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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA4_chr2_221413027_221577304 | 221526852 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01975.hp2 HG01993.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(5): Show | a0001c0001t0001g0106a0001c0001t0001g0180a0001c0001t0001g0181others(9): Show | 12 | 294 | 0.0408 | -22 | c.824 others(41): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221545212 | CCGAGGTG others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(148): Show | 151 | 294 | 0.5136 | -22 | c.823 others(41): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65348677 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01099.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0008a0001c0001t0018a0001c0001t0022others(2): Show | a0001c0001t0008g0019a0001c0001t0008g0083a0001c0001t0008g0084others(9): Show | 12 | 234 | 0.0513 | -22 | c.244 others(39): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 13/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65506624 | GTCTTTTG others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(14): Show | a0001c0001t0003g0043a0001c0001t0003g0047a0001c0001t0005g0158others(31): Show | 34 | 234 | 0.1453 | -22 | c.911 others(41): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65574689 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0003g0088a0001c0001t0006g0095a0001c0001t0006g0096others(14): Show | 17 | 234 | 0.0727 | -22 | c.910 others(41): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97187666 | AGAAAGAA others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0011 | a0001c0003t0003g0012a0001c0003t0011g0011 | 2 | 82 | 0.0244 | -22 | c.111 others(43): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01952.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0002 | a0001c0002t0001g0044a0001c0007t0002g0033 | 2 | 82 | 0.0244 | -22 | c.160 others(43): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97492547 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 82 | 0.0122 | -22 | c.220 others(41): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA7_chr6_93235020_93424559 | 93359860 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0189 | 1 | 280 | 0.0036 | -22 | c.833 others(39): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405801 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0155 | 1 | 280 | 0.0036 | -22 | c.832 others(39): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22579084 | CGTGCATG others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(37): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(6): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0010others(21): Show | a0000c0007t0010g0158a0001c0001t0002g0070a0001c0001t0010g0168others(35): Show | 40 | 342 | 0.1170 | -22 | c.823 others(39): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22579095 | GCATGTGT others(15): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0171 | 1 | 342 | 0.0029 | -22 | c.823 others(39): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22581864 | ACAAGGAA others(15): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 342 | 0.0029 | -22 | c.824 others(39): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134941752 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 134 | 0.0075 | -22 | c.124 others(39): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135183016 | TTTTCTTT others(15): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0029 | 1 | 134 | 0.0075 | -22 | c.188 others(41): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHX2_chr8_27486143_27550564 | 27487375 | CTTCTCTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02970.hp2 |
a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0306a0003c0007t0008g0307 | 2 | 374 | 0.0054 | -22 | c.-38 others(33): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 3767 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27515535 | TAGGTTGG others(15): Show |
T | intron_variant | MODIFIER | HG01261.hp2 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0216a0002c0003t0003g0217 | 2 | 374 | 0.0054 | -22 | c.736 others(37): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX3_chr19_15221919_15237448 | 15228503 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 374 | 0.0027 | -22 | c.617 others(37): Show |
EPHX3 | ENSG00000105131.8 | transcript | ENST00000221730.8 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92064727 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0093others(2): Show | 5 | 236 | 0.0212 | -22 | c.*14 others(33): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1190 | chr1 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19288021 | ACCCTCCA others(15): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 282 | 0.0036 | -22 | c.766 others(39): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPO_chr7_100715468_100728700 | 100720818 | CCACCGCG others(15): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 3 | 380 | 0.0079 | -22 | c.-15 others(31): Show |
EPO | ENSG00000130427.3 | transcript | ENST00000252723.3 | protein_coding | 1/5 | 131 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01346.hp2 HG02155.hp2 others(12): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0002g0095others(12): Show | 15 | 358 | 0.0419 | -22 | c.111 others(39): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51415796 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0145 | 1 | 152 | 0.0066 | -22 | c.111 others(41): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 721715 | GGCAGGTG others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01109.hp1 others(46): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0006a0001c0003t0013a0001c0004t0004others(14): Show | a0001c0001t0006g0350a0001c0003t0013g0348a0001c0004t0004g0042others(43): Show | 49 | 406 | 0.1207 | -22 | c.895 others(35): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42911262 | TGTGCGCG others(15): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(55): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(17): Show | a0001c0001t0002g0223a0001c0001t0002g0234a0001c0001t0002g0235others(55): Show | 58 | 352 | 0.1648 | -22 | c.741 others(39): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 8/10 | chr13 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG01516.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0008others(4): Show | a0001c0001t0002g0167a0002c0002t0001g0016a0002c0002t0001g0227others(6): Show | 9 | 416 | 0.0216 | -22 | c.-36 others(31): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96874158 | GAAAGAAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01975.hp1 others(5): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0020 | a0001c0001t0001a0002c0002t0010a0012c0020t0010 | a0001c0001t0001g0162a0001c0001t0001g0167a0001c0001t0001g0179others(4): Show | 8 | 398 | 0.0201 | -22 | c.-24 others(33): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2341 | chr5 | TogoVar | ||||||
ERAS_chrX_48821513_48834869 | 48834779 | TCACACAC others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 4 | 308 | 0.0130 | -22 | c.*49 others(33): Show |
ERAS | ENSG00000187682.2 | transcript | ENST00000636362.1 | protein_coding | 4911 | chrX | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622988 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | HG03239.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0018 | a0001c0001t0002g0016a0001c0002t0018g0010 | 2 | 56 | 0.0357 | -22 | c.220 others(39): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772816 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0018a0002c0003t0001 | a0001c0002t0018g0010a0002c0003t0001g0014 | 2 | 56 | 0.0357 | -22 | c.556 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0026 | a0001c0001t0001g0021a0001c0001t0014g0007a0001c0001t0026g0052 | 3 | 56 | 0.0536 | -22 | c.82+ others(39): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65965382 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(1): Show |
a0007a0008 | a0007c0012a0008c0011 | a0007c0012t0011a0008c0011t0011 | a0007c0012t0011g0022a0007c0012t0011g0023a0008c0011t0011g0024others(1): Show | 4 | 306 | 0.0131 | -22 | c.-57 others(41): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66065591 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00673.hp2 others(52): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0002c0003others(5): Show | a0001c0002t0002a0001c0007t0012a0002c0003t0002others(12): Show | a0001c0002t0002g0032a0001c0002t0002g0242a0001c0002t0002g0251others(52): Show | 55 | 306 | 0.1797 | -22 | c.363 others(41): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66077773 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 306 | 0.0033 | -22 | c.413 others(39): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66077796 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0161a0001c0007t0010g0162a0001c0007t0010g0163others(3): Show | 6 | 306 | 0.0196 | -22 | c.413 others(39): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121655 | CTCTATCT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01109.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0020a0001c0001t0021a0001c0001t0024others(8): Show | a0001c0001t0020g0113a0001c0001t0021g0116a0001c0001t0024g0112others(8): Show | 11 | 162 | 0.0679 | -22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121815 | CTCTATCT others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0075a0002c0002t0104others(1): Show | a0001c0001t0001g0080a0002c0002t0075g0073a0002c0002t0104g0043others(1): Show | 4 | 162 | 0.0247 | -22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1121825 | GTCTCTAT others(15): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 162 | 0.0062 | -22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1143329 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0072 | a0002c0002t0072g0145 | 1 | 162 | 0.0062 | -22 | c.173 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1180280 | TGTGCGCG others(15): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 162 | 0.0062 | -22 | c.173 others(39): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1341181 | ACTCCTGG others(15): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01192.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0028a0001c0001t0090others(5): Show | a0001c0001t0003g0029a0001c0001t0028g0129a0001c0001t0090g0032others(5): Show | 8 | 162 | 0.0494 | -22 | c.278 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418567 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0038 | a0001c0001t0004g0075a0002c0002t0038g0082 | 2 | 162 | 0.0124 | -22 | c.302 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418619 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0133a0002c0002t0104 | a0001c0001t0133g0094a0002c0002t0104g0043 | 2 | 162 | 0.0124 | -22 | c.302 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1440600 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02559.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0049a0001c0001t0133a0002c0002t0005others(2): Show | a0001c0001t0049g0157a0001c0001t0133g0094a0002c0002t0005g0133others(2): Show | 5 | 162 | 0.0309 | -22 | c.302 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55675894 | CTTTTCTT others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 74 | 0.0135 | -22 | c.*39 others(39): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55714663 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG01346.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0052a0001c0001t0002g0049a0001c0001t0002g0058others(4): Show | 7 | 74 | 0.0946 | -22 | c.271 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55714665 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02258.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0021a0002c0003t0003g0056 | 2 | 74 | 0.0270 | -22 | c.271 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55720214 | CTTCTTCT others(15): Show |
C | intron_variant | MODIFIER | HG00741.hp1 NA18962.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0046a0002c0003t0001g0039 | 2 | 74 | 0.0270 | -22 | c.271 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55733542 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02145.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0002g0008a0001c0001t0002g0037a0001c0001t0002g0066others(3): Show | 6 | 74 | 0.0811 | -22 | c.271 others(41): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55808701 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004 | a0001c0001t0006g0026a0001c0001t0006g0027a0001c0002t0004g0001 | 3 | 74 | 0.0405 | -22 | c.256 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar |