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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPC2_chr2_148639751_148792569 | 148640563 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 |
3 | 288 | 0.0104 | -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 | a0001c0001t0001g0273 | 1 | 15 | 0.0667 | -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 | a0001c0005t0001g0357 a0001c0005t0001g0358 |
2 | 37 | 0.0541 | -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 | a0001c0001t0001g0053 a0001c0001t0001g0098 a0001c0001t0001g0103 others(65): Show |
74 | 111 | 0.6667 | -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 | a0001c0001t0001g0010 | 1 | 122 | 0.0082 | -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 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0095 others(11): Show |
14 | 198 | 0.0707 | -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 | a0002c0003t0003g0172 a0003c0004t0002g0167 a0003c0004t0002g0171 others(1): Show |
4 | 75 | 0.0533 | -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 | a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0005g0149 |
3 | 291 | 0.0103 | -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 | a0001c0001t0001g0280 a0001c0001t0012g0274 a0001c0001t0016g0059 others(2): Show |
5 | 275 | 0.0182 | -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 | a0001c0002t0029g0268 | 1 | 280 | 0.0036 | -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 | a0001c0001t0001g0081 | 1 | 172 | 0.0058 | -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 | a0001c0001t0004g0024 a0001c0001t0004g0075 a0001c0001t0009g0073 |
3 | 147 | 0.0204 | -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 |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0010a0001c0001t0021a0001c0001t0026others(6): Show | a0001c0001t0010g0139 a0001c0001t0010g0149 a0001c0001t0010g0151 others(12): Show |
15 | 232 | 0.0647 | -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(90): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(35): Show | a0001c0001t0003g0076 a0001c0001t0003g0103 a0001c0001t0004g0075 others(90): Show |
93 | 98 | 0.9490 | -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 | a0001c0002t0001g0074 a0001c0002t0024g0031 |
2 | 81 | 0.0247 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0058 others(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 | a0001c0003t0003g0037 | 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 |
a0001a0004a0015 | a0001c0002a0004c0018a0015c0023 | a0001c0002t0002a0004c0018t0003a0004c0018t0047others(1): Show | a0001c0002t0002g0016 a0004c0018t0003g0284 a0004c0018t0047g0161 others(1): Show |
4 | 340 | 0.0118 | -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 | a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0004t0001g0037 others(2): Show |
5 | 112 | 0.0446 | -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 | a0001c0001t0002g0058 a0001c0001t0012g0037 a0001c0001t0031g0040 others(2): Show |
5 | 246 | 0.0203 | -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 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0029 a0001c0002t0001g0002 a0001c0003t0001g0177 others(41): Show |
63 | 356 | 0.1770 | -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 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0120 | 1 | 362 | 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 | a0008 | a0008c0016 | a0008c0016t0004 | a0008c0016t0004g0098 | 1 | 310 | 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 |
a0001a0008a0016others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0245 a0001c0002t0002g0002 others(61): Show |
82 | 206 | 0.3981 | -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 | a0010 | a0010c0033 | a0010c0033t0004 | a0010c0033t0004g0043 | 1 | 371 | 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 |
a0001a0004a0017 | a0001c0002a0001c0005a0001c0031others(2): Show | a0001c0002t0002a0001c0005t0003a0001c0031t0001others(2): Show | a0001c0002t0002g0002 a0001c0005t0003g0095 a0001c0031t0001g0147 others(2): Show |
6 | 95 | 0.0632 | -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 | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0012 others(56): Show |
73 | 372 | 0.1962 | -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 | a0003c0006t0002g0302 a0003c0006t0002g0303 a0003c0006t0002g0304 others(7): Show |
10 | 365 | 0.0274 | -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 | a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0094 others(1): Show |
4 | 22 | 0.1818 | -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 |
a0001a0002a0005others(16): Show | a0001c0001a0001c0010a0002c0002others(20): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(25): Show | a0001c0001t0002g0100 a0001c0001t0005g0029 a0001c0001t0015g0343 others(29): Show |
39 | 83 | 0.4699 | -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 | a0001c0001t0002g0066 a0001c0001t0002g0318 a0001c0002t0001g0011 others(1): Show |
4 | 35 | 0.1143 | -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 | a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(3): Show |
6 | 18 | 0.3333 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(18): Show |
21 | 37 | 0.5676 | -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 | a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | 180 | 0.0222 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(54): Show |
57 | 80 | 0.7125 | -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 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | 150 | 0.0133 | -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 |
a0002a0009 | a0002c0001a0009c0009 | a0002c0001t0006a0002c0001t0012a0002c0001t0016others(1): Show | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | 122 | 0.0738 | -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 | a0002c0001t0004g0044 | 1 | 81 | 0.0123 | -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 | a0002c0002t0001g0059 | 1 | 233 | 0.0043 | -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 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0002g0215 a0001c0001t0002g0232 a0001c0001t0002g0233 others(32): Show |
35 | 38 | 0.9211 | -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 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0066 | 1 | 53 | 0.0189 | -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 | 156 | 0.0064 | -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 | a0002c0002t0001 | a0002c0002t0001g0082 | 1 | 396 | 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 | |||||||
ERBB4_chr2_211370717_212543802 | 211580891 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0021 a0001c0001t0002g0025 a0001c0001t0003g0050 others(8): Show |
11 | 56 | 0.1964 | -15 | c.230 others(36): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622987 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 52 | 0.0192 | -15 | c.220 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211773597 | TTTATATA others(8): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 56 | 0.0179 | -15 | c.556 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211839152 | AAGGAGGA others(8): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0028 | 1 | 6 | 0.1667 | -15 | c.422 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211873008 | GAAAAAGT others(8): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02145.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0045 a0001c0001t0002g0047 a0001c0001t0003g0049 others(16): Show |
19 | 56 | 0.3393 | -15 | c.421 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212188255 | CCTCCCTC others(8): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0004g0033 a0001c0001t0005g0044 a0001c0001t0006g0026 others(5): Show |
8 | 55 | 0.1455 | -15 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar |