| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMYD3_chr1_245744347_246512279 | 246072291 | G | GTGTAGTT others(163): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0002c0003t0001a0002c0007t0001 | a0001c0001t0001g0019a0002c0003t0001g0137a0002c0007t0001g0120 | 3 | 150 | 0.0200 | 170 | c.532 others(191): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SORBS2_chr4_185580523_185817194 | 185731449 | C | CCTCCCTC others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0010 | a0001c0001t0019a0001c0001t0057a0001c0009t0007others(1): Show | a0001c0001t0019g0302a0001c0001t0057g0035a0001c0009t0007g0291others(1): Show | 4 | 312 | 0.0128 | 170 | c.-41 others(187): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(163): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 418 | 0.0048 | 170 | c.*54 others(181): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(163): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 260 | 0.0039 | 170 | c.138 others(189): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822372 | T | TCACACAC others(163): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0016 | a0006c0016t0011 | a0006c0016t0011g0073 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCACACAC others(163): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCACACAC others(163): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0177 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCACAC others(163): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0063 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCACAC others(163): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02155.hp1 HG03490.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0013t0005others(1): Show | a0001c0001t0001g0064a0002c0003t0001g0263a0002c0013t0005g0142others(1): Show | 4 | 268 | 0.0149 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCAC others(163): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0029 | a0006c0029t0001 | a0006c0029t0001g0157 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(163): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0006 | a0006c0016 | a0006c0016t0011 | a0006c0016t0011g0053 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(163): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0023 | a0002c0023t0010 | a0002c0023t0010g0030 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(163): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0016 | a0006c0016t0021 | a0006c0016t0021g0056 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(163): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0026 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(163): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0080 | a0002c0080t0002 | a0002c0080t0002g0169 | 1 | 268 | 0.0037 | 170 | c.148 others(185): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
| STOX2_chr4_183900307_184028526 | 183932315 | A | ATGTATAT others(163): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0235 | 1 | 318 | 0.0031 | 170 | c.166 others(189): Show |
STOX2 | ENSG00000173320.12 | transcript | ENST00000308497.9 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| STX2_chr12_130784600_130844250 | 130844241 | A | ATAATATA others(163): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0061 | 1 | 380 | 0.0026 | 170 | c.-51 others(181): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4992 | chr12 | TogoVar | ||||||
| SUMF1_chr3_4356146_4472269 | 4456847 | T | TGTGTGTG others(163): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0014 | 1 | 392 | 0.0026 | 170 | c.271 others(187): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
| SVEP1_chr9_110360248_110584741 | 110390315 | G | GTATATAT others(163): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0053 | a0053c0161 | a0053c0161t0011 | a0053c0161t0011g0002 | 1 | 362 | 0.0028 | 170 | c.982 others(187): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
| SYN1_chrX_47566901_47624857 | 47584225 | G | GATTGAGG others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0043a0001c0002t0001g0037a0001c0002t0001g0040 | 3 | 282 | 0.0106 | 170 | c.775 others(187): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 5/12 | chrX | TogoVar | ||||||
| SYNE3_chr14_95402266_95521650 | 95423637 | G | GATGAGGA others(163): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0003 | a0004c0003t0019 | a0004c0003t0019g0300 | 1 | 384 | 0.0026 | 170 | c.272 others(189): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
| SYNPR_chr3_63273308_63621924 | 63313900 | C | CATATATA others(163): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 246 | 0.0041 | 170 | c.84+ others(187): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SYTL3_chr6_158645054_158769871 | 158701295 | G | GATGAAGG others(163): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0149 | 1 | 292 | 0.0034 | 170 | c.395 others(187): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TBATA_chr10_70766238_70790377 | 70767650 | G | GAAAGAAG others(163): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0062 | 1 | 410 | 0.0024 | 170 | c.*37 others(181): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3587 | chr10 | TogoVar | ||||||
| TBCD_chr17_82747065_82950914 | 82886635 | T | TCTCCCCT others(163): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG02004.hp2 others(2): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0043a0001c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0043g0081a0001c0002t0001g0269a0001c0002t0001g0286others(2): Show | 5 | 318 | 0.0157 | 170 | c.153 others(189): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628013 | A | ACGGGGTG others(163): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0001 | a0002c0001t0057 | a0002c0001t0057g0158 | 1 | 352 | 0.0028 | 170 | c.299 others(185): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628084 | C | CAGGGGTG others(163): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 352 | 0.0028 | 170 | c.299 others(185): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628118 | C | CGGGGGTG others(163): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0285 | 1 | 352 | 0.0028 | 170 | c.299 others(185): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628120 | G | GGGGGTGA others(163): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0085 | a0001c0002t0085g0304 | 1 | 352 | 0.0028 | 170 | c.299 others(185): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628288 | C | CGGGGTGA others(163): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0030 | 1 | 352 | 0.0028 | 170 | c.299 others(185): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628572 | G | GGCGGGAA others(163): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0006 | a0003c0006t0017 | a0003c0006t0017g0298 | 1 | 352 | 0.0028 | 170 | c.299 others(187): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628871 | C | CGGGGTGA others(163): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0044 | 1 | 352 | 0.0028 | 170 | c.299 others(187): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(163): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 352 | 0.0028 | 170 | c.299 others(187): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF7L1_chr2_85128392_85315387 | 85308414 | C | CCCCTCCC others(163): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03471.hp1 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0002a0009c0014t0002 | a0001c0001t0002g0202a0009c0014t0002g0164 | 2 | 236 | 0.0085 | 170 | c.133 others(187): Show |
TCF7L1 | ENSG00000152284.5 | transcript | ENST00000282111.4 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TENM2_chr5_166974029_168269157 | 167515620 | C | CATATATA others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0031a0005c0034others(1): Show | a0001c0001t0029a0001c0031t0001a0005c0034t0025others(1): Show | a0001c0001t0029g0006a0001c0031t0001g0050a0005c0034t0025g0002others(1): Show | 4 | 54 | 0.0741 | 170 | c.502 others(191): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TENM4_chr11_78647829_79446030 | 79139749 | A | AAAATATA others(163): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0055 | a0001c0004t0055g0077 | 1 | 94 | 0.0106 | 170 | c.-66 others(187): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79139802 | T | TATAATAT others(163): Show |
intron_variant | MODIFIER | HG02818.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0015a0001c0023t0061 | a0001c0001t0015g0076a0001c0023t0061g0080 | 2 | 94 | 0.0213 | 170 | c.-66 others(187): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1272715 | A | ACACATCA others(163): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 392 | 0.0026 | 170 | c.228 others(187): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273120 | A | ACATCAGA others(163): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0291 | 1 | 392 | 0.0026 | 170 | c.228 others(187): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273366 | C | CCACACAT others(163): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 392 | 0.0026 | 170 | c.228 others(189): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1290786 | T | TGACAGAG others(163): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0212 | 1 | 392 | 0.0026 | 170 | c.157 others(189): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
| TEX19_chr17_82354247_82368775 | 82361550 | G | GTTCCCTC others(163): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 380 | 0.0026 | 170 | c.-27 others(187): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TIMP1_chrX_47577436_47591789 | 47584225 | G | GATTGAGG others(163): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 327 | 0.0061 | 170 | c.122 others(185): Show |
TIMP1 | ENSG00000102265.12 | transcript | ENST00000218388.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113533002 | T | TACTGAAG others(163): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0329a0001c0001t0010g0330 | 2 | 368 | 0.0054 | 170 | c.134 others(189): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 8/12 | chr13 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747613 | G | GCACTGGG others(163): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0143 | 1 | 314 | 0.0032 | 170 | c.189 others(185): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM184A_chr7_1537235_1561205 | 1549312 | T | TTGGACCT others(163): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0009 | a0009c0014 | a0009c0014t0025 | a0009c0014t0025g0052 | 1 | 420 | 0.0024 | 170 | c.644 others(185): Show |
TMEM184A | ENSG00000164855.16 | transcript | ENST00000297477.10 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157310656 | G | GGCCTCAT others(163): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0176 | 1 | 344 | 0.0029 | 170 | c.327 others(187): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311304 | G | GTGCCCCA others(163): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0173 | 1 | 344 | 0.0029 | 170 | c.327 others(187): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311910 | A | ATCATAGT others(163): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02293.hp1 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0055a0001c0004t0009g0056 | 2 | 344 | 0.0058 | 170 | c.327 others(187): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157312210 | A | AGCCTCAT others(163): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 344 | 0.0058 | 170 | c.327 others(187): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |