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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPB41_chr1_28909569_29125041 | 29034973 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0020a0001c0001t0034a0001c0002t0003others(6): Show | a0001c0001t0020g0214a0001c0001t0034g0189a0001c0002t0003g0046others(23): Show | 26 | 312 | 0.0833 | -9 | c.136 others(26): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPC1_chr10_32262751_32352158 | 32290483 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01099.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0033others(28): Show | 32 | 318 | 0.1006 | -9 | c.975 others(24): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32347347 | GGGGCGGA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG03579.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(2): Show | 5 | 318 | 0.0157 | -9 | c.-44 others(18): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 190 | chr10 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148663194 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(5): Show | 8 | 308 | 0.0260 | -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 | 148663592 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp2 HG02132.hp1 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0001g0029others(6): Show | 9 | 308 | 0.0292 | -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 | 148739830 | CTTCTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0001g0029others(4): Show | 7 | 308 | 0.0227 | -9 | c.314 others(26): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPC2_chr2_148639751_148792569 | 148739833 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0307others(3): Show | 6 | 308 | 0.0195 | -9 | c.314 others(26): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPCAM_chr2_47364311_47392020 | 47383607 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01106.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0028others(30): Show | 40 | 450 | 0.0889 | -9 | c.859 others(26): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPHA10_chr1_37710976_37770120 | 37725506 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01081.hp1 others(11): Show |
a0006a0007a0029 | a0006c0009a0007c0012a0029c0031 | a0006c0009t0003a0007c0012t0010a0029c0031t0019 | a0006c0009t0003g0045a0006c0009t0003g0048a0006c0009t0003g0060others(9): Show | 14 | 382 | 0.0367 | -9 | c.177 others(28): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 8/16 | chr1 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89191284 | ATTTTTAT others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02027.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0007 | a0001c0001t0001g0011a0001c0001t0001g0012a0002c0002t0004g0010others(4): Show | 7 | 200 | 0.0350 | -9 | c.154 others(28): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89202527 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0051others(9): Show | 12 | 200 | 0.0600 | -9 | c.154 others(26): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89211733 | TCTTCTTC others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01346.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0004a0002c0006t0002 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0151others(2): Show | 5 | 200 | 0.0250 | -9 | c.814 others(26): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89211742 | CCTTCTTC others(2): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18941.hp1 NA18981.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0003a0003c0004t0002 | a0001c0001t0001g0164a0001c0001t0001g0174a0002c0003t0003g0172others(3): Show | 6 | 200 | 0.0300 | -9 | c.814 others(26): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89262963 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0103a0001c0001t0001g0164others(28): Show | 31 | 200 | 0.1550 | -9 | c.814 others(28): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89481532 | TATTCTGA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0020 | a0001c0001t0017g0152a0001c0001t0020g0153 | 2 | 200 | 0.0100 | -9 | c.*20 others(20): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 17/17 | 2033 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
EPHA4_chr2_221413027_221577304 | 221499745 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp1 HG02129.hp2 NA18939.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0151a0001c0001t0001g0208a0001c0001t0006g0238others(2): Show | 5 | 294 | 0.0170 | -9 | c.979 others(26): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 4/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221522735 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0040others(3): Show | a0001c0001t0001g0245a0001c0001t0002g0095a0001c0001t0002g0097others(6): Show | 9 | 294 | 0.0306 | -9 | c.824 others(28): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221526852 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02080.hp1 HG02300.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0065a0001c0001t0001g0069a0001c0001t0001g0121others(10): Show | 13 | 294 | 0.0442 | -9 | c.824 others(28): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566875 | AAGGAGAA others(2): Show |
A | intron_variant | MODIFIER | NA18975.hp1 NA19068.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065a0001c0001t0002g0064a0001c0001t0002g0066 | 3 | 294 | 0.0102 | -9 | c.159 others(26): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65373903 | TAAGAAAT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0003g0031a0001c0001t0003g0043a0001c0001t0003g0047others(34): Show | 37 | 234 | 0.1581 | -9 | c.179 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 8/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65465533 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01081.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0020a0001c0001t0037others(2): Show | a0001c0001t0014g0049a0001c0001t0020g0066a0001c0001t0037g0012others(3): Show | 6 | 234 | 0.0256 | -9 | c.140 others(30): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65516418 | TGAAGAGG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(52): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(28): Show | a0001c0001t0003g0043a0001c0001t0003g0047a0001c0001t0005g0158others(52): Show | 55 | 234 | 0.2350 | -9 | c.911 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65530997 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0022a0001c0001t0023others(1): Show | a0001c0001t0019g0104a0001c0001t0022g0192a0001c0001t0023g0179others(1): Show | 4 | 234 | 0.0171 | -9 | c.911 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65659319 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0002t0001a0001c0003t0003others(2): Show | a0001c0001t0006g0036a0001c0002t0001g0034a0001c0002t0001g0035others(4): Show | 7 | 234 | 0.0299 | -9 | c.181 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 96829945 | GCGCGCAC others(2): Show |
G | intron_variant | MODIFIER | HG03195.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0024 | a0001c0002t0001g0030a0001c0002t0024g0031 | 2 | 82 | 0.0244 | -9 | c.385 others(28): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 96954773 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01934.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0014a0001c0002t0001a0001c0003t0002others(5): Show | a0001c0001t0014g0045a0001c0002t0001g0074a0001c0003t0002g0036others(6): Show | 9 | 82 | 0.1098 | -9 | c.451 others(28): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97060923 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02572.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0004a0001c0003t0011a0001c0003t0018others(1): Show | a0001c0003t0004g0004a0001c0003t0011g0002a0001c0003t0018g0020others(1): Show | 4 | 82 | 0.0488 | -9 | c.111 others(30): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134800511 | AGACTCCT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0002g0005a0001c0002t0001g0009a0001c0002t0001g0012others(17): Show | 20 | 134 | 0.1493 | -9 | c.58+ others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134824125 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0055a0001c0001t0002g0005a0001c0001t0003g0083others(40): Show | 43 | 134 | 0.3209 | -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 | 134858149 | CCATCATC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02622.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0006a0001c0003t0001others(3): Show | a0001c0001t0003g0083a0001c0002t0006g0072a0001c0003t0001g0039others(3): Show | 6 | 134 | 0.0448 | -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 | 135183021 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG03688.hp1 HG03688.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0003t0005others(1): Show | a0001c0002t0001g0012a0001c0002t0006g0072a0001c0003t0005g0099others(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 | |||||
EPHX2_chr8_27486143_27550564 | 27501324 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(45): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0076a0001c0001t0001g0088others(44): Show | 48 | 374 | 0.1283 | -9 | c.186 others(24): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPM2A_chr6_145620305_145740520 | 145669159 | CTTAGAAA others(2): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0011 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(3): Show | 6 | 320 | 0.0188 | -9 | c.476 others(28): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145735101 | CCGGGGCC others(2): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 NA18963.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0011 | a0002c0004t0005g0049a0002c0004t0005g0051a0002c0004t0005g0052others(3): Show | 6 | 320 | 0.0188 | -9 | c.301 others(22): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143860560 | CGGCGGCG others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG01192.hp1 HG02300.hp1 HG02559.hp1 others(29): Show |
a0015a0024a0025others(24): Show | a0015c0041a0015c0316a0024c0029others(26): Show | a0015c0041t0003a0015c0041t0013a0015c0316t0003others(28): Show | a0015c0041t0003g0140a0015c0041t0013g0097a0015c0316t0003g0227others(28): Show | 32 | 424 | 0.0755 | -9 | c.126 others(20): Show |
p.Thr others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12768/16005 | 12685/15267 | 4229/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862162 | CGGCGGCG others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG02165.hp1 HG02280.hp1 HG02280.hp2 others(40): Show |
a0010a0011a0015others(31): Show | a0010c0015a0010c0050a0011c0007others(35): Show | a0010c0015t0001a0010c0050t0001a0011c0007t0001others(37): Show | a0010c0015t0001g0202a0010c0015t0001g0203a0010c0050t0001g0204others(38): Show | 43 | 424 | 0.1014 | -9 | c.110 others(20): Show |
p.Thr others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11166/16005 | 11083/15267 | 3695/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143862171 | TGGCGGCG others(2): Show |
T | conservative_inframe_deletion | MODERATE | NA18972.hp1 NA18974.hp1 NA19084.hp2 |
a0075a0078a0079 | a0075c0199a0078c0177a0079c0342 | a0075c0199t0003a0078c0177t0003a0079c0342t0003 | a0075c0199t0003g0340a0078c0177t0003g0339a0079c0342t0003g0338 | 3 | 424 | 0.0071 | -9 | c.110 others(20): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11157/16005 | 11074/15267 | 3692/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143878395 | CCCGCACC others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00733.hp1 others(36): Show |
a0003a0009a0023others(28): Show | a0003c0008a0003c0031a0009c0174others(31): Show | a0003c0008t0003a0003c0031t0003a0003c0031t0024others(33): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0031t0003g0369others(34): Show | 39 | 424 | 0.0920 | -9 | c.-46 others(22): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16351095 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0052a0001c0001t0001g0067others(15): Show | 18 | 276 | 0.0652 | -9 | c.*46 others(20): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4151 | chr19 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16393077 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01243.hp2 others(30): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0027a0001c0001t0001g0050a0001c0001t0001g0051others(30): Show | 33 | 276 | 0.1196 | -9 | c.196 others(26): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51357392 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0120a0002c0001t0008g0121a0002c0001t0008g0122others(1): Show | 4 | 152 | 0.0263 | -9 | c.254 others(26): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96794171 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01168.hp1 others(12): Show |
a0007 | a0007c0008a0007c0024 | a0007c0008t0002a0007c0008t0003a0007c0024t0003 | a0007c0008t0002g0048a0007c0008t0003g0008a0007c0008t0003g0020others(8): Show | 15 | 416 | 0.0361 | -9 | c.920 others(24): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 5/18 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96904984 | TTTTTTAA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01123.hp1 others(10): Show |
a0005 | a0005c0006 | a0005c0006t0005a0005c0006t0013 | a0005c0006t0005g0038a0005c0006t0005g0212a0005c0006t0005g0264others(10): Show | 13 | 398 | 0.0327 | -9 | c.201 others(28): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERAP2_chr5_96871500_96924703 | 96921425 | ACTTAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0023a0002c0002t0009g0138 | 3 | 398 | 0.0075 | -9 | c.*38 others(20): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 1723 | chr5 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56103756 | AAAGCCCT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 NA18945.hp1 NA18946.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0019a0003c0004t0008g0020a0003c0004t0008g0157others(3): Show | 8 | 392 | 0.0204 | -9 | c.*17 others(20): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 252 | chr12 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211464973 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01192.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0016a0001c0001t0002g0032a0001c0001t0005g0015others(17): Show | 20 | 56 | 0.3571 | -9 | c.248 others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211518061 | AATTCCTC others(2): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0047a0001c0001t0005g0044a0001c0001t0022g0006 | 3 | 56 | 0.0536 | -9 | c.248 others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211580897 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024a0001c0001t0027 | a0001c0001t0004g0003a0001c0001t0024g0038a0001c0001t0027g0055 | 3 | 56 | 0.0536 | -9 | c.230 others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211701756 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0021a0001c0001t0003g0017a0001c0001t0003g0040others(7): Show | 10 | 56 | 0.1786 | -9 | c.148 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211839152 | AAGGAGGA others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0028 | a0001c0001t0002g0024a0001c0001t0004g0008a0001c0001t0028g0053 | 3 | 56 | 0.0536 | -9 | c.422 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar |