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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2286): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 361 | 0.0028 | 2293 | c.-48 others(2304): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2286): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0105 | 2 | 361 | 0.0055 | 2293 | c.-48 others(2304): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063850 | A | AGGAAGGG others(2286): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 167 | 0.0060 | 2293 | c.*54 others(2304): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2305 | chr13 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741743 | G | GGCCTGAT others(2286): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0080 | 1 | 431 | 0.0023 | 2293 | c.*40 others(2304): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3159 | chr17 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294110 | A | ACAAGTTA others(2286): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 404 | 0.0025 | 2293 | c.340 others(2310): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2287): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0276 | 1 | 434 | 0.0023 | 2294 | c.16+ others(2309): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344420 | G | GGTGTGTG others(2287): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0001 | 2 | 268 | 0.0075 | 2294 | c.62+ others(2307): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(2287): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 432 | 0.0023 | 2294 | c.413 others(2311): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2287): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0014 | a0001c0014t0081 | a0001c0014t0081g0017 | 1 | 371 | 0.0027 | 2294 | c.*92 others(2305): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2287): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 NA18985.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0001g0161a0001c0001t0003g0133others(1): Show | 4 | 371 | 0.0108 | 2294 | c.*92 others(2305): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2287): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0172 | 1 | 371 | 0.0027 | 2294 | c.*92 others(2305): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2287): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 364 | 0.0028 | 2294 | c.445 others(2309): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(2287): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0201 | 1 | 230 | 0.0044 | 2294 | c.724 others(2313): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2287): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 390 | 0.0051 | 2294 | c.972 others(2307): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241752 | A | ACACCCTT others(2287): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 183 | 0.0055 | 2294 | c.107 others(2313): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2287): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 80 | 0.0125 | 2294 | c.125 others(2311): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377008 | C | CCCCCACC others(2287): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 370 | 0.0027 | 2294 | c.-10 others(2305): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 983 | chr19 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2287): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 361 | 0.0028 | 2294 | c.-48 others(2305): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2287): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0099 | 2 | 361 | 0.0055 | 2294 | c.-48 others(2305): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2287): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0049a0001c0001t0006g0107a0001c0001t0006g0110others(2): Show | 5 | 320 | 0.0156 | 2294 | c.356 others(2309): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACATGACC others(2287): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0053 | 1 | 302 | 0.0033 | 2294 | c.*40 others(2311): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2288): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 371 | 0.0027 | 2295 | c.*92 others(2306): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2288): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0346 | 1 | 371 | 0.0027 | 2295 | c.*92 others(2306): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2288): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 2295 | c.18+ others(2312): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716505 | G | GTTGGTGT others(2288): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 170 | 0.0059 | 2295 | c.86- others(2308): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2288): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0002 | a0001c0004t0001g0112a0001c0008t0002g0171 | 2 | 183 | 0.0109 | 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 | a0001c0001t0005a0001c0001t0006a0001c0006t0009others(3): Show | a0001c0001t0005g0241a0001c0001t0006g0036a0001c0006t0009g0305others(5): Show | 8 | 322 | 0.0248 | 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 | a0001c0001t0019 | a0001c0001t0019g0025 | 1 | 322 | 0.0031 | 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 | a0030 | a0030c0037 | a0030c0037t0001 | a0030c0037t0001g0056 | 1 | 318 | 0.0031 | 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 | a0001c0001t0008g0055 | 1 | 126 | 0.0079 | 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 | a0001c0001t0019 | a0001c0001t0019g0023 | 1 | 126 | 0.0079 | 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 | a0027 | a0027c0072 | a0027c0072t0001 | a0027c0072t0001g0231 | 1 | 300 | 0.0033 | 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 | a0001c0001t0080g0112 | 1 | 371 | 0.0027 | 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 | 316 | 0.0032 | 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 | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 316 | 0.0032 | 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 | a0001c0001t0001g0240 | 1 | 316 | 0.0032 | 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 | 288 | 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 | a0002c0002t0002g0154 | 1 | 416 | 0.0024 | 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 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0075 | 1 | 186 | 0.0054 | 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 | a0054 | a0054c0045 | a0054c0045t0001 | a0054c0045t0001g0024 | 1 | 186 | 0.0054 | 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 | a0001c0001t0011g0219 | 1 | 290 | 0.0035 | 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 | 272 | 0.0037 | 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 | a0001c0001t0011g0256a0001c0001t0011g0257a0001c0001t0011g0258 | 3 | 295 | 0.0102 | 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 |
a0004a0005 | a0004c0007a0005c0017 | a0004c0007t0022a0005c0017t0037 | a0004c0007t0022g0067a0004c0007t0022g0186a0005c0017t0037g0100 | 3 | 295 | 0.0102 | 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 | 295 | 0.0034 | 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 | a0001c0001t0001g0124 | 1 | 361 | 0.0028 | 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 | a0001c0004t0003g0094 | 1 | 298 | 0.0034 | 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 | a0001c0001t0009g0147 | 1 | 371 | 0.0027 | 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 | 272 | 0.0037 | 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 | 272 | 0.0037 | 2297 | c.655 others(2316): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |