 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 120 | 0.0083 | 20 | c.209 others(39): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 46938540 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 120 | 0.0083 | 20 | c.209 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47370468 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0103 | 1 | 120 | 0.0083 | 20 | c.281 others(39): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47383983 | T | TGATAGAT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0050a0001c0001t0001g0101a0001c0001t0002g0106others(2): Show | 5 | 120 | 0.0417 | 20 | c.281 others(39): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47461269 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020 | a0001c0001t0008g0012a0001c0001t0020g0029 | 2 | 120 | 0.0167 | 20 | c.281 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47508352 | A | ACTCTCTC others(13): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 120 | 0.0083 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47540540 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 120 | 0.0083 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47540540 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 120 | 0.0083 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47540540 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0011 | a0001c0001t0012g0017a0001c0001t0012g0019a0002c0002t0011g0020 | 3 | 120 | 0.0250 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47540540 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001a0001c0001t0004g0015 | 2 | 120 | 0.0167 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47540540 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0064 | 1 | 120 | 0.0083 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47549343 | A | ATCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04199.hp1 NA18993.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0003a0004c0003t0003 | a0001c0001t0001g0043a0001c0001t0003g0038a0004c0003t0003g0035 | 3 | 120 | 0.0250 | 20 | c.280 others(41): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47609428 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 120 | 0.0083 | 20 | c.280 others(39): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47609428 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01358.hp2 HG02895.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0086a0001c0001t0002g0075others(6): Show | 9 | 120 | 0.0750 | 20 | c.280 others(39): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
MDM2_chr12_68803177_68850544 | 68847452 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0203 | 1 | 388 | 0.0026 | 20 | c.*76 others(31): Show |
MDM2 | ENSG00000135679.27 | transcript | ENST00000258149.11 | protein_coding | 1909 | chr12 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89670139 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0044 | a0044c0059 | a0044c0059t0001 | a0044c0059t0001g0023 | 1 | 290 | 0.0035 | 20 | c.139 others(39): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89670170 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0232 | 1 | 290 | 0.0035 | 20 | c.139 others(39): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89734690 | C | CGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01261.hp2 others(14): Show |
a0001a0007 | a0001c0001a0001c0007a0001c0048others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0048t0001others(1): Show | a0001c0001t0001g0080a0001c0001t0001g0128a0001c0001t0001g0158others(14): Show | 17 | 290 | 0.0586 | 20 | c.472 others(39): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 33/101 | chr6 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89746611 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 NA20129.hp1 |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0143a0004c0009t0001g0224 | 2 | 290 | 0.0069 | 20 | c.390 others(37): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 27/101 | chr6 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89809784 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02074.hp1 others(12): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0007a0003c0003others(5): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0080a0001c0001t0001g0128a0001c0001t0001g0158others(12): Show | 15 | 290 | 0.0517 | 20 | c.103 others(37): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 1/101 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83237227 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03017.hp2 others(17): Show |
a0001a0003 | a0001c0002a0001c0010a0003c0013 | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(3): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0009others(17): Show | 20 | 272 | 0.0735 | 20 | c.102 others(37): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83237276 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0202 | 1 | 272 | 0.0037 | 20 | c.102 others(37): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83238797 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0076others(1): Show | 4 | 272 | 0.0147 | 20 | c.912 others(35): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 8/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83283227 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18972.hp2 NA18973.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001a0001c0002t0006 | a0001c0001t0010g0228a0001c0002t0001g0033a0001c0002t0006g0269 | 3 | 272 | 0.0110 | 20 | c.705 others(39): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83298931 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19079.hp1 |
a0001a0002 | a0001c0010a0002c0004 | a0001c0010t0005a0002c0004t0005 | a0001c0010t0005g0219a0002c0004t0005g0214 | 2 | 272 | 0.0074 | 20 | c.704 others(39): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83357935 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 272 | 0.0037 | 20 | c.363 others(37): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83357935 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 272 | 0.0037 | 20 | c.363 others(37): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
ME1_chr6_83205402_83436051 | 83376804 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00733.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0064others(34): Show | 37 | 272 | 0.1360 | 20 | c.362 others(39): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 3/13 | chr6 | TogoVar |