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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPC2_chr2_148639751_148792569 | 148663194 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0028others(19): Show | 22 | 308 | 0.0714 | 9 | c.153 others(28): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPC2_chr2_148639751_148792569 | 148728675 | A | AGCCATGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130others(92): Show | 95 | 308 | 0.3084 | 9 | c.314 others(28): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPC2_chr2_148639751_148792569 | 148776856 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00673.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0035a0001c0001t0002g0037a0001c0001t0002g0039others(47): Show | 50 | 308 | 0.1623 | 9 | c.172 others(28): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPHA10_chr1_37710976_37770120 | 37713458 | G | GTAATAAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02602.hp2 HG02735.hp1 others(2): Show |
a0004a0007a0016others(1): Show | a0004c0003a0007c0012a0016c0045others(1): Show | a0004c0003t0003a0007c0012t0010a0016c0045t0003others(1): Show | a0004c0003t0003g0205a0004c0003t0003g0280a0007c0012t0010g0334others(2): Show | 5 | 382 | 0.0131 | 9 | c.*49 others(20): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 2517 | chr1 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16136303 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01071.hp1 others(21): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(4): Show | a0001c0002t0001g0076a0001c0002t0001g0254a0001c0004t0001g0260others(16): Show | 24 | 312 | 0.0769 | 9 | c.131 others(26): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16136713 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00673.hp2 others(29): Show |
a0001a0010a0012 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0020others(22): Show | 32 | 312 | 0.1026 | 9 | c.131 others(26): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89113485 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01109.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0010a0002c0003t0003others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0114a0001c0001t0001g0115others(9): Show | 12 | 200 | 0.0600 | 9 | c.88+ others(24): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89350145 | T | TGCCTTGC others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0055a0001c0001t0010g0099 | 2 | 200 | 0.0100 | 9 | c.130 others(28): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89352975 | A | AAAATATT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02559.hp2 others(8): Show |
a0002a0004a0005others(1): Show | a0002c0005a0004c0007a0005c0009others(2): Show | a0002c0005t0005a0002c0005t0018a0004c0007t0005others(3): Show | a0002c0005t0005g0070a0002c0005t0005g0071a0002c0005t0018g0088others(8): Show | 11 | 200 | 0.0550 | 9 | c.130 others(30): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA4_chr2_221413027_221577304 | 221566963 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0032a0001c0001t0006g0004a0001c0001t0008g0117others(2): Show | 5 | 294 | 0.0170 | 9 | c.159 others(26): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02129.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0027others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0119a0001c0001t0011g0138others(2): Show | 5 | 294 | 0.0170 | 9 | c.159 others(26): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65418862 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00733.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0004g0080a0001c0001t0005g0206a0001c0001t0008g0019others(10): Show | 13 | 234 | 0.0556 | 9 | c.152 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 6/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65445382 | T | TTTAAGAG others(2): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18973.hp1 NA18993.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0001a0001c0002t0002 | a0001c0001t0024g0025a0001c0001t0024g0026a0001c0002t0001g0027others(4): Show | 7 | 234 | 0.0299 | 9 | c.140 others(30): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65465581 | G | GGAAAGGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02145.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0012others(13): Show | a0001c0001t0006g0108a0001c0001t0010g0139a0001c0001t0012g0006others(17): Show | 20 | 234 | 0.0855 | 9 | c.140 others(30): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97324409 | C | CTTTCCTT others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025a0001c0002t0001g0044 | 2 | 82 | 0.0244 | 9 | c.160 others(30): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97565222 | A | AATATGAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0001g0078a0001c0002t0004g0079a0001c0002t0005g0055others(2): Show | 5 | 82 | 0.0610 | 9 | c.238 others(30): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 11/17 | chr3 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93291767 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0243a0001c0001t0001g0248a0001c0001t0002g0014others(11): Show | 14 | 280 | 0.0500 | 9 | c.132 others(30): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93311114 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0074a0001c0001t0001g0112a0001c0001t0001g0237others(22): Show | 26 | 280 | 0.0929 | 9 | c.132 others(30): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134811256 | T | TTGGTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(9): Show | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0002g0079others(13): Show | 16 | 134 | 0.1194 | 9 | c.58+ others(26): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134811256 | T | TTTGTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01106.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0019a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0019g0075a0001c0003t0001g0016a0001c0003t0002g0014others(2): Show | 5 | 134 | 0.0373 | 9 | c.58+ others(26): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135183026 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(1): Show | a0001c0002t0001g0087a0001c0002t0004g0110a0001c0003t0001g0016others(1): Show | 4 | 134 | 0.0299 | 9 | c.188 others(28): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB6_chr7_142850076_142876093 | 142851694 | C | CCCAAGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01081.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0062a0001c0001t0001g0063 | 3 | 311 | 0.0097 | 9 | c.-41 others(20): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 3381 | chr7 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501324 | T | TTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01496.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(1): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(14): Show | 17 | 374 | 0.0455 | 9 | c.186 others(24): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX3_chr19_15221919_15237448 | 15229885 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0122a0001c0001t0001g0123others(3): Show | 8 | 374 | 0.0214 | 9 | c.616 others(26): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
EPOR_chr19_11372207_11389314 | 11384703 | C | CTCTCTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG02056.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011 | 4 | 404 | 0.0099 | 9 | c.-49 others(18): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 390 | chr19 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143858958 | G | GGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(169): Show |
a0003a0007a0008others(132): Show | a0003c0008a0003c0030a0003c0031others(148): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(155): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(158): Show | 172 | 424 | 0.4057 | 9 | c.142 others(20): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14370/16005 | 14295/15267 | 4765/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG01106.hp1 HG01109.hp2 HG01175.hp2 others(22): Show |
a0065a0066a0067others(22): Show | a0065c0149a0066c0148a0067c0147others(22): Show | a0065c0149t0002a0066c0148t0007a0067c0147t0002others(22): Show | a0065c0149t0002g0219a0066c0148t0007g0218a0067c0147t0002g0217others(22): Show | 25 | 424 | 0.0590 | 9 | c.948 others(18): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG02027.hp1 HG02257.hp2 HG02258.hp1 others(12): Show |
a0025a0063a0069others(12): Show | a0025c0162a0063c0159a0069c0151others(12): Show | a0025c0162t0001a0063c0159t0004a0069c0151t0004others(12): Show | a0025c0162t0001g0033a0063c0159t0004g0059a0069c0151t0004g0052others(12): Show | 15 | 424 | 0.0354 | 9 | c.948 others(18): Show |
p.Ala others(24): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(110): Show | a0001c0001a0001c0005a0001c0010others(129): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(138): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0093others(147): Show | 171 | 424 | 0.4033 | 9 | c.-46 others(22): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16417468 | G | GCAAATAC others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(16): Show | 19 | 276 | 0.0688 | 9 | c.119 others(24): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51448309 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
a0002a0009 | a0002c0001a0009c0012 | a0002c0001t0007a0009c0012t0007 | a0002c0001t0007g0133a0002c0001t0007g0134a0002c0001t0007g0135others(1): Show | 4 | 152 | 0.0263 | 9 | c.562 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51451902 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0010 | a0002c0001t0011a0004c0015t0011a0006c0010t0026 | a0002c0001t0011g0130a0002c0001t0011g0131a0002c0001t0011g0132others(2): Show | 5 | 152 | 0.0329 | 9 | c.562 others(26): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42934531 | T | TTGGACAC others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG01952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001a0001c0002t0023 | a0001c0001t0008g0027a0001c0002t0001g0042a0001c0002t0001g0089others(1): Show | 4 | 352 | 0.0114 | 9 | c.564 others(26): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42938914 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0026a0001c0001t0002g0191a0001c0001t0002g0196others(69): Show | 72 | 352 | 0.2046 | 9 | c.564 others(28): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42965713 | C | CTCTCCCT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 NA18949.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0005 | a0001c0001t0014g0298a0001c0002t0005g0153a0001c0002t0005g0178 | 3 | 352 | 0.0085 | 9 | c.332 others(26): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42968954 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0016a0001c0005t0002others(1): Show | a0001c0001t0002g0202a0001c0001t0002g0242a0001c0001t0016g0258others(3): Show | 6 | 352 | 0.0171 | 9 | c.331 others(24): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42983563 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0018a0001c0001t0021others(4): Show | a0001c0001t0016g0252a0001c0001t0018g0017a0001c0001t0018g0018others(6): Show | 9 | 352 | 0.0256 | 9 | c.188 others(26): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42989567 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(34): Show | a0001c0001t0002g0184a0001c0001t0002g0242a0001c0001t0004g0039others(114): Show | 117 | 352 | 0.3324 | 9 | c.188 others(26): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96798871 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp2 others(38): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(1): Show | a0004c0004t0001g0017a0004c0004t0001g0018a0004c0004t0001g0037others(31): Show | 41 | 416 | 0.0986 | 9 | c.664 others(26): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96911866 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0047a0001c0001t0001g0169a0001c0001t0001g0186others(4): Show | 7 | 398 | 0.0176 | 9 | c.235 others(26): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBB4_chr2_211370717_212543802 | 211428243 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0002t0016 | a0001c0001t0002g0016a0001c0001t0002g0024a0001c0001t0002g0025others(4): Show | 7 | 56 | 0.1250 | 9 | c.271 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211570325 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03195.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0047a0001c0001t0004g0003a0001c0001t0006g0026others(3): Show | 6 | 56 | 0.1071 | 9 | c.230 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211721443 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0023others(3): Show | a0001c0001t0003g0017a0001c0001t0011g0042a0001c0001t0023g0012others(3): Show | 6 | 56 | 0.1071 | 9 | c.883 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211861109 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03239.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0002c0003t0001 | a0001c0001t0011g0041a0002c0003t0001g0014 | 2 | 56 | 0.0357 | 9 | c.422 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211944181 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0021a0001c0001t0020g0028 | 2 | 56 | 0.0357 | 9 | c.421 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211944183 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG02922.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0002g0016a0001c0001t0005g0015a0001c0001t0005g0044others(6): Show | 9 | 56 | 0.1607 | 9 | c.421 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211987341 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0045a0001c0001t0002g0032a0001c0001t0004g0003others(9): Show | 12 | 56 | 0.2143 | 9 | c.235 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211997909 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0045a0001c0001t0002g0032a0001c0001t0008g0004others(2): Show | 5 | 56 | 0.0893 | 9 | c.235 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212187421 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0001 | a0001c0001t0024g0038a0001c0002t0001g0037 | 2 | 56 | 0.0357 | 9 | c.83- others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212191545 | G | GTGTTATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0025others(25): Show | 28 | 56 | 0.5000 | 9 | c.83- others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar |