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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 3527410 | C | CTGTTT | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01496.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0012others(12): Show | a0001c0001t0004g0016a0001c0001t0008g0045a0001c0001t0012g0054others(12): Show | 15 | 80 | 0.1875 | 5 | c.247 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3574779 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0004a0001c0005t0001a0001c0005t0005others(5): Show | a0001c0001t0004g0019a0001c0005t0001g0052a0001c0005t0005g0038others(5): Show | 8 | 80 | 0.1000 | 5 | c.196 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3614686 | C | CAAAAA | intron_variant | MODIFIER | HG01981.hp2 HG02135.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0018a0001c0001t0002g0008a0001c0001t0003g0076others(3): Show | 6 | 80 | 0.0750 | 5 | c.159 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3639359 | G | GAGAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01981.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0044a0001c0001t0002g0017a0001c0001t0004g0019others(13): Show | 16 | 80 | 0.2000 | 5 | c.159 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3772120 | C | CTTTCT | intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 HG03471.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0017a0001c0001t0003g0068a0001c0001t0003g0071others(5): Show | 8 | 80 | 0.1000 | 5 | c.117 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3837849 | C | CAAAAA | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0014a0001c0004t0002a0001c0004t0014others(1): Show | a0001c0002t0014g0064a0001c0004t0002g0031a0001c0004t0014g0058others(1): Show | 4 | 80 | 0.0500 | 5 | c.958 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3848127 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(1): Show | a0001c0001t0001g0044a0001c0001t0003g0068a0001c0003t0005g0048others(1): Show | 4 | 80 | 0.0500 | 5 | c.957 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3898908 | T | TTAAAG | intron_variant | MODIFIER | HG00140.hp1 HG02155.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002 | a0001c0001t0004g0001a0001c0003t0002g0009 | 2 | 80 | 0.0250 | 5 | c.-72 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3905366 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01433.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0044others(13): Show | 16 | 80 | 0.2000 | 5 | c.-72 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4087104 | C | CACACA | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0002t0034a0001c0003t0010 | a0001c0001t0012g0053a0001c0002t0034g0069a0001c0003t0010g0040 | 3 | 80 | 0.0375 | 5 | c.-15 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4135790 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG01981.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0044others(27): Show | 30 | 80 | 0.3750 | 5 | c.-15 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4246874 | A | AAAAGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0018others(32): Show | 35 | 80 | 0.4375 | 5 | c.-26 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4288066 | A | ATTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0012a0001c0002t0024others(1): Show | a0001c0001t0003g0059a0001c0001t0012g0054a0001c0002t0024g0034others(1): Show | 4 | 80 | 0.0500 | 5 | c.-26 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4367004 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0027a0001c0002t0040others(2): Show | a0001c0001t0003g0059a0001c0001t0027g0024a0001c0002t0040g0055others(2): Show | 5 | 80 | 0.0625 | 5 | c.-26 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4401820 | T | TAACAA | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02451.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(14): Show | a0001c0001t0003g0068a0001c0001t0004g0016a0001c0001t0007g0028others(14): Show | 17 | 80 | 0.2125 | 5 | c.-26 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4419663 | G | GAATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(70): Show | 73 | 80 | 0.9125 | 5 | c.-26 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 738674 | G | GGGGCT | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0012others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(17): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0002t0009g0039others(20): Show | 23 | 40 | 0.5750 | 5 | c.18+ others(18): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 785221 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG02071.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0010a0001c0012others(1): Show | a0001c0002t0009a0001c0002t0023a0001c0010t0025others(2): Show | a0001c0002t0009g0039a0001c0002t0023g0005a0001c0010t0025g0012others(2): Show | 5 | 40 | 0.1250 | 5 | c.18+ others(22): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 908978 | G | GTAGCC | intron_variant | MODIFIER | HG03492.hp2 HG03710.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0003 | a0001c0002t0002g0021a0002c0001t0003g0022 | 2 | 40 | 0.0500 | 5 | c.73+ others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 966646 | A | AATGTG | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02074.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0006a0001c0003t0013a0002c0001t0011others(4): Show | a0001c0002t0006g0011a0001c0003t0013g0007a0002c0001t0011g0001others(4): Show | 7 | 40 | 0.1750 | 5 | c.73+ others(22): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1134531 | C | CATTAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(27): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0002t0006g0011others(32): Show | 35 | 40 | 0.8750 | 5 | c.74- others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1159584 | T | TATTTA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(27): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0002t0006g0011others(31): Show | 34 | 40 | 0.8500 | 5 | c.74- others(22): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1267244 | T | TAAATA | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG01496.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0004a0003c0005 | a0001c0003t0001a0002c0004t0003a0002c0004t0026others(1): Show | a0001c0003t0001g0025a0002c0004t0003g0009a0002c0004t0026g0016others(1): Show | 4 | 40 | 0.1000 | 5 | c.106 others(22): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1287282 | G | GTGTGT | intron_variant | MODIFIER | HG01361.hp1 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0001 | a0001c0002t0006g0011a0002c0001t0001g0018 | 2 | 40 | 0.0500 | 5 | c.106 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1287496 | G | GTGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01891.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0022others(7): Show | a0001c0002t0001g0015a0001c0002t0010g0008a0001c0002t0022g0034others(7): Show | 10 | 40 | 0.2500 | 5 | c.106 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1307183 | A | ACAACT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(9): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(24): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0006g0011others(28): Show | 31 | 40 | 0.7750 | 5 | c.106 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1433738 | C | CTTTTT | intron_variant | MODIFIER | HG02074.hp1 HG02922.hp2 HG02976.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0019a0002c0001t0020 | a0002c0001t0002g0032a0002c0001t0019g0030a0002c0001t0020g0024 | 3 | 40 | 0.0750 | 5 | c.107 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34919779 | C | CAAAAG | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01516.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(48): Show | 52 | 266 | 0.1955 | 5 | c.-13 others(24): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55164937 | A | AAAAAG | intron_variant | MODIFIER | HG02080.hp2 HG02486.hp2 HG02630.hp2 others(4): Show |
a0002a0005a0006 | a0002c0002a0002c0004a0005c0007others(1): Show | a0002c0002t0001a0002c0004t0001a0005c0007t0001others(1): Show | a0002c0002t0001g0078a0002c0002t0001g0079a0002c0002t0001g0093others(4): Show | 7 | 362 | 0.0193 | 5 | c.154 others(24): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 12/18 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55176976 | G | GAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02040.hp1 HG02257.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0053others(12): Show | 17 | 362 | 0.0470 | 5 | c.104 others(20): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | ||||||
DLGAP5_chr14_55143135_55196585 | 55192347 | T | TTCCCC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01433.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109a0001c0003t0001g0136a0001c0003t0001g0142others(1): Show | 4 | 362 | 0.0111 | 5 | c.-88 others(14): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 763 | chr14 | TogoVar | ||||||
DLST_chr14_74876916_74908743 | 74906409 | T | TGGGGG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0014others(9): Show | 19 | 392 | 0.0485 | 5 | c.*40 others(16): Show |
DLST | ENSG00000119689.15 | transcript | ENST00000334220.9 | protein_coding | 2667 | chr14 | TogoVar | ||||||
DLX4_chr17_49964190_49979959 | 49974585 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0021others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0009others(4): Show | 38 | 404 | 0.0941 | 5 | c.*65 others(14): Show |
DLX4 | ENSG00000108813.12 | transcript | ENST00000240306.5 | protein_coding | 3/3 | 658 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
DLX4_chr17_49964190_49979959 | 49978156 | T | TTCCCC | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0003g0003others(4): Show | 27 | 404 | 0.0668 | 5 | c.*42 others(16): Show |
DLX4 | ENSG00000108813.12 | transcript | ENST00000240306.5 | protein_coding | 3198 | chr17 | TogoVar | ||||||
DLX5_chr7_97015396_97029831 | 97018732 | G | GCCCCC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 16 | 448 | 0.0357 | 5 | c.*20 others(16): Show |
DLX5 | ENSG00000105880.7 | transcript | ENST00000648378.1 | protein_coding | 1663 | chr7 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122563586 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(151): Show |
a0001a0004a0005others(46): Show | a0001c0001a0001c0004a0001c0027others(59): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(71): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(143): Show | 154 | 282 | 0.5461 | 5 | c.62- others(20): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122566325 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(28): Show |
a0001a0003a0015others(7): Show | a0001c0004a0003c0005a0003c0017others(10): Show | a0001c0004t0001a0003c0005t0001a0003c0017t0001others(10): Show | a0001c0004t0001g0162a0003c0005t0001g0091a0003c0005t0001g0092others(27): Show | 31 | 282 | 0.1099 | 5 | c.91+ others(18): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122645553 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG02027.hp1 others(25): Show |
a0001a0002a0003others(7): Show | a0001c0004a0002c0002a0003c0005others(8): Show | a0001c0004t0001a0002c0002t0001a0003c0005t0001others(8): Show | a0001c0004t0001g0178a0002c0002t0001g0003a0002c0002t0001g0004others(24): Show | 28 | 282 | 0.0993 | 5 | c.*21 others(16): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1818 | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31114680 | C | CGGGGG | downstream_gene_variant | MODIFIER | HG00621.hp1 HG03942.hp1 NA18971.hp1 |
a0001a0011 | a0001c0001a0011c0049 | a0001c0001t0001a0001c0001t0008a0011c0049t0001 | a0001c0001t0001g0062a0001c0001t0008g0021a0011c0049t0001g0073 | 3 | 126 | 0.0238 | 5 | c.*72 others(16): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4541 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31138668 | A | AGAGAG | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 126 | 0.0079 | 5 | c.109 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01943.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0005a0005c0007others(1): Show | a0001c0002t0001a0002c0005t0001a0005c0007t0001others(1): Show | a0001c0002t0001g0105a0002c0005t0001g0040a0002c0005t0001g0049others(2): Show | 5 | 126 | 0.0397 | 5 | c.105 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31222392 | C | CAAAAA | intron_variant | MODIFIER | HG02293.hp1 | a0005 | a0005c0023 | a0005c0023t0020 | a0005c0023t0020g0110 | 1 | 126 | 0.0079 | 5 | c.936 others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31242262 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | 5 | c.928 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 63/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31289223 | C | CCACTG | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02257.hp1 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0008a0005c0045others(1): Show | a0001c0001t0002a0001c0001t0004a0003c0008t0015others(2): Show | a0001c0001t0002g0024a0001c0001t0004g0101a0003c0008t0015g0123others(2): Show | 5 | 126 | 0.0397 | 5 | c.922 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31344037 | C | CGGGGG | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
a0003a0008a0022 | a0003c0003a0003c0008a0008c0010others(1): Show | a0003c0003t0027a0003c0008t0023a0008c0010t0009others(1): Show | a0003c0003t0027g0091a0003c0008t0023g0005a0008c0010t0009g0004others(1): Show | 4 | 126 | 0.0318 | 5 | c.916 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31347001 | C | CAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0008a0022 | a0008c0010a0022c0025 | a0008c0010t0009a0022c0025t0006 | a0008c0010t0009g0004a0022c0025t0006g0108 | 2 | 126 | 0.0159 | 5 | c.916 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31366470 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG02293.hp1 |
a0001a0005 | a0001c0001a0005c0023 | a0001c0001t0001a0005c0023t0020 | a0001c0001t0001g0008a0005c0023t0020g0110 | 2 | 126 | 0.0159 | 5 | c.908 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31412186 | C | CAAAAA | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | 5 | c.908 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31422043 | A | ATTTTT | intron_variant | MODIFIER | HG02293.hp1 | a0005 | a0005c0023 | a0005c0023t0020 | a0005c0023t0020g0110 | 1 | 126 | 0.0079 | 5 | c.908 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31441189 | T | TTTTTA | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 126 | 0.0079 | 5 | c.908 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar |