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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP91_chr3_119698022_119772102 | 119770466 | TTATTAAA others(74): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0330 | 1 | 386 | 0.0026 | -81 | c.*54 others(92): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 3365 | chr3 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132870566 | CATCCCCA others(74): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 310 | 0.0032 | -81 | c.453 others(100): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126865088 | CTCCTCCT others(74): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 216 | 0.0046 | -81 | c.495 others(100): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42723024 | TAATAAGA others(74): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02698.hp1 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 |
3 | 282 | 0.0106 | -81 | c.250 others(98): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLDN8_chr21_30209006_30221097 | 30210219 | CATATATA others(74): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp1 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000 a0002c0002t0002g0000 |
2 | 466 | 0.0043 | -81 | c.*49 others(92): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3786 | chr21 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140490006 | AAGTACAT others(74): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0018t0002 | a0001c0001t0002g0105 a0001c0018t0002g0006 |
2 | 110 | 0.0182 | -81 | c.134 others(102): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172686 | CGGGAGAG others(74): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0023 | 1 | 322 | 0.0031 | -81 | c.*34 others(92): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2629 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172892 | CGGGAGAG others(74): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 322 | 0.0031 | -81 | c.*32 others(92): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2423 | chr2 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2287614 | GAGAAGGA others(74): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02717.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0003g0006 a0001c0001t0008g0043 a0001c0002t0002g0102 others(3): Show |
6 | 116 | 0.0517 | -81 | c.-14 others(102): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99598277 | TTCTTTTC others(74): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01123.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0006g0066 others(13): Show |
16 | 66 | 0.2424 | -81 | c.55+ others(98): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138742045 | GGTGATGG others(74): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0132 | 1 | 158 | 0.0063 | -81 | c.208 others(100): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587946 | GCCCCCCG others(74): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01928.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0101 a0001c0002t0002g0041 others(5): Show |
8 | 348 | 0.0230 | -81 | c.928 others(96): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92173348 | TATATATA others(74): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0152 | 1 | 388 | 0.0026 | -81 | c.*11 others(94): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1204 | chr14 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542611 | TATATATA others(74): Show |
T | intron_variant | MODIFIER | HG02145.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0004 a0001c0001t0015g0005 |
2 | 390 | 0.0051 | -81 | c.230 others(98): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542612 | ATATATAT others(74): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0275 a0001c0001t0015g0003 |
2 | 390 | 0.0051 | -81 | c.230 others(98): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542614 | ATATATAT others(74): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006 | 1 | 390 | 0.0026 | -81 | c.230 others(98): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67301966 | AAGAAAGA others(74): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0002 | 1 | 46 | 0.0217 | -81 | c.580 others(100): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82448246 | AAGTGGAC others(74): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0003g0087 a0001c0001t0004g0016 others(1): Show |
6 | 416 | 0.0144 | -81 | c.86- others(94): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008398 | GTCCCAAG others(74): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(121): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(52): Show |
124 | 412 | 0.3010 | -81 | c.319 others(96): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90008584 | CGCACACC others(74): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 412 | 0.0024 | -81 | c.319 others(96): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DCAF6_chr1_167931683_168080836 | 167980339 | AAGTAGAG others(74): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 others(4): Show |
7 | 266 | 0.0263 | -81 | c.438 others(98): Show |
DCAF6 | ENSG00000143164.16 | transcript | ENST00000367840.4 | protein_coding | 4/21 | chr1 | TogoVar | |||||||
DCK_chr4_70988649_71035914 | 71032411 | CGTGTCTC others(74): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 282 | 0.0036 | -81 | c.*30 others(92): Show |
DCK | ENSG00000156136.10 | transcript | ENST00000286648.10 | protein_coding | 1498 | chr4 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212092 | TTACTCTC others(74): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0110 | 1 | 148 | 0.0068 | -81 | c.212 others(102): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2279734 | GAAAGAGA others(74): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 50 | 0.0200 | -81 | c.388 others(100): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2281148 | GAGAGAGA others(74): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 50 | 0.0200 | -81 | c.388 others(100): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 400932 | ATGATTTT others(74): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 88 | 0.0114 | -81 | c.115 others(100): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 402852 | GTTCATCA others(74): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0015 | a0001c0001t0002a0001c0005t0002a0001c0015t0002 | a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0005t0002g0010 others(1): Show |
4 | 88 | 0.0455 | -81 | c.115 others(100): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 496066 | CTTGAGTG others(74): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02300.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0002 | a0001c0001t0001g0049 a0001c0012t0002g0052 |
2 | 88 | 0.0227 | -81 | c.86- others(96): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 848415 | CTGTTCCA others(74): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03486.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0017a0001c0009t0012 | a0001c0003t0017g0004 a0001c0009t0012g0006 |
2 | 40 | 0.0500 | -81 | c.19- others(98): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67841443 | AGGAACTT others(74): Show |
A | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 384 | 0.0026 | -81 | c.-35 others(92): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 3256 | chr10 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 403921 | TATATATA others(74): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0116 | 1 | 256 | 0.0039 | -81 | c.323 others(98): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69616406 | CCTTCTCT others(74): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(98): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(76): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(98): Show |
101 | 170 | 0.5941 | -81 | c.289 others(100): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137567973 | GTGAGGAA others(74): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 340 | 0.0029 | -81 | c.641 others(98): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154058957 | CACCCCCC others(74): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0007a0001c0018t0009 | a0001c0003t0007g0024 a0001c0018t0009g0023 |
2 | 38 | 0.0526 | -81 | c.243 others(98): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154060329 | AGGGGGAG others(74): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02280.hp2 |
a0002 | a0002c0012a0002c0022 | a0002c0012t0021a0002c0022t0023 | a0002c0012t0021g0035 a0002c0022t0023g0027 |
2 | 38 | 0.0526 | -81 | c.243 others(98): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154063345 | GAACCCCA others(74): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02965.hp2 |
a0001a0002 | a0001c0024a0002c0004 | a0001c0024t0028a0002c0004t0006 | a0001c0024t0028g0003 a0002c0004t0006g0028 |
2 | 38 | 0.0526 | -81 | c.243 others(100): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP7_chr9_137105546_137119733 | 137114132 | CCCCCGCC others(74): Show |
C | intron_variant | MODIFIER | HG04184.hp1 NA20805.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 a0001c0003t0001g0055 |
2 | 454 | 0.0044 | -81 | c.321 others(95): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
ECM1_chr1_150503109_150518789 | 150506493 | CACACACA others(74): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 | 1 | 420 | 0.0024 | -81 | c.-17 others(92): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 1615 | chr1 | TogoVar | |||||||
EEF1D_chr8_143574728_143602415 | 143575769 | GGGTGGGG others(74): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(126): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(53): Show |
129 | 389 | 0.3316 | -81 | c.*39 others(92): Show |
EEF1D | ENSG00000104529.19 | transcript | ENST00000618139.4 | protein_coding | 3958 | chr8 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675502 | GGGGACTG others(74): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 432 | 0.0023 | -81 | c.*32 others(92): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2825 | chr9 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185230901 | GTATGATT others(74): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0001c0018others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0013t0001others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(123): Show |
133 | 348 | 0.3822 | -81 | c.352 others(98): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306231 | GGGGAGAG others(74): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 320 | 0.0031 | -81 | c.-8- others(98): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306280 | GGAGAGGG others(74): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 320 | 0.0031 | -81 | c.-8- others(98): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927814 | GGGTGGTG others(74): Show |
G | intron_variant | MODIFIER | NA18956.hp2 NA18999.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0065 a0002c0001t0002g0183 |
2 | 288 | 0.0069 | -81 | c.190 others(100): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796209 | ATTATATA others(74): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0013a0001c0009t0013 | a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0003t0013g0298 others(3): Show |
6 | 332 | 0.0181 | -81 | c.-37 others(92): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3257 | chr14 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 135155642 | AAAAATAC others(74): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0007a0001c0002t0006others(1): Show | a0001c0001t0001g0055 a0001c0001t0007g0027 a0001c0002t0006g0125 others(1): Show |
4 | 134 | 0.0299 | -81 | c.142 others(100): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1015965 | ATATTTAA others(74): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00738.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0007a0001c0001t0057a0001c0001t0086others(19): Show | a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0057g0156 others(20): Show |
23 | 162 | 0.1420 | -81 | c.-15 others(102): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914602 | GTCTCTCC others(74): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0026 a0001c0004t0005g0027 a0001c0004t0005g0213 |
5 | 330 | 0.0152 | -81 | c.-13 others(98): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675131 | CGAGGACA others(74): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG03041.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0002 | a0001c0002t0001g0023 a0003c0004t0002g0322 |
2 | 378 | 0.0053 | -81 | c.305 others(98): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675923 | TCGTGAGG others(74): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 378 | 0.0027 | -81 | c.305 others(98): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar |