| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 165 | 0.0061 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 165 | 0.0061 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 165 | 0.0061 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 165 | 0.0061 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | 165 | 0.0121 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZC3H12B_chrX_65029826_65512887 | 65457303 | A | AGGGAGGT others(340): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 165 | 0.0061 | 347 | c.-15 others(368): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| ZNF202_chr11_123718914_123746660 | 123734759 | T | TGCTTAGT others(340): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 428 | 0.0023 | 347 | c.-97 others(364): Show |
ZNF202 | ENSG00000166261.11 | transcript | ENST00000530393.6 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
| ZNF512_chr2_27578042_27628217 | 27613162 | A | ACTACAGA others(340): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 332 | 0.0030 | 347 | c.113 others(366): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ZNF778_chr16_89212703_89242141 | 89224967 | T | TAAGATGC others(340): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp2 NA18943.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0059a0001c0002t0001others(2): Show | a0001c0001t0004g0104a0001c0001t0059g0149a0001c0002t0001g0092others(2): Show | 5 | 434 | 0.0115 | 347 | c.328 others(362): Show |
ZNF778 | ENSG00000170100.14 | transcript | ENST00000433976.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(341): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 249 | 0.0040 | 348 | c.49- others(363): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1159250 | G | GGGAGAAG others(341): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0082a0001c0001t0002g0081a0001c0001t0004g0268 | 3 | 337 | 0.0089 | 348 | c.61+ others(365): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1159494 | T | TATGCGGT others(341): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0017a0001c0006t0047 | a0001c0003t0017g0120a0001c0006t0047g0227 | 2 | 337 | 0.0059 | 348 | c.61+ others(365): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288627 | C | CCGTGTCT others(341): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 295 | 0.0034 | 348 | c.*49 others(359): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3763 | chr1 | TogoVar | ||||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(341): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0115 | 1 | 354 | 0.0028 | 348 | c.523 others(367): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(341): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0235 | 1 | 354 | 0.0028 | 348 | c.523 others(367): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADAMTS16_chr5_5135330_5325304 | 5305095 | A | ACACACAA others(341): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0029 | a0029c0075 | a0029c0075t0001 | a0029c0075t0001g0301 | 1 | 332 | 0.0030 | 348 | c.318 others(367): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(341): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18962.hp2 |
a0004 | a0004c0031a0004c0069 | a0004c0031t0003a0004c0069t0001 | a0004c0031t0003g0008a0004c0069t0001g0120 | 2 | 228 | 0.0088 | 348 | c.259 others(369): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(341): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0055 | a0002c0055t0014 | a0002c0055t0014g0002 | 1 | 228 | 0.0044 | 348 | c.259 others(369): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
| ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(341): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 352 | 0.0028 | 348 | c.*51 others(359): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
| ADGRB3_chr6_68630282_69394506 | 69100947 | A | AAGGAAGG others(341): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01192.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0049others(17): Show | 20 | 120 | 0.1667 | 348 | c.248 others(369): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADH4_chr4_99118658_99149297 | 99119351 | A | AGAGACTC others(341): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 338 | 0.0030 | 348 | c.*50 others(359): Show |
ADH4 | ENSG00000198099.10 | transcript | ENST00000265512.12 | protein_coding | 4306 | chr4 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15406286 | G | GTGTGTAT others(341): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0017 | 1 | 236 | 0.0042 | 348 | c.610 others(367): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
| AGPS_chr2_177387773_177548834 | 177453985 | C | CCCCCTCT others(341): Show |
intron_variant | MODIFIER | HG01256.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0194a0001c0001t0022g0135 | 2 | 258 | 0.0078 | 348 | c.871 others(365): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(341): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0163 | 1 | 268 | 0.0037 | 348 | c.-37 others(359): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(341): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0019a0001c0001t0005g0055 | 2 | 268 | 0.0075 | 348 | c.62+ others(361): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AIDA_chr1_222663013_222717491 | 222697341 | T | TAAAAAAG others(341): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 368 | 0.0027 | 348 | c.181 others(365): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(341): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 301 | 0.0033 | 348 | c.125 others(369): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGGGAGG others(341): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 301 | 0.0033 | 348 | c.125 others(369): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| ALDH18A1_chr10_95600941_95661711 | 95627213 | G | GAGAAAAT others(341): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0259 | 2 | 372 | 0.0054 | 348 | c.107 others(365): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 9/17 | chr10 | TogoVar | ||||||
| ALDH1A1_chr9_72895671_72958053 | 72928053 | C | CTAAAGTA others(341): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 306 | 0.0033 | 348 | c.442 others(363): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 4/12 | chr9 | TogoVar | ||||||
| ALDH1A1_chr9_72895671_72958053 | 72928053 | C | CTAAAGTA others(341): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 306 | 0.0033 | 348 | c.442 others(363): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 4/12 | chr9 | TogoVar | ||||||
| ALDH1A1_chr9_72895671_72958053 | 72928053 | C | CTAAAGTA others(341): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 306 | 0.0033 | 348 | c.442 others(363): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 4/12 | chr9 | TogoVar | ||||||
| ANO3_chr11_26327130_26668289 | 26529327 | A | ATAATATA others(341): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 190 | 0.0053 | 348 | c.738 others(365): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(341): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 | 1 | 334 | 0.0030 | 348 | c.149 others(363): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| AP3S1_chr5_115836935_115919081 | 115878921 | T | TAAGTTGT others(341): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0051 | 2 | 378 | 0.0053 | 348 | c.273 others(365): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| API5_chr11_43306996_43349529 | 43310873 | A | AATATATA others(341): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 348 | c.-12 others(359): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1122 | chr11 | TogoVar | ||||||
| APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(341): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0062a0001c0001t0063 | a0001c0001t0062g0016a0001c0001t0063g0051 | 2 | 256 | 0.0078 | 348 | c.*39 others(357): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | |||||
| APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(341): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0024 | 1 | 256 | 0.0039 | 348 | c.*39 others(357): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(341): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0077 | a0002c0077t0001 | a0002c0077t0001g0032 | 1 | 363 | 0.0028 | 348 | c.-48 others(365): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(341): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0018 | a0001c0018t0024 | a0001c0018t0024g0086 | 1 | 363 | 0.0028 | 348 | c.-48 others(365): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARHGEF28_chr5_73621196_73946990 | 73850085 | T | TGTTATTT others(341): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0102 | 1 | 188 | 0.0053 | 348 | c.174 others(367): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(341): Show |
disruptive_inframe_insertion | MODERATE | HG02027.hp1 | a0049 | a0049c0039 | a0049c0039t0002 | a0049c0039t0002g0037 | 1 | 326 | 0.0031 | 348 | c.546 others(357): Show |
p.Gly others(363): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMS2_chr10_122449653_122462352 | 122451460 | A | ATTTCAGT others(341): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 424 | 0.0024 | 348 | c.-32 others(359): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 3192 | chr10 | TogoVar | ||||||
| ASAH1_chr8_18050992_18089107 | 18085612 | T | TAAATAAG others(341): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG03453.hp2 NA19054.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0007a0003c0003t0009 | a0001c0001t0004g0080a0001c0001t0007g0073a0003c0003t0009g0062 | 3 | 420 | 0.0071 | 348 | c.-15 others(359): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1506 | chr8 | TogoVar | ||||||
| ASCC3_chr6_100503194_100886329 | 100757461 | T | TAAGACTT others(341): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 |
a0001a0008 | a0001c0002a0008c0010 | a0001c0002t0011a0008c0010t0007 | a0001c0002t0011g0003a0008c0010t0007g0002 | 2 | 314 | 0.0064 | 348 | c.173 others(367): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(341): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0152 | 1 | 356 | 0.0028 | 348 | c.924 others(365): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(341): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0156 | 1 | 356 | 0.0028 | 348 | c.924 others(365): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(341): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0134 | 1 | 356 | 0.0028 | 348 | c.924 others(365): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758169 | A | ACTCATTC others(341): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 300 | 0.0033 | 348 | c.655 others(367): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(341): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0194 | 1 | 254 | 0.0039 | 348 | c.39+ others(365): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |