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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32558188 | AAAGAAGA others(17): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0022 | 1 | 126 | 0.0079 | -24 | c.199 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02257.hp2 others(2): Show |
a0002a0003 | a0002c0009a0002c0012a0003c0008 | a0002c0009t0002a0002c0009t0010a0002c0012t0002others(2): Show | a0002c0009t0002g0002a0002c0009t0010g0023a0002c0012t0002g0122others(2): Show | 5 | 126 | 0.0397 | -24 | c.960 others(43): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32859461 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 126 | 0.0079 | -24 | c.94- others(39): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009283 | TATGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0004 | a0004c0055 | a0004c0055t0001 | a0004c0055t0001g0007 | 1 | 126 | 0.0079 | -24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009391 | TATGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0052 | a0002c0052t0025 | a0002c0052t0025g0095 | 1 | 126 | 0.0079 | -24 | c.93+ others(41): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMKN_chr19_35492220_35518649 | 35511468 | ACCACTGC others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG03098.hp1 HG03130.hp2 |
a0024a0031 | a0024c0021a0031c0048 | a0024c0021t0004a0031c0048t0001 | a0024c0021t0004g0162a0024c0021t0004g0163a0031c0048t0001g0268 | 3 | 442 | 0.0068 | -24 | c.837 others(31): Show |
p.Gly others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1034/1924 | 837/1431 | 279/476 | chr19 | TogoVar | ||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG02132.hp2 others(15): Show |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0005a0003c0005t0005g0023a0003c0005t0005g0061others(1): Show | 18 | 430 | 0.0419 | -24 | c.-22 others(41): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0003a0001c0001t0033a0001c0004t0003others(7): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0024others(25): Show | 71 | 416 | 0.1707 | -24 | c.*26 others(33): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 260 | chr19 | TogoVar | |||||
DMRTC2_chr19_41840042_41857333 | 41843054 | AAAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 402 | 0.0025 | -24 | c.-20 others(35): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1987 | chr19 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079265 | AATAAATA others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027a0001c0001t0003g0150a0001c0001t0003g0236others(1): Show | 5 | 324 | 0.0154 | -24 | c.836 others(39): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01517.hp1 others(7): Show |
a0002 | a0002c0002a0002c0027 | a0002c0002t0001a0002c0002t0006a0002c0002t0012others(1): Show | a0002c0002t0001g0220a0002c0002t0001g0331a0002c0002t0001g0332others(7): Show | 10 | 346 | 0.0289 | -24 | c.286 others(41): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0293 | 1 | 338 | 0.0030 | -24 | c.405 others(41): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204845 | TTTATTTA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01175.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0038a0001c0001t0002g0182others(1): Show | 4 | 296 | 0.0135 | -24 | c.-18 others(35): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1765 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220902 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG02809.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0218 | 2 | 296 | 0.0068 | -24 | c.333 others(41): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107220937 | TTCTTTCT others(17): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 NA20129.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194a0001c0001t0001g0202a0001c0001t0002g0038others(1): Show | 5 | 296 | 0.0169 | -24 | c.333 others(41): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAATA others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0044a0001c0003t0009g0045 | 2 | 362 | 0.0055 | -24 | c.178 others(43): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394949 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 362 | 0.0028 | -24 | c.84- others(41): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123807187 | ACATCCAT others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0012 | 1 | 170 | 0.0059 | -24 | c.298 others(43): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 18/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896128 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0052 | a0052c0037 | a0052c0037t0001 | a0052c0037t0001g0130 | 1 | 170 | 0.0059 | -24 | c.928 others(43): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21602557 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG02622.hp1 |
a0185a0186 | a0185c0245a0186c0247 | a0185c0245t0005a0186c0247t0002 | a0185c0245t0005g0127a0186c0247t0002g0167 | 2 | 298 | 0.0067 | -24 | c.364 others(41): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 18/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078843 | CCTCTCTC others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03540.hp2 |
a0008a0015 | a0008c0007a0015c0012 | a0008c0007t0001a0015c0012t0001 | a0008c0007t0001g0010a0015c0012t0001g0015 | 2 | 240 | 0.0083 | -24 | c.242 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225276967 | AAGGAAGG others(17): Show |
A | intron_variant | MODIFIER | NA18612.hp2 NA18987.hp1 NA19079.hp2 |
a0002a0046a0051 | a0002c0003a0046c0063a0051c0066 | a0002c0003t0001a0046c0063t0001a0051c0066t0001 | a0002c0003t0001g0059a0046c0063t0001g0067a0051c0066t0001g0065 | 3 | 240 | 0.0125 | -24 | c.817 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225276979 | AAGGAAGG others(17): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0065 | a0065c0047 | a0065c0047t0001 | a0065c0047t0001g0233 | 1 | 240 | 0.0042 | -24 | c.817 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0065 | a0065c0047 | a0065c0047t0001 | a0065c0047t0001g0233 | 1 | 240 | 0.0042 | -24 | c.846 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290643 | GTGTGTAT others(17): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03139.hp2 HG03471.hp2 |
a0025a0026 | a0025c0021a0026c0020 | a0025c0021t0001a0026c0020t0001 | a0025c0021t0001g0019a0026c0020t0001g0009a0026c0020t0001g0020 | 3 | 240 | 0.0125 | -24 | c.846 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335800 | TATATGTA others(17): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG03139.hp2 |
a0003a0025 | a0003c0002a0025c0021 | a0003c0002t0001a0025c0021t0001 | a0003c0002t0001g0117a0025c0021t0001g0019 | 2 | 240 | 0.0083 | -24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335934 | TATATACA others(17): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0096 | a0096c0099 | a0096c0099t0001 | a0096c0099t0001g0196 | 1 | 240 | 0.0042 | -24 | c.100 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225372797 | GACAGAGA others(17): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 others(5): Show |
a0021a0028a0036others(3): Show | a0021c0034a0028c0032a0036c0120others(3): Show | a0021c0034t0001a0028c0032t0001a0036c0120t0001others(3): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0028c0032t0001g0126others(5): Show | 8 | 240 | 0.0333 | -24 | c.123 others(45): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0111 | 1 | 240 | 0.0042 | -24 | c.123 others(43): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78433923 | AGGAAGGA others(17): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp2 |
a0009 | a0009c0140a0009c0144 | a0009c0140t0001a0009c0144t0001 | a0009c0140t0001g0071a0009c0144t0001g0093 | 2 | 252 | 0.0079 | -24 | c.122 others(42): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540879 | ATGGGTGG others(17): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0053 | a0053c0046 | a0053c0046t0001 | a0053c0046t0001g0102 | 1 | 252 | 0.0040 | -24 | c.253 others(43): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(17): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0173 | 1 | 316 | 0.0032 | -24 | c.190 others(43): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp1 HG02145.hp2 others(1): Show |
a0002a0019a0053 | a0002c0006a0019c0023a0053c0090 | a0002c0006t0001a0019c0023t0001a0053c0090t0001 | a0002c0006t0001g0069a0019c0023t0001g0146a0019c0023t0001g0190others(1): Show | 4 | 234 | 0.0171 | -24 | c.106 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0032 | a0032c0054 | a0032c0054t0001 | a0032c0054t0001g0180 | 1 | 234 | 0.0043 | -24 | c.832 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980241 | ATATAATA others(17): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0093 | a0001c0093t0001 | a0001c0093t0001g0083 | 1 | 234 | 0.0043 | -24 | c.772 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713446 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02080.hp2 HG02132.hp1 others(2): Show |
a0031a0064a0087others(1): Show | a0031c0088a0031c0094a0064c0085others(2): Show | a0031c0088t0008a0031c0094t0008a0064c0085t0018others(2): Show | a0031c0088t0008g0032a0031c0094t0008g0043a0064c0085t0018g0062others(2): Show | 5 | 252 | 0.0198 | -24 | c.131 others(43): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842423 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0100 | a0100c0057 | a0100c0057t0001 | a0100c0057t0001g0015 | 1 | 252 | 0.0040 | -24 | c.527 others(41): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84668834 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 |
a0008a0020 | a0008c0011a0020c0041 | a0008c0011t0001a0020c0041t0001 | a0008c0011t0001g0064a0020c0041t0001g0065 | 2 | 116 | 0.0172 | -24 | c.608 others(41): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84692417 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0083 | 1 | 116 | 0.0086 | -24 | c.729 others(43): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 45/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195778709 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(34): Show |
a0002a0039 | a0002c0002a0002c0054a0002c0059others(1): Show | a0002c0002t0001a0002c0054t0001a0002c0059t0001others(1): Show | a0002c0002t0001g0119a0002c0002t0001g0120a0002c0002t0001g0121others(34): Show | 37 | 256 | 0.1445 | -24 | c.108 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195990891 | TTATATAC others(17): Show |
T | intron_variant | MODIFIER | HG02293.hp1 NA18955.hp1 NA19070.hp2 others(2): Show |
a0001a0015 | a0001c0001a0015c0014 | a0001c0001t0002a0015c0014t0002 | a0001c0001t0002g0177a0015c0014t0002g0226a0015c0014t0002g0229others(2): Show | 5 | 256 | 0.0195 | -24 | c.135 others(43): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 196066186 | CTGATCAA others(17): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0256 | 1 | 256 | 0.0039 | -24 | c.15+ others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 1/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38855012 | TGTATATA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01109.hp2 |
a0004a0021 | a0004c0006a0021c0032 | a0004c0006t0001a0021c0032t0001 | a0004c0006t0001g0192a0021c0032t0001g0052a0021c0032t0001g0053 | 3 | 284 | 0.0106 | -24 | c.573 others(43): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 41/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694600 | AGCTTTCT others(17): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02965.hp1 others(2): Show |
a0018a0027a0063others(1): Show | a0018c0149a0018c0150a0027c0033others(2): Show | a0018c0149t0001a0018c0150t0002a0027c0033t0002others(2): Show | a0018c0149t0001g0011a0018c0150t0002g0012a0027c0033t0002g0103others(2): Show | 5 | 178 | 0.0281 | -24 | c.487 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694829 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0082 | a0001c0082t0001 | a0001c0082t0001g0104 | 1 | 178 | 0.0056 | -24 | c.487 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707959 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp2 HG02132.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0155a0001c0002t0001g0129others(7): Show | 10 | 178 | 0.0562 | -24 | c.555 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707992 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 178 | 0.0056 | -24 | c.555 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11707998 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0143 | 1 | 178 | 0.0056 | -24 | c.555 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708000 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0006 | a0006c0047 | a0006c0047t0001 | a0006c0047t0001g0068 | 1 | 178 | 0.0056 | -24 | c.555 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11708006 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0060 | a0060c0080 | a0060c0080t0001 | a0060c0080t0001g0022 | 1 | 178 | 0.0056 | -24 | c.555 others(43): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |