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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLX3_chr5_171304248_171317139 | 171313352 | T | TTCTCTCT others(5): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03225.hp2 NA19030.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0002 | a0001c0001t0002g0006 a0003c0006t0002g0002 |
3 | 402 | 0.0075 | 12 | c.*17 others(23): Show |
TLX3 | ENSG00000164438.6 | transcript | ENST00000296921.6 | protein_coding | 1214 | chr5 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61701556 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02615.hp2 HG02647.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(11): Show |
14 | 388 | 0.0361 | 12 | c.348 others(27): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61706834 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0080 others(1): Show |
4 | 388 | 0.0103 | 12 | c.347 others(29): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196341767 | G | GTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0274 |
2 | 370 | 0.0054 | 12 | c.-35 others(23): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 3380 | chr3 | TogoVar | |||||||
TM4SF20_chr2_227357038_227384306 | 227368331 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0353 a0003c0003t0003g0274 |
2 | 470 | 0.0043 | 12 | c.250 others(29): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
TM4SF4_chr3_149469697_149508394 | 149491295 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0164 a0001c0002t0004g0172 |
2 | 420 | 0.0048 | 12 | c.401 others(29): Show |
TM4SF4 | ENSG00000169903.7 | transcript | ENST00000305354.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TM4SF4_chr3_149469697_149508394 | 149507124 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0212 | 1 | 420 | 0.0024 | 12 | c.*44 others(23): Show |
TM4SF4 | ENSG00000169903.7 | transcript | ENST00000305354.5 | protein_coding | 3731 | chr3 | TogoVar | |||||||
TM6SF1_chr15_83102645_83142408 | 83106510 | T | TAATAAAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0090 |
3 | 290 | 0.0103 | 12 | c.-11 others(23): Show |
TM6SF1 | ENSG00000136404.16 | transcript | ENST00000322019.14 | protein_coding | 1134 | chr15 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19265360 | T | TTCTATCT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0063 others(4): Show |
10 | 396 | 0.0253 | 12 | c.925 others(27): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19265406 | C | CTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0143 others(3): Show |
6 | 396 | 0.0152 | 12 | c.925 others(27): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19272692 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0133 |
2 | 396 | 0.0051 | 12 | c.95+ others(25): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19272728 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 396 | 0.0025 | 12 | c.95+ others(25): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26985652 | A | AAAATATA others(5): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03516.hp2 NA19240.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0006 a0003c0003t0009g0235 |
4 | 430 | 0.0093 | 12 | c.869 others(29): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 6/11 | chr12 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26985678 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0233 | 1 | 430 | 0.0023 | 12 | c.869 others(29): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 6/11 | chr12 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26988672 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02615.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0010 a0001c0001t0003g0057 a0001c0001t0003g0077 others(4): Show |
8 | 430 | 0.0186 | 12 | c.868 others(29): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 6/11 | chr12 | TogoVar | |||||||
TM9SF2_chr13_99496472_99569048 | 99508404 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01516.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 others(11): Show |
16 | 332 | 0.0482 | 12 | c.171 others(29): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TM9SF2_chr13_99496472_99569048 | 99508443 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 332 | 0.0030 | 12 | c.171 others(29): 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(5): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01516.hp1 HG01978.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0066 others(11): Show |
16 | 348 | 0.0460 | 12 | c.118 others(29): Show |
TM9SF3 | ENSG00000077147.16 | transcript | ENST00000371142.9 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32123190 | A | AGAGGGGG others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 298 | 0.0034 | 12 | c.16- others(27): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123199 | G | GGGGGAGG others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0291 a0001c0003t0009g0293 |
2 | 298 | 0.0067 | 12 | c.16- others(27): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123199 | G | GGGGGGAG others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 298 | 0.0034 | 12 | c.16- others(27): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123845 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 298 | 0.0034 | 12 | c.16- others(27): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 298 | 0.0067 | 12 | c.16- others(27): 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(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0116 others(16): Show |
19 | 298 | 0.0638 | 12 | c.16- others(27): 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(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01109.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 others(15): Show |
18 | 298 | 0.0604 | 12 | c.16- others(27): 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(5): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 298 | 0.0034 | 12 | c.16- others(27): 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(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0041 others(10): Show |
13 | 298 | 0.0436 | 12 | c.133 others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32159238 | A | AAAAATGC others(5): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0011 | 1 | 298 | 0.0034 | 12 | c.156 others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 298 | 0.0034 | 12 | c.177 others(31): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMBIM1_chr2_218269197_218297503 | 218293462 | G | GAACAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 356 | 0.0028 | 12 | c.-10 others(23): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 960 | chr2 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49749435 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0042 a0001c0002t0006g0179 a0001c0002t0006g0180 others(2): Show |
6 | 304 | 0.0197 | 12 | c.-30 others(29): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMBIM6_chr12_49736557_49769934 | 49749441 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0039 a0001c0002t0002g0135 a0001c0002t0002g0141 others(3): Show |
7 | 304 | 0.0230 | 12 | c.-30 others(29): 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(5): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0009a0001c0005t0021 | a0001c0002t0009g0165 a0001c0005t0021g0186 |
2 | 304 | 0.0066 | 12 | c.*25 others(23): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 538 | chr12 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72570230 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01346.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0018a0001c0003t0003a0001c0004t0008 | a0001c0001t0018g0115 a0001c0003t0003g0110 a0001c0004t0008g0004 |
3 | 182 | 0.0165 | 12 | 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 | 72577545 | C | CCTGATTC others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0032a0001c0003t0033 | a0001c0003t0006g0096 a0001c0003t0006g0097 a0001c0003t0006g0098 others(3): Show |
6 | 182 | 0.0330 | 12 | 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 | 72606996 | T | TAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0088 | 1 | 182 | 0.0055 | 12 | 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 | 72607000 | T | TAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0022a0001c0003t0024 | a0001c0003t0022g0090 a0001c0003t0024g0030 |
2 | 182 | 0.0110 | 12 | 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 | 72607002 | T | TAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0120 | 1 | 182 | 0.0055 | 12 | 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 | 72609179 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00735.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0016a0001c0003t0001a0001c0003t0003others(5): Show | a0001c0001t0016g0118 a0001c0003t0001g0073 a0001c0003t0003g0106 others(22): Show |
25 | 182 | 0.1374 | 12 | 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 | 72636707 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0009a0001c0003t0035 | a0001c0003t0006g0096 a0001c0003t0009g0013 a0001c0003t0035g0008 |
3 | 182 | 0.0165 | 12 | c.-53 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72650890 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0076 | 1 | 182 | 0.0055 | 12 | c.16+ others(27): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | chr9 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72683731 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 HG03239.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0013a0002c0002t0001 | a0001c0003t0013g0082 a0002c0002t0001g0023 a0002c0002t0001g0027 others(4): Show |
7 | 182 | 0.0385 | 12 | c.17- others(27): 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(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02109.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0036others(2): Show | a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0004g0031 others(4): Show |
7 | 182 | 0.0385 | 12 | c.17- others(27): 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(5): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 182 | 0.0055 | 12 | c.363 others(31): 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(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03834.hp2 HG06807.hp2 others(2): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0006 | a0001c0003t0007a0002c0002t0015a0004c0006t0001 | a0001c0003t0007g0180 a0001c0003t0007g0181 a0001c0003t0007g0182 others(2): Show |
5 | 182 | 0.0275 | 12 | c.642 others(27): 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(5): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0014a0001c0003t0014others(1): Show | a0001c0001t0011g0134 a0001c0001t0011g0151 a0001c0001t0014g0080 others(2): Show |
5 | 182 | 0.0275 | 12 | c.156 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72842375 | C | CGGAGAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03516.hp2 NA18965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0003t0022a0002c0002t0001 | a0001c0001t0011g0145 a0001c0003t0022g0090 a0002c0002t0001g0046 others(1): Show |
4 | 182 | 0.0220 | 12 | c.*64 others(23): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4079 | chr9 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2545822 | G | GAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp1 HG02109.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0015 a0001c0001t0004g0298 a0001c0001t0006g0055 others(21): Show |
24 | 344 | 0.0698 | 12 | c.82+ others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2545822 | G | GAAGGAAG others(5): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0280 | 1 | 344 | 0.0029 | 12 | c.82+ others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2545920 | T | TGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02717.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0007a0001c0010t0008a0001c0013t0004others(3): Show | a0001c0001t0007g0275 a0001c0010t0008g0274 a0001c0013t0004g0271 others(3): Show |
6 | 344 | 0.0174 | 12 | c.82+ others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |