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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2288): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0002 | a0001c0004t0001g0112 a0001c0008t0002g0171 |
2 | 65 | 0.0308 | 2295 | c.107 others(2314): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2288): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02109.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0006t0007others(3): Show | a0001c0001t0005g0037 a0001c0001t0006g0218 a0001c0006t0007g0302 others(5): Show |
8 | 89 | 0.0899 | 2295 | c.439 others(2312): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2288): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0026 | 1 | 82 | 0.0122 | 2295 | c.439 others(2312): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501492 | C | CATCCCGC others(2288): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0032 | a0032c0037 | a0032c0037t0001 | a0032c0037t0001g0068 | 1 | 271 | 0.0037 | 2295 | c.268 others(2314): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954440 | A | GGGGAGGG others(2288): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 96 | 0.0104 | 2295 | c.-28 others(2314): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954458 | G | GTGGGGAG others(2288): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0014 | 1 | 124 | 0.0081 | 2295 | c.-28 others(2314): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758432 | T | TCACCTGC others(2289): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0026 | a0026c0072 | a0026c0072t0001 | a0026c0072t0001g0231 | 1 | 173 | 0.0058 | 2296 | c.655 others(2315): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2289): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0097 | 1 | 88 | 0.0114 | 2296 | c.*92 others(2307): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2289): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 2 | 0.5000 | 2296 | c.44- others(2309): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2289): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 2 | 0.5000 | 2296 | c.44- others(2309): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927879 | G | GTGGTGGT others(2289): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0248 | 1 | 284 | 0.0035 | 2296 | c.190 others(2315): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2289): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 295 | 0.0034 | 2296 | c.522 others(2311): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2289): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0075 | 1 | 8 | 0.1250 | 2296 | c.723 others(2313): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2289): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0102 | a0102c0045 | a0102c0045t0001 | a0102c0045t0001g0022 | 1 | 31 | 0.0323 | 2296 | c.956 others(2313): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(2289): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0215 | 1 | 242 | 0.0041 | 2296 | c.129 others(2315): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2289): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 43 | 0.0233 | 2296 | c.-12 others(2317): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2289): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03471.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0011g0264 |
3 | 21 | 0.1429 | 2296 | c.126 others(2315): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2289): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG03041.hp2 |
a0004a0009 | a0004c0007a0009c0017 | a0004c0007t0022a0009c0017t0038 | a0004c0007t0022g0067 a0004c0007t0022g0185 a0009c0017t0038g0100 |
3 | 21 | 0.1429 | 2296 | c.126 others(2315): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(2289): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0102 | 1 | 19 | 0.0526 | 2296 | c.126 others(2315): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2289): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 89 | 0.0112 | 2296 | c.-48 others(2307): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2290): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0098 | 1 | 278 | 0.0036 | 2297 | c.955 others(2314): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2290): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0158 | 1 | 88 | 0.0114 | 2297 | c.*92 others(2308): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0078 | 1 | 3 | 0.3333 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0143 | 1 | 3 | 0.3333 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0142 | 1 | 3 | 0.3333 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2290): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0027others(10): Show | a0001c0001t0002g0069 a0001c0001t0002g0122 a0001c0001t0002g0139 others(17): Show |
20 | 22 | 0.9091 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2290): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 2 | 0.5000 | 2297 | c.44- others(2310): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0307 | 1 | 82 | 0.0122 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00642.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0046others(1): Show | a0001c0001t0001g0166 a0001c0001t0009g0315 a0001c0001t0009g0318 others(4): Show |
7 | 88 | 0.0795 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19240.hp2 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0028 | a0001c0001t0001g0148 a0001c0001t0009g0317 a0001c0001t0009g0320 others(1): Show |
4 | 85 | 0.0471 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2290): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 82 | 0.0122 | 2297 | c.439 others(2314): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2290): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 417 | 0.0024 | 2297 | c.*45 others(2308): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2290): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 62 | 0.0323 | 2297 | c.-11 others(2308): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2290): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 61 | 0.0164 | 2297 | c.-11 others(2308): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2290): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0005 | a0005c0019 | a0005c0019t0024 | a0005c0019t0024g0037 | 1 | 32 | 0.0313 | 2297 | c.218 others(2312): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2290): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 34 | 0.0294 | 2297 | c.299 others(2312): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2290): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 2 | 9 | 0.2222 | 2297 | c.-20 others(2308): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2290): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2297 | c.*44 others(2308): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2290): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0083 a0001c0001t0045g0056 |
2 | 90 | 0.0222 | 2297 | c.-48 others(2308): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2291): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0049 | a0049c0104 | a0049c0104t0018 | a0049c0104t0018g0198 | 1 | 2 | 0.5000 | 2298 | c.801 others(2315): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028986 | A | ACTCGTAA others(2291): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 109 | 0.0092 | 2298 | c.225 others(2317): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 88 | 0.0114 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG02523.hp2 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 a0001c0001t0003g0182 a0001c0001t0003g0192 others(2): Show |
5 | 92 | 0.0543 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2292): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 88 | 0.0114 | 2299 | c.*92 others(2310): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0022others(2): Show | a0001c0004t0012a0001c0006t0007a0001c0022t0005others(3): Show | a0001c0004t0012g0232 a0001c0006t0007g0220 a0001c0022t0005g0021 others(5): Show |
8 | 89 | 0.0899 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0012 | a0001c0001t0006g0208 a0001c0004t0012g0209 |
2 | 83 | 0.0241 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0306 a0001c0001t0018g0308 |
2 | 83 | 0.0241 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2292): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0019 | a0001c0019t0018 | a0001c0019t0018g0309 | 1 | 82 | 0.0122 | 2299 | c.439 others(2316): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2292): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02523.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 |
3 | 91 | 0.0330 | 2299 | c.-48 others(2310): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67079173 | T | TGTGTGTG others(2292): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0306 | 1 | 362 | 0.0028 | 2299 | c.127 others(2318): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |