view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02976.hp2 HG06807.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0010a0005c0007t0010 | a0001c0001t0010g0036 a0005c0007t0010g0037 |
2 | 12 | 0.1667 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0126 | 1 | 11 | 0.0909 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02698.hp2 HG03209.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0012 | a0002c0002t0002g0109 a0002c0002t0002g0252 a0002c0002t0007g0194 others(1): Show |
4 | 14 | 0.2857 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01346.hp1 others(10): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0002a0002c0002t0007a0002c0002t0012others(1): Show | a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0200 others(9): Show |
13 | 23 | 0.5652 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01952.hp1 HG02027.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0193 a0002c0002t0002g0219 a0002c0002t0002g0249 others(8): Show |
11 | 21 | 0.5238 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19001.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0014 a0002c0002t0007g0014 |
2 | 12 | 0.1667 | 34 | c.558 others(49): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DISP1_chr1_222810039_223010995 | 222969370 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19068.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0078 a0001c0005t0001g0079 |
2 | 13 | 0.1538 | 34 | c.510 others(53): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(27): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0157 | a0001c0003t0157g0003 | 1 | 146 | 0.0068 | 34 | c.*36 others(45): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 81 | 0.0123 | 34 | c.*51 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 HG03098.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0006 | a0002c0002t0002g0269 a0003c0003t0006g0002 |
2 | 82 | 0.0244 | 34 | c.*51 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(27): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02165.hp1 HG04204.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0228 a0002c0002t0002g0235 others(1): Show |
4 | 84 | 0.0476 | 34 | c.*51 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAATA others(27): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0052 | 1 | 81 | 0.0123 | 34 | c.*51 others(45): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13120356 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 |
a0001a0007 | a0001c0011a0007c0031 | a0001c0011t0005a0007c0031t0005 | a0001c0011t0005g0195 a0007c0031t0005g0005 |
2 | 27 | 0.0741 | 34 | c.134 others(53): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13297282 | T | TAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02602.hp1 HG02976.hp1 others(1): Show |
a0001a0005 | a0001c0041a0005c0008a0005c0012 | a0001c0041t0010a0005c0008t0016a0005c0012t0003 | a0001c0041t0010g0010 a0005c0008t0016g0019 a0005c0012t0003g0021 others(1): Show |
4 | 11 | 0.3636 | 34 | c.134 others(53): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13297284 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0017 | 1 | 210 | 0.0048 | 34 | c.134 others(53): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197158634 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 94 | 0.0106 | 34 | c.484 others(51): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85122982 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 14 | 0.0714 | 34 | c.283 others(53): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 5/27 | chr11 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(8): Show | a0001c0001t0001g0099 a0001c0001t0008g0344 a0001c0001t0021g0020 others(8): Show |
11 | 103 | 0.1068 | 34 | c.*60 others(45): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG04204.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0066a0001c0001t0182 | a0001c0001t0037g0074 a0001c0001t0066g0155 a0001c0001t0182g0254 |
3 | 95 | 0.0316 | 34 | c.*60 others(45): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTGTAT others(27): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0117 | a0001c0001t0024g0033 a0001c0001t0117g0041 |
2 | 94 | 0.0213 | 34 | c.*60 others(45): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3551158 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0016 | a0001c0001t0022g0043 a0001c0002t0016g0072 |
2 | 7 | 0.2857 | 34 | c.205 others(55): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3600716 | A | ATATCTGT others(27): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 80 | 0.0125 | 34 | c.159 others(55): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3600731 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02135.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0047 a0001c0001t0004g0050 a0001c0001t0006g0002 |
3 | 62 | 0.0484 | 34 | c.159 others(55): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3600829 | T | TATATAGA others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0020a0001c0002t0040a0001c0003t0019others(2): Show | a0001c0001t0020g0033 a0001c0002t0040g0055 a0001c0003t0019g0006 others(2): Show |
5 | 42 | 0.1190 | 34 | c.159 others(55): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3720888 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0053 | 1 | 38 | 0.0263 | 34 | c.159 others(53): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4328044 | T | TTTTATCT others(27): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 80 | 0.0125 | 34 | c.-26 others(57): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 795662 | G | GCAGGCGT others(27): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 40 | 0.0250 | 34 | c.18+ others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 795939 | C | CGTCCAGT others(27): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02071.hp2 HG02074.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0001others(1): Show | a0001c0002t0009a0001c0012t0004a0002c0001t0001others(2): Show | a0001c0002t0009g0039 a0001c0012t0004g0036 a0002c0001t0001g0018 others(2): Show |
5 | 27 | 0.1852 | 34 | c.18+ others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 795956 | C | CGTCCAGT others(27): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02818.hp1 HG02922.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0027a0001c0003t0013a0002c0001t0020others(1): Show | a0001c0002t0027g0023 a0001c0003t0013g0007 a0002c0001t0020g0024 others(1): Show |
4 | 22 | 0.1818 | 34 | c.18+ others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014847 | A | ACGGTGCC others(27): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | 34 | c.73+ others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1275831 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01891.hp1 others(5): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0014a0001c0003t0017a0001c0003t0024others(5): Show | a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 others(5): Show |
8 | 27 | 0.2963 | 34 | c.106 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1351337 | A | AATGTGCA others(27): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02698.hp1 |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0011 | a0002c0001t0003g0017 a0002c0001t0011g0002 |
2 | 39 | 0.0513 | 34 | c.106 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1351339 | T | TGTGCGTG others(27): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG03492.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0009a0002c0001t0020 | a0001c0002t0002g0022 a0001c0002t0009g0039 a0002c0001t0020g0024 |
3 | 36 | 0.0833 | 34 | c.106 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 20 | 0.0500 | 34 | c.107 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1683856 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 17 | 0.0588 | 34 | c.270 others(53): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 others(20): Show |
24 | 38 | 0.6316 | 34 | c.-51 others(49): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0167 others(4): Show |
7 | 21 | 0.3333 | 34 | c.-51 others(49): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLL4_chr15_40924340_40944073 | 40942515 | C | CGCTAACT others(27): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0012 |
6 | 181 | 0.0331 | 34 | c.*44 others(45): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 3443 | chr15 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0002a0005 | a0002c0051a0005c0007 | a0002c0051t0003a0005c0007t0002 | a0002c0051t0003g0091 a0005c0007t0002g0089 |
2 | 78 | 0.0256 | 34 | c.922 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31314742 | C | CAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0025 | a0025c0026 | a0025c0026t0001 | a0025c0026t0001g0126 | 1 | 80 | 0.0125 | 34 | c.922 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(27): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 NA18994.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0012 a0001c0002t0001g0085 a0001c0021t0001g0032 others(1): Show |
4 | 44 | 0.0909 | 34 | c.908 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31394961 | G | GAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0016 | a0016c0055 | a0016c0055t0001 | a0016c0055t0001g0041 | 1 | 126 | 0.0079 | 34 | c.908 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31425695 | T | TACACACA others(27): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0025 | a0025c0026 | a0025c0026t0001 | a0025c0026t0001g0126 | 1 | 115 | 0.0087 | 34 | c.908 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31425708 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG02145.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0013a0002c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0013t0002others(10): Show | a0001c0001t0001g0082 a0001c0001t0002g0019 a0002c0013t0002g0094 others(10): Show |
13 | 95 | 0.1368 | 34 | c.908 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31569652 | A | ATATACGT others(27): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 NA19043.hp1 |
a0003a0005a0014 | a0003c0008a0005c0007a0014c0029 | a0003c0008t0018a0005c0007t0002a0014c0029t0001 | a0003c0008t0018g0001 a0005c0007t0002g0089 a0014c0029t0001g0092 |
3 | 107 | 0.0280 | 34 | c.821 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31951147 | A | ATATGTGT others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0089 | 1 | 124 | 0.0081 | 34 | c.661 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32298514 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0058 | a0002c0058t0003 | a0002c0058t0003g0051 | 1 | 76 | 0.0132 | 34 | c.611 others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02738.hp1 NA18988.hp1 |
a0001a0004 | a0001c0002a0004c0012 | a0001c0002t0001a0001c0002t0004a0004c0012t0002 | a0001c0002t0001g0021 a0001c0002t0004g0110 a0004c0012t0002g0031 |
3 | 30 | 0.1000 | 34 | c.592 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483146 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0058 | a0002c0058t0003 | a0002c0058t0003g0051 | 1 | 98 | 0.0102 | 34 | c.280 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01515.hp1 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0059 a0001c0002t0001g0021 a0001c0002t0002g0052 others(6): Show |
9 | 64 | 0.1406 | 34 | c.280 others(53): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar |