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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPB41L4A_chr5_112157619_112424277 | 112314505 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 HG03540.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0003a0002c0003t0002others(1): Show | a0001c0001t0001g0133a0001c0002t0003g0108a0002c0003t0002g0006others(1): Show | 4 | 228 | 0.0175 | -15 | c.100 others(32): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112346216 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0177 | 1 | 228 | 0.0044 | -15 | c.100 others(34): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112408704 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp1 others(1): Show |
a0004a0012 | a0004c0010a0004c0014a0012c0024 | a0004c0010t0011a0004c0014t0011a0012c0024t0033 | a0004c0010t0011g0072a0004c0014t0011g0069a0004c0014t0011g0070others(1): Show | 4 | 228 | 0.0175 | -15 | c.99+ others(32): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109244434 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02129.hp2 NA18747.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0072a0001c0001t0001g0073others(11): Show | 14 | 318 | 0.0440 | -15 | c.134 others(32): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 14/25 | chr9 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109266968 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02735.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0001g0070a0001c0001t0011g0103a0001c0001t0012g0143others(6): Show | 9 | 318 | 0.0283 | -15 | c.533 others(30): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 4/25 | chr9 | TogoVar | ||||||
EPB42_chr15_43192227_43226018 | 43193332 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 288 | 0.0035 | -15 | c.*39 others(26): Show |
EPB42 | ENSG00000166947.15 | transcript | ENST00000441366.7 | protein_coding | 3894 | chr15 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148640563 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0252a0001c0001t0001g0253 | 3 | 308 | 0.0097 | -15 | c.-44 others(26): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 4187 | chr2 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148733479 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 308 | 0.0033 | -15 | c.314 others(34): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPCAM_chr2_47364311_47392020 | 47383607 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0358a0001c0005t0001g0359 | 2 | 450 | 0.0044 | -15 | c.859 others(32): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPHA10_chr1_37710976_37770120 | 37732863 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(71): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0020others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0051a0001c0001t0001g0097a0001c0001t0001g0102others(65): Show | 74 | 382 | 0.1937 | -15 | c.149 others(34): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16136713 | AAAGAAGA others(8): Show |
A | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 312 | 0.0032 | -15 | c.131 others(32): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89211727 | TCTTCTTC others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG01257.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0021a0002c0002t0002others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0095others(11): Show | 14 | 200 | 0.0700 | -15 | c.814 others(32): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89219703 | GTTTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02165.hp1 NA18981.hp2 others(1): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0003c0004t0002a0003c0004t0014 | a0002c0003t0003g0172a0003c0004t0002g0167a0003c0004t0002g0171others(1): Show | 4 | 200 | 0.0200 | -15 | c.814 others(32): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA4_chr2_221413027_221577304 | 221499739 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0003a0001c0001t0005g0001a0001c0001t0005g0143 | 3 | 294 | 0.0102 | -15 | c.979 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 4/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566875 | AAGGAGAA others(8): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0282a0001c0001t0012g0275a0001c0001t0016g0058others(2): Show | 5 | 294 | 0.0170 | -15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566942 | AGGAGAAG others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0269 | 1 | 294 | 0.0034 | -15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566963 | GGAAGAGG others(8): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 294 | 0.0034 | -15 | c.159 others(32): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65465530 | AAGAAAGG others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG03710.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0024a0001c0001t0004g0075a0001c0001t0009g0073 | 3 | 234 | 0.0128 | -15 | c.140 others(36): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65609800 | CAGTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp1 others(12): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0010a0001c0001t0021a0001c0001t0026others(6): Show | a0001c0001t0010g0139a0001c0001t0010g0149a0001c0001t0010g0151others(12): Show | 15 | 234 | 0.0641 | -15 | c.247 others(32): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 2/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65659319 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(91): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0003g0076a0001c0001t0003g0103a0001c0001t0004g0075others(91): Show | 94 | 234 | 0.4017 | -15 | c.181 others(34): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97068154 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0024 | a0001c0002t0001g0074a0001c0002t0024g0031 | 2 | 82 | 0.0244 | -15 | c.111 others(36): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97100386 | ACATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01192.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0058others(36): Show | 39 | 82 | 0.4756 | -15 | c.111 others(38): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97278957 | TAATAAGC others(8): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0039 | 1 | 82 | 0.0122 | -15 | c.160 others(36): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | chr3 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22567258 | ACCCATAC others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03209.hp1 NA18906.hp1 others(1): Show |
a0001a0003a0007 | a0001c0002a0003c0018a0007c0023 | a0001c0002t0002a0003c0018t0003a0003c0018t0047others(1): Show | a0001c0002t0002g0012a0003c0018t0003g0289a0003c0018t0047g0160others(1): Show | 4 | 342 | 0.0117 | -15 | c.95- others(30): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135183031 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01433.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0016 | a0001c0001t0002a0001c0004t0001a0001c0016t0001 | a0001c0001t0002g0038a0001c0001t0002g0050a0001c0004t0001g0030others(2): Show | 5 | 134 | 0.0373 | -15 | c.188 others(34): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22793942 | GTACTCAC others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0031others(2): Show | a0001c0001t0002g0058a0001c0001t0012g0037a0001c0001t0031g0040others(2): Show | 5 | 248 | 0.0202 | -15 | c.811 others(32): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3/15 | chr1 | TogoVar | ||||||
EPHB3_chr3_184556785_184587408 | 184585450 | GGATTGTA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0002others(7): Show | a0001c0001t0001g0027a0001c0002t0004g0002a0001c0003t0002g0005others(41): Show | 63 | 358 | 0.1760 | -15 | c.*38 others(26): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 3043 | chr3 | TogoVar | ||||||
EPHB4_chr7_100797565_100832523 | 100801787 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0120 | 1 | 364 | 0.0028 | -15 | c.*16 others(26): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 777 | chr7 | TogoVar | ||||||
EPHB6_chr7_142850076_142876093 | 142868365 | AGCAGGGC others(8): Show |
A | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0012 | a0012c0016 | a0012c0016t0004 | a0012c0016t0004g0098 | 1 | 311 | 0.0032 | -15 | c.203 others(29): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EPHX2_chr8_27486143_27550564 | 27487357 | ACTCTTCT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(79): Show |
a0001a0008a0015others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0249a0001c0002t0002g0010others(77): Show | 82 | 374 | 0.2193 | -15 | c.-38 others(26): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 3785 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27487387 | TCTCTTCT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0011 | a0011c0033 | a0011c0033t0004 | a0011c0033t0004g0015 | 1 | 374 | 0.0027 | -15 | c.-38 others(26): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 3755 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501324 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG02572.hp2 others(3): Show |
a0001a0004a0018 | a0001c0002a0001c0005a0001c0031others(2): Show | a0001c0002t0002a0001c0005t0003a0001c0031t0001others(2): Show | a0001c0002t0002g0010a0001c0005t0003g0085a0001c0031t0001g0191others(2): Show | 6 | 374 | 0.0160 | -15 | c.186 others(30): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX2_chr8_27486143_27550564 | 27524241 | TATTCCTT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0015others(3): Show | a0001c0002a0001c0025a0002c0008others(4): Show | a0001c0002t0002a0001c0025t0001a0002c0008t0002others(4): Show | a0001c0002t0002g0010a0001c0002t0002g0017a0001c0002t0002g0018others(69): Show | 73 | 374 | 0.1952 | -15 | c.105 others(34): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX2_chr8_27486143_27550564 | 27535163 | ATATTTTA others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01167.hp1 others(7): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0350a0003c0006t0002g0351a0003c0006t0002g0352others(7): Show | 10 | 374 | 0.0267 | -15 | c.117 others(34): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX4_chr1_92024985_92068538 | 92064727 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0070a0001c0001t0001g0094others(1): Show | 4 | 236 | 0.0170 | -15 | c.*14 others(26): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1190 | chr1 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143865354 | GGGCGGCG others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG00323.hp1 HG00544.hp1 HG00609.hp2 others(36): Show |
a0003a0010a0011others(21): Show | a0003c0008a0003c0030a0003c0031others(25): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(28): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(31): Show | 39 | 424 | 0.0920 | -15 | c.788 others(24): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7974/16005 | 7885/15267 | 2629/5088 | chr8 | TogoVar | ||
EPRS1_chr1_219963600_220051505 | 220008107 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp1 NA18978.hp2 NA19058.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0063a0001c0001t0002g0327a0001c0002t0001g0009others(1): Show | 4 | 358 | 0.0112 | -15 | c.160 others(32): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 13/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220044681 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02056.hp1 HG02056.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0001 | a0001c0001t0002g0307a0001c0001t0002g0308a0001c0001t0002g0309others(3): Show | 6 | 358 | 0.0168 | -15 | c.46+ others(30): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1/31 | chr1 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16350581 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01192.hp2 HG01261.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(18): Show | 21 | 276 | 0.0761 | -15 | c.*51 others(26): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4665 | chr19 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16362511 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0246a0001c0001t0001g0247others(1): Show | 4 | 276 | 0.0145 | -15 | c.238 others(32): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16393077 | TATAATAA others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(54): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(54): Show | 57 | 276 | 0.2065 | -15 | c.196 others(32): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51357411 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 |
a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0001a0002c0001t0012g0003 | 2 | 152 | 0.0132 | -15 | c.254 others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51391455 | TAATAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
a0002a0007 | a0002c0001a0007c0009 | a0002c0001t0006a0002c0001t0012a0002c0001t0016others(1): Show | a0002c0001t0006g0028a0002c0001t0006g0029a0002c0001t0006g0034others(6): Show | 9 | 152 | 0.0592 | -15 | c.211 others(34): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51508186 | GAGAAAAG others(8): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0040 | 1 | 152 | 0.0066 | -15 | c.33+ others(32): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55077932 | CAATAATA others(8): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 340 | 0.0029 | -15 | c.18- others(28): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01109.hp2 others(32): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0002g0217a0001c0001t0002g0234a0001c0001t0002g0235others(32): Show | 35 | 352 | 0.0994 | -15 | c.563 others(34): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0013 | a0013c0018 | a0013c0018t0002 | a0013c0018t0002g0066 | 1 | 404 | 0.0025 | -15 | c.194 others(32): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EQTN_chr9_27279654_27302150 | 27285133 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 446 | 0.0022 | -15 | c.636 others(30): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96896040 | TTGACAGG others(8): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0070 | 1 | 398 | 0.0025 | -15 | c.124 others(32): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBB4_chr2_211370717_212543802 | 211431616 | CTTATTAT others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 56 | 0.0179 | -15 | c.248 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar |