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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRIM62_chr1_33140399_33187043 | 33175001 | G | GTATTTAT others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0131 others(7): Show |
12 | 93 | 0.1290 | 30 | c.408 others(47): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
TRIM62_chr1_33140399_33187043 | 33180818 | A | AGGCCCCG others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0009a0001c0014t0002 | a0001c0002t0009g0180 a0001c0002t0009g0181 a0001c0014t0002g0182 |
3 | 338 | 0.0089 | 30 | c.408 others(45): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 173 | 0.0058 | 30 | c.308 others(47): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 173 | 0.0058 | 30 | c.308 others(47): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0333 | 1 | 173 | 0.0058 | 30 | c.308 others(47): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01361.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0140 others(1): Show |
4 | 176 | 0.0227 | 30 | c.308 others(47): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02155.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0012 a0001c0001t0001g0089 a0001c0001t0001g0332 others(1): Show |
5 | 177 | 0.0282 | 30 | c.308 others(47): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8628636 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0305 | 1 | 180 | 0.0056 | 30 | c.231 others(49): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 15/24 | chr11 | TogoVar | |||||||
TRIM69_chr15_44731528_44772827 | 44768654 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00741.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(18): Show |
25 | 67 | 0.3731 | 30 | c.*88 others(39): Show |
TRIM69 | ENSG00000185880.13 | transcript | ENST00000329464.9 | protein_coding | 828 | chr15 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14140186 | A | ATTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0060 | 1 | 33 | 0.0303 | 30 | c.-35 others(41): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 3155 | chr5 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14308323 | C | CCCATCCA others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01346.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0008others(14): Show | a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0002g0109 others(30): Show |
33 | 196 | 0.1684 | 30 | c.150 others(49): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 8/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIP12_chr2_229758837_229927009 | 229805222 | A | AAACAACA others(23): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0103 | 1 | 2 | 0.5000 | 30 | c.265 others(47): Show |
TRIP12 | ENSG00000153827.15 | transcript | ENST00000675903.1 | protein_coding | 18/41 | chr2 | TogoVar | |||||||
TRIP12_chr2_229758837_229927009 | 229864047 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 261 | 0.0038 | 30 | c.99- others(45): Show |
TRIP12 | ENSG00000153827.15 | transcript | ENST00000675903.1 | protein_coding | 2/41 | chr2 | TogoVar | |||||||
TRIP12_chr2_229758837_229927009 | 229864047 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 261 | 0.0038 | 30 | c.99- others(45): Show |
TRIP12 | ENSG00000153827.15 | transcript | ENST00000675903.1 | protein_coding | 2/41 | chr2 | TogoVar | |||||||
TRIP4_chr15_64382836_64460303 | 64431847 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0046 | 1 | 56 | 0.0179 | 30 | c.157 others(49): Show |
TRIP4 | ENSG00000103671.10 | transcript | ENST00000261884.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TRMT10B_chr9_37748805_37783972 | 37767513 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0276 |
3 | 11 | 0.2727 | 30 | c.421 others(45): Show |
TRMT10B | ENSG00000165275.10 | transcript | ENST00000297994.4 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRMT1_chr19_13099907_13121740 | 13109085 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 330 | 0.0030 | 30 | c.139 others(47): Show |
TRMT1 | ENSG00000104907.13 | transcript | ENST00000357720.9 | protein_coding | 12/16 | chr19 | TogoVar | |||||||
TRMT9B_chr8_12940673_13034777 | 13034521 | C | CTGATGCT others(23): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0232 | 1 | 382 | 0.0026 | 30 | c.*12 others(43): Show |
TRMT9B | ENSG00000250305.9 | transcript | ENST00000524591.7 | protein_coding | 4745 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72018205 | G | GTGTATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 138 | 0.0072 | 30 | c.*47 others(41): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 3044 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72018205 | G | GTGTGTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0281 | 1 | 138 | 0.0072 | 30 | c.*47 others(41): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 3044 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72018205 | G | GTGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0262 | 1 | 138 | 0.0072 | 30 | c.*47 others(41): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 3044 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72052965 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 227 | 0.0044 | 30 | c.164 others(47): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 13/26 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72052994 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 2 | 367 | 0.0054 | 30 | c.164 others(47): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 13/26 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72052994 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18963.hp1 |
a0001a0007 | a0001c0001a0007c0025 | a0001c0001t0001a0007c0025t0002 | a0001c0001t0001g0078 a0007c0025t0002g0079 |
2 | 367 | 0.0054 | 30 | c.164 others(47): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 13/26 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72052994 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 6 | 371 | 0.0162 | 30 | c.164 others(47): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 13/26 | chr8 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72052995 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 366 | 0.0027 | 30 | c.164 others(47): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 13/26 | chr8 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35086517 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 a0001c0001t0002g0154 |
2 | 328 | 0.0061 | 30 | c.168 others(47): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 1/18 | chr20 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35086527 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 323 | 0.0031 | 30 | c.168 others(47): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 1/18 | chr20 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37752075 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0245 | 1 | 22 | 0.0455 | 30 | c.379 others(47): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37796929 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00639.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037 a0001c0001t0001g0149 a0001c0001t0001g0181 others(34): Show |
37 | 121 | 0.3058 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02071.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0176 a0001c0001t0002g0206 a0001c0001t0002g0285 others(1): Show |
4 | 171 | 0.0234 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(23): Show |
intron_variant | MODIFIER | NA18965.hp2 NA19000.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0033 a0001c0001t0001g0166 a0001c0001t0045g0228 |
3 | 170 | 0.0176 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(23): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 |
2 | 169 | 0.0118 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37796968 | A | ATAAAATA others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 168 | 0.0060 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC4_chr13_37627063_37874772 | 37812176 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0019 a0001c0001t0026g0284 |
2 | 34 | 0.0588 | 30 | c.-27 others(49): Show |
TRPC4 | ENSG00000133107.15 | transcript | ENST00000379705.8 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
TRPC5OS_chrX_111871181_111908990 | 111881146 | G | GTTTATTT others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0133 | 1 | 159 | 0.0063 | 30 | c.-54 others(49): Show |
TRPC5OS | ENSG00000204025.8 | transcript | ENST00000635763.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TRPC5_chrX_111763011_112087776 | 111881146 | G | GTTTATTT others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0005 | 1 | 99 | 0.0101 | 30 | c.901 others(49): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 3/10 | chrX | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44440304 | C | CCAGCCTG others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG02273.hp1 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0007c0015t0002 | a0001c0001t0001g0019 a0001c0001t0001g0025 a0007c0015t0002g0002 |
3 | 41 | 0.0732 | 30 | c.427 others(47): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 30/31 | chr21 | TogoVar | |||||||
TRPM3_chr9_70524060_71126621 | 70980067 | G | GCACACAC others(23): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 |
a0001a0004 | a0001c0002a0004c0012 | a0001c0002t0002a0004c0012t0010 | a0001c0002t0002g0151 a0004c0012t0010g0150 |
2 | 12 | 0.1667 | 30 | c.178 others(51): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
TRPM5_chr11_2399515_2449514 | 2407077 | C | CCTCGGCC others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0044 | a0002c0044t0004 | a0002c0044t0004g0237 | 1 | 322 | 0.0031 | 30 | c.311 others(45): Show |
TRPM5 | ENSG00000070985.14 | transcript | ENST00000696290.1 | protein_coding | 25/28 | chr11 | TogoVar | |||||||
TRPM8_chr2_233912373_234024522 | 234021685 | T | TGACCAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0216 | 1 | 320 | 0.0031 | 30 | c.*44 others(41): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2164 | chr2 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3576668 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0016 | a0005c0016t0026 | a0005c0016t0026g0189 | 1 | 59 | 0.0169 | 30 | c.178 others(47): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3576668 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0212 | 1 | 59 | 0.0169 | 30 | c.178 others(47): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3614177 | T | TGGGAACC others(23): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0008 | a0001c0008t0021 | a0001c0008t0021g0323 | 1 | 390 | 0.0026 | 30 | c.-50 others(41): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 4767 | chr17 | TogoVar | |||||||
TRPV6_chr7_142866208_142890745 | 142873761 | A | AAAAAAGA others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 264 | 0.0038 | 30 | c.164 others(45): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 12/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRPV6_chr7_142866208_142890745 | 142890440 | A | ACACACAC others(23): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01106.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0002t0001g0004 others(29): Show |
68 | 92 | 0.7391 | 30 | c.-48 others(41): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 4696 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TSBP1_chr6_32287698_32376903 | 32367243 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0162 | 1 | 50 | 0.0200 | 30 | c.166 others(45): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 4/25 | chr6 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132908901 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02257.hp1 HG02630.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0014a0002c0002t0074 | a0002c0002t0012g0255 a0002c0002t0014g0247 a0002c0002t0014g0248 others(1): Show |
4 | 283 | 0.0141 | 30 | c.126 others(49): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
TSC2_chr16_2042985_2094491 | 2079172 | C | CCAACTTC others(23): Show |
splice_region_variant others(1): Show |
LOW | NA18997.hp1 | a0023 | a0023c0033 | a0023c0033t0001 | a0023c0033t0001g0109 | 1 | 316 | 0.0032 | 30 | c.310 others(41): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 27/41 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TSG101_chr11_18475311_18531942 | 18499402 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 27 | 0.0370 | 30 | c.640 others(47): Show |
TSG101 | ENSG00000074319.13 | transcript | ENST00000251968.4 | protein_coding | 7/9 | chr11 | TogoVar |