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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(7): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG03041.hp1 NA18984.hp2 others(1): Show |
a0014a0057a0061others(1): Show | a0014c0013a0057c0060a0061c0052others(1): Show | a0014c0013t0001a0057c0060t0001a0061c0052t0001others(1): Show | a0014c0013t0001g0227a0057c0060t0001g0225a0061c0052t0001g0230others(1): Show | 4 | 240 | 0.0167 | -14 | c.242 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078859 | CCTCTCTC others(7): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0064 | a0064c0049 | a0064c0049t0001 | a0064c0049t0001g0096 | 1 | 240 | 0.0042 | -14 | c.242 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225086990 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(35): Show |
a0001a0011a0016others(6): Show | a0001c0001a0001c0008a0011c0011others(7): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0002others(8): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(35): Show | 38 | 240 | 0.1583 | -14 | c.357 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225094677 | AACAACAA others(7): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04184.hp1 |
a0021a0037 | a0021c0034a0037c0121 | a0021c0034t0001a0037c0121t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0037c0121t0001g0091 | 3 | 240 | 0.0125 | -14 | c.357 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225148396 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0025 | a0025c0021 | a0025c0021t0001 | a0025c0021t0001g0019 | 1 | 240 | 0.0042 | -14 | c.494 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 31/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02647.hp2 others(2): Show |
a0013a0017a0060 | a0013c0014a0017c0015a0060c0055 | a0013c0014t0001a0017c0015t0001a0060c0055t0001 | a0013c0014t0001g0071a0017c0015t0001g0085a0017c0015t0001g0086others(2): Show | 5 | 240 | 0.0208 | -14 | c.846 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290643 | GTGTGTAT others(7): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG02148.hp2 |
a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0179a0011c0011t0001g0180 | 2 | 240 | 0.0083 | -14 | c.846 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290647 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02004.hp2 |
a0005a0099 | a0005c0005a0099c0103 | a0005c0005t0001a0099c0103t0001 | a0005c0005t0001g0204a0005c0005t0001g0205a0099c0103t0001g0206 | 3 | 240 | 0.0125 | -14 | c.846 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335996 | TGCATATA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01070.hp1 others(15): Show |
a0001a0006a0011others(7): Show | a0001c0001a0006c0006a0011c0011others(7): Show | a0001c0001t0001a0006c0006t0001a0011c0011t0001others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0156a0006c0006t0001g0119others(15): Show | 18 | 240 | 0.0750 | -14 | c.100 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225342683 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0024 | a0024c0056 | a0024c0056t0001 | a0024c0056t0001g0224 | 1 | 240 | 0.0042 | -14 | c.106 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | CTATATAT others(7): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0138 | 1 | 240 | 0.0042 | -14 | c.123 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78478800 | TACCACCA others(7): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03486.hp2 |
a0099a0100 | a0099c0177a0100c0084 | a0099c0177t0001a0100c0084t0001 | a0099c0177t0001g0245a0100c0084t0001g0177 | 2 | 252 | 0.0079 | -14 | c.799 others(31): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480036 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0015 | a0015c0136 | a0015c0136t0001 | a0015c0136t0001g0191 | 1 | 252 | 0.0040 | -14 | c.775 others(31): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553283 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp2 NA20905.hp1 |
a0067a0068a0069 | a0067c0056a0068c0055a0069c0057 | a0067c0056t0001a0068c0055t0001a0069c0057t0001 | a0067c0056t0001g0070a0068c0055t0001g0007a0069c0057t0001g0164 | 3 | 252 | 0.0119 | -14 | c.217 others(31): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553306 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0127 | a0127c0035 | a0127c0035t0001 | a0127c0035t0001g0040 | 1 | 252 | 0.0040 | -14 | c.217 others(31): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(7): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02896.hp2 HG02970.hp1 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0021a0003c0004a0004c0008others(2): Show | a0001c0021t0001a0003c0004t0001a0004c0008t0005others(2): Show | a0001c0021t0001g0236a0003c0004t0001g0209a0004c0008t0005g0063others(2): Show | 5 | 316 | 0.0158 | -14 | c.190 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7793430 | GCTTTTTC others(7): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG03225.hp2 |
