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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1202241 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01891.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0010others(5): Show | a0001c0002t0009a0001c0003t0001a0001c0003t0014others(10): Show | a0001c0002t0009g0039a0001c0003t0001g0025a0001c0003t0014g0020others(10): Show | 13 | 40 | 0.3250 | -8 | c.74- others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1208865 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0006a0001c0009t0012 | a0001c0003t0006g0033a0001c0009t0012g0006 | 2 | 40 | 0.0500 | -8 | c.74- others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1227153 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0014a0001c0010t0025 | a0001c0003t0014g0020a0001c0010t0025g0012 | 2 | 40 | 0.0500 | -8 | c.74- others(25): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1274695 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG02071.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0009a0001c0003t0001a0001c0011t0015others(3): Show | a0001c0002t0009g0039a0001c0003t0001g0025a0001c0011t0015g0002others(3): Show | 6 | 40 | 0.1500 | -8 | c.106 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1381782 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0006a0002c0001t0002a0002c0001t0005others(1): Show | a0001c0003t0006g0033a0002c0001t0002g0032a0002c0001t0005g0035others(1): Show | 4 | 40 | 0.1000 | -8 | c.107 others(29): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1419201 | CGTGCGTG others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02071.hp2 HG02818.hp2 others(4): Show |
a0001a0002a0003 | a0001c0003a0001c0012a0002c0001others(2): Show | a0001c0003t0001a0001c0012t0004a0002c0001t0007others(3): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0012t0004g0036others(4): Show | 7 | 40 | 0.1750 | -8 | c.107 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1537728 | TGGAAGGA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0003t0001g0026others(5): Show | 8 | 40 | 0.2000 | -8 | c.173 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1558860 | CATACACA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(8): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0006g0011others(9): Show | 12 | 40 | 0.3000 | -8 | c.123 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1595738 | CTCCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0003t0006g0033 | 3 | 40 | 0.0750 | -8 | c.144 others(29): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1683856 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0027a0001c0003t0001others(2): Show | a0001c0002t0001g0015a0001c0002t0027g0023a0001c0003t0001g0026others(3): Show | 6 | 40 | 0.1500 | -8 | c.270 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1683954 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02258.hp2 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0001others(4): Show | a0001c0002t0002g0021a0001c0002t0006g0011a0001c0003t0001g0025others(4): Show | 7 | 40 | 0.1750 | -8 | c.270 others(27): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36317223 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01261.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0057a0001c0001t0001g0058others(12): Show | 15 | 144 | 0.1042 | -8 | c.-30 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36318106 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0020others(23): Show | 26 | 144 | 0.1806 | -8 | c.-30 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0024 | a0001c0001t0001g0022a0001c0001t0001g0031a0001c0001t0002g0039others(3): Show | 6 | 144 | 0.0417 | -8 | c.-73 others(27): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36404750 | GATGAATG others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0104a0001c0001t0001g0125a0001c0001t0001g0139others(18): Show | 21 | 144 | 0.1458 | -8 | c.-72 others(27): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36461748 | TCCGCCCG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp1 HG01934.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0079others(6): Show | 9 | 144 | 0.0625 | -8 | c.164 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36467017 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG01884.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0047a0001c0001t0001g0055others(8): Show | 11 | 144 | 0.0764 | -8 | c.164 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36512931 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01109.hp1 others(11): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0001g0037a0001c0001t0004g0011a0001c0001t0011g0063others(11): Show | 14 | 144 | 0.0972 | -8 | c.251 others(29): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP5_chr14_55143135_55196585 | 55176976 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01358.hp2 HG01934.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0232a0001c0001t0001g0233others(4): Show | 9 | 362 | 0.0249 | -8 | c.104 others(23): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
DLL1_chr6_170277206_170296078 | 170281880 | CATGAATG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(44): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 47 | 413 | 0.1138 | -8 | c.*98 others(17): Show |
DLL1 | ENSG00000198719.9 | transcript | ENST00000366756.4 | protein_coding | 325 | chr6 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39510557 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00735.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0104others(31): Show | 58 | 428 | 0.1355 | -8 | c.*23 others(19): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 2089 | chr19 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74887597 | TAAAAATT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028a0001c0003t0003g0117 | 3 | 392 | 0.0077 | -8 | c.147 others(25): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DLX3_chr17_49985005_50000224 | 49989003 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01175.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0001a0001c0003t0003g0003 | 6 | 438 | 0.0137 | -8 | c.*25 others(19): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 1001 | chr17 | TogoVar | ||||||
DLX4_chr17_49964190_49979959 | 49966449 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0027others(12): Show | 71 | 404 | 0.1757 | -8 | c.-30 others(19): Show |
DLX4 | ENSG00000108813.12 | transcript | ENST00000240306.5 | protein_coding | 2740 | chr17 | TogoVar | ||||||
DLX5_chr7_97015396_97029831 | 97023337 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG03098.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0081others(1): Show | 5 | 448 | 0.0112 | -8 | c.355 others(23): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7799363 | ACCCCGCC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(470): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0008a0001c0001t0001g0056a0001c0001t0001g0086others(88): Show | 473 | 474 | 0.9979 | -8 | c.274 others(21): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7803715 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02717.hp2 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0018a0002c0002t0001 | a0001c0001t0004g0003a0001c0001t0018g0024a0002c0002t0001g0001 | 5 | 474 | 0.0106 | -8 | c.-39 others(19): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 3938 | chr9 | TogoVar | ||||||
DMAC2L_chr14_50307324_50332957 | 50329036 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01934.hp2 HG01993.hp1 others(48): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0015others(3): Show | a0002c0002t0003g0003a0002c0002t0003g0009a0002c0002t0003g0018others(11): Show | 51 | 400 | 0.1275 | -8 | c.*33 others(19): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 1080 | chr14 | TogoVar | ||||||
DMAC2_chr19_41426318_41444912 | 41432783 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG02109.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0003 | a0001c0001t0001g0086a0001c0001t0001g0107a0003c0003t0001g0178others(3): Show | 6 | 426 | 0.0141 | -8 | c.597 others(23): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634340 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02155.hp2 HG02683.hp2 others(5): Show |
a0001a0002a0006others(5): Show | a0001c0004a0002c0002a0006c0010others(5): Show | a0001c0004t0001a0002c0002t0001a0006c0010t0004others(5): Show | a0001c0004t0001g0236a0002c0002t0001g0028a0006c0010t0004g0226others(5): Show | 8 | 282 | 0.0284 | -8 | c.654 others(27): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634397 | TTTCTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 HG03516.hp2 others(2): Show |
a0012a0020a0028others(1): Show | a0012c0013a0020c0025a0028c0036others(1): Show | a0012c0013t0001a0020c0025t0001a0028c0036t0001others(1): Show | a0012c0013t0001g0068a0020c0025t0001g0014a0028c0036t0001g0120others(1): Show | 5 | 282 | 0.0177 | -8 | c.654 others(27): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634430 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 NA19090.hp2 |
a0005a0006 | a0005c0066a0006c0012 | a0005c0066t0002a0006c0012t0002 | a0005c0066t0002g0216a0006c0012t0002g0191 | 2 | 282 | 0.0071 | -8 | c.654 others(27): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122644126 | TGCTGTGC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03486.hp1 others(1): Show |
a0018a0051 | a0018c0020a0051c0098 | a0018c0020t0002a0051c0098t0002 | a0018c0020t0002g0051a0018c0020t0002g0052a0018c0020t0002g0053others(1): Show | 4 | 282 | 0.0142 | -8 | c.*72 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 391 | chr10 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46486185 | GGACAGAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(74): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0287others(70): Show | 77 | 430 | 0.1791 | -8 | c.-38 others(19): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 3650 | chr1 | TogoVar | ||||||
DMBX1_chr1_46484836_46521216 | 46501209 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA19084.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 3 | 430 | 0.0070 | -8 | c.-12 others(25): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501213 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(30): Show |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0268others(16): Show | 33 | 430 | 0.0767 | -8 | c.-12 others(25): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMBX1_chr1_46484836_46521216 | 46501264 | TTCTTTCT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01167.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0003t0011a0001c0004t0025 | a0001c0003t0005g0021a0001c0003t0005g0256a0001c0003t0011g0021others(1): Show | 6 | 430 | 0.0140 | -8 | c.-12 others(25): Show |
DMBX1 | ENSG00000197587.12 | transcript | ENST00000360032.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38521538 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0002g0029others(8): Show | 11 | 324 | 0.0340 | -8 | c.953 others(21): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31120880 | TCAATCAA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03098.hp1 others(1): Show |
a0002a0010 | a0002c0020a0002c0024a0002c0052others(1): Show | a0002c0020t0028a0002c0024t0011a0002c0052t0025others(1): Show | a0002c0020t0028g0010a0002c0024t0011g0016a0002c0052t0025g0095others(1): Show | 4 | 126 | 0.0318 | -8 | c.*10 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 79/79 | 1031 | chrX | TogoVar | |||||
DMD_chrX_31114222_33216549 | 31135026 | TAAAAACA others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG03486.hp2 |
a0002a0003a0028 | a0002c0059a0003c0008a0028c0046 | a0002c0059t0012a0003c0008t0012a0028c0046t0029 | a0002c0059t0012g0055a0003c0008t0012g0117a0028c0046t0029g0126 | 3 | 126 | 0.0238 | -8 | c.109 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31138624 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0052 | a0002c0052t0025 | a0002c0052t0025g0095 | 1 | 126 | 0.0079 | -8 | c.109 others(29): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187716 | TCAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 |
a0002a0021 | a0002c0005a0021c0035 | a0002c0005t0001a0021c0035t0001 | a0002c0005t0001g0022a0021c0035t0001g0106 | 2 | 126 | 0.0159 | -8 | c.980 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02723.hp1 HG03490.hp1 others(1): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0008a0012c0040others(1): Show | a0001c0001t0001a0003c0008t0012a0012c0040t0001others(1): Show | a0001c0001t0001g0026a0003c0008t0012g0117a0012c0040t0001g0048others(1): Show | 4 | 126 | 0.0318 | -8 | c.980 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31190590 | CGGGGGGG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG03195.hp1 others(3): Show |
a0002a0003a0015others(1): Show | a0002c0009a0003c0003a0003c0008others(3): Show | a0002c0009t0010a0003c0003t0027a0003c0008t0015others(3): Show | a0002c0009t0010g0023a0003c0003t0027g0091a0003c0008t0015g0123others(3): Show | 6 | 126 | 0.0476 | -8 | c.980 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG02257.hp1 |
a0001a0008a0024 | a0001c0001a0008c0010a0024c0038 | a0001c0001t0004a0008c0010t0001a0024c0038t0001 | a0001c0001t0004g0101a0008c0010t0001g0044a0024c0038t0001g0053 | 3 | 126 | 0.0238 | -8 | c.980 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31201158 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00738.hp1 others(24): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0002c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(22): Show | a0001c0001t0001g0008a0001c0001t0001g0084a0001c0001t0002g0024others(24): Show | 27 | 126 | 0.2143 | -8 | c.980 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31212160 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG03098.hp1 HG03486.hp1 |
a0001a0002a0005 | a0001c0002a0002c0020a0005c0053 | a0001c0002t0003a0002c0020t0028a0005c0053t0004 | a0001c0002t0003g0113a0002c0020t0028g0010a0005c0053t0004g0103 | 3 | 126 | 0.0238 | -8 | c.936 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31212166 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0051 | a0010c0051t0011 | a0010c0051t0011g0121 | 1 | 126 | 0.0079 | -8 | c.936 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31212170 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0016 | 1 | 126 | 0.0079 | -8 | c.936 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31275155 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00642.hp1 others(53): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0022others(28): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(35): Show | a0001c0001t0001g0054a0001c0001t0001g0062a0001c0001t0001g0076others(53): Show | 56 | 126 | 0.4444 | -8 | c.922 others(29): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar |