regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPO_chr2_1408463_1548673 | 1489933 | A | AGGAGTCA others(43): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04184.hp1 |
a0004a0015 | a0004c0005a0015c0031 | a0004c0005t0007a0015c0031t0001 | a0004c0005t0007g0076a0015c0031t0001g0105 | 2 | 130 | 0.0154 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1489933 | A | AGGAGTCA others(43): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0013a0002c0002t0014 | a0002c0002t0003g0053a0002c0002t0013g0119a0002c0002t0014g0008 | 3 | 130 | 0.0231 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1489968 | T | TGGGTCCC others(43): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0003a0006c0009t0001 | a0002c0002t0003g0053a0006c0009t0001g0123 | 2 | 130 | 0.0154 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490040 | G | GCGACACA others(43): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18985.hp1 NA18985.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0003a0002c0015t0004 | a0001c0001t0001g0047a0002c0002t0003g0095a0002c0015t0004g0112 | 3 | 130 | 0.0231 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490068 | A | AGGGTCCC others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0006 | a0006c0009 | a0006c0009t0006 | a0006c0009t0006g0084 | 1 | 130 | 0.0077 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490168 | T | TGGGTCCC others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0006 | a0006c0009 | a0006c0009t0006 | a0006c0009t0006g0084 | 1 | 130 | 0.0077 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490183 | G | GGGAGTCA others(43): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0014 | a0014c0030 | a0014c0030t0004 | a0014c0030t0004g0115 | 1 | 130 | 0.0077 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490368 | T | TGGGTCCC others(43): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0093 | 1 | 130 | 0.0077 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490377 | C | CACAGGGG others(43): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 1 | 130 | 0.0077 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1490461 | C | CGCCACGA others(43): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
a0008a0009 | a0008c0011a0008c0016a0008c0028others(1): Show | a0008c0011t0006a0008c0011t0015a0008c0016t0003others(2): Show | a0008c0011t0006g0048a0008c0011t0006g0092a0008c0011t0015g0120others(3): Show | 6 | 130 | 0.0462 | 50 | c.176 others(69): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1530250 | A | AATCCCCC others(43): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18612.hp2 |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0096a0003c0006t0004g0097 | 2 | 130 | 0.0154 | 50 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPSD1_chr16_1251069_1264008 | 1260689 | G | GAGCCCGG others(43): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(128): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(49): Show | a0001c0001t0001g0001a0001c0001t0004g0001a0001c0001t0010g0001others(50): Show | 131 | 270 | 0.4852 | 50 | c.*23 others(61): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1682 | chr16 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1260689 | G | GAGCCCGG others(43): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0018 | 1 | 270 | 0.0037 | 50 | c.*23 others(61): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1682 | chr16 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1260705 | G | GTCCACAC others(43): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 NA18945.hp2 NA18967.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0002 | a0001c0001t0011g0001a0002c0002t0002g0002 | 5 | 270 | 0.0185 | 50 | c.*23 others(61): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1698 | chr16 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1260738 | A | ACAGCCCG others(43): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0078 | a0004c0004t0078g0011 | 1 | 270 | 0.0037 | 50 | c.*23 others(61): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1731 | chr16 | TogoVar | ||||||
TRAF3IP3_chr1_209751053_209787310 | 209765227 | G | GAGAGAGA others(43): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 | 1 | 444 | 0.0023 | 50 | c.702 others(67): Show |
TRAF3IP3 | ENSG00000009790.15 | transcript | ENST00000367025.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRAK1_chr3_42086357_42230890 | 42093664 | T | TCCCTCCC others(43): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0004 | a0004c0012 | a0004c0012t0006 | a0004c0012t0006g0283a0004c0012t0006g0284 | 2 | 288 | 0.0069 | 50 | c.91+ others(65): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRAK1_chr3_42086357_42230890 | 42093664 | T | TCCCTTCC others(43): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02647.hp1 |
a0003 | a0003c0013 | a0003c0013t0005a0003c0013t0006 | a0003c0013t0005g0145a0003c0013t0006g0147a0003c0013t0006g0148 | 3 | 288 | 0.0104 | 50 | c.91+ others(65): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRAK1_chr3_42086357_42230890 | 42093664 | T | TCCCTTCC others(43): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02040.hp2 HG03239.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0002g0247a0001c0001t0004g0257a0001c0001t0013g0202others(4): Show | 7 | 288 | 0.0243 | 50 | c.91+ others(65): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRAK1_chr3_42086357_42230890 | 42093664 | T | TCCCTTCC others(43): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 HG02165.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0178a0001c0001t0002g0230a0001c0001t0002g0231others(3): Show | 6 | 288 | 0.0208 | 50 | c.91+ others(65): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRAK1_chr3_42086357_42230890 | 42093664 | T | TCCCTTCC others(43): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0271a0001c0003t0003g0188 | 2 | 288 | 0.0069 | 50 | c.91+ others(65): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRIM16_chr17_15622966_15689311 | 15680790 | T | TAAGAATG others(43): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0276 | 1 | 360 | 0.0028 | 50 | c.-59 others(65): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273258 | A | ATATATAT others(43): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 272 | 0.0037 | 50 | c.*28 others(61): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2145 | chr11 | TogoVar | ||||||
TRIM4_chr7_99885403_99924530 | 99888349 | T | TACCTCCC others(43): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 322 | 0.0031 | 50 | c.*38 others(61): Show |
TRIM4 | ENSG00000146833.16 | transcript | ENST00000349062.7 | protein_coding | 2053 | chr7 | TogoVar | ||||||
TRIM4_chr7_99885403_99924530 | 99888349 | T | TACCTCCC others(43): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 NA19083.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0002a0002c0004t0001g0129 | 2 | 322 | 0.0062 | 50 | c.*38 others(61): Show |
TRIM4 | ENSG00000146833.16 | transcript | ENST00000349062.7 | protein_coding | 2053 | chr7 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 390 | 0.0026 | 50 | c.308 others(67): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 390 | 0.0026 | 50 | c.308 others(67): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 390 | 0.0026 | 50 | c.308 others(67): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(43): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 390 | 0.0026 | 50 | c.308 others(67): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188151377 | G | GTGAGAGG others(43): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 228 | 0.0044 | 50 | c.*40 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 3635 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188151823 | T | TGAGAGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0059 | 1 | 228 | 0.0044 | 50 | c.*44 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4081 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188151827 | A | AGAGGGGG others(43): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0168 | 1 | 228 | 0.0044 | 50 | c.*44 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4085 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152155 | T | TGAGAGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 228 | 0.0044 | 50 | c.*47 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4413 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152353 | A | AGGGGGTG others(43): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 228 | 0.0044 | 50 | c.*49 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4611 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152453 | A | AGGGTGAG others(43): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 228 | 0.0044 | 50 | c.*50 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4711 | chr4 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152740 | A | AGGGGGGT others(43): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0059 | 1 | 228 | 0.0044 | 50 | c.*53 others(61): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4998 | chr4 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35097758 | C | CACATGTG others(43): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 334 | 0.0030 | 50 | c.-49 others(61): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4952 | chr20 | TogoVar | ||||||
TRPC4_chr13_37627063_37874772 | 37745458 | A | ATATATGC others(43): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0165 | 1 | 286 | 0.0035 | 50 | c.897 others(65): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
TRPC4_chr13_37627063_37874772 | 37796929 | A | AAAAATAA others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 286 | 0.0035 | 50 | c.-27 others(69): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(43): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 286 | 0.0035 | 50 | c.-27 others(69): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(43): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02895.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0238a0001c0001t0003g0118a0001c0001t0004g0123 | 3 | 286 | 0.0105 | 50 | c.-27 others(69): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(43): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0247 | 1 | 286 | 0.0035 | 50 | c.-27 others(69): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
TRPC5_chrX_111763011_112087776 | 111842120 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0136 | 1 | 161 | 0.0062 | 50 | c.170 others(69): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 6/10 | chrX | TogoVar | ||||||
TRPC6_chr11_101446564_101589007 | 101499763 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120 | 1 | 252 | 0.0040 | 50 | c.945 others(67): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 2/12 | chr11 | TogoVar | ||||||
TRPC6_chr11_101446564_101589007 | 101558409 | A | ATGTATAC others(43): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0024others(1): Show | a0001c0001t0003g0170a0001c0001t0003g0178a0001c0001t0003g0179others(6): Show | 9 | 252 | 0.0357 | 50 | c.170 others(69): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2091311 | G | GCTGCCGG others(43): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0073 | 1 | 318 | 0.0031 | 50 | c.*27 others(61): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1821 | chr16 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2091315 | C | CCGGGGCG others(43): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 NA19030.hp2 |
a0001 | a0001c0002a0001c0037 | a0001c0002t0002a0001c0037t0027 | a0001c0002t0002g0288a0001c0037t0027g0059 | 2 | 318 | 0.0063 | 50 | c.*27 others(61): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1825 | chr16 | TogoVar | ||||||
TSG101_chr11_18475311_18531942 | 18499402 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 406 | 0.0025 | 50 | c.640 others(67): Show |
TSG101 | ENSG00000074319.13 | transcript | ENST00000251968.4 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142326480 | T | TGAGACGG others(43): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 238 | 0.0042 | 50 | c.893 others(67): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 6/13 | chr8 | TogoVar | ||||||
TSN_chr2_121750651_121772853 | 121769872 | T | TAAAAAAA others(43): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0002 | 1 | 390 | 0.0026 | 50 | c.*45 others(61): Show |
TSN | ENSG00000211460.12 | transcript | ENST00000389682.8 | protein_coding | 2020 | chr2 | TogoVar |