| geneid | 2046 |
|---|---|
| ensemblid | ENSG00000070886.12 |
| hgncid | 3391 |
| symbol | EPHA8 |
| name | EPH receptor A8 |
| refseq_nuc | NM_020526.5 |
| refseq_prot | NP_065387.1 |
| ensembl_nuc | ENST00000166244.8 |
| ensembl_prot | ENSP00000166244.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 22563489 |
| end | 22603595 |
| strand | + |
| ver | v1.2 |
| region | chr1:22563489-22603595 |
| region5000 | chr1:22558489-22608595 |
| regionname0 | EPHA8_chr1_22563489_22603595 |
| regionname5000 | EPHA8_chr1_22558489_22608595 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563617
|
CGCCCG | C | 0.4269 | start_retained_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(143): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0007others(54): Show | a0000c0007t0010g0158a0001c0001t0002g0011a0001c0001t0002g0070others(135): Show | 146 | 342 | -5 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-5_-1delCGGCC | INFO_REALIGN_3_PRIME |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22593411
|
C | T | 0.3012 | synonymous_variant | LOW | HG00438.hp2 HG00639.hp1 HG00733.hp2 others(100): Show |
a0000a0001a0002others(8): Show | a0000c0041a0000c0042a0001c0002others(19): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0002others(41): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0002g0012others(97): Show | 103 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 6/17 | c.1401C>T | p.Asn467Asn | 1548/5019 | 1401/3018 | 467/1005 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563582
|
A | C | 0.4298 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(144): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(55): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0011others(136): Show | 147 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-54A>C | 54 | |||||
|
chr1:22601772
|
A | G | 0.6784 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
a0000a0001a0002others(14): Show | a0000c0007a0000c0042a0001c0001others(41): Show | a0000c0007t0003a0000c0007t0010a0000c0007t0035others(88): Show | a0000c0007t0003g0197a0000c0007t0010g0158a0000c0007t0035g0006others(214): Show | 232 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*31A>G | 31 | |||||
|
chr1:22601856
|
A | G | 0.4591 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(54): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0098others(142): Show | 157 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*115A>G | 115 | |||||
|
chr1:22602320
|
A | G | 0.4591 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(54): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0098others(142): Show | 157 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*579A>G | 579 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22564916
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(175): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(31): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(73): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 178 | 342 | 0.5205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1187T>C | ||||||
|
chr1:22565472
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1743C>T | ||||||
|
chr1:22567415
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(105): Show |
a0000a0001a0002others(9): Show | a0000c0007a0001c0001a0001c0002others(19): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(49): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(96): Show | 108 | 342 | 0.3158 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1874C>G | ||||||
|
chr1:22567443
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0000a0001a0002others(9): Show | a0000c0007a0001c0001a0001c0002others(16): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(46): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(91): Show | 103 | 342 | 0.3012 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1846C>A | ||||||
|
chr1:22568159
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0000a0001a0002others(7): Show | a0000c0007a0001c0001a0001c0002others(16): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(45): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(92): Show | 104 | 342 | 0.3041 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1130A>C | ||||||
|
chr1:22568301
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(96): Show |
a0000a0001a0002others(7): Show | a0000c0007a0001c0001a0001c0002others(14): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(43): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(87): Show | 99 | 342 | 0.2895 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-988A>G | ||||||
|
chr1:22570330
|
G | GCA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(183): Show |
a0000a0001a0002others(10): Show | a0000c0007a0000c0041a0000c0042others(34): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(77): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(171): Show | 186 | 342 | 0.5439 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+980_159+981dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22570341
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(130): Show | 144 | 342 | 0.4211 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+988T>C | ||||||
|
chr1:22570496
|
A | AATAATAA others(86): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02451.hp1 others(10): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0014others(2): Show | a0001c0001t0008a0001c0002t0002a0003c0014t0015others(2): Show | a0001c0001t0008g0146a0001c0002t0002g0149a0001c0002t0002g0150others(9): Show | 13 | 342 | 0.0380 | 93 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+1182_159+1183insTACTTGAGTTCTTTCATGTCCACGTTCAGCTTCTATGGCTCTGAGGACAGAAGGATAATAATATTAATAATGATGATGATAACGACACCAACA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22572518
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(187): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(36): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(80): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(175): Show | 190 | 342 | 0.5556 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+3165T>C | ||||||
|
chr1:22572954
|
G | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-3263G>A | ||||||
|
chr1:22577855
|
C | CGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(122): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(30): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(57): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(111): Show | 125 | 342 | 0.3655 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+977_823+978insGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577990
|
C | CATGTGTG others(1282): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152a0001c0002t0002g0153a0001c0002t0002g0154 | 3 | 342 | 0.0088 | 1289 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1114_823+1115insGTGCGTGTGTATGTGTGCATGTGTGCGTGAGTGTATGTATGCATGTGTGTGCATGTGCGTAAGTATGTGCATGTGTGTGCATGTGTGCGTGAGTGTATGTGTATGTATGCGTGTGTGTGCATGTGTGCGTGAGTATGTGCATTGAGTGCATGCACATGTGTGCATGAGTATGTATGCGTGTATTCATGTGTGTGCATGTGCGTGAGTGTATGTGCATGTGCATGTATGCGTATGTATGCATGCGTGTGCATGTGTGTGACTATGTATGCATGTGTGTATGTGCATGTGTGTGAGCGTATGTATGCATGTGTGTGCCTGTGTGCGAGTGTACGCATATGTGCGCATGTGTGCGTGAATGTGCATGTGTGCATGTGTGCATTTTTGTATGCATGTGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGAGTGTATATGTGCATGTGTACGTGTGCATGTGTGCGTGGGTGTATGCATGTGCGTGTGCATGAGTGTATGTGTGCGTTTGTGTGCGTGTGCGTGAGTGTACCAATGTGTGTGCATGTGTGTGCATATGTGTGCATGAGTGTATGTGTATGTGCATCTGTGCAGTTGTGTGCATCTGCGTGAGTATGTGCATGTGTGCGTGAGTGTATGTATGCATGTCTATGTATACGTGTGCATGTGTGTATGTGTGCGTGTGTGCATGTGAGTGTGCATGTGTGCATGTGTGCATGAGTGTATGTATGCATGTATGTGTGTGCCTGTGTGCATGTGTATGTGTGCCTGTGTGTGTGCCTGTGTGCATGTGCGTGAGTGTATGTGCGTGCGTGTGTGTGTGCAATGTGCGTGTGCATGTGTGTGAGTGTATGCATGTGTGCGTGCACATGTGTGCGAGTGTATGTGTGCATGTGTGCATGAGTGTTCATGTGTGTGCATGTGCATGAGTGTATATATGCGTGAGTGTATGCATGTGTGCGTGTGTGCATGTATGTGCATGTGTGCGTGAGTGTACGCATGTGTGCATGAATGTGTGCATGTGTGCATTTTTGTATGCATGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGTTTGTGTGCATGTGTATGTGTGCATGTGTGCGTGAGTGTATGCATGTGTGTGCATGTGCCAGTGTAGTGTGCTTGTGTGTGCATGTGTGCATGAGTGTGTGTGCATGTGTATGTGTGCATATGTATGCATGTGCATGTGTGCATCTGTGTGTGTGCATGTGTGTGCATGTGTGCGTATGTATGCATGTGTGCGTGAATGTATGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578143
|
T | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152a0001c0002t0002g0153 | 2 | 342 | 0.0059 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1263T>C | ||||||
|
chr1:22578219
|
AGTGTGCA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(3): Show | 6 | 342 | 0.0175 | -8 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1345_823+1352delCATGTGTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578242
|
ATG | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00738.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0036others(2): Show | a0001c0001t0001g0202a0001c0001t0007g0108a0001c0001t0007g0115others(13): Show | 16 | 342 | 0.0468 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1370_823+1371delGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578358
|
G | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1478G>A | ||||||
|
chr1:22578386
|
A | C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1506A>C | ||||||
|
chr1:22578645
|
ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(43): Show |
a0000a0001a0002others(2): Show | a0000c0007a0001c0001a0001c0002others(5): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0010others(22): Show | a0000c0007t0010g0158a0001c0001t0002g0070a0001c0001t0010g0168others(41): Show | 46 | 342 | 0.1345 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1772_823+1773delTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578697
|
C | CTG | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp2 others(45): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0008others(16): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0008g0006others(40): Show | 48 | 342 | 0.1404 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1825_823+1826dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578863
|
A | G | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1983A>G | ||||||
|
chr1:22578870
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(113): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(29): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(56): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(105): Show | 116 | 342 | 0.3392 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1990C>T | ||||||
|
chr1:22578976
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(67): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(127): Show | 141 | 342 | 0.4123 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2096T>C | ||||||
|
chr1:22579754
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2874A>C | ||||||
|
chr1:22580989
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+4109A>G | ||||||
|
chr1:22582039
|
C | T | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0039 | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(4): Show | 7 | 342 | 0.0205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-4441C>T | ||||||
|
chr1:22582057
|
C | T | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02451.hp1 others(20): Show |
a0000a0001a0003others(1): Show | a0000c0007a0001c0001a0001c0002others(2): Show | a0000c0007t0035a0001c0001t0008a0001c0001t0010others(10): Show | a0000c0007t0035g0006a0001c0001t0008g0006a0001c0001t0008g0301others(19): Show | 23 | 342 | 0.0673 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-4423C>T | ||||||
|
chr1:22582228
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-4252G>A | ||||||
|
chr1:22582525
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-3953delA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22583224
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-3256A>G | ||||||
|
chr1:22583682
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(72): Show |
a0000a0001a0002others(6): Show | a0000c0007a0000c0041a0000c0042others(21): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(39): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(69): Show | 75 | 342 | 0.2193 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2798T>C | ||||||
|
chr1:22583733
|
C | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(51): Show |
a0000a0001a0002others(5): Show | a0000c0041a0000c0042a0001c0001others(17): Show | a0000c0041t0001a0000c0042t0003a0001c0001t0008others(26): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0001t0008g0146others(49): Show | 54 | 342 | 0.1579 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2747C>A | ||||||
|
chr1:22584670
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(134): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(30): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(67): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(123): Show | 137 | 342 | 0.4006 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1810A>G | ||||||
|
chr1:22585050
|
T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02723.hp1 others(6): Show |
a0001a0016 | a0001c0001a0001c0002a0016c0030 | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0009g0062a0001c0002t0002g0149a0001c0002t0002g0150others(6): Show | 9 | 342 | 0.0263 | 10 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1429_824-1428insTGTGTGTGCG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22586326
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(307): Show | 338 | 342 | 0.9883 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-154T>C | ||||||
|
chr1:22591066
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG01070.hp2 others(41): Show |
a0001a0005a0015others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0007a0001c0001t0009a0001c0002t0002others(10): Show | a0001c0001t0007g0135a0001c0001t0007g0136a0001c0001t0007g0137others(40): Show | 44 | 342 | 0.1287 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1860T>C | ||||||
|
chr1:22591235
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(55): Show |
a0001a0005a0015others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0007a0001c0001t0009a0001c0002t0002others(13): Show | a0001c0001t0007g0135a0001c0001t0007g0136a0001c0001t0007g0137others(55): Show | 58 | 342 | 0.1696 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+2029T>A | ||||||
|
chr1:22591388
|
A | AT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(17): Show | a0001c0001t0001g0252a0001c0001t0007g0135a0001c0001t0007g0136others(54): Show | 58 | 342 | 0.1696 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-1925dupT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22595010
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(172): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(61): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(159): Show | 175 | 342 | 0.5117 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/16 | c.1604-220T>C | ||||||
|
chr1:22595533
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(171): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(60): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(158): Show | 174 | 342 | 0.5088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1697+210T>G | ||||||
|
chr1:22596053
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(135): Show |
a0000a0001a0002others(8): Show | a0000c0007a0001c0001a0001c0002others(21): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(46): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0003g0021others(125): Show | 138 | 342 | 0.4035 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1698-53G>A | ||||||
|
chr1:22596067
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(201): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(37): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(78): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(187): Show | 204 | 342 | 0.5965 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1698-39G>A | ||||||
|
chr1:22596307
|
G | A | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01070.hp2 others(46): Show |
a0001a0005a0015others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0009g0257a0001c0002t0002g0149a0001c0002t0002g0150others(45): Show | 49 | 342 | 0.1433 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1765+134G>A | ||||||
|
chr1:22596536
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(168): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(59): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(155): Show | 171 | 342 | 0.5000 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1765+363A>G | ||||||
|
chr1:22597925
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(58): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0009a0001c0001t0010a0001c0002t0002others(17): Show | a0001c0001t0009g0257a0001c0001t0010g0168a0001c0002t0002g0149others(56): Show | 61 | 342 | 0.1784 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 11/16 | c.2116+64T>C | ||||||
|
chr1:22598043
|
GT | G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00738.hp2 others(55): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0001t0009g0257a0001c0002t0002g0012a0001c0002t0002g0149others(52): Show | 58 | 342 | 0.1696 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 11/16 | c.2117-105delT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599120
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(99): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(30): Show | a0001c0001t0009g0257a0001c0002t0002g0012a0001c0002t0002g0149others(92): Show | 102 | 342 | 0.2983 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+73C>A | ||||||
|
chr1:22599528
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(98): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(39): Show | a0001c0001t0002g0098a0001c0001t0009g0257a0001c0001t0024g0162others(93): Show | 101 | 342 | 0.2953 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+481G>A | ||||||
|
chr1:22599622
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(120): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0002a0001c0008others(20): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(44): Show | a0001c0001t0002g0098a0001c0001t0009g0257a0001c0001t0024g0162others(111): Show | 123 | 342 | 0.3597 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+575A>G | ||||||
|
chr1:22599637
|
GGGAGGGA others(90): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(42): Show |
a0001a0005a0015others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0001t0009g0257a0001c0002t0002g0149a0001c0002t0002g0150others(41): Show | 45 | 342 | 0.1316 | -97 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+602_2388+698delAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGGAGGGAGGGAAGGAAGGAGGGAGGGA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599827
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(42): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(94): Show | a0000c0007t0001g0218a0000c0007t0001g0269a0000c0007t0010g0158others(286): Show | 315 | 342 | 0.9211 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+781dupA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599922
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(310): Show | 341 | 342 | 0.9971 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-739G>A | ||||||
|
chr1:22600067
|
TGGAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02615.hp2 others(9): Show |
a0001a0005 | a0001c0002a0005c0019 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0002g0149a0001c0002t0002g0150a0001c0002t0002g0151others(9): Show | 12 | 342 | 0.0351 | -4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-588_2389-585delGAGG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22600821
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(202): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(38): Show | a0000c0007t0001a0000c0007t0035a0000c0041t0001others(80): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0000c0041t0001g0031others(188): Show | 205 | 342 | 0.5994 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 14/16 | c.2538+11A>G | ||||||
|
chr1:22600833
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(179): Show |
a0000a0001a0002others(12): Show | a0000c0007a0001c0001a0001c0002others(31): Show | a0000c0007t0001a0000c0007t0035a0001c0001t0002others(68): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0001c0001t0002g0011others(165): Show | 182 | 342 | 0.5322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 14/16 | c.2538+23T>G |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 1/0 | a0001 | 1005 | 265 | 67 | 62 | 89 | 12 | 34 | subcellular location copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | c0002 | 3018 | 58 | 21 | 19 | 7 | 1 | 10 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | t0002 | 1997 | 45 | 18 | 9 | 12 | 1 | 5 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | g0153 | 1 | 1 | 0 | 0 | 0 | 0 | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0002 | 58 | 21 | 19 | 7 | 1 | 10 | 3018 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0002t0002 | 7 | 7 | 0 | 0 | 0 | 0 | 5014 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0002t0002g0153 | 1 | 1 | 0 | 0 | 0 | 0 | chr1 | 22558489 | 22608595 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 22563729 | + | 1 | -0.7977 | -0.7976 | -0.7977 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569289 | + | 2 | 0.8976 | 0.8976 | 0.8976 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569353 | + | 2 | -0.9319 | -0.9319 | -0.9319 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576217 | + | 3 | 0.9654 | 0.9654 | 0.9654 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576880 | + | 3 | -0.7437 | -0.7437 | -0.7437 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586480 | + | 4 | 0.9761 | 0.9761 | 0.9761 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586635 | + | 4 | -0.9771 | -0.9771 | -0.9771 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22588871 | + | 5 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22589206 | + | 5 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593326 | + | 6 | 0.9782 | 0.9781 | 0.9782 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593450 | + | 6 | -0.9951 | -0.9951 | -0.9951 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593524 | + | 7 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593686 | + | 7 | -0.9861 | -0.9861 | -0.9861 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595230 | + | 8 | 0.9954 | 0.9953 | 0.9954 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595323 | + | 8 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596106 | + | 9 | 0.9835 | 0.9835 | 0.9835 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596173 | + | 9 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597312 | + | 10 | 0.9857 | 0.9857 | 0.9857 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597476 | + | 10 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597676 | + | 11 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597861 | + | 11 | -0.9924 | -0.9924 | -0.9924 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598151 | + | 12 | 0.8224 | 0.8224 | 0.8224 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598212 | + | 12 | -0.9852 | -0.9852 | -0.9852 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598838 | + | 13 | 0.9690 | 0.9690 | 0.9690 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22599047 | + | 13 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600661 | + | 14 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600810 | + | 14 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600898 | + | 15 | 0.9862 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601088 | + | 15 | -0.9348 | -0.9348 | -0.9348 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601300 | + | 16 | 0.9873 | 0.9873 | 0.9873 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601473 | + | 16 | -0.9836 | -0.9836 | -0.9836 | 0.0000 | acceptor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601627 | + | 17 | 0.9014 | 0.9013 | 0.9014 | 0.0000 | donor | a0001c0002t0002g0153 | HG02897.hp1 | HG02897.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 22600821:splice 22600821:variant goto | c.2538+11A>G | 1266865 | Benign | EPHA8:2046 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 16 | 41 | 83 | 191 | a0000a0001a0002a0003a0004others(11): Show | a0000c0007a0000c0041a0000c0042a0001c0001a0001c0002others(36): Show | a0000c0007t0001a0000c0007t0035a0000c0041t0001a0000c0042t0003a0001c0001t0001others(78): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106a0001c0001t0001g0183others(186): Show | HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp2 others(200): Show |
MODIFIER | chr1 | A | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22596053
|
c.1698-53G>A | Serum levels of protein C1QC0.421977 | a0000a0001a0002a0003a0005others(6): Show | a0000c0007a0001c0001a0001c0002a0001c0009a0001c0010others(19): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003a0001c0001t0008a0001c0001t0009others(44): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0003g0021a0001c0001t0003g0051a0001c0001t0003g0270others(123): Show | HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 others(133): Show |
A genome-wide association study of serum proteins others(41): Show |
5,368 Icelandic ancestry individuals/ | EPHA8 | rs209692-A | + | MODIFIER | chr1 | G | A |