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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLG2_chr11_83450173_85632344 | 84141636 | CAAAGTGA others(7): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 14 | 0.0714 | -14 | c.624 others(33): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 9/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84777281 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 14 | 0.0714 | -14 | c.358 others(35): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 85582660 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 14 | 0.0714 | -14 | c.40+ others(31): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77814461 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0003a0001c0007a0001c0023others(1): Show | a0001c0003t0003a0001c0007t0001a0001c0023t0030others(2): Show | a0001c0003t0003g0027a0001c0007t0001g0103a0001c0007t0001g0107others(5): Show | 8 | 331 | 0.0242 | -14 | c.402 others(33): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 20/31 | chr10 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77837738 | ACTGGCTC others(7): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 331 | 0.0030 | -14 | c.143 others(33): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 7/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3561253 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0029a0001c0003t0015 | a0001c0002t0029g0032a0001c0003t0015g0078 | 2 | 80 | 0.0250 | -14 | c.205 others(33): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3659394 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0041a0001c0001t0042a0001c0002t0016others(3): Show | a0001c0001t0041g0079a0001c0001t0042g0080a0001c0002t0016g0072others(3): Show | 6 | 80 | 0.0750 | -14 | c.159 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3664204 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0011 | 1 | 80 | 0.0125 | -14 | c.159 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3688614 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 80 | 0.0125 | -14 | c.159 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3772336 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 80 | 0.0125 | -14 | c.117 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3803957 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0008a0001c0002t0014others(3): Show | a0001c0002t0001g0039a0001c0002t0008g0037a0001c0002t0014g0064others(3): Show | 6 | 80 | 0.0750 | -14 | c.117 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3892114 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0037a0001c0002t0034a0001c0004t0036 | a0001c0001t0037g0063a0001c0002t0034g0069a0001c0004t0036g0070 | 3 | 80 | 0.0375 | -14 | c.-72 others(33): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4045432 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0020others(1): Show | a0001c0001t0005g0042a0001c0001t0008g0045a0001c0001t0020g0033others(1): Show | 4 | 80 | 0.0500 | -14 | c.-15 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4057004 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG02135.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0071a0001c0001t0004g0026a0001c0001t0004g0050others(6): Show | 9 | 80 | 0.1125 | -14 | c.-15 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4071474 | TCAAGCAC others(7): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02280.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0001g0018a0001c0001t0005g0042a0001c0001t0008g0045others(7): Show | 10 | 80 | 0.1250 | -14 | c.-15 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4079287 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0003t0011 | a0001c0001t0037g0063a0001c0003t0011g0010 | 2 | 80 | 0.0250 | -14 | c.-15 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4178202 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0014 | 1 | 80 | 0.0125 | -14 | c.-26 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4306033 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0035 | 1 | 80 | 0.0125 | -14 | c.-26 others(37): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4354887 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0044a0001c0001t0003g0071a0001c0001t0003g0076others(5): Show | 8 | 80 | 0.1000 | -14 | c.-26 others(37): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4387930 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 80 | 0.0125 | -14 | c.-26 others(35): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 824029 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01496.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0022others(9): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0002t0022g0034others(13): Show | 16 | 40 | 0.4000 | -14 | c.19- others(31): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 854593 | ATGTGCAT others(7): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | -14 | c.19- others(31): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 967816 | CTATATAT others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -14 | c.73+ others(31): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1135503 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -14 | c.74- others(33): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1287707 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0003t0017a0002c0001t0001others(2): Show | a0001c0002t0006g0011a0001c0003t0017g0004a0002c0001t0001g0018others(2): Show | 5 | 40 | 0.1250 | -14 | c.106 others(33): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1378026 | CAGACAGC others(7): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -14 | c.106 others(35): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1381782 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0002a0004 | a0002c0001a0004c0008 | a0002c0001t0002a0004c0008t0016 | a0002c0001t0002g0013a0004c0008t0016g0029 | 2 | 40 | 0.0500 | -14 | c.107 others(35): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1457975 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02895.hp1 HG03516.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0004 | a0001c0003t0001g0026a0001c0003t0001g0027a0003c0005t0004g0037 | 3 | 40 | 0.0750 | -14 | c.107 others(33): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1537061 | CTGGTATG others(7): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -14 | c.173 others(33): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP3_chr1_34860436_34934650 | 34895917 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(66): Show | 69 | 266 | 0.2594 | -14 | c.138 others(33): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36319141 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0090 | 1 | 144 | 0.0069 | -14 | c.-30 others(35): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36328795 | AAGACGGA others(7): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03491.hp2 HG03492.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0002 | a0001c0001t0003g0102a0003c0004t0002g0099a0003c0004t0002g0100 | 3 | 144 | 0.0208 | -14 | c.-30 others(35): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36349104 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp1 HG01496.hp1 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0037a0001c0001t0001g0079others(6): Show | 9 | 144 | 0.0625 | -14 | c.-30 others(35): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(7): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG02809.hp1 NA18982.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0003a0007c0007t0029 | a0001c0001t0001g0034a0001c0001t0001g0084a0001c0001t0003g0033others(1): Show | 4 | 144 | 0.0278 | -14 | c.-73 others(33): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36423455 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 144 | 0.0069 | -14 | c.-72 others(31): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02738.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002a0002c0003t0007 | a0001c0001t0002g0131a0002c0003t0002g0016a0002c0003t0007g0101 | 3 | 144 | 0.0208 | -14 | c.260 others(31): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36525241 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0011t0001 | a0001c0001t0005g0045a0001c0011t0001g0087 | 2 | 144 | 0.0139 | -14 | c.260 others(31): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLK2_chr6_43445352_43460548 | 43456898 | TCACACAG others(7): Show |
T | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -14 | c.-15 others(25): Show |
DLK2 | ENSG00000171462.15 | transcript | ENST00000372488.8 | protein_coding | 1351 | chr6 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39510557 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0007 | a0001c0001t0001a0003c0006t0001a0003c0007t0001 | a0001c0001t0001g0038a0001c0001t0001g0169a0003c0006t0001g0028others(6): Show | 13 | 428 | 0.0304 | -14 | c.*23 others(25): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 2089 | chr19 | TogoVar | ||||||
DLX3_chr17_49985005_50000224 | 49989003 | CTGTGTGT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00735.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0032a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0001t0032g0061a0001c0002t0002g0002a0001c0002t0004g0004others(15): Show | 56 | 438 | 0.1279 | -14 | c.*25 others(25): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 1001 | chr17 | TogoVar | ||||||
DLX3_chr17_49985005_50000224 | 49995433 | AACACACA others(7): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0005a0001c0001t0017g0046 | 2 | 438 | 0.0046 | -14 | c.-44 others(23): Show |
DLX3 | ENSG00000064195.7 | transcript | ENST00000434704.2 | protein_coding | 210 | chr17 | TogoVar | ||||||
DMAC1_chr9_7791500_7804778 | 7803715 | GGTGTGTG others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18984.hp2 NA18992.hp1 NA19056.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 4 | 474 | 0.0084 | -14 | c.-39 others(25): Show |
DMAC1 | ENSG00000137038.8 | transcript | ENST00000358227.5 | protein_coding | 3938 | chr9 | TogoVar | ||||||
DMAC2L_chr14_50307324_50332957 | 50329056 | TATATATA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -14 | c.*33 others(25): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 1100 | chr14 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122634430 | TTCTCTCT others(7): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01256.hp1 others(1): Show |
a0007a0022a0039others(1): Show | a0007c0006a0022c0022a0039c0101others(1): Show | a0007c0006t0002a0022c0022t0002a0039c0101t0002others(1): Show | a0007c0006t0002g0066a0022c0022t0002g0235a0039c0101t0002g0079others(1): Show | 4 | 282 | 0.0142 | -14 | c.654 others(33): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMC1_chr22_38513948_38575183 | 38516578 | CATTTATA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 324 | 0.0031 | -14 | c.*34 others(25): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 2369 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38521538 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 324 | 0.0031 | -14 | c.953 others(27): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38561346 | TTCTCCCT others(7): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0235others(2): Show | 5 | 324 | 0.0154 | -14 | c.326 others(29): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38568461 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(1): Show | 4 | 324 | 0.0124 | -14 | c.-33 others(29): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31138624 | GGAGAGAG others(7): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG02451.hp2 HG03130.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0002c0009a0002c0024others(1): Show | a0001c0001t0001a0002c0009t0010a0002c0024t0011others(1): Show | a0001c0001t0001g0008a0002c0009t0010g0023a0002c0024t0011g0016others(1): Show | 4 | 126 | 0.0318 | -14 | c.109 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01934.hp1 HG02015.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(7): Show | a0001c0001t0001g0080a0001c0001t0008g0021a0001c0002t0001g0104others(8): Show | 11 | 126 | 0.0873 | -14 | c.980 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar |