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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLN2_chr15_62385550_62849631 | 62631518 | C | CTTCCTTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01169.hp2 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0003t0040a0001c0005t0043others(8): Show | a0001c0001t0001g0134 a0001c0003t0040g0043 a0001c0005t0043g0055 others(11): Show |
14 | 105 | 0.1333 | 15 | c.-37 others(34): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 3/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62664857 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA19030.hp2 |
a0001a0002 | a0001c0023a0001c0061a0002c0022 | a0001c0023t0009a0001c0061t0001a0002c0022t0005 | a0001c0023t0009g0120 a0001c0061t0001g0101 a0002c0022t0005g0102 |
3 | 33 | 0.0909 | 15 | c.788 others(32): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62664875 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0070 | 1 | 133 | 0.0075 | 15 | c.788 others(32): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62677806 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01169.hp2 others(22): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0007a0001c0011others(10): Show | a0001c0003t0001a0001c0003t0040a0001c0007t0002others(14): Show | a0001c0003t0001g0006 a0001c0003t0001g0056 a0001c0003t0001g0122 others(22): Show |
25 | 44 | 0.5682 | 15 | c.957 others(32): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 11/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62825793 | A | AATATATA others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0091 | 1 | 126 | 0.0079 | 15 | c.700 others(34): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 54/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLNRD1_chr15_80995923_81010788 | 80997058 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00609.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0000 a0001c0003t0002g0000 |
25 | 227 | 0.1101 | 15 | c.-52 others(26): Show |
TLNRD1 | ENSG00000140406.4 | transcript | ENST00000267984.4 | protein_coding | 3864 | chr15 | TogoVar | |||||||
TLR4_chr9_117699403_117729735 | 117724889 | T | TACACACA others(8): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0039 | 1 | 90 | 0.0111 | 15 | c.*10 others(28): Show |
TLR4 | ENSG00000136869.16 | transcript | ENST00000355622.8 | protein_coding | 155 | chr9 | TogoVar | |||||||
TLR9_chr3_52216080_52230645 | 52220332 | A | AGAGAGAG others(8): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | 15 | c.*88 others(24): Show |
TLR9 | ENSG00000239732.4 | transcript | ENST00000360658.3 | protein_coding | 747 | chr3 | TogoVar | |||||||
TLR9_chr3_52216080_52230645 | 52220335 | G | GAGAGAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 1 | 370 | 0.0027 | 15 | c.*88 others(24): Show |
TLR9 | ENSG00000239732.4 | transcript | ENST00000360658.3 | protein_coding | 744 | chr3 | TogoVar | |||||||
TLX1_chr10_101126300_101142789 | 101127879 | G | GTTTATTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01168.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0002g0003 a0001c0001t0002g0015 others(6): Show |
31 | 127 | 0.2441 | 15 | c.-36 others(26): Show |
TLX1 | ENSG00000107807.13 | transcript | ENST00000370196.11 | protein_coding | 3420 | chr10 | TogoVar | |||||||
TLX2_chr2_74509450_74522148 | 74521343 | T | TTTTTCAG others(8): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 370 | 0.0027 | 15 | c.*51 others(26): Show |
TLX2 | ENSG00000115297.11 | transcript | ENST00000233638.8 | protein_coding | 4196 | chr2 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02027.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0137 a0001c0001t0001g0162 others(2): Show |
5 | 223 | 0.0224 | 15 | c.513 others(32): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18972.hp2 NA19009.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0150 others(2): Show |
5 | 223 | 0.0224 | 15 | c.513 others(32): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01433.hp1 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0068 others(6): Show |
11 | 229 | 0.0480 | 15 | c.513 others(32): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02132.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0145 a0001c0001t0001g0153 others(2): Show |
5 | 223 | 0.0224 | 15 | c.513 others(32): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18747.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0134 |
3 | 221 | 0.0136 | 15 | c.513 others(32): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196341767 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 33 | 0.0303 | 15 | c.-35 others(26): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 3380 | chr3 | TogoVar | |||||||
TM4SF4_chr3_149469697_149508394 | 149491295 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18953.hp1 NA18953.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0041 a0001c0003t0002g0020 a0001c0003t0002g0060 others(1): Show |
7 | 176 | 0.0398 | 15 | c.401 others(32): Show |
TM4SF4 | ENSG00000169903.7 | transcript | ENST00000305354.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TM9SF2_chr13_99496472_99569048 | 99508404 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 62 | 0.0161 | 15 | c.171 others(32): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32123178 | G | GGGGGGGA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 296 | 0.0034 | 15 | c.16- others(30): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123192 | A | AGGGGGAG others(8): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 225 | 0.0044 | 15 | c.16- others(30): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123198 | A | AGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 259 | 0.0039 | 15 | c.16- others(30): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123205 | A | AGGGGGGA others(8): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 232 | 0.0043 | 15 | c.16- others(30): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123218 | A | AGGGGGGA others(8): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 257 | 0.0039 | 15 | c.16- others(30): 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(8): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 51 | 0.0196 | 15 | c.16- others(30): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32162271 | T | TGGGAATG others(8): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 296 | 0.0034 | 15 | c.177 others(32): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0050 |
2 | 234 | 0.0085 | 15 | c.177 others(34): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18522.hp1 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 others(2): Show |
5 | 237 | 0.0211 | 15 | c.177 others(34): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0054 |
2 | 234 | 0.0085 | 15 | c.177 others(34): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 233 | 0.0043 | 15 | c.177 others(34): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | chr20 | TogoVar | |||||||
TMA16_chr4_163489690_163525539 | 163494181 | G | GGGGCAGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02056.hp1 HG02257.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0116 a0002c0002t0002g0121 |
6 | 273 | 0.0220 | 15 | c.-62 others(24): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 508 | chr4 | TogoVar | |||||||
TMA7_chr3_48435257_48449208 | 48441010 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0003g0018 |
11 | 386 | 0.0285 | 15 | c.160 others(30): Show |
TMA7 | ENSG00000232112.3 | transcript | ENST00000438607.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMBIM1_chr2_218269197_218297503 | 218281128 | T | TGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 354 | 0.0028 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0036 a0001c0004t0003g0037 a0001c0004t0003g0038 others(1): Show |
7 | 181 | 0.0387 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033 | 1 | 175 | 0.0057 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(40): Show |
a0001a0002a0008 | a0001c0003a0002c0001a0008c0008 | a0001c0003t0003a0001c0003t0006a0001c0003t0007others(2): Show | a0001c0003t0003g0004 a0001c0003t0003g0015 a0001c0003t0003g0023 others(18): Show |
43 | 217 | 0.1982 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 175 | 0.0057 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281135 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0001 | a0001c0003t0003g0008 a0001c0003t0003g0160 a0002c0001t0001g0072 |
8 | 354 | 0.0226 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281139 | T | TTTTGGTT others(8): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0133 | 1 | 214 | 0.0047 | 15 | c.202 others(30): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49745724 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0001g0070 a0001c0002t0003g0170 a0001c0002t0003g0171 others(12): Show |
16 | 271 | 0.0590 | 15 | c.-31 others(32): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72538394 | C | CTTGTATT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01070.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0003t0001others(7): Show | a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0014g0080 others(20): Show |
23 | 85 | 0.2706 | 15 | c.-42 others(36): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72823536 | A | ACAACAAC others(8): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 180 | 0.0056 | 15 | c.200 others(34): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 20/23 | chr9 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168793 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0277 | 1 | 208 | 0.0048 | 15 | c.443 others(30): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19436273 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01361.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0117 a0001c0001t0003g0012 a0001c0001t0004g0091 others(3): Show |
6 | 60 | 0.1000 | 15 | c.-79 others(32): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19493466 | T | TTTCTCTC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(127): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(127): Show |
130 | 326 | 0.3988 | 15 | c.282 others(32): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19496887 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0080 a0001c0001t0013g0114 |
2 | 49 | 0.0408 | 15 | c.293 others(32): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78108950 | T | TCTTCCGA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0033others(8): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(16): Show | a0001c0001t0004g0164 a0001c0001t0004g0250 a0001c0001t0004g0251 others(42): Show |
45 | 442 | 0.1018 | 15 | c.*41 others(26): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 20/20 | 4197 | chr17 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129726868 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0097 others(13): Show |
16 | 49 | 0.3265 | 15 | c.577 others(34): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC2_chr1_205222946_205278343 | 205237817 | G | GCACCCAG others(8): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 |
2 | 370 | 0.0054 | 15 | c.208 others(32): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94592661 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02132.hp2 others(11): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0002g0222 a0001c0002t0001g0104 a0001c0002t0001g0115 others(11): Show |
14 | 118 | 0.1186 | 15 | c.79- others(32): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar |