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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM240_chr1_1529778_1545624 | 1543725 | C | CCTCTGTC others(45): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0009a0001c0001t0015g0103 | 2 | 428 | 0.0047 | 52 | c.-33 others(63): Show |
TMEM240 | ENSG00000205090.10 | transcript | ENST00000378733.9 | protein_coding | 3102 | chr1 | TogoVar | ||||||
TMEM260_chr14_56574798_56654515 | 56638638 | A | AATGAGGC others(45): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0258 | 1 | 364 | 0.0028 | 52 | c.186 others(71): Show |
TMEM260 | ENSG00000070269.14 | transcript | ENST00000261556.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM37_chr2_119426854_119443504 | 119437138 | G | GTACGCAG others(45): Show |
frameshift_variant | HIGH | NA18979.hp2 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0001 | 1 | 432 | 0.0023 | 52 | c.272 others(59): Show |
p.Leu others(5): Show |
TMEM37 | ENSG00000171227.7 | transcript | ENST00000306406.5 | protein_coding | 2/2 | 374/1687 | 324/573 | 108/190 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
TMEM63C_chr14_77176798_77264495 | 77221115 | T | TCCCCTCC others(45): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 322 | 0.0031 | 52 | c.312 others(69): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77221126 | T | TCTCGCCT others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0031 | 1 | 322 | 0.0031 | 52 | c.312 others(69): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 5/23 | chr14 | TogoVar | ||||||
TMEM63C_chr14_77176798_77264495 | 77221158 | C | CCACTCTC others(45): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0036 | 1 | 322 | 0.0031 | 52 | c.312 others(69): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77229613 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 322 | 0.0031 | 52 | c.351 others(69): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77236123 | G | GGGGAGTC others(45): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0302 | 1 | 322 | 0.0031 | 52 | c.543 others(67): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77236212 | G | GGGGAGAC others(45): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 322 | 0.0031 | 52 | c.543 others(67): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM65_chr8_124301189_124377701 | 124302600 | A | AATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0231 | 1 | 348 | 0.0029 | 52 | c.*11 others(65): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3588 | chr8 | TogoVar | ||||||
TMEM65_chr8_124301189_124377701 | 124302617 | A | ATATTTAT others(45): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 348 | 0.0029 | 52 | c.*11 others(65): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3571 | chr8 | TogoVar | ||||||
TMEM74_chr8_108773974_108792594 | 108775141 | T | TATAATAA others(45): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 410 | 0.0024 | 52 | c.*90 others(63): Show |
TMEM74 | ENSG00000164841.5 | transcript | ENST00000297459.4 | protein_coding | 3832 | chr8 | TogoVar | ||||||
TMEM94_chr17_75451635_75505452 | 75465679 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0277 | 1 | 354 | 0.0028 | 52 | c.-10 others(71): Show |
TMEM94 | ENSG00000177728.17 | transcript | ENST00000314256.12 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMEM98_chr17_32923153_32949315 | 32948020 | C | CCCTTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 402 | 0.0025 | 52 | c.*70 others(63): Show |
TMEM98 | ENSG00000006042.12 | transcript | ENST00000579849.6 | protein_coding | 3706 | chr17 | TogoVar | ||||||
TMEM98_chr17_32923153_32949315 | 32948020 | C | CCCTTCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 402 | 0.0025 | 52 | c.*70 others(63): Show |
TMEM98 | ENSG00000006042.12 | transcript | ENST00000579849.6 | protein_coding | 3706 | chr17 | TogoVar | ||||||
TMEM98_chr17_32923153_32949315 | 32948022 | C | CTTCCTTC others(45): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0066a0001c0001t0004g0003 | 4 | 402 | 0.0100 | 52 | c.*70 others(63): Show |
TMEM98 | ENSG00000006042.12 | transcript | ENST00000579849.6 | protein_coding | 3708 | chr17 | TogoVar | ||||||
TMEM98_chr17_32923153_32949315 | 32948026 | C | CTTCCTTC others(45): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02129.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0003g0004others(3): Show | 7 | 402 | 0.0174 | 52 | c.*70 others(63): Show |
TMEM98 | ENSG00000006042.12 | transcript | ENST00000579849.6 | protein_coding | 3712 | chr17 | TogoVar | ||||||
TMEM98_chr17_32923153_32949315 | 32948030 | C | CTTCCTTC others(45): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG03130.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0027a0001c0001t0003g0004others(1): Show | 5 | 402 | 0.0124 | 52 | c.*70 others(63): Show |
TMEM98 | ENSG00000006042.12 | transcript | ENST00000579849.6 | protein_coding | 3716 | chr17 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCCCCCC others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 114 | 0.0088 | 52 | c.-25 others(71): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TMSB15C_chrX_104067887_104081236 | 104071438 | A | AAGAAAGA others(45): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 94 | 0.0106 | 52 | c.*18 others(63): Show |
TMSB15C | ENSG00000269226.8 | transcript | ENST00000598087.4 | protein_coding | 1448 | chrX | TogoVar | ||||||
TMTC1_chr12_29495840_29788942 | 29643432 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01167.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0029a0001c0001t0065a0001c0002t0001others(11): Show | a0001c0001t0029g0047a0001c0001t0029g0048a0001c0001t0065g0208others(13): Show | 16 | 276 | 0.0580 | 52 | c.939 others(71): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
TNFRSF10B_chr8_23015133_23074031 | 23040298 | T | TAATATAT others(45): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 384 | 0.0026 | 52 | c.250 others(69): Show |
TNFRSF10B | ENSG00000120889.13 | transcript | ENST00000276431.9 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
TNFRSF13B_chr17_16934081_16977118 | 16939380 | T | TGCTTCCT others(45): Show |
3_prime_UTR_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0160 | 1 | 404 | 0.0025 | 52 | c.*16 others(61): Show |
TNFRSF13B | ENSG00000240505.9 | transcript | ENST00000261652.7 | protein_coding | 5/5 | 166 | chr17 | TogoVar | |||||
TNK2_chr3_195858364_195913551 | 195880923 | A | ACCCCCCC others(45): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0279 | 1 | 372 | 0.0027 | 52 | c.887 others(69): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189677331 | T | TTTATATA others(45): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0127 | 2 | 312 | 0.0064 | 52 | c.62+ others(69): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TPCN2_chr11_69043932_69095597 | 69092380 | C | CGGCTAAG others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0018a0002c0019others(32): Show | a0002c0002t0001a0002c0002t0023a0002c0002t0026others(57): Show | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0005others(212): Show | 267 | 404 | 0.6609 | 52 | c.*44 others(63): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 1784 | chr11 | TogoVar | ||||||
TPD52L1_chr6_125148773_125269407 | 125165092 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 320 | 0.0031 | 52 | c.19+ others(69): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TPD52L1_chr6_125148773_125269407 | 125172552 | A | ATACATAC others(45): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0315 | 1 | 320 | 0.0031 | 52 | c.19+ others(69): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1531871 | G | GCAACCTC others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18998.hp1 NA19011.hp2 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0005a0003c0003t0005a0004c0005t0005 | a0001c0001t0005g0073a0003c0003t0005g0043a0004c0005t0005g0071 | 3 | 130 | 0.0231 | 52 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1532491 | A | ACCTCCCA others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18998.hp1 NA19011.hp2 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0005a0003c0003t0005a0004c0005t0005 | a0001c0001t0005g0073a0003c0003t0005g0043a0004c0005t0005g0071 | 3 | 130 | 0.0231 | 52 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1535632 | C | CCCCCCAC others(45): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18962.hp1 |
a0002a0006 | a0002c0002a0006c0013 | a0002c0002t0009a0006c0013t0012 | a0002c0002t0009g0062a0006c0013t0012g0067 | 2 | 130 | 0.0154 | 52 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1537506 | C | CCCACTGT others(45): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp2 HG01928.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0003a0002c0002t0003a0002c0015t0003others(4): Show | a0001c0001t0003g0077a0001c0001t0003g0128a0002c0002t0003g0060others(8): Show | 11 | 130 | 0.0846 | 52 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1537506 | C | CCCACTGT others(45): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01975.hp2 HG02293.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0056a0002c0002t0003g0057a0002c0002t0003g0058 | 3 | 130 | 0.0231 | 52 | c.261 others(71): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRABD_chr22_50180913_50204595 | 50184969 | T | TGCATGCG others(45): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 52 | c.-10 others(63): Show |
TRABD | ENSG00000170638.10 | transcript | ENST00000380909.9 | protein_coding | 943 | chr22 | TogoVar | ||||||
TRAF3_chr14_102772449_102916500 | 102913870 | C | CACCGTGG others(45): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 296 | 0.0034 | 52 | c.*80 others(63): Show |
TRAF3 | ENSG00000131323.17 | transcript | ENST00000392745.8 | protein_coding | 2371 | chr14 | TogoVar | ||||||
TRAM2_chr6_52492408_52582060 | 52493373 | T | TATATATA others(45): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0351 | 1 | 378 | 0.0027 | 52 | c.*98 others(63): Show |
TRAM2 | ENSG00000065308.5 | transcript | ENST00000182527.4 | protein_coding | 4034 | chr6 | TogoVar | ||||||
TRANK1_chr3_36821819_36950054 | 36879629 | T | TATAAATA others(45): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0312 | 1 | 330 | 0.0030 | 52 | c.908 others(69): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 8/23 | chr3 | TogoVar | ||||||
TRH_chr3_129969720_129982935 | 129971770 | A | AAGGGAGG others(45): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02723.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0002a0001c0011t0002 | a0001c0003t0002g0005a0001c0011t0002g0005 | 3 | 416 | 0.0072 | 52 | c.-30 others(63): Show |
TRH | ENSG00000170893.4 | transcript | ENST00000302649.4 | protein_coding | 2949 | chr3 | TogoVar | ||||||
TRH_chr3_129969720_129982935 | 129971770 | A | AAGGGAGG others(45): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02896.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0002a0003c0006t0002 | a0001c0003t0002g0005a0003c0006t0002g0005 | 5 | 416 | 0.0120 | 52 | c.-30 others(63): Show |
TRH | ENSG00000170893.4 | transcript | ENST00000302649.4 | protein_coding | 2949 | chr3 | TogoVar | ||||||
TRIM16_chr17_15622966_15689311 | 15689006 | G | GGCAGATC others(45): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 360 | 0.0028 | 52 | c.-57 others(63): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 4696 | chr17 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0004 | a0004c0021 | a0004c0021t0039 | a0004c0021t0039g0318 | 1 | 390 | 0.0026 | 52 | c.308 others(69): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0222 | 2 | 390 | 0.0051 | 52 | c.308 others(69): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8622365 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0345 | 1 | 390 | 0.0026 | 52 | c.308 others(69): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 18/24 | chr11 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35097274 | C | CACATGTG others(45): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03486.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0171a0001c0005t0002g0184 | 2 | 334 | 0.0060 | 52 | c.-44 others(63): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4468 | chr20 | TogoVar | ||||||
TRPC5_chrX_111763011_112087776 | 111842120 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0019 | 1 | 161 | 0.0062 | 52 | c.170 others(71): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 6/10 | chrX | TogoVar | ||||||
TRPM6_chr9_74717495_74892921 | 74888393 | C | CTCTTTCT others(45): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0157 | 1 | 286 | 0.0035 | 52 | c.-53 others(61): Show |
TRPM6 | ENSG00000119121.22 | transcript | ENST00000360774.6 | protein_coding | 473 | chr9 | TogoVar | ||||||
TRPV3_chr17_3505502_3562812 | 3535254 | T | TCCTCCTC others(45): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03704.hp1 |
a0002a0011 | a0002c0014a0011c0094 | a0002c0014t0005a0011c0094t0001 | a0002c0014t0005g0006a0011c0094t0001g0326 | 2 | 404 | 0.0050 | 52 | c.784 others(67): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 7/17 | chr17 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2091282 | C | CGGGGCGG others(45): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0272 | 2 | 318 | 0.0063 | 52 | c.*26 others(63): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1792 | chr16 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2091293 | C | CCTACGAG others(45): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 318 | 0.0031 | 52 | c.*26 others(63): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1803 | chr16 | TogoVar | ||||||
TSEN34_chr19_54186308_54199532 | 54188015 | C | CAAAAAGA others(45): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 431 | 0.0023 | 52 | c.-33 others(63): Show |
TSEN34 | ENSG00000170892.13 | transcript | ENST00000396388.3 | protein_coding | 3292 | chr19 | TogoVar |