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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM4SF5_chr17_4766886_4788211 | 4766971 | A | ATTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(22): Show |
44 | 120 | 0.3667 | 8 | c.-49 others(19): Show |
TM4SF5 | ENSG00000142484.7 | transcript | ENST00000270560.4 | protein_coding | 4914 | chr17 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19265360 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00741.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 others(13): Show |
26 | 309 | 0.0841 | 8 | c.925 others(23): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19272692 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0031 others(6): Show |
16 | 169 | 0.0947 | 8 | c.95+ others(21): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19272728 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0153 a0001c0002t0001g0014 a0001c0002t0001g0026 others(13): Show |
26 | 265 | 0.0981 | 8 | c.95+ others(21): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26988672 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp1 others(49): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0098 others(47): Show |
52 | 136 | 0.3824 | 8 | c.868 others(25): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 6/11 | chr12 | TogoVar | |||||||
TM9SF2_chr13_99496472_99569048 | 99499608 | G | GTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(8): Show |
13 | 249 | 0.0522 | 8 | c.-19 others(19): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1863 | chr13 | TogoVar | |||||||
TM9SF2_chr13_99496472_99569048 | 99508404 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01192.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0039 others(19): Show |
24 | 85 | 0.2824 | 8 | c.171 others(25): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32126068 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(50): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0068 others(50): Show |
53 | 138 | 0.3841 | 8 | c.16- others(23): 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(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01978.hp2 HG02135.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0013a0002c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0019 others(14): Show |
17 | 269 | 0.0632 | 8 | c.16- others(23): 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(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02165.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0031 a0001c0001t0001g0200 a0001c0001t0001g0201 others(10): Show |
13 | 34 | 0.3824 | 8 | c.16- others(23): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32131481 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0192 others(13): Show |
16 | 74 | 0.2162 | 8 | c.16- others(23): 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(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02027.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0098 others(21): Show |
24 | 135 | 0.1778 | 8 | c.133 others(25): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMA16_chr4_163489690_163525539 | 163518494 | C | CTCCAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0099 a0001c0001t0001g0100 others(8): Show |
20 | 420 | 0.0476 | 8 | c.432 others(23): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TMBIM1_chr2_218269197_218297503 | 218280702 | C | CCCTGAAT others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18971.hp2 NA19074.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0008a0002c0001t0001 | a0001c0002t0008g0019 a0002c0001t0001g0108 |
4 | 353 | 0.0113 | 8 | c.203 others(23): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49749435 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02004.hp1 HG02080.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0010others(2): Show | a0001c0001t0001g0070 a0001c0002t0003g0016 a0001c0002t0003g0163 others(10): Show |
14 | 269 | 0.0520 | 8 | c.-30 others(25): 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(1): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02135.hp1 HG02293.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014a0001c0002t0025 | a0001c0002t0003g0016 a0001c0002t0003g0041 a0001c0002t0003g0163 others(9): Show |
13 | 182 | 0.0714 | 8 | c.*25 others(19): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 538 | chr12 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72570230 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0006a0001c0001t0014a0001c0001t0028others(7): Show | a0001c0001t0006g0099 a0001c0001t0014g0080 a0001c0001t0028g0165 others(8): Show |
11 | 55 | 0.2000 | 8 | 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 | 72584784 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0003t0001a0002c0002t0001 | a0001c0001t0004g0069 a0001c0003t0001g0072 a0002c0002t0001g0023 others(6): Show |
9 | 105 | 0.0857 | 8 | c.-30 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72603386 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0003 | a0001c0001t0012g0103 a0002c0002t0003g0100 |
2 | 70 | 0.0286 | 8 | 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 | 72606947 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0003t0001others(12): Show | a0001c0001t0004g0028 a0001c0001t0004g0069 a0001c0001t0006g0099 others(71): Show |
74 | 165 | 0.4485 | 8 | c.-30 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18991.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0007a0002c0002t0001 | a0001c0003t0007g0141 a0002c0002t0001g0038 |
2 | 162 | 0.0123 | 8 | c.-30 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19012.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0001 | a0001c0001t0012g0103 a0001c0001t0012g0104 a0001c0001t0012g0105 others(1): Show |
4 | 132 | 0.0303 | 8 | c.-30 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02258.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0014a0001c0001t0034a0001c0003t0013others(1): Show | a0001c0001t0014g0080 a0001c0001t0034g0093 a0001c0003t0013g0081 others(2): Show |
5 | 45 | 0.1111 | 8 | c.-30 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72609179 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00735.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0014others(10): Show | a0001c0001t0004g0028 a0001c0001t0012g0105 a0001c0001t0014g0080 others(29): Show |
32 | 54 | 0.5926 | 8 | c.-30 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp2 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0016others(8): Show | a0001c0001t0006g0099 a0001c0001t0015g0020 a0001c0001t0016g0022 others(54): Show |
57 | 129 | 0.4419 | 8 | c.-53 others(25): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683731 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp1 HG03453.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0038 others(4): Show |
7 | 103 | 0.0680 | 8 | c.17- others(23): 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(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0161 others(15): Show |
18 | 65 | 0.2769 | 8 | c.17- others(23): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72700713 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0034a0001c0003t0032 | a0001c0001t0034g0093 a0001c0003t0032g0095 |
2 | 104 | 0.0192 | 8 | c.362 others(22): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72725325 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01081.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0002g0128 a0001c0001t0002g0154 a0001c0001t0002g0168 others(5): Show |
8 | 85 | 0.0941 | 8 | c.363 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00735.hp1 others(44): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0001c0003t0006a0002c0002t0001others(3): Show | a0001c0003t0003g0106 a0001c0003t0003g0107 a0001c0003t0003g0108 others(44): Show |
47 | 129 | 0.3643 | 8 | c.642 others(23): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72802254 | T | TATACATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0011g0145 a0001c0001t0020g0071 a0001c0001t0021g0070 others(1): Show |
4 | 139 | 0.0288 | 8 | c.156 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72814896 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0037 | a0001c0001t0011g0134 a0001c0003t0037g0019 |
2 | 39 | 0.0513 | 8 | c.169 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72822514 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0030 | a0001c0001t0011g0145 a0001c0003t0030g0176 |
2 | 78 | 0.0256 | 8 | c.200 others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2545822 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00642.hp2 others(22): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0005a0001c0040others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0002others(10): Show | a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0006g0085 others(22): Show |
25 | 144 | 0.1736 | 8 | c.82+ others(23): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2553269 | C | CCTCTATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(71): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(25): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(34): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0074 others(71): Show |
74 | 342 | 0.2164 | 8 | c.83- others(23): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2579384 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18989.hp1 NA19007.hp1 others(2): Show |
a0002a0003a0006 | a0002c0002a0002c0004a0003c0007others(1): Show | a0002c0002t0001a0002c0004t0023a0003c0007t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0043 a0002c0004t0023g0142 others(2): Show |
5 | 303 | 0.0165 | 8 | c.727 others(23): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2581157 | A | ATGCTTAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02451.hp2 others(8): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0013a0003c0007others(5): Show | a0001c0001t0006a0001c0001t0009a0001c0013t0004others(6): Show | a0001c0001t0006g0049 a0001c0001t0006g0085 a0001c0001t0009g0170 others(8): Show |
11 | 342 | 0.0322 | 8 | c.834 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(58): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0035 others(58): Show |
61 | 170 | 0.3588 | 8 | c.835 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01496.hp2 others(20): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0198 others(20): Show |
23 | 272 | 0.0846 | 8 | c.835 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0007a0002c0002t0001others(4): Show | a0001c0001t0001g0086 a0001c0010t0007g0274 a0002c0002t0001g0065 others(10): Show |
13 | 28 | 0.4643 | 8 | c.835 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2598394 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(70): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0010others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(28): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0022 others(70): Show |
73 | 153 | 0.4771 | 8 | c.122 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611829 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01496.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0003t0003a0001c0013t0001others(6): Show | a0001c0001t0001g0086 a0001c0003t0003g0095 a0001c0013t0001g0010 others(6): Show |
9 | 323 | 0.0279 | 8 | c.159 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611866 | A | ATGGATGG others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01981.hp2 HG02015.hp1 others(7): Show |
a0002a0003a0009others(1): Show | a0002c0002a0003c0007a0009c0025others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0009others(5): Show | a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 others(7): Show |
10 | 332 | 0.0301 | 8 | c.159 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611886 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02622.hp1 HG02630.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0002others(5): Show | a0001c0001t0001g0005 a0001c0001t0006g0268 a0001c0005t0002g0297 others(6): Show |
9 | 169 | 0.0533 | 8 | c.159 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2629529 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01167.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(5): Show | a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0330 others(13): Show |
16 | 87 | 0.1839 | 8 | c.230 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01081.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0013t0001a0001c0013t0004others(6): Show | a0001c0001t0001g0074 a0001c0001t0001g0191 a0001c0001t0001g0333 others(15): Show |
18 | 54 | 0.3333 | 8 | c.238 others(25): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2647120 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01243.hp2 others(41): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0001g0218 a0001c0001t0004g0031 a0001c0001t0004g0275 others(41): Show |
44 | 115 | 0.3826 | 8 | c.*57 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 3541 | chr20 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81350432 | T | TTGTTTCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01123.hp2 others(76): Show |
a0001a0003a0004others(7): Show | a0001c0006a0003c0003a0003c0018others(9): Show | a0001c0006t0002a0001c0006t0006a0003c0003t0003others(14): Show | a0001c0006t0002g0177 a0001c0006t0002g0178 a0001c0006t0002g0182 others(60): Show |
79 | 388 | 0.2036 | 8 | c.108 others(25): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 10/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372349 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02572.hp2 NA19030.hp2 others(2): Show |
a0001a0002a0008 | a0001c0006a0002c0002a0008c0007 | a0001c0006t0002a0002c0002t0002a0008c0007t0004 | a0001c0006t0002g0134 a0001c0006t0002g0141 a0002c0002t0002g0082 others(2): Show |
5 | 32 | 0.1563 | 8 | c.236 others(23): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372870 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(86): Show |
a0001a0009a0015 | a0001c0001a0009c0010a0015c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(59): Show |
89 | 236 | 0.3771 | 8 | c.90- others(21): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 1/21 | chr15 | TogoVar |