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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM6SF2_chr19_19259366_19278301 | 19272728 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0004 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0002t0001g0045 others(5): Show |
9 | 396 | 0.0227 | 10 | c.95+ others(23): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19273933 | G | GAGAGCTA others(3): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0008 | a0008c0012 | a0008c0012t0005 | a0008c0012t0005g0228 | 1 | 396 | 0.0025 | 10 | c.-71 others(19): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 633 | chr19 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26988672 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02257.hp1 HG02523.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0107 a0001c0001t0002g0141 a0001c0001t0003g0045 others(9): Show |
12 | 430 | 0.0279 | 10 | c.868 others(27): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 6/11 | chr12 | TogoVar | |||||||
TM9SF2_chr13_99496472_99569048 | 99508404 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01243.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0114 others(15): Show |
24 | 332 | 0.0723 | 10 | c.171 others(27): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TM9SF3_chr10_96513110_96592012 | 96543344 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003a0001c0002t0014others(1): Show | a0001c0001t0006g0050 a0001c0002t0003g0247 a0001c0002t0003g0261 others(4): Show |
7 | 348 | 0.0201 | 10 | c.118 others(27): Show |
TM9SF3 | ENSG00000077147.16 | transcript | ENST00000371142.9 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32123184 | A | AGGGGGGG others(3): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 298 | 0.0034 | 10 | c.16- others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123203 | G | GGGGAGGG others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0003g0283 |
2 | 298 | 0.0067 | 10 | c.16- others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32126068 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00733.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0065 a0001c0001t0001g0067 others(23): Show |
26 | 298 | 0.0873 | 10 | c.16- others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32126106 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18989.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0028 |
3 | 298 | 0.0101 | 10 | c.16- others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32128790 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01074.hp1 others(20): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 others(20): Show |
23 | 298 | 0.0772 | 10 | c.16- others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32156942 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0044 others(5): Show |
8 | 298 | 0.0269 | 10 | c.133 others(27): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAAAATA others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 1 | 298 | 0.0034 | 10 | c.177 others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMA16_chr4_163489690_163525539 | 163494181 | G | GGGGCAGG others(3): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0003a0002c0002t0002a0005c0008t0002others(1): Show | a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0003g0067 others(35): Show |
120 | 422 | 0.2844 | 10 | c.-62 others(19): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 508 | chr4 | TogoVar | |||||||
TMA7B_chr22_39955397_39969905 | 39956465 | G | GTTTTGGG others(3): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02155.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0017 | a0001c0001t0001g0002 a0001c0003t0017g0002 |
6 | 428 | 0.0140 | 10 | c.-49 others(21): Show |
TMA7B | ENSG00000225528.4 | transcript | ENST00000424496.3 | protein_coding | 3931 | chr22 | TogoVar | |||||||
TMA7_chr3_48435257_48449208 | 48441010 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 390 | 0.0026 | 10 | c.160 others(25): Show |
TMA7 | ENSG00000232112.3 | transcript | ENST00000438607.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMBIM6_chr12_49736557_49769934 | 49749435 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0164 | 1 | 304 | 0.0033 | 10 | c.-30 others(27): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMBIM6_chr12_49736557_49769934 | 49765471 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0184 | 1 | 304 | 0.0033 | 10 | c.*25 others(21): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 538 | chr12 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72522154 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0016a0001c0001t0018a0001c0003t0003others(5): Show | a0001c0001t0016g0118 a0001c0001t0018g0115 a0001c0003t0003g0106 others(12): Show |
15 | 182 | 0.0824 | 10 | c.-42 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72538394 | C | CTTGTATT others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01081.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0005a0001c0003t0006others(4): Show | a0001c0001t0002g0142 a0001c0001t0002g0156 a0001c0003t0005g0026 others(20): Show |
23 | 182 | 0.1264 | 10 | c.-42 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72543952 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0115 | 1 | 182 | 0.0055 | 10 | c.-42 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72543954 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0004a0001c0003t0001a0001c0003t0005others(6): Show | a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0033 others(62): Show |
65 | 182 | 0.3571 | 10 | c.-42 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72555973 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0120 | 1 | 182 | 0.0055 | 10 | c.-42 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72570230 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0034a0001c0003t0003a0001c0003t0006others(4): Show | a0001c0001t0034g0093 a0001c0003t0003g0106 a0001c0003t0003g0107 others(12): Show |
15 | 182 | 0.0824 | 10 | c.-42 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72601183 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0092 | 1 | 182 | 0.0055 | 10 | c.-30 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72606994 | T | TAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0102 | 1 | 182 | 0.0055 | 10 | c.-30 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72606996 | T | TAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01261.hp1 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0030 | a0001c0003t0005g0026 a0001c0003t0005g0091 a0001c0003t0030g0175 |
3 | 182 | 0.0165 | 10 | c.-30 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72606998 | T | TAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 182 | 0.0055 | 10 | c.-30 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72636707 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01070.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0001a0001c0003t0005others(5): Show | a0001c0001t0014g0080 a0001c0003t0001g0073 a0001c0003t0001g0087 others(15): Show |
18 | 182 | 0.0989 | 10 | c.-53 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72650872 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0022a0001c0003t0024 | a0001c0001t0014g0080 a0001c0003t0022g0090 a0001c0003t0024g0030 |
3 | 182 | 0.0165 | 10 | c.16+ others(25): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683731 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01257.hp2 HG01978.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0023 | a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0064 others(4): Show |
7 | 182 | 0.0385 | 10 | c.17- others(25): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683733 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0002g0128 a0001c0001t0002g0138 a0001c0001t0002g0139 others(8): Show |
11 | 182 | 0.0604 | 10 | c.17- others(25): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72725325 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 a0001c0001t0002g0169 |
2 | 182 | 0.0110 | 10 | c.363 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72752447 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01978.hp2 HG02004.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0179 others(11): Show |
14 | 182 | 0.0769 | 10 | c.642 others(25): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72843042 | G | GAGAGAGA others(3): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0106 | 1 | 182 | 0.0055 | 10 | c.*70 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4746 | chr9 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02027.hp2 HG02155.hp2 others(9): Show |
a0001a0002a0024 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0005others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0233 a0001c0001t0001g0234 others(9): Show |
12 | 344 | 0.0349 | 10 | c.835 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589269 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01256.hp2 others(9): Show |
a0001a0004a0024 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0235 others(9): Show |
12 | 344 | 0.0349 | 10 | c.835 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00673.hp2 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0020a0001c0005t0002others(10): Show | a0001c0001t0001g0030 a0001c0001t0020g0278 a0001c0005t0002g0243 others(19): Show |
22 | 344 | 0.0640 | 10 | c.835 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTTTGTGT others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0289 | 1 | 344 | 0.0029 | 10 | c.835 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00741.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0023others(4): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0132 a0001c0001t0001g0184 others(21): Show |
24 | 344 | 0.0698 | 10 | c.238 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81372349 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03704.hp2 NA18979.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0005 | a0001c0001t0001g0288 a0002c0002t0002g0128 a0003c0003t0005g0303 |
3 | 390 | 0.0077 | 10 | c.236 others(25): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372870 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01070.hp1 others(28): Show |
a0001a0026 | a0001c0001a0026c0035 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(24): Show |
31 | 390 | 0.0795 | 10 | c.90- others(23): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54164752 | C | CCGCTCCG others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 |
a0003a0011 | a0003c0029a0011c0025 | a0003c0029t0002a0011c0025t0001 | a0003c0029t0002g0398 a0011c0025t0001g0223 |
2 | 407 | 0.0049 | 10 | c.946 others(25): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 6/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54165070 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 |
a0003a0011 | a0003c0029a0011c0025 | a0003c0029t0002a0011c0025t0001 | a0003c0029t0002g0398 a0011c0025t0001g0223 |
2 | 407 | 0.0049 | 10 | c.945 others(25): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 6/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168793 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02809.hp2 NA19030.hp2 |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0007 | a0002c0002t0002a0004c0004t0002a0006c0007t0002 | a0002c0002t0002g0315 a0004c0004t0002g0350 a0006c0007t0002g0282 |
3 | 407 | 0.0074 | 10 | c.443 others(25): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54177900 | G | GTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 407 | 0.0025 | 10 | c.-47 others(21): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 4741 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19436273 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 336 | 0.0030 | 10 | c.-79 others(27): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19473345 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 336 | 0.0030 | 10 | c.193 others(27): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0008 a0001c0001t0004g0091 a0001c0001t0004g0220 others(1): Show |
4 | 336 | 0.0119 | 10 | c.282 others(27): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19495008 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0039 | 1 | 336 | 0.0030 | 10 | c.293 others(27): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19495011 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0013a0002c0025t0022 | a0001c0001t0013g0080 a0002c0025t0022g0044 |
2 | 336 | 0.0060 | 10 | c.293 others(27): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |