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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SWT1_chr1_185152167_185296781 | 185178737 | GCACTTCT others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0130 | 1 | 324 | 0.0031 | -50 | c.967 others(67): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 5/18 | chr1 | TogoVar | |||||||
SYAP1_chrX_16714612_16770340 | 16770167 | CTAAGACT others(43): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0124 | 1 | 288 | 0.0035 | -50 | c.*98 others(61): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 4828 | chrX | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 119007233 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0012a0002c0004t0007a0003c0002t0006others(2): Show | a0001c0001t0012g0208 a0002c0004t0007g0213 a0002c0004t0007g0301 others(3): Show |
6 | 287 | 0.0209 | -50 | c.106 others(69): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63313748 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 229 | 0.0044 | -50 | c.84+ others(67): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595736 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 246 | 0.0041 | -50 | c.409 others(69): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
SYNRG_chr17_37509807_37614418 | 37565961 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0275 | 1 | 346 | 0.0029 | -50 | c.148 others(69): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
SYT3_chr19_50616977_50644881 | 50619898 | ATTTTATT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 386 | 0.0026 | -50 | c.*25 others(61): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 2078 | chr19 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158704859 | GGGCAGGG others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02559.hp1 others(9): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0007 | a0001c0001t0001a0001c0001t0004a0004c0003t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0042 others(9): Show |
12 | 290 | 0.0414 | -50 | c.395 others(67): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158704910 | GGGCAGGG others(43): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0269 | 1 | 290 | 0.0034 | -50 | c.395 others(67): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAAR6_chr6_132565322_132576359 | 132572759 | TCCGAATA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 472 | 0.0021 | -50 | c.*14 others(61): Show |
TAAR6 | ENSG00000146383.7 | transcript | ENST00000275198.1 | protein_coding | 1401 | chr6 | TogoVar | |||||||
TACR1_chr2_75041463_75204520 | 75154438 | ACACACAC others(43): Show |
A | intron_variant | MODIFIER | HG02083.hp2 HG03239.hp2 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001 | a0001c0001t0019g0161 a0001c0002t0001g0197 a0001c0002t0001g0265 |
3 | 280 | 0.0107 | -50 | c.390 others(69): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
TACR2_chr10_69398903_69421918 | 69409865 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(43): Show |
a0001a0005a0007 | a0001c0001a0001c0016a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0113 others(15): Show |
46 | 252 | 0.1825 | -50 | c.588 others(65): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
TAF1A_chr1_222553312_222594933 | 222593733 | TTTGGGAG others(43): Show |
T | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 382 | 0.0026 | -50 | c.-40 others(61): Show |
TAF1A | ENSG00000143498.18 | transcript | ENST00000352967.9 | protein_coding | 3801 | chr1 | TogoVar | |||||||
TAPBPL_chr12_6447042_6467316 | 6465364 | ATATATAT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 HG03139.hp1 NA19072.hp1 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0002 | a0002c0003t0001g0002 a0002c0007t0002g0030 |
3 | 458 | 0.0066 | -50 | c.*32 others(61): Show |
TAPBPL | ENSG00000139192.12 | transcript | ENST00000266556.8 | protein_coding | 3049 | chr12 | TogoVar | |||||||
TARBP2_chr12_53496283_53511431 | 53498908 | CTGTGTGT others(43): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
101 | 102 | 0.9902 | -50 | c.-25 others(61): Show |
TARBP2 | ENSG00000139546.12 | transcript | ENST00000266987.7 | protein_coding | 2374 | chr12 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17704517 | ACCTCCCG others(43): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(20): Show |
23 | 97 | 0.2371 | -50 | c.-10 others(71): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9703210 | GGGGAAGG others(43): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01070.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0031 others(36): Show |
39 | 99 | 0.3939 | -50 | c.111 others(69): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TCF12_chr15_56913644_57294853 | 57007818 | CTTTTTCT others(43): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0043 a0001c0001t0015g0044 |
2 | 308 | 0.0065 | -50 | c.149 others(69): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
TCF25_chr16_89868592_89916379 | 89914635 | TTGTGTGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 280 | 0.0036 | -50 | c.*33 others(61): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3257 | chr16 | TogoVar | |||||||
TCF7L2_chr10_112945247_113172678 | 113117384 | TCTCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00738.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0002g0095 others(11): Show |
14 | 198 | 0.0707 | -50 | c.553 others(69): Show |
TCF7L2 | ENSG00000148737.18 | transcript | ENST00000355995.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TEC_chr4_48130783_48274838 | 48185796 | CCCCTCTC others(43): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0312 | 1 | 344 | 0.0029 | -50 | c.139 others(67): Show |
TEC | ENSG00000135605.13 | transcript | ENST00000381501.8 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
TEFM_chr17_30893986_30911238 | 30903350 | CCGAGTAG others(43): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 362 | 0.0028 | -50 | c.495 others(65): Show |
TEFM | ENSG00000172171.11 | transcript | ENST00000581216.6 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
TENM2_chr5_166974029_168269157 | 167860007 | GGGGGGGG others(43): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0022 | a0001c0022t0021 | a0001c0022t0021g0024 | 1 | 54 | 0.0185 | -50 | c.503 others(69): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 167872498 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0012 | 1 | 52 | 0.0192 | -50 | c.503 others(67): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 168185922 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0028a0001c0003t0001others(6): Show | a0001c0001t0001g0045 a0001c0002t0028g0036 a0001c0003t0001g0040 others(7): Show |
10 | 54 | 0.1852 | -50 | c.257 others(69): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TENM4_chr11_78647829_79446030 | 79164243 | ATAGTATA others(43): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 |
a0001 | a0001c0007a0001c0028 | a0001c0007t0018a0001c0028t0060 | a0001c0007t0018g0091 a0001c0028t0060g0087 |
2 | 35 | 0.0571 | -50 | c.-16 others(71): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 3/33 | chr11 | TogoVar | |||||||
TET2_chr4_105141876_105284803 | 105272679 | AAGCTCAG others(43): Show |
A | frameshift_variant | HIGH | HG03710.hp1 | a0019 | a0019c0020 | a0019c0020t0069 | a0019c0020t0069g0162 | 1 | 346 | 0.0029 | -50 | c.429 others(59): Show |
p.Glu others(6): Show |
TET2 | ENSG00000168769.14 | transcript | ENST00000380013.9 | protein_coding | 10/11 | 4595/9589 | 4299/6009 | 1433/2002 | chr4 | TogoVar | |||
TET2_chr4_105141876_105284803 | 105284046 | ATATATAT others(43): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0061 | a0001c0001t0006g0212 a0001c0001t0006g0214 a0001c0001t0006g0318 others(1): Show |
4 | 346 | 0.0116 | -50 | c.*75 others(61): Show |
TET2 | ENSG00000168769.14 | transcript | ENST00000380013.9 | protein_coding | 4244 | chr4 | TogoVar | |||||||
TEX11_chrX_70523940_70913711 | 70679782 | GGGGGTCA others(43): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0063 |
2 | 227 | 0.0088 | -50 | c.115 others(67): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 14/29 | chrX | TogoVar | |||||||
TEX11_chrX_70523940_70913711 | 70897649 | AAGGAAGG others(43): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 227 | 0.0044 | -50 | c.37+ others(67): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 2/29 | chrX | TogoVar | |||||||
TEX19_chr17_82354247_82368775 | 82359397 | TTTCCCTC others(43): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0042 |
3 | 378 | 0.0079 | -50 | c.-27 others(67): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TEX19_chr17_82354247_82368775 | 82361325 | CTTAGGTT others(43): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0036 | 1 | 378 | 0.0026 | -50 | c.-27 others(67): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TFAP2E_chr1_35568314_35600328 | 35576986 | CCCCAGCG others(43): Show |
C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 368 | 0.0027 | -50 | c.562 others(67): Show |
TFAP2E | ENSG00000116819.9 | transcript | ENST00000373235.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TFB1M_chr6_155251134_155319484 | 155305146 | ATATAAAT others(43): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0265 | 1 | 346 | 0.0029 | -50 | c.285 others(67): Show |
TFB1M | ENSG00000029639.11 | transcript | ENST00000367166.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
TFB1M_chr6_155251134_155319484 | 155305463 | ATATAAAT others(43): Show |
A | intron_variant | MODIFIER | NA18967.hp1 NA18969.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0273 a0001c0001t0002g0275 others(1): Show |
7 | 319 | 0.0219 | -50 | c.285 others(67): Show |
TFB1M | ENSG00000029639.11 | transcript | ENST00000367166.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
TFF2_chr21_42341357_42355994 | 42349651 | CAGACTAA others(43): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 452 | 0.0022 | -50 | c.229 others(65): Show |
TFF2 | ENSG00000160181.9 | transcript | ENST00000291526.5 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
TF_chr3_133741393_133801641 | 133785279 | GCCCCGTC others(43): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02818.hp2 HG03579.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0052a0001c0009t0053 | a0001c0009t0052g0013 a0001c0009t0053g0013 |
4 | 400 | 0.0100 | -50 | c.*66 others(61): Show |
TF | ENSG00000091513.16 | transcript | ENST00000402696.9 | protein_coding | 17/17 | 6663 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
THADA_chr2_43225851_43601038 | 43297502 | CGGTCAGC others(43): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0017 | a0017c0039 | a0017c0039t0001 | a0017c0039t0001g0124 | 1 | 204 | 0.0049 | -50 | c.443 others(69): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 31/37 | chr2 | TogoVar | |||||||
THEG_chr19_356747_381026 | 365652 | GCTCTTAC others(43): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02040.hp1 HG02055.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0181 a0001c0001t0001g0317 a0001c0001t0002g0092 others(20): Show |
25 | 335 | 0.0746 | -50 | c.913 others(67): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376906 | CCCCACCC others(43): Show |
C | upstream_gene_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0069 | 1 | 358 | 0.0028 | -50 | c.-98 others(59): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 881 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376926 | TCTGTGCC others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0283 |
2 | 343 | 0.0058 | -50 | c.-10 others(60): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 901 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377055 | TCTGTGCC others(43): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0059 | 1 | 343 | 0.0029 | -50 | c.-11 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1030 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377372 | CCCCACCC others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0011 | a0011c0021 | a0011c0021t0002 | a0011c0021t0002g0058 | 1 | 367 | 0.0027 | -50 | c.-14 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1347 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377387 | CCCCCTCT others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0273 | 1 | 365 | 0.0027 | -50 | c.-14 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1362 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377398 | CCCCACCC others(43): Show |
C | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 367 | 0.0027 | -50 | c.-14 others(61): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1373 | chr19 | TogoVar | |||||||
THNSL2_chr2_88165346_88191627 | 88178964 | ACCCCTGG others(43): Show |
A | frameshift_variant others(3): Show |
HIGH | NA20752.hp2 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0047 | 1 | 51 | 0.0196 | -50 | c.754 others(59): Show |
p.Pro others(5): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/9 | 877/2082 | 754/1455 | 252/484 | chr2 | TogoVar | |||
THOC5_chr22_29500879_29558757 | 29509608 | TGAGAACA others(43): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0173 | 1 | 381 | 0.0026 | -50 | c.198 others(69): Show |
THOC5 | ENSG00000100296.14 | transcript | ENST00000490103.6 | protein_coding | 19/19 | chr22 | TogoVar | |||||||
THOC5_chr22_29500879_29558757 | 29509670 | GAGGGAGA others(43): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 382 | 0.0026 | -50 | c.198 others(69): Show |
THOC5 | ENSG00000100296.14 | transcript | ENST00000490103.6 | protein_coding | 19/19 | chr22 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11786100 | AATTGCTC others(43): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0002a0001c0001t0041a0001c0010t0012others(1): Show | a0001c0001t0002g0143 a0001c0001t0041g0140 a0001c0010t0012g0141 others(1): Show |
4 | 178 | 0.0225 | -50 | c.190 others(69): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
THUMPD2_chr2_39731061_39784258 | 39773551 | ATTTAAAA others(43): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02896.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0003a0005c0006t0003 | a0001c0001t0003g0007 a0001c0001t0003g0162 a0001c0001t0003g0163 others(7): Show |
13 | 123 | 0.1057 | -50 | c.127 others(67): Show |
THUMPD2 | ENSG00000138050.15 | transcript | ENST00000505747.6 | protein_coding | 1/9 | chr2 | TogoVar |