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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBT1_chr10_122555754_122648736 | 122644119 | G | GCTGTGCG others(25): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0017 | a0017c0040 | a0017c0040t0009 | a0017c0040t0009g0039 | 1 | 282 | 0.0036 | 32 | c.*72 others(41): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 384 | chr10 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501192 | C | CCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0084a0001c0002t0004g0085a0001c0002t0004g0114 | 3 | 430 | 0.0070 | 32 | c.-12 others(49): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501213 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0120 | 1 | 430 | 0.0023 | 32 | c.-12 others(49): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501213 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 HG04204.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0030a0001c0007t0003 | a0001c0002t0030g0126a0001c0007t0003g0142 | 2 | 430 | 0.0047 | 32 | c.-12 others(49): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501213 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0151a0001c0002t0003g0156 | 2 | 430 | 0.0047 | 32 | c.-12 others(49): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0299a0001c0001t0002g0300 | 2 | 324 | 0.0062 | 32 | c.327 others(49): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31341891 | G | GCGCGCGC others(25): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02698.hp1 |
a0004a0013 | a0004c0004a0013c0015 | a0004c0004t0001a0013c0015t0001 | a0004c0004t0001g0041a0013c0015t0001g0030 | 2 | 126 | 0.0159 | 32 | c.916 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02717.hp1 HG03130.hp1 others(1): Show |
a0001a0008a0010others(1): Show | a0001c0002a0008c0010a0010c0051others(1): Show | a0001c0002t0001a0008c0010t0009a0010c0051t0011others(1): Show | a0001c0002t0001g0115a0008c0010t0009g0004a0010c0051t0011g0121others(1): Show | 4 | 126 | 0.0318 | 32 | c.908 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31425708 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02015.hp1 others(13): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0004c0004others(9): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(10): Show | a0001c0001t0001g0037a0001c0001t0016g0038a0001c0002t0001g0104others(13): Show | 16 | 126 | 0.1270 | 32 | c.908 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0093 | 1 | 126 | 0.0079 | 32 | c.821 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0027 | a0027c0058 | a0027c0058t0019 | a0027c0058t0019g0116 | 1 | 126 | 0.0079 | 32 | c.821 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0015 | a0015c0043 | a0015c0043t0001 | a0015c0043t0001g0112 | 1 | 126 | 0.0079 | 32 | c.821 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31628915 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0036 | a0036c0021 | a0036c0021t0017 | a0036c0021t0017g0009 | 1 | 126 | 0.0079 | 32 | c.802 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31951125 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0120 | 1 | 126 | 0.0079 | 32 | c.661 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32298514 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0027 | a0017c0027t0001 | a0017c0027t0001g0124 | 1 | 126 | 0.0079 | 32 | c.611 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0034 | 1 | 126 | 0.0079 | 32 | c.592 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32435275 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 126 | 0.0079 | 32 | c.407 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02602.hp1 HG03017.hp1 others(5): Show |
a0001a0004a0014others(2): Show | a0001c0001a0001c0002a0001c0054others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0054a0001c0002t0001g0058a0001c0002t0003g0113others(5): Show | 8 | 126 | 0.0635 | 32 | c.280 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0004 | a0004c0055 | a0004c0055t0001 | a0004c0055t0001g0007 | 1 | 126 | 0.0079 | 32 | c.160 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32641409 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0036 | 1 | 126 | 0.0079 | 32 | c.133 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32783199 | C | CATATACA others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01515.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0001 | a0001c0002t0002g0056a0002c0005t0001g0040a0002c0005t0001g0049 | 3 | 126 | 0.0238 | 32 | c.649 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | 32 | c.530 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32879014 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0047 | 1 | 126 | 0.0079 | 32 | c.94- others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009500 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp1 HG02055.hp1 others(5): Show |
a0002a0003a0005others(2): Show | a0002c0020a0002c0024a0002c0059others(5): Show | a0002c0020t0028a0002c0024t0011a0002c0059t0012others(5): Show | a0002c0020t0028g0010a0002c0024t0011g0016a0002c0059t0012g0055others(5): Show | 8 | 126 | 0.0635 | 32 | c.93+ others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01261.hp1 HG02698.hp1 others(3): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0006c0006others(3): Show | a0001c0001t0001a0003c0003t0002a0006c0006t0008others(3): Show | a0001c0001t0001g0054a0003c0003t0002g0043a0006c0006t0008g0031others(3): Show | 6 | 126 | 0.0476 | 32 | c.32- others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33108881 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0040 | 1 | 126 | 0.0079 | 32 | c.32- others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33128766 | A | ACTGGACC others(25): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0019 | 1 | 126 | 0.0079 | 32 | c.31+ others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33163618 | C | CTCTATCT others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG03195.hp1 others(1): Show |
a0002a0003a0022others(1): Show | a0002c0059a0003c0008a0022c0025others(1): Show | a0002c0059t0012a0003c0008t0023a0022c0025t0006others(1): Show | a0002c0059t0012g0055a0003c0008t0023g0005a0022c0025t0006g0108others(1): Show | 4 | 126 | 0.0318 | 32 | c.31+ others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(25): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 394 | 0.0025 | 32 | c.-13 others(43): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87148034 | A | AAGTTTGG others(25): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01433.hp1 others(18): Show |
a0001a0008 | a0001c0003a0008c0014 | a0001c0003t0003a0001c0003t0004a0008c0014t0004 | a0001c0003t0003g0008a0001c0003t0003g0012a0001c0003t0003g0018others(7): Show | 21 | 362 | 0.0580 | 32 | c.-46 others(43): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 4418 | chr7 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0193a0001c0002t0001g0035a0001c0002t0004g0215others(1): Show | 4 | 238 | 0.0168 | 32 | c.668 others(51): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173797 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 238 | 0.0042 | 32 | c.668 others(51): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119202891 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0008 | 1 | 238 | 0.0042 | 32 | c.774 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATAGAGA others(25): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 398 | 0.0025 | 32 | c.-18 others(43): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(25): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA19064.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 2 | 398 | 0.0050 | 32 | c.-43 others(43): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433941 | A | ATAATATT others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp2 others(26): Show |
a0001a0004a0005 | a0001c0001a0001c0010a0004c0005others(1): Show | a0001c0001t0001a0001c0010t0001a0004c0005t0003others(2): Show | a0001c0001t0001g0247a0001c0010t0001g0226a0004c0005t0003g0254others(26): Show | 29 | 338 | 0.0858 | 32 | c.104 others(49): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204745 | A | ATTATTTA others(25): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0095 | 6 | 296 | 0.0203 | 32 | c.-19 others(43): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1865 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204793 | A | ATTATTTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0199 | 2 | 296 | 0.0068 | 32 | c.-19 others(43): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1817 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204869 | A | ATTATTTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 296 | 0.0034 | 32 | c.-18 others(43): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1741 | chrX | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911625 | T | TGGGGGGG others(25): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0132 | 1 | 170 | 0.0059 | 32 | c.101 others(51): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911734 | G | GGGGGTCT others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0034 | a0034c0070 | a0034c0070t0001 | a0034c0070t0001g0152 | 1 | 170 | 0.0059 | 32 | c.101 others(53): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0019 | a0019c0003 | a0019c0003t0001 | a0019c0003t0001g0270a0019c0003t0001g0271 | 2 | 298 | 0.0067 | 32 | c.100 others(51): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0150 | a0150c0129 | a0150c0129t0002 | a0150c0129t0002g0074 | 1 | 298 | 0.0034 | 32 | c.100 others(51): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21901273 | C | CTAGCCTC others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02132.hp2 HG03486.hp1 others(4): Show |
a0072a0089a0093others(4): Show | a0072c0046a0089c0162a0093c0105others(4): Show | a0072c0046t0025a0089c0162t0009a0093c0105t0010others(4): Show | a0072c0046t0025g0120a0089c0162t0009g0054a0093c0105t0010g0024others(4): Show | 7 | 298 | 0.0235 | 32 | c.*20 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 52 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0175 | 1 | 266 | 0.0038 | 32 | c.111 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03098.hp1 |
a0011a0027 | a0011c0018a0027c0058 | a0011c0018t0001a0027c0058t0002 | a0011c0018t0001g0010a0011c0018t0001g0058a0027c0058t0002g0037 | 3 | 266 | 0.0113 | 32 | c.997 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACACTAT others(25): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0027 | a0027c0058 | a0027c0058t0002 | a0027c0058t0002g0037 | 1 | 266 | 0.0038 | 32 | c.936 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02717.hp2 others(3): Show |
a0007a0011a0017others(2): Show | a0007c0016a0011c0018a0017c0063others(3): Show | a0007c0016t0001a0011c0018t0001a0017c0063t0001others(3): Show | a0007c0016t0001g0041a0011c0018t0001g0010a0017c0063t0001g0103others(3): Show | 6 | 266 | 0.0226 | 32 | c.936 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp2 HG02647.hp2 others(6): Show |
a0004a0008a0015others(2): Show | a0004c0004a0008c0007a0015c0013others(2): Show | a0004c0004t0001a0008c0007t0001a0015c0013t0001others(2): Show | a0004c0004t0001g0094a0004c0004t0001g0100a0004c0004t0001g0261others(6): Show | 9 | 266 | 0.0338 | 32 | c.730 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTAT others(25): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02135.hp2 HG03239.hp2 |
a0004a0069 | a0004c0004a0069c0073 | a0004c0004t0001a0069c0073t0001 | a0004c0004t0001g0099a0004c0004t0001g0105a0069c0073t0001g0076 | 3 | 266 | 0.0113 | 32 | c.730 others(51): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar |