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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1655): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0034 others(14): Show |
17 | 144 | 0.1181 | 1662 | c.-73 others(1681): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1655): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0020 a0001c0001t0001g0079 a0001c0001t0001g0106 others(2): Show |
5 | 144 | 0.0347 | 1662 | c.-73 others(1681): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(1655): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0114 | 1 | 144 | 0.0069 | 1662 | c.-73 others(1681): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400963 | C | CACCACCA others(1655): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0063 | a0001c0063t0002 | a0001c0063t0002g0163 | 1 | 256 | 0.0039 | 1662 | c.323 others(1681): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 467577 | C | CCCAGGCT others(1655): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02723.hp2 |
a0002a0037a0041 | a0002c0111a0037c0038a0041c0150 | a0002c0111t0010a0037c0038t0001a0041c0150t0010 | a0002c0111t0010g0248 a0037c0038t0001g0026 a0041c0150t0010g0071 |
3 | 256 | 0.0117 | 1662 | c.*33 others(1673): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2323 | chr9 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATCC others(1655): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0181 |
3 | 250 | 0.0120 | 1662 | c.259 others(1681): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(1655): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 250 | 0.0040 | 1662 | c.259 others(1681): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1655): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0151 | 1 | 168 | 0.0060 | 1662 | c.338 others(1681): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LYZL6_chr17_35929518_35948713 | 35945143 | T | TAAAGTAT others(1655): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 2 | 415 | 0.0048 | 1662 | c.-17 others(1673): Show |
LYZL6 | ENSG00000275722.5 | transcript | ENST00000615905.5 | protein_coding | 1431 | chr17 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(1655): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0014 | 1 | 188 | 0.0053 | 1662 | c.147 others(1679): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RBBP8_chr18_22928328_23031486 | 23022651 | T | TAAAATAA others(1655): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 330 | 0.0030 | 1662 | c.259 others(1679): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1655): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 334 | 0.0030 | 1662 | c.45- others(1677): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(1656): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0012 | 1 | 268 | 0.0037 | 1663 | c.-37 others(1674): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(1656): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 246 | 0.0041 | 1663 | c.-16 others(1674): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(1656): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 276 | 0.0036 | 1663 | c.*52 others(1674): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1656): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 168 | 0.0060 | 1663 | c.338 others(1682): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1656): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 168 | 0.0060 | 1663 | c.338 others(1682): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399439 | C | CCACCACC others(1656): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0025 | 1 | 314 | 0.0032 | 1663 | c.-25 others(1680): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(1656): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 360 | 0.0028 | 1663 | c.*35 others(1674): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1656): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0154 | 1 | 334 | 0.0030 | 1663 | c.45- others(1678): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1656): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0076 | 1 | 134 | 0.0075 | 1663 | c.-28 others(1682): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740284 | G | GACAGTGA others(1656): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 445 | 0.0023 | 1663 | c.-26 others(1674): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2586 | chr17 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1656): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1663 | c.*30 others(1674): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(1656): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0016 | 1 | 344 | 0.0029 | 1663 | c.218 others(1680): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1657): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0050 | 1 | 58 | 0.0172 | 1664 | c.510 others(1683): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065114 | A | ATAGTATT others(1657): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0220 | 1 | 334 | 0.0030 | 1664 | c.-25 others(1675): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2249 | chr11 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1657): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0079 | 1 | 230 | 0.0044 | 1664 | c.724 others(1683): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322216 | G | GTATGGAA others(1657): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 323 | 0.0031 | 1664 | c.-28 others(1675): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2753 | chr21 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1657): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0286 | 1 | 334 | 0.0030 | 1664 | c.45- others(1679): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1657): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0270 | 1 | 334 | 0.0030 | 1664 | c.45- others(1679): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1657): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0123 | 1 | 134 | 0.0075 | 1664 | c.-28 others(1683): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1657): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 322 | 0.0031 | 1664 | c.-93 others(1681): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(1657): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 344 | 0.0029 | 1664 | c.327 others(1681): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311760 | A | ACTCACCT others(1657): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 344 | 0.0029 | 1664 | c.327 others(1681): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACACCC others(1657): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 338 | 0.0030 | 1664 | c.*35 others(1683): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917328 | T | TGGGGGTC others(1657): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036 | 1 | 344 | 0.0029 | 1664 | c.218 others(1679): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185711 | C | CATAGGGC others(1658): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 338 | 0.0030 | 1665 | c.300 others(1682): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 467577 | C | CCCAGGCT others(1658): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0038 | a0038c0167 | a0038c0167t0018 | a0038c0167t0018g0001 | 1 | 256 | 0.0039 | 1665 | c.*33 others(1676): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2323 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 467577 | C | CCCAGGCT others(1658): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0096 | a0002c0096t0001 | a0002c0096t0001g0010 | 1 | 256 | 0.0039 | 1665 | c.*33 others(1676): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 2323 | chr9 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1658): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 168 | 0.0060 | 1665 | c.338 others(1684): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(1658): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 308 | 0.0033 | 1665 | c.157 others(1682): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1658): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 395 | 0.0025 | 1665 | c.*69 others(1676): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1658): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 395 | 0.0025 | 1665 | c.*69 others(1676): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(1658): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 323 | 0.0031 | 1665 | c.-23 others(1676): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1658): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 402 | 0.0025 | 1665 | c.292 others(1684): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1658): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0092 | 1 | 158 | 0.0063 | 1665 | c.*11 others(1686): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1658): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0104 | 1 | 158 | 0.0063 | 1665 | c.*11 others(1686): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(1658): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0011 | a0011c0052 | a0011c0052t0001 | a0011c0052t0001g0063 | 1 | 186 | 0.0054 | 1665 | c.956 others(1682): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507402 | G | GAGGGGGG others(1658): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 260 | 0.0039 | 1665 | c.624 others(1682): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(1658): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 404 | 0.0025 | 1665 | c.125 others(1682): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |