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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 685161 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02071.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0028a0001c0003t0002g0037 | 2 | 88 | 0.0227 | -28 | c.85+ others(43): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713536 | ATCACCTC others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02258.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018 | a0001c0001t0012g0024a0001c0001t0018g0102 | 4 | 412 | 0.0097 | -28 | c.*36 others(39): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1030 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2714020 | ATCACCTC others(21): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025 | a0001c0001t0017g0043a0001c0001t0025g0044 | 2 | 412 | 0.0049 | -28 | c.*31 others(39): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 546 | chr19 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232000640 | TTCCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 304 | 0.0033 | -28 | c.-93 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232077955 | CTCTTTCT others(21): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02818.hp1 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0005a0006c0012t0001 | a0001c0001t0005g0142a0006c0012t0001g0122 | 2 | 304 | 0.0066 | -28 | c.367 others(45): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232220112 | AAAATAAA others(21): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251a0001c0002t0001g0252 | 2 | 304 | 0.0066 | -28 | c.120 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L_chr15_66288568_66338898 | 66331496 | AGTGAGCC others(21): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 400 | 0.0025 | -28 | c.253 others(45): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 14/16 | chr15 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222936625 | ATCTCTCA others(21): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0001 | 2 | 348 | 0.0058 | -28 | c.-17 others(45): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIXDC1_chr11_111932343_112027653 | 111950426 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0136 | 1 | 278 | 0.0036 | -28 | c.60+ others(45): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DIXDC1_chr11_111932343_112027653 | 111950428 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 278 | 0.0036 | -28 | c.60+ others(45): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DKK2_chr4_106916802_107041313 | 106962491 | ATGTGTGT others(21): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02559.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0080a0001c0001t0001g0085others(5): Show | 8 | 218 | 0.0367 | -28 | c.223 others(47): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
DKK3_chr11_11958036_12013626 | 12010738 | AGAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 416 | 0.0024 | -28 | c.-21 others(39): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 2113 | chr11 | TogoVar | ||||||
DKK3_chr11_11958036_12013626 | 12012655 | TATATACA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 416 | 0.0024 | -28 | c.-41 others(39): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 4030 | chr11 | TogoVar | ||||||
DLAT_chr11_112020408_112069404 | 112036185 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0007 | a0008c0007t0003 | a0008c0007t0003g0199 | 1 | 336 | 0.0030 | -28 | c.788 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DLC1_chr8_13078361_13519851 | 13448831 | GTTATACA others(21): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0059a0001c0001t0001g0069a0001c0001t0001g0071others(35): Show | 38 | 212 | 0.1793 | -28 | c.102 others(49): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13464746 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 212 | 0.0047 | -28 | c.102 others(49): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127439 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 332 | 0.0030 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127441 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02015.hp1 NA18947.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0107 | 3 | 332 | 0.0090 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197127449 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0011 | a0011c0014 | a0011c0014t0004 | a0011c0014t0004g0206 | 1 | 332 | 0.0030 | -28 | c.116 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197147432 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0314 | 1 | 332 | 0.0030 | -28 | c.537 others(45): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 6/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83499850 | GAGATATA others(21): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 14 | 0.0714 | -28 | c.219 others(49): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 21/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83734338 | CCCTTCCT others(21): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 14 | 0.0714 | -28 | c.182 others(49): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85357704 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | -28 | c.41- others(45): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77814461 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0007a0001c0009a0001c0025 | a0001c0007t0025a0001c0009t0006a0001c0025t0003 | a0001c0007t0025g0204a0001c0009t0006g0006a0001c0009t0006g0007others(6): Show | 9 | 331 | 0.0272 | -28 | c.402 others(47): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 20/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3551714 | CCCTCCCT others(21): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0021 | 1 | 80 | 0.0125 | -28 | c.205 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3772342 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0028a0001c0004t0014 | a0001c0001t0004g0016a0001c0003t0028g0036a0001c0004t0014g0058 | 3 | 80 | 0.0375 | -28 | c.117 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3803957 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0008a0001c0001t0003g0071a0001c0001t0004g0016others(7): Show | 10 | 80 | 0.1250 | -28 | c.117 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3833130 | ATTCCTTC others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 80 | 0.0125 | -28 | c.958 others(47): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4099325 | ATCTATCT others(21): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 80 | 0.0125 | -28 | c.-15 others(49): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 967816 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | -28 | c.73+ others(45): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1014835 | TGACCAGG others(21): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1015087 | TGACCAGG others(21): Show |
T | intron_variant | MODIFIER | HG01891.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0014 | a0001c0002t0006g0011a0001c0003t0014g0020 | 2 | 40 | 0.0500 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1015103 | CTCCACTG others(21): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -28 | c.73+ others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1103441 | GTGATGAC others(21): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -28 | c.74- others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1103469 | TTGATGAC others(21): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0017others(4): Show | a0001c0002t0001g0015a0001c0002t0006g0011a0001c0003t0017g0004others(4): Show | 7 | 40 | 0.1750 | -28 | c.74- others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1255550 | CTCCTGCC others(21): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | -28 | c.74- others(43): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36310180 | AAAAGAAA others(21): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0092a0001c0001t0001g0097others(15): Show | 18 | 144 | 0.1250 | -28 | c.-30 others(47): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(21): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01167.hp1 others(22): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0001t0001g0097others(22): Show | 25 | 144 | 0.1736 | -28 | c.-73 others(47): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DMAC1_chr9_7791500_7804778 | 7796332 | CAGAAATC others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0051 | 1 | 474 | 0.0021 | -28 | c.*22 others(39): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 167 | chr9 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31138624 | GGAGAGAG others(21): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | -28 | c.109 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(21): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02486.hp1 HG03209.hp1 |
a0001a0002a0003 | a0001c0001a0002c0026a0003c0003 | a0001c0001t0026a0002c0026t0006a0003c0003t0001 | a0001c0001t0026g0039a0002c0026t0006g0111a0003c0003t0001g0050 | 3 | 126 | 0.0238 | -28 | c.980 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31569624 | GTATATAC others(21): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | -28 | c.821 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32199780 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02922.hp2 |
a0002a0017 | a0002c0009a0002c0024a0017c0027 | a0002c0009t0001a0002c0024t0011a0017c0027t0001 | a0002c0009t0001g0065a0002c0024t0011g0016a0017c0027t0001g0124 | 3 | 126 | 0.0238 | -28 | c.643 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32227264 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02572.hp1 others(3): Show |
a0001a0002a0018others(3): Show | a0001c0001a0002c0009a0018c0061others(3): Show | a0001c0001t0002a0002c0009t0010a0018c0061t0001others(3): Show | a0001c0001t0002g0024a0002c0009t0010g0023a0018c0061t0001g0003others(3): Show | 6 | 126 | 0.0476 | -28 | c.629 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554817 | GGAGGGAG others(21): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG03486.hp2 |
a0002a0028 | a0002c0009a0028c0046 | a0002c0009t0001a0028c0046t0029 | a0002c0009t0001g0065a0028c0046t0029g0126 | 2 | 126 | 0.0159 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554878 | GAAGAAAG others(21): Show |
G | intron_variant | MODIFIER | HG02683.hp1 HG04115.hp1 |
a0009a0011 | a0009c0013a0011c0060 | a0009c0013t0022a0011c0060t0003 | a0009c0013t0022g0066a0011c0060t0003g0072 | 2 | 126 | 0.0159 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554915 | AAGAAAGA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(33): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0037others(33): Show | 36 | 126 | 0.2857 | -28 | c.199 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0002a0003 | a0002c0024a0003c0008 | a0002c0024t0011a0003c0008t0012 | a0002c0024t0011g0016a0003c0008t0012g0117 | 2 | 126 | 0.0159 | -28 | c.960 others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009164 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG02965.hp1 |
a0002a0013 | a0002c0052a0013c0015 | a0002c0052t0025a0013c0015t0001 | a0002c0052t0025g0095a0013c0015t0001g0030 | 2 | 126 | 0.0159 | -28 | c.93+ others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0131 | 1 | 430 | 0.0023 | -28 | c.-22 others(45): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |