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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(765): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 272 | 0.0037 | 772 | c.*29 others(783): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(765): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 272 | 0.0037 | 772 | c.*29 others(783): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(765): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0130 | 1 | 250 | 0.0040 | 772 | c.82+ others(787): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(765): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0219 | 1 | 290 | 0.0035 | 772 | c.205 others(791): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(765): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0097 | 1 | 126 | 0.0079 | 772 | c.-28 others(791): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025395 | A | ACACACAC others(766): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0009 | 1 | 248 | 0.0040 | 773 | c.387 others(792): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACATCC others(766): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02976.hp1 HG03130.hp2 |
a0001a0019 | a0001c0001a0001c0055a0019c0079 | a0001c0001t0001a0001c0055t0020a0019c0079t0029 | a0001c0001t0001g0057 a0001c0055t0020g0056 a0019c0079t0029g0204 |
3 | 332 | 0.0090 | 773 | c.318 others(792): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058181 | C | CTAACACC others(766): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0081 | 1 | 228 | 0.0044 | 773 | c.213 others(792): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240872327 | G | GAGGAGGG others(766): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp2 others(12): Show |
a0003a0011 | a0003c0004a0011c0016 | a0003c0004t0006a0011c0016t0002 | a0003c0004t0006g0011 a0003c0004t0006g0035 a0003c0004t0006g0054 others(1): Show |
15 | 444 | 0.0338 | 773 | c.525 others(788): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240872423 | G | GAGGAGGA others(766): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0033 | 3 | 444 | 0.0068 | 773 | c.525 others(788): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344666 | G | GTGTGTGT others(766): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 268 | 0.0037 | 773 | c.62+ others(786): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(766): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0028 | 1 | 300 | 0.0033 | 773 | c.-70 others(782): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(766): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01975.hp2 |
a0025a0052 | a0025c0023a0052c0108 | a0025c0023t0001a0052c0108t0001 | a0025c0023t0001g0321 a0052c0108t0001g0292 |
2 | 346 | 0.0058 | 773 | c.963 others(790): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209402 | T | TTCCCTCT others(766): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 142 | 0.0070 | 773 | c.244 others(792): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(766): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01192.hp1 others(20): Show |
a0002a0009a0022 | a0002c0003a0002c0006a0009c0013others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(2): Show | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(19): Show |
23 | 252 | 0.0913 | 773 | c.-29 others(784): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(766): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0059 | 1 | 252 | 0.0040 | 773 | c.-29 others(784): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(766): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01496.hp2 HG02486.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0061 |
3 | 252 | 0.0119 | 773 | c.-29 others(784): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(766): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01515.hp1 HG01517.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0041 a0002c0006t0002g0048 a0002c0006t0002g0060 |
3 | 252 | 0.0119 | 773 | c.-29 others(784): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCCAC others(766): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0026 | 1 | 252 | 0.0040 | 773 | c.-29 others(784): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(766): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0010 | a0001c0010t0067 | a0001c0010t0067g0194 | 1 | 270 | 0.0037 | 773 | c.162 others(794): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AGGGGGAA others(766): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 344 | 0.0029 | 773 | c.85- others(790): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AGGGGGAA others(766): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 344 | 0.0029 | 773 | c.85- others(790): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110481937 | C | CTCTGTCC others(766): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0003 | a0001c0022a0001c0114a0002c0013others(3): Show | a0001c0022t0014a0001c0114t0010a0002c0013t0008others(4): Show | a0001c0022t0014g0037 a0001c0114t0010g0030 a0002c0013t0008g0006 others(4): Show |
7 | 372 | 0.0188 | 773 | c.275 others(790): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTGGTAG others(766): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037 | 1 | 298 | 0.0034 | 773 | c.126 others(790): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948410 | T | TTGGTGGT others(766): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0075 | a0001c0075t0007 | a0001c0075t0007g0121 | 1 | 136 | 0.0074 | 773 | c.47- others(790): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(766): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0279 | 1 | 404 | 0.0025 | 773 | c.332 others(788): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(766): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 198 | 0.0051 | 773 | c.105 others(792): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(766): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0194 |
2 | 198 | 0.0101 | 773 | c.105 others(792): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(766): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 374 | 0.0027 | 773 | c.-51 others(784): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574398 | G | GAGAGGAG others(766): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0347 | 1 | 418 | 0.0024 | 773 | c.119 others(792): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(766): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0009 | a0009c0028 | a0009c0028t0001 | a0009c0028t0001g0009 | 1 | 230 | 0.0044 | 773 | c.126 others(790): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(766): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 400 | 0.0025 | 773 | c.-5+ others(786): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(766): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 400 | 0.0025 | 773 | c.-5+ others(786): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322455 | T | TATATATA others(766): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0193 | 1 | 323 | 0.0031 | 773 | c.-26 others(784): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2514 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(766): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0162 | 1 | 282 | 0.0036 | 773 | c.623 others(790): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0215 | 1 | 262 | 0.0038 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 |
3 | 262 | 0.0115 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0017 | a0017c0019 | a0017c0019t0003 | a0017c0019t0003g0021 | 1 | 262 | 0.0038 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 262 | 0.0038 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0092 | 1 | 262 | 0.0038 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(766): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG03017.hp2 |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0002a0012c0021t0002 | a0002c0002t0002g0181 a0002c0002t0002g0194 a0012c0021t0002g0179 |
3 | 262 | 0.0115 | 773 | c.212 others(792): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(766): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0254 a0004c0006t0001g0245 |
2 | 260 | 0.0077 | 773 | c.125 others(790): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(766): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 260 | 0.0039 | 773 | c.125 others(790): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858683 | G | GCAGTGGT others(766): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0005 | a0005c0025 | a0005c0025t0007 | a0005c0025t0007g0294 | 1 | 294 | 0.0034 | 773 | c.153 others(792): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(766): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 334 | 0.0030 | 773 | c.-28 others(792): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(766): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 334 | 0.0030 | 773 | c.-28 others(792): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(766): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 334 | 0.0030 | 773 | c.-28 others(792): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(766): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0111 | 1 | 140 | 0.0071 | 773 | c.114 others(792): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(766): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 a0001c0001t0002g0289 |
2 | 312 | 0.0064 | 773 | c.293 others(792): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807931 | T | TCCCTCCC others(766): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 773 | c.-13 others(784): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1261 | chr2 | TogoVar |