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 | 62574579 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0050 a0001c0005t0001g0053 |
2 | 7 | 0.2857 | 18 | c.-23 others(39): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62582195 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02622.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0014a0001c0005t0001a0001c0007t0012others(1): Show | a0001c0002t0014g0143 a0001c0005t0001g0029 a0001c0007t0012g0054 others(1): Show |
4 | 67 | 0.0597 | 18 | c.-23 others(37): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62582246 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01952.hp1 HG02056.hp1 others(2): Show |
a0001a0002a0012 | a0001c0006a0001c0061a0002c0009others(2): Show | a0001c0006t0002a0001c0061t0001a0002c0009t0003others(2): Show | a0001c0006t0002g0009 a0001c0061t0001g0101 a0002c0009t0003g0058 others(2): Show |
5 | 103 | 0.0485 | 18 | c.-23 others(37): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62664875 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0038 | a0002c0038t0019 | a0002c0038t0019g0077 | 1 | 133 | 0.0075 | 18 | c.788 others(35): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62673072 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01255.hp1 HG01952.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0006others(9): Show | a0001c0002t0004a0001c0002t0024a0001c0005t0043others(10): Show | a0001c0002t0004g0085 a0001c0002t0024g0004 a0001c0005t0043g0055 others(12): Show |
15 | 36 | 0.4167 | 18 | c.789 others(33): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62689877 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0004 | 1 | 47 | 0.0213 | 18 | c.111 others(37): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 12/58 | chr15 | TogoVar | |||||||
TLN2_chr15_62385550_62849631 | 62741748 | C | CGCGCGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 |
a0001a0002 | a0001c0060a0002c0022 | a0001c0060t0041a0002c0022t0006 | a0001c0060t0041g0017 a0002c0022t0006g0027 |
2 | 8 | 0.2500 | 18 | c.402 others(35): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 32/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62839071 | G | GTTTATTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 NA21309.hp1 |
a0001a0002 | a0001c0023a0002c0009 | a0001c0023t0013a0002c0009t0013 | a0001c0023t0013g0036 a0002c0009t0013g0121 |
2 | 142 | 0.0141 | 18 | c.750 others(34): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 58/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLR10_chr4_38767238_38787990 | 38770687 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0010 | 1 | 219 | 0.0046 | 18 | c.*24 others(29): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1550 | chr4 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38770687 | C | CCTATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01361.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 8 | 226 | 0.0354 | 18 | c.*24 others(29): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1550 | chr4 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38771085 | T | TATATAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0008 | a0008c0017 | a0008c0017t0007 | a0008c0017t0007g0128 | 1 | 425 | 0.0024 | 18 | c.*20 others(29): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1152 | chr4 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38771124 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01169.hp1 others(23): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0006a0003c0010others(3): Show | a0002c0002t0002a0003c0006t0003a0003c0010t0011others(3): Show | a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0033 others(10): Show |
26 | 226 | 0.1150 | 18 | c.*20 others(29): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1113 | chr4 | TogoVar | |||||||
TLR1_chr4_38791255_38809791 | 38792853 | T | TTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG03486.hp1 |
a0001a0007 | a0001c0001a0001c0008a0007c0007 | a0001c0001t0001a0001c0008t0005a0007c0007t0001 | a0001c0001t0001g0060 a0001c0008t0005g0010 a0007c0007t0001g0020 |
3 | 224 | 0.0134 | 18 | c.*36 others(29): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 3401 | chr4 | TogoVar | |||||||
TLR1_chr4_38791255_38809791 | 38792853 | T | TTTTATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0014 | 1 | 222 | 0.0045 | 18 | c.*36 others(29): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 3401 | chr4 | TogoVar | |||||||
TLR4_chr9_117699403_117729735 | 117724889 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0011a0001c0001t0028others(1): Show | a0001c0001t0006g0004 a0001c0001t0011g0005 a0001c0001t0028g0002 others(1): Show |
6 | 95 | 0.0632 | 18 | c.*10 others(31): Show |
TLR4 | ENSG00000136869.16 | transcript | ENST00000355622.8 | protein_coding | 155 | chr9 | TogoVar | |||||||
TLR7_chrX_12862072_12895361 | 12892000 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 41 | 0.0244 | 18 | c.*33 others(29): Show |
TLR7 | ENSG00000196664.5 | transcript | ENST00000380659.4 | protein_coding | 1640 | chrX | TogoVar | |||||||
TLR8_chrX_12901620_12928169 | 12915642 | T | TGGCAAGC others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 |
a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0059 a0001c0018t0007g0070 |
2 | 301 | 0.0066 | 18 | c.4-3 others(31): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TLR9_chr3_52216080_52230645 | 52220303 | A | AAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 169 | 0.0059 | 18 | c.*91 others(27): Show |
TLR9 | ENSG00000239732.4 | transcript | ENST00000360658.3 | protein_coding | 776 | chr3 | TogoVar | |||||||
TLX3_chr5_171304248_171317139 | 171313352 | T | TTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 23 | 0.0435 | 18 | c.*17 others(29): Show |
TLX3 | ENSG00000164438.6 | transcript | ENST00000296921.6 | protein_coding | 1214 | chr5 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 219 | 0.0046 | 18 | c.513 others(35): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0156 |
2 | 220 | 0.0091 | 18 | c.513 others(35): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 219 | 0.0046 | 18 | c.513 others(35): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691932 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 219 | 0.0046 | 18 | c.513 others(35): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196341767 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0203 |
2 | 34 | 0.0588 | 18 | c.-35 others(29): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 3380 | chr3 | TogoVar | |||||||
TM4SF1_chr3_149364022_149382649 | 149374115 | T | TTGCATAC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(123): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(14): Show |
126 | 431 | 0.2923 | 18 | c.413 others(35): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
TM4SF1_chr3_149364022_149382649 | 149374115 | T | TTGCATAC others(11): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 306 | 0.0033 | 18 | c.413 others(35): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
TM4SF20_chr2_227357038_227384306 | 227368331 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01516.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0053 a0001c0001t0003g0111 a0001c0001t0003g0138 others(4): Show |
8 | 422 | 0.0190 | 18 | c.250 others(35): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
TM9SF2_chr13_99496472_99569048 | 99508404 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03098.hp1 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0002t0004g0260 |
3 | 64 | 0.0469 | 18 | c.171 others(35): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123199 | G | GGGGGAGG others(11): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 243 | 0.0041 | 18 | c.16- others(33): 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(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02698.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0001g0113 others(2): Show |
5 | 55 | 0.0909 | 18 | c.16- others(33): 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(11): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0106 a0001c0001t0014g0072 |
2 | 52 | 0.0385 | 18 | c.16- others(33): 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(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02965.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0245 |
3 | 24 | 0.1250 | 18 | c.16- others(33): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 233 | 0.0043 | 18 | c.177 others(37): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMA7_chr3_48435257_48449208 | 48437984 | C | CTTGACAC others(11): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 390 | 0.0026 | 18 | c.-23 others(29): Show |
TMA7 | ENSG00000232112.3 | transcript | ENST00000438607.2 | protein_coding | 2272 | chr3 | TogoVar | |||||||
TMBIM4_chr12_66130846_66174996 | 66155335 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01978.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0084 others(4): Show |
7 | 131 | 0.0534 | 18 | c.98- others(33): Show |
TMBIM4 | ENSG00000155957.19 | transcript | ENST00000358230.8 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49745723 | T | TCAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 | 1 | 302 | 0.0033 | 18 | c.-31 others(35): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMBIM6_chr12_49736557_49769934 | 49745735 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03225.hp2 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0019 | 2 | 264 | 0.0076 | 18 | c.-31 others(35): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATAGAGA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0010 | 1 | 41 | 0.0244 | 18 | c.-30 others(37): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATATAGA others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03540.hp2 NA19056.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0004t0008a0001c0004t0010 | a0001c0003t0009g0018 a0001c0004t0008g0011 a0001c0004t0010g0116 |
3 | 43 | 0.0698 | 18 | c.-30 others(37): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG02698.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0008a0001c0005t0010 | a0001c0004t0008g0006 a0001c0004t0008g0015 a0001c0005t0010g0002 |
3 | 43 | 0.0698 | 18 | c.-30 others(37): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72650872 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0006a0001c0003t0007 | a0001c0003t0005g0085 a0001c0003t0005g0086 a0001c0003t0005g0088 others(5): Show |
8 | 173 | 0.0462 | 18 | c.16+ others(33): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72842375 | C | CGGAGAGG others(11): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0080 | 1 | 96 | 0.0104 | 18 | c.*64 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4079 | chr9 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02155.hp1 others(33): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0003others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 others(33): Show |
36 | 145 | 0.2483 | 18 | c.835 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG04115.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0003t0005a0002c0008t0005 | a0001c0001t0001g0139 a0001c0003t0005g0234 a0002c0008t0005g0094 |
3 | 252 | 0.0119 | 18 | c.835 others(35): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02109.hp2 others(11): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0074 a0001c0001t0001g0150 a0001c0001t0001g0300 others(11): Show |
14 | 29 | 0.4828 | 18 | c.835 others(35): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2594225 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0010 | 1 | 250 | 0.0040 | 18 | c.934 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03669.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0035 a0002c0002t0001g0125 |
2 | 38 | 0.0526 | 18 | c.238 others(35): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636478 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0041 | a0001c0041t0005 | a0001c0041t0005g0261 | 1 | 342 | 0.0029 | 18 | c.238 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 28 | 0.0357 | 18 | c.236 others(33): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54177151 | A | AAATACTA others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(116): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0012a0002c0002others(12): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0002others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(114): Show |
119 | 180 | 0.6611 | 18 | c.-40 others(29): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3992 | chr19 | TogoVar |