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 | 84626847 | A | ACATTTTA others(31): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | 38 | c.358 others(57): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTATATAT others(31): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0198 | 1 | 376 | 0.0027 | 38 | c.*60 others(49): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG04228.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0071a0001c0001t0160 | a0001c0001t0013g0008a0001c0001t0071g0217a0001c0001t0160g0151 | 3 | 376 | 0.0080 | 38 | c.*60 others(49): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | ||||||
DLG4_chr17_7182187_7222627 | 7184629 | G | GTGTGTAT others(31): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0042 | 1 | 376 | 0.0027 | 38 | c.*60 others(49): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 2557 | chr17 | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77916904 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0161 | 1 | 331 | 0.0030 | 38 | c.304 others(55): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 4243248 | T | TAAAAAGT others(31): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0002g0008others(14): Show | 17 | 80 | 0.2125 | 38 | c.-26 others(59): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 947986 | A | ATGCCAGC others(31): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02698.hp2 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0007 | a0001c0003t0001a0002c0004t0003a0002c0004t0018others(1): Show | a0001c0003t0001g0026a0002c0004t0003g0009a0002c0004t0018g0010others(1): Show | 4 | 40 | 0.1000 | 38 | c.73+ others(55): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 947998 | G | GTGTGCGC others(31): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | 38 | c.73+ others(55): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1430011 | T | TACATATA others(31): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0022 | 1 | 40 | 0.0250 | 38 | c.107 others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1471146 | C | CCTTTCCC others(31): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | 38 | c.107 others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1471184 | G | GCTTTCCC others(31): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | 38 | c.107 others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1471230 | G | GACCCCTC others(31): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | 38 | c.107 others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1603569 | T | TGGGTCTC others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0009others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(31): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(37): Show | 40 | 40 | 1.0000 | 38 | c.144 others(59): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1683834 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 40 | 0.0250 | 38 | c.270 others(57): 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(31): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02083.hp1 HG02895.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0134a0001c0001t0001g0195a0001c0001t0001g0201others(6): Show | 9 | 266 | 0.0338 | 38 | c.-51 others(53): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTTTATAT others(31): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 266 | 0.0038 | 38 | c.-51 others(53): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG03209.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0026others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0026t0006others(3): Show | a0001c0001t0002g0032a0001c0002t0001g0074a0002c0026t0006g0111others(3): Show | 6 | 126 | 0.0476 | 38 | c.922 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31394938 | T | TGAGAGAG others(31): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 126 | 0.0079 | 38 | c.908 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31421956 | T | TACACATA others(31): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03654.hp1 |
a0001 | a0001c0002a0001c0054 | a0001c0002t0003a0001c0054t0001 | a0001c0002t0003g0113a0001c0054t0001g0100 | 2 | 126 | 0.0159 | 38 | c.908 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTAT others(31): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | 38 | c.821 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(31): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 126 | 0.0079 | 38 | c.821 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32252843 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0093 | 1 | 126 | 0.0079 | 38 | c.629 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32279965 | C | CCATATAT others(31): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01515.hp1 others(20): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0022others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0001g0062others(20): Show | 23 | 126 | 0.1825 | 38 | c.629 others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32280146 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0027 | a0017c0027t0001 | a0017c0027t0001g0124 | 1 | 126 | 0.0079 | 38 | c.629 others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32298514 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp1 |
a0003a0022 | a0003c0008a0022c0025 | a0003c0008t0023a0022c0025t0006 | a0003c0008t0023g0005a0022c0025t0006g0108 | 2 | 126 | 0.0159 | 38 | c.611 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03490.hp1 NA20752.hp1 |
a0001a0002a0005 | a0001c0001a0002c0009a0005c0007 | a0001c0001t0001a0002c0009t0001a0005c0007t0001 | a0001c0001t0001g0026a0002c0009t0001g0065a0005c0007t0001g0120 | 3 | 126 | 0.0238 | 38 | c.280 others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0026 | a0026c0042 | a0026c0042t0024 | a0026c0042t0024g0070 | 1 | 126 | 0.0079 | 38 | c.160 others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 126 | 0.0079 | 38 | c.32- others(55): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 980594 | A | ATATAGCT others(31): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(200): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(98): Show | 203 | 458 | 0.4432 | 38 | c.454 others(55): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(31): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 394 | 0.0025 | 38 | c.-13 others(49): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(31): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0223a0001c0002t0001g0117 | 2 | 238 | 0.0084 | 38 | c.668 others(57): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTGTAT others(31): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0216 | 1 | 238 | 0.0042 | 38 | c.668 others(57): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DNAAF10_chr2_68124805_68162527 | 68130107 | G | GATATATA others(31): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0098 | 1 | 432 | 0.0023 | 38 | c.*11 others(49): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1130 | chr2 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(31): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0029 | a0029c0037 | a0029c0037t0002 | a0029c0037t0002g0064 | 1 | 456 | 0.0022 | 38 | c.125 others(53): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(31): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 NA20129.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047 | 3 | 456 | 0.0066 | 38 | c.125 others(53): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55158198 | G | GCCCCCAG others(31): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0049 | 1 | 398 | 0.0025 | 38 | c.*86 others(47): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 466 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(31): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0145 | 1 | 398 | 0.0025 | 38 | c.-18 others(49): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(31): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0146 | 1 | 398 | 0.0025 | 38 | c.-18 others(49): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(31): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0053 | 1 | 398 | 0.0025 | 38 | c.-43 others(49): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433990 | T | TATAATAT others(31): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 338 | 0.0030 | 38 | c.104 others(55): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473269 | A | ATGTGTAT others(31): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 338 | 0.0030 | 38 | c.406 others(55): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473295 | G | GTGTGTAT others(31): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0124a0004c0005t0001g0212 | 2 | 338 | 0.0059 | 38 | c.406 others(55): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 742606 | C | CGCCCAGC others(31): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 378 | 0.0027 | 38 | c.102 others(57): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908064 | G | GCTGTCTC others(31): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03927.hp2 |
a0001a0006 | a0001c0002a0006c0027 | a0001c0002t0002a0006c0027t0001 | a0001c0002t0002g0096a0006c0027t0001g0145 | 2 | 170 | 0.0118 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908064 | G | GCTGTCTC others(31): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0068 | a0068c0082 | a0068c0082t0001 | a0068c0082t0001g0009 | 1 | 170 | 0.0059 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908064 | G | GCTGTCTC others(31): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0065 | a0005c0065t0001 | a0005c0065t0001g0042 | 1 | 170 | 0.0059 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908121 | T | TCTGTCTC others(31): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(28): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0041others(15): Show | a0001c0001t0001a0001c0002t0002a0001c0041t0001others(15): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0058others(28): Show | 31 | 170 | 0.1824 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908159 | C | CCTGTCTC others(31): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908178 | T | TCTGTCTC others(31): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG03831.hp1 |
a0001a0034 | a0001c0066a0001c0068a0034c0070 | a0001c0066t0001a0001c0068t0001a0034c0070t0001 | a0001c0066t0001g0132a0001c0068t0001g0160a0034c0070t0001g0152 | 3 | 170 | 0.0177 | 38 | c.981 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789794 | T | TTTCTTTC others(31): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0023 | a0023c0015 | a0023c0015t0015 | a0023c0015t0015g0082a0023c0015t0015g0083 | 2 | 298 | 0.0067 | 38 | c.100 others(57): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |