| geneid | 2015 |
|---|---|
| ensemblid | ENSG00000174837.15 |
| hgncid | 3336 |
| symbol | ADGRE1 |
| name | adhesion G protein-coupled receptor E1 |
| refseq_nuc | NM_001974.5 |
| refseq_prot | NP_001965.3 |
| ensembl_nuc | ENST00000312053.9 |
| ensembl_prot | ENSP00000311545.3 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 6887579 |
| end | 6940450 |
| strand | + |
| ver | v1.2 |
| region | chr19:6887579-6940450 |
| region5000 | chr19:6882579-6945450 |
| regionname0 | ADGRE1_chr19_6887579_6940450 |
| regionname5000 | ADGRE1_chr19_6882579_6945450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:6897453
|
C | G | 0.5651 | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(188): Show |
a0002a0004a0005others(42): Show | a0002c0002a0004c0004a0005c0005others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(71): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(186): Show | 191 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/21 | c.420C>G | p.Ser140Arg | 450/3112 | 420/2661 | 140/886 | ||
|
chr19:6901880
|
G | A | 0.5000 | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/21 | c.520G>A | p.Asp174Asn | 550/3112 | 520/2661 | 174/886 | ||
|
chr19:6903909
|
A | G | 0.5000 | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 7/21 | c.761A>G | p.Asn254Ser | 791/3112 | 761/2661 | 254/886 | ||
|
chr19:6904126
|
C | T | 0.5000 | missense_variant | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/21 | c.893C>T | p.Ala298Val | 923/3112 | 893/2661 | 298/886 | ||
|
chr19:6913800
|
A | G | 0.6894 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(228): Show | 233 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 11/21 | c.1270A>G | p.Ile424Val | 1300/3112 | 1270/2661 | 424/886 | ||
|
chr19:6919613
|
A | C | 0.7041 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(235): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(234): Show | 238 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | c.1486A>C | p.Lys496Gln | 1516/3112 | 1486/2661 | 496/886 | ||
|
chr19:6919742
|
A | G | 0.7071 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(236): Show |
a0001a0002a0004others(34): Show | a0001c0001a0001c0027a0001c0042others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(235): Show | 239 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/21 | c.1615A>G | p.Ile539Val | 1645/3112 | 1615/2661 | 539/886 | ||
|
chr19:6926367
|
T | C | 0.3698 | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(122): Show |
a0004a0006a0007others(30): Show | a0004c0004a0006c0006a0007c0007others(30): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(55): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(121): Show | 125 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 16/21 | c.1988T>C | p.Met663Thr | 2018/3112 | 1988/2661 | 663/886 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:6940178
|
G | C | 0.6036 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0027a0001c0042others(43): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(199): Show | 204 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 21/21 | c.*149G>C | 149 | |||||
|
chr19:6940273
|
A | T | 0.0503 | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02055.hp1 others(14): Show |
a0003a0004a0006others(11): Show | a0003c0003a0004c0004a0006c0006others(11): Show | a0003c0003t0004a0004c0004t0004a0006c0006t0004others(11): Show | a0003c0003t0004g0313a0004c0004t0004g0114a0006c0006t0004g0299others(14): Show | 17 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 21/21 | c.*244A>T | 244 | |||||
|
chr19:6940368
|
A | G | 0.6036 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0027a0001c0042others(43): Show | a0001c0001t0001a0001c0001t0011a0001c0027t0001others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(199): Show | 204 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 21/21 | c.*339A>G | 339 | |||||
|
chr19:6940380
|
A | C | 0.6124 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0027a0001c0042others(46): Show | a0001c0001t0001a0001c0001t0011a0001c0027t0001others(62): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(202): Show | 207 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 21/21 | c.*351A>C | 351 | |||||
|
chr19:6940398
|
T | C | 0.6095 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0027a0001c0042others(43): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(61): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(201): Show | 206 | 338 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 21/21 | c.*369T>C | 369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:6889273
|
GATA | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02723.hp1 others(7): Show |
a0003a0004a0007others(5): Show | a0003c0003a0004c0004a0007c0007others(5): Show | a0003c0003t0004a0004c0004t0002a0004c0004t0005others(6): Show | a0003c0003t0004g0313a0004c0004t0002g0312a0004c0004t0005g0310others(7): Show | 10 | 338 | 0.0296 | -3 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/20 | c.32-1202_32-1200delAAT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6889687
|
C | CA | intron_variant | MODIFIER | HG00140.hp1 HG01257.hp2 HG01258.hp2 others(47): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0003c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(31): Show | a0001c0001t0001g0075a0001c0001t0001g0078a0001c0001t0001g0079others(46): Show | 50 | 338 | 0.1479 | 1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/20 | c.32-771dupA | INFO_REALIGN_3_PRIME | |||||
|
chr19:6889873
|
T | G | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01361.hp1 others(46): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0002a0003c0003others(25): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(36): Show | a0001c0001t0001g0333a0001c0001t0001g0334a0002c0002t0001g0304others(45): Show | 49 | 338 | 0.1450 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/20 | c.32-608T>G | ||||||
|
chr19:6890421
|
GT | G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01168.hp1 others(71): Show |
a0001a0002a0003others(32): Show | a0001c0001a0002c0002a0003c0003others(32): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0012others(49): Show | a0001c0001t0002g0108a0002c0002t0001g0122a0002c0002t0001g0304others(70): Show | 74 | 338 | 0.2189 | -1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 1/20 | c.32-37delT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6891281
|
C | G | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01261.hp2 others(48): Show |
a0001a0002a0003others(27): Show | a0001c0001a0002c0002a0003c0003others(27): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(38): Show | a0001c0001t0001g0333a0001c0001t0001g0334a0002c0002t0001g0304others(47): Show | 51 | 338 | 0.1509 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 2/20 | c.94+738C>G | ||||||
|
chr19:6891455
|
A | AT | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01884.hp1 others(12): Show |
a0001a0003a0004others(8): Show | a0001c0001a0003c0003a0004c0004others(8): Show | a0001c0001t0001a0003c0003t0004a0004c0004t0002others(11): Show | a0001c0001t0001g0283a0003c0003t0004g0313a0004c0004t0002g0312others(12): Show | 15 | 338 | 0.0444 | 1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 2/20 | c.94+928dupT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6893735
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(63): Show | a0001c0001a0001c0042a0002c0002others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(107): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(328): Show | 333 | 338 | 0.9852 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 2/20 | c.95-2663C>T | ||||||
|
chr19:6895855
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001a0002a0003others(39): Show | a0001c0001a0002c0002a0003c0003others(39): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(62): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(146): Show | 149 | 338 | 0.4408 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 2/20 | c.95-543G>A | ||||||
|
chr19:6896771
|
TCTTC | T | intron_variant | MODIFIER | HG00621.hp2 HG02486.hp2 HG02622.hp2 others(7): Show |
a0001a0007a0014 | a0001c0001a0007c0007a0014c0016 | a0001c0001t0001a0007c0007t0001a0007c0007t0002others(3): Show | a0001c0001t0001g0061a0007c0007t0001g0107a0007c0007t0002g0096others(7): Show | 10 | 338 | 