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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH5_chr5_13685328_13949688 | 13778539 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG03225.hp1 others(2): Show |
a0004a0007a0029others(2): Show | a0004c0010a0007c0052a0029c0027others(2): Show | a0004c0010t0004a0007c0052t0002a0029c0027t0004others(2): Show | a0004c0010t0004g0248a0007c0052t0002g0102a0029c0027t0004g0252others(2): Show | 5 | 252 | 0.0198 | 20 | c.895 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18949.hp1 |
a0021a0063 | a0021c0087a0063c0074 | a0021c0087t0001a0063c0074t0002 | a0021c0087t0001g0066a0063c0074t0002g0056 | 2 | 252 | 0.0079 | 20 | c.895 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778596 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0051 | a0051c0203 | a0051c0203t0002 | a0051c0203t0002g0230 | 1 | 252 | 0.0040 | 20 | c.895 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13825346 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01433.hp1 others(5): Show |
a0003a0006a0031others(5): Show | a0003c0080a0006c0003a0031c0088others(5): Show | a0003c0080t0002a0006c0003t0002a0031c0088t0008others(5): Show | a0003c0080t0002g0061a0006c0003t0002g0040a0031c0088t0008g0032others(5): Show | 8 | 252 | 0.0318 | 20 | c.644 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 38/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02273.hp2 HG02300.hp1 others(6): Show |
a0006a0009a0013others(6): Show | a0006c0003a0009c0007a0013c0004others(6): Show | a0006c0003t0002a0009c0007t0002a0013c0004t0001others(6): Show | a0006c0003t0002g0040a0009c0007t0002g0126a0013c0004t0001g0111others(6): Show | 9 | 252 | 0.0357 | 20 | c.527 others(37): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842441 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0094 | a0094c0066 | a0094c0066t0001 | a0094c0066t0001g0150 | 1 | 252 | 0.0040 | 20 | c.527 others(37): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13862860 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02258.hp1 HG03130.hp1 others(3): Show |
a0001a0017a0048others(3): Show | a0001c0143a0017c0008a0048c0201others(3): Show | a0001c0143t0006a0017c0008t0002a0048c0201t0001others(3): Show | a0001c0143t0006g0195a0017c0008t0002g0216a0048c0201t0001g0210others(3): Show | 6 | 252 | 0.0238 | 20 | c.459 others(37): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 28/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84514867 | T | TCACACAC others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0093 | 1 | 116 | 0.0086 | 20 | c.-17 others(31): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 1630 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01884.hp1 others(2): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0043a0001c0001t0001g0067a0001c0001t0001g0071others(2): Show | 5 | 116 | 0.0431 | 20 | c.286 others(39): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 256 | 0.0039 | 20 | c.114 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195950851 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0103 | 1 | 256 | 0.0039 | 20 | c.307 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 19/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02109.hp1 others(7): Show |
a0001a0011a0017others(2): Show | a0001c0001a0001c0006a0001c0048others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0006t0001others(5): Show | a0001c0001t0002g0169a0001c0001t0002g0204a0001c0001t0002g0212others(7): Show | 10 | 256 | 0.0391 | 20 | c.183 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715950 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0036 | a0036c0082 | a0036c0082t0001 | a0036c0082t0001g0246 | 1 | 284 | 0.0035 | 20 | c.-35 others(35): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATTTTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0235 | 1 | 284 | 0.0035 | 20 | c.-35 others(35): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03486.hp1 |
a0018a0019 | a0018c0030a0019c0026 | a0018c0030t0001a0019c0026t0001 | a0018c0030t0001g0237a0019c0026t0001g0216 | 2 | 284 | 0.0070 | 20 | c.-35 others(35): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38766135 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01358.hp2 others(12): Show |
a0003a0013a0034others(1): Show | a0003c0002a0003c0017a0003c0050others(3): Show | a0003c0002t0001a0003c0017t0001a0003c0050t0001others(3): Show | a0003c0002t0001g0036a0003c0002t0001g0060a0003c0002t0001g0067others(12): Show | 15 | 284 | 0.0528 | 20 | c.161 others(39): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38766139 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0066 | a0066c0061 | a0066c0061t0001 | a0066c0061t0001g0145 | 1 | 284 | 0.0035 | 20 | c.161 others(39): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38766139 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 |
a0001a0082 | a0001c0007a0082c0142 | a0001c0007t0001a0082c0142t0001 | a0001c0007t0001g0170a0082c0142t0001g0228 | 2 | 284 | 0.0070 | 20 | c.161 others(39): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 11/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874068 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0001 | 1 | 284 | 0.0035 | 20 | c.762 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874068 | T | TTCTTTTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0071a0014c0020t0001g0072 | 2 | 284 | 0.0070 | 20 | c.762 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38874273 | T | TCCCTCCC others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02559.hp2 |
a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0153a0004c0021t0001g0177a0004c0021t0001g0178 | 3 | 284 | 0.0106 | 20 | c.762 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38932216 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0133 | 1 | 284 | 0.0035 | 20 | c.114 others(39): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654355 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02922.hp2 |
a0012a0026 | a0012c0057a0026c0095 | a0012c0057t0001a0026c0095t0001 | a0012c0057t0001g0062a0026c0095t0001g0044 | 2 | 178 | 0.0112 | 20 | c.259 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11694837 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0006 | a0006c0133 | a0006c0133t0001 | a0006c0133t0001g0076 | 1 | 178 | 0.0056 | 20 | c.487 others(37): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11812054 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp1 HG01978.hp1 others(3): Show |
a0003a0012a0031others(1): Show | a0003c0007a0003c0104a0003c0105others(3): Show | a0003c0007t0001a0003c0104t0001a0003c0105t0001others(3): Show | a0003c0007t0001g0151a0003c0104t0001g0107a0003c0105t0001g0048others(3): Show | 6 | 178 | 0.0337 | 20 | c.870 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0008 | a0008c0132 | a0008c0132t0001 | a0008c0132t0001g0058 | 1 | 178 | 0.0056 | 20 | c.950 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02717.hp1 |
a0003a0006a0071 | a0003c0140a0006c0047a0071c0087 | a0003c0140t0001a0006c0047t0001a0071c0087t0001 | a0003c0140t0001g0051a0006c0047t0001g0068a0071c0087t0001g0120 | 3 | 178 | 0.0169 | 20 | c.950 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0004 | a0004c0054 | a0004c0054t0001 | a0004c0054t0001g0144 | 1 | 178 | 0.0056 | 20 | c.950 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11843863 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18971.hp1 NA19012.hp1 |
a0002a0003a0005 | a0002c0009a0003c0048a0005c0004 | a0002c0009t0001a0003c0048t0001a0005c0004t0001 | a0002c0009t0001g0119a0003c0048t0001g0130a0005c0004t0001g0092 | 3 | 178 | 0.0169 | 20 | c.950 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 49/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11926035 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0019 | 1 | 178 | 0.0056 | 20 | c.118 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 62/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11939807 | C | CATGGATG others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0068 | a0068c0138 | a0068c0138t0001 | a0068c0138t0001g0176 | 1 | 178 | 0.0056 | 20 | c.126 others(41): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 66/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11973148 | C | CTGGGCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03195.hp2 |
a0017 | a0017c0021a0017c0086 | a0017c0021t0001a0017c0086t0001 | a0017c0021t0001g0003a0017c0086t0001g0097 | 2 | 178 | 0.0112 | 20 | c.*36 others(31): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 3401 | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0147 | 1 | 382 | 0.0026 | 20 | c.682 others(35): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GAGATATA others(13): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 382 | 0.0026 | 20 | c.682 others(35): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATAGATA others(13): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0331 | 1 | 382 | 0.0026 | 20 | c.682 others(35): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34492493 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02027.hp2 HG02040.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0080a0001c0001t0001g0108a0001c0001t0001g0109others(5): Show | 8 | 382 | 0.0209 | 20 | c.682 others(35): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74301878 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0013 | a0013c0025 | a0013c0025t0002 | a0013c0025t0002g0369 | 1 | 398 | 0.0025 | 20 | c.987 others(35): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85110450 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00639.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0108a0001c0001t0001g0161others(17): Show | 20 | 374 | 0.0535 | 20 | c.178 others(37): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66869073 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 264 | 0.0038 | 20 | c.940 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66892950 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18941.hp1 NA18966.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0003t0001a0003c0005t0001 | a0001c0001t0001g0042a0001c0003t0001g0053a0001c0003t0001g0110others(1): Show | 4 | 264 | 0.0152 | 20 | c.530 others(35): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66893063 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | NA19079.hp1 NA19083.hp1 |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0001a0004c0006t0001 | a0001c0003t0001g0030a0004c0006t0001g0234 | 2 | 264 | 0.0076 | 20 | c.530 others(35): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66909285 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02738.hp1 HG02922.hp1 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0004a0002c0007others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0151others(4): Show | 7 | 264 | 0.0265 | 20 | c.171 others(37): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66924858 | A | AGGCGGGG others(13): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0221 | 1 | 264 | 0.0038 | 20 | c.-28 others(27): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25108825 | T | TAAAAAAA others(13): Show |
splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0271 | 2 | 336 | 0.0060 | 20 | c.189 others(33): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 15/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25124032 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0045others(4): Show | 7 | 336 | 0.0208 | 20 | c.100 others(37): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25182605 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 336 | 0.0030 | 20 | c.21+ others(35): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25199619 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02559.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265a0002c0002t0001g0305 | 2 | 336 | 0.0060 | 20 | c.-45 others(31): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 4460 | chr12 | TogoVar | ||||||
DNAJA1_chr9_33020273_33044907 | 33039536 | C | CATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0007a0001c0001t0027g0031 | 2 | 444 | 0.0045 | 20 | c.*64 others(29): Show |
DNAJA1 | ENSG00000086061.16 | transcript | ENST00000330899.5 | protein_coding | 9/9 | 645 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
DNAJA4_chr15_78259562_78287191 | 78267168 | G | GTGTGAGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02895.hp1 others(2): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0009others(1): Show | a0001c0001t0007a0001c0001t0024a0001c0002t0001others(2): Show | a0001c0001t0007g0190a0001c0001t0024g0191a0001c0002t0001g0189others(2): Show | 5 | 442 | 0.0113 | 20 | c.132 others(37): Show |
DNAJA4 | ENSG00000140403.13 | transcript | ENST00000394852.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DNAJB11_chr3_186565720_186590793 | 186569305 | A | ATTATTTA others(13): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG02717.hp2 HG02735.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0016a0002c0002t0001g0047others(2): Show | 5 | 370 | 0.0135 | 20 | c.-15 others(31): Show |
DNAJB11 | ENSG00000090520.12 | transcript | ENST00000265028.8 | protein_coding | 1414 | chr3 | TogoVar |