a0021a0060 | a0021c0114a0060c0074 | a0021c0114t0003a0060c0074t0004 | a0021c0114t0003g0304a0060c0074t0004g0183 | 2 | 316 | 0.0063 | -14 | c.756 others(31): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7798801 | GCCACTGG others(7): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0001 | a0001c0018a0001c0032 | a0001c0018t0003a0001c0032t0006 | a0001c0018t0003g0266a0001c0032t0006g0192 | 2 | 316 | 0.0063 | -14 | c.855 others(30): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7798808 | GCACACCC others(7): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00733.hp2 others(43): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(26): Show | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0002t0001g0125others(43): Show | 46 | 316 | 0.1456 | -14 | c.855 others(31): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02896.hp2 |
a0001a0032 | a0001c0001a0032c0054 | a0001c0001t0002a0032c0054t0001 | a0001c0001t0002g0007a0032c0054t0001g0180 | 2 | 234 | 0.0086 | -14 | c.106 others(35): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20959610 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(24): Show |
a0004a0006a0024others(5): Show | a0004c0007a0004c0027a0004c0028others(12): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(14): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(24): Show | 27 | 234 | 0.1154 | -14 | c.104 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0026 | a0026c0049 | a0026c0049t0001 | a0026c0049t0001g0082 | 1 | 234 | 0.0043 | -14 | c.832 others(31): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20969086 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0044 | a0044c0070 | a0044c0070t0001 | a0044c0070t0001g0042 | 1 | 234 | 0.0043 | -14 | c.832 others(31): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020389 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0028a0002c0004t0001g0032 | 2 | 234 | 0.0086 | -14 | c.563 others(31): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21060514 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02895.hp2 others(4): Show |
a0007a0010a0029 | a0007c0012a0007c0057a0010c0056others(1): Show | a0007c0012t0001a0007c0057t0001a0010c0056t0001others(1): Show | a0007c0012t0001g0179a0007c0012t0001g0182a0007c0012t0001g0183others(4): Show | 7 | 234 | 0.0299 | -14 | c.358 others(31): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 25/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713246 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0023 | a0023c0097 | a0023c0097t0006 | a0023c0097t0006g0146 | 1 | 252 | 0.0040 | -14 | c.131 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713434 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 |
a0052a0084 | a0052c0197a0084c0047 | a0052c0197t0014a0084c0047t0004 | a0052c0197t0014g0224a0084c0047t0004g0236 | 2 | 252 | 0.0079 | -14 | c.131 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778578 | GAAAGAAA others(7): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0027 | a0027c0147 | a0027c0147t0006 | a0027c0147t0006g0188 | 1 | 252 | 0.0040 | -14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778582 | GAAAGAAA others(7): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0080 | a0080c0106 | a0080c0106t0002 | a0080c0106t0002g0029 | 1 | 252 | 0.0040 | -14 | c.895 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13921471 | TCTCTCAC others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02717.hp2 others(4): Show |
a0024a0034a0058others(3): Show | a0024c0111a0034c0024a0058c0038others(3): Show | a0024c0111t0007a0034c0024t0007a0058c0038t0005others(3): Show | a0024c0111t0007g0008a0034c0024t0007g0002a0034c0024t0007g0003others(4): Show | 7 | 252 | 0.0278 | -14 | c.660 others(29): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 5/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84512266 | AAGTCCAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 116 | 0.0086 | -14 | c.-43 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 4231 | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84583784 | GCCGTGAC others(7): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp2 HG03540.hp1 |
a0001a0012 | a0001c0020a0001c0021a0012c0019 | a0001c0020t0001a0001c0021t0001a0012c0019t0001 | a0001c0020t0001g0031a0001c0021t0001g0032a0012c0019t0001g0033 | 3 | 116 | 0.0259 | -14 | c.223 others(31): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84763714 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01243.hp1 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0034a0002c0004a0002c0006others(3): Show | a0001c0034t0004a0002c0004t0001a0002c0006t0001others(3): Show | a0001c0034t0004g0047a0002c0004t0001g0011a0002c0004t0001g0012others(11): Show | 14 | 116 | 0.1207 | -14 | c.107 others(33): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 64/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195740585 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02040.hp1 HG02129.hp2 others(16): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0004a0003c0025others(6): Show | a0001c0001t0002a0003c0004t0003a0003c0025t0003others(6): Show | a0001c0001t0002g0198a0003c0004t0003g0094a0003c0004t0003g0100others(16): Show | 19 | 256 | 0.0742 | -14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740603 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02523.hp1 HG03225.hp2 others(1): Show |
a0008a0020a0029 | a0008c0009a0020c0024a0029c0045 | a0008c0009t0002a0020c0024t0003a0029c0045t0003 | a0008c0009t0002g0043a0020c0024t0003g0047a0020c0024t0003g0048others(1): Show | 4 | 256 | 0.0156 | -14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740605 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 256 | 0.0039 | -14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740607 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 NA18962.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123a0002c0002t0001g0124a0002c0002t0001g0126others(7): Show | 10 | 256 | 0.0391 | -14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740613 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | HG02647.hp2 NA18952.hp1 |
a0001a0004 | a0001c0006a0004c0003 | a0001c0006t0001a0004c0003t0004 | a0001c0006t0001g0192a0004c0003t0004g0075 | 2 | 256 | 0.0078 | -14 | c.118 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195744000 | AGACAGTG others(7): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0112 | 1 | 256 | 0.0039 | -14 | c.117 others(35): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 63/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778635 | AATAAATA others(7): Show |
A | intron_variant | MODIFIER | NA18943.hp2 NA18988.hp1 NA19007.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120a0002c0002t0001g0124a0002c0002t0001g0139others(1): Show | 4 | 256 | 0.0156 | -14 | c.108 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778639 | AATAAATA others(7): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01934.hp1 HG02083.hp2 others(20): Show |
a0002a0039 | a0002c0002a0002c0059a0039c0056 | a0002c0002t0001a0002c0059t0001a0039c0056t0001 | a0002c0002t0001g0119a0002c0002t0001g0122a0002c0002t0001g0123others(20): Show | 23 | 256 | 0.0898 | -14 | c.108 others(33): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195792394 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0044 | a0044c0031 | a0044c0031t0001 | a0044c0031t0001g0016 | 1 | 256 | 0.0039 | -14 | c.107 others(35): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 57/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195852911 | CACACAGA others(7): Show |
C | intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 |
a0043a0051 | a0043c0065a0051c0067 | a0043c0065t0001a0051c0067t0001 | a0043c0065t0001g0093a0051c0067t0001g0092 | 2 | 256 | 0.0078 | -14 | c.878 others(31): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195871930 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0003 | a0003c0069 | a0003c0069t0001 | a0003c0069t0001g0107 | 1 | 256 | 0.0039 | -14 | c.663 others(31): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 40/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195921352 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0096a0003c0004t0001g0097 | 2 | 256 | 0.0078 | -14 | c.393 others(31): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 24/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715911 | TAAATAAA others(7): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0170 | 1 | 284 | 0.0035 | -14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38715917 | AATAAATA others(7): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG02258.hp2 others(4): Show |
a0001a0005a0008others(3): Show | a0001c0038a0001c0040a0005c0024others(4): Show | a0001c0038t0001a0001c0040t0001a0005c0024t0002others(4): Show | a0001c0038t0001g0258a0001c0040t0001g0253a0005c0024t0002g0003others(4): Show | 7 | 284 | 0.0247 | -14 | c.-35 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38747365 | ATTTTCTT others(7): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0078 | a0078c0135 | a0078c0135t0001 | a0078c0135t0001g0121 | 1 | 284 | 0.0035 | -14 | c.129 others(33): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 8/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38781424 | ACAAATAT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01169.hp2 others(22): Show |
a0003a0013a0033others(2): Show | a0003c0002a0003c0017a0003c0047others(6): Show | a0003c0002t0001a0003c0017t0001a0003c0047t0001others(6): Show | a0003c0002t0001g0017a0003c0002t0001g0036a0003c0002t0001g0060others(22): Show | 25 | 284 | 0.0880 | -14 | c.225 others(29): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 16/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01081.hp2 NA19011.hp2 |
a0002a0030 | a0002c0004a0030c0137 | a0002c0004t0001a0030c0137t0001 | a0002c0004t0001g0080a0030c0137t0001g0204 | 2 | 284 | 0.0070 | -14 | c.408 others(31): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |