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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLC1_chr8_13078361_13519851 | 13120356 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 |
a0001a0013 | a0001c0001a0013c0025 | a0001c0001t0001a0013c0025t0006 | a0001c0001t0001g0090a0013c0025t0006g0024 | 2 | 212 | 0.0094 | 23 | c.134 others(42): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13120356 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01081.hp2 others(9): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0039others(2): Show | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0115others(9): Show | 12 | 212 | 0.0566 | 23 | c.134 others(42): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13128901 | T | TAATTATG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0006a0001c0001t0001g0047a0001c0001t0001g0059others(203): Show | 206 | 212 | 0.9717 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13219380 | T | TTACATTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(111): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0011others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(62): Show | a0001c0001t0001g0006a0001c0001t0001g0059a0001c0001t0001g0069others(111): Show | 114 | 212 | 0.5377 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13219385 | T | TTTCATAT others(16): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0087 | 1 | 212 | 0.0047 | 23 | c.134 others(44): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13297282 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03492.hp1 NA18970.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0003a0001c0004t0016others(2): Show | a0001c0001t0001g0111a0001c0004t0003g0125a0001c0004t0016g0051others(2): Show | 5 | 212 | 0.0236 | 23 | c.134 others(42): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127457 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0263 | 1 | 332 | 0.0030 | 23 | c.116 others(42): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197158634 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0256 | 1 | 332 | 0.0030 | 23 | c.484 others(40): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197231929 | A | ACTGTGAC others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp2 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0001t0001g0100others(61): Show | 64 | 332 | 0.1928 | 23 | c.319 others(42): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84307695 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 14 | 0.0714 | 23 | c.520 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84506079 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | 23 | c.519 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84624857 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | 23 | c.358 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85122959 | A | ATTATATA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 14 | 0.0714 | 23 | c.283 others(42): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 5/27 | chr11 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7207719 | A | ACAGCACA others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0154a0001c0001t0155 | a0001c0001t0154g0331a0001c0001t0155g0330 | 2 | 376 | 0.0053 | 23 | c.96+ others(36): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3720888 | C | CCAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03516.hp2 NA20300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0008a0001c0003t0033others(1): Show | a0001c0001t0004g0016a0001c0002t0008g0037a0001c0003t0033g0077others(1): Show | 4 | 80 | 0.0500 | 23 | c.159 others(42): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3741020 | C | CCACCACC others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044a0001c0001t0002g0017a0001c0001t0002g0047others(12): Show | 15 | 80 | 0.1875 | 23 | c.135 others(42): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4082510 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0065 | 1 | 80 | 0.0125 | 23 | c.-15 others(44): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 748118 | G | GCGGGTCT others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | 23 | c.18+ others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 881666 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | 23 | c.19- others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 960237 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02258.hp2 HG02818.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0002t0002g0021a0001c0003t0001g0025a0001c0003t0006g0033others(3): Show | 6 | 40 | 0.1500 | 23 | c.73+ others(40): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 266 | 0.0038 | 23 | c.-51 others(38): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0008 | a0006c0008t0027 | a0006c0008t0027g0070 | 1 | 144 | 0.0069 | 23 | c.260 others(40): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501215 | T | TTCCTTCC others(16): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0113 | 1 | 430 | 0.0023 | 23 | c.-12 others(40): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38531885 | A | ATTAATTC others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0016a0001c0001t0002g0017others(1): Show | 4 | 324 | 0.0124 | 23 | c.836 others(40): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0261 | 2 | 324 | 0.0062 | 23 | c.327 others(40): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0091 | 1 | 126 | 0.0079 | 23 | c.105 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31816822 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0025 | a0025c0039 | a0025c0039t0003 | a0025c0039t0003g0075 | 1 | 126 | 0.0079 | 23 | c.730 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 50/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT others(16): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 126 | 0.0079 | 23 | c.720 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31961740 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | 23 | c.661 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31961742 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02647.hp1 HG02922.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0005a0002c0012others(3): Show | a0001c0002t0002a0002c0005t0007a0002c0012t0002others(4): Show | a0001c0002t0002g0056a0002c0005t0007g0092a0002c0012t0002g0098others(4): Show | 7 | 126 | 0.0556 | 23 | c.661 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32050974 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0027 | a0001c0001t0002g0024a0003c0003t0027g0091 | 2 | 126 | 0.0159 | 23 | c.643 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32132993 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 |
a0002a0017 | a0002c0059a0017c0027 | a0002c0059t0012a0017c0027t0001 | a0002c0059t0012g0055a0017c0027t0001g0124 | 2 | 126 | 0.0159 | 23 | c.643 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280144 | G | GTATATAT others(16): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0100 | 1 | 126 | 0.0079 | 23 | c.629 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32292302 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18965.hp1 |
a0004a0036 | a0004c0004a0036c0021 | a0004c0004t0001a0036c0021t0017 | a0004c0004t0001g0087a0036c0021t0017g0009 | 2 | 126 | 0.0159 | 23 | c.611 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0036 | a0036c0021 | a0036c0021t0017 | a0036c0021t0017g0009 | 1 | 126 | 0.0079 | 23 | c.592 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32385620 | T | TAATTTTA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(96): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0022others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(65): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(96): Show | 99 | 126 | 0.7857 | 23 | c.467 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 33/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0022 | a0022c0025 | a0022c0025t0006 | a0022c0025t0006g0108 | 1 | 126 | 0.0079 | 23 | c.133 others(44): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32777276 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0017 | 1 | 126 | 0.0079 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGCGGGG others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0020 | a0002c0020t0028 | a0002c0020t0028g0010 | 1 | 126 | 0.0079 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18747.hp1 NA19085.hp1 |
a0001a0003 | a0001c0001a0003c0062 | a0001c0001t0001a0001c0001t0013a0003c0062t0001 | a0001c0001t0001g0090a0001c0001t0013g0012a0003c0062t0001g0078 | 3 | 126 | 0.0238 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32777277 | T | TGGGGGGG others(16): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 126 | 0.0079 | 23 | c.649 others(42): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32939204 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | 23 | c.93+ others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 126 | 0.0079 | 23 | c.93+ others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0303a0001c0001t0004g0304 | 2 | 306 | 0.0065 | 23 | c.354 others(36): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 324 | 0.0031 | 23 | c.836 others(38): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132669940 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0011 | a0008c0011t0009 | a0008c0011t0009g0031 | 1 | 276 | 0.0036 | 23 | c.10+ others(38): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0190a0001c0001t0003g0191a0001c0001t0003g0192others(10): Show | 13 | 456 | 0.0285 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTTTTT others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 | 1 | 456 | 0.0022 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01074.hp2 others(47): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0008a0002c0002others(9): Show | a0001c0001t0002a0001c0008t0001a0002c0002t0001others(10): Show | a0001c0001t0002g0269a0001c0001t0002g0271a0001c0001t0002g0272others(47): Show | 50 | 456 | 0.1097 | 23 | c.125 others(38): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55170873 | T | TCTCTCTC others(16): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp2 NA18943.hp1 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002a0003c0002t0001g0006a0003c0002t0001g0008others(2): Show | 6 | 398 | 0.0151 | 23 | c.-43 others(34): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4261 | chr19 | TogoVar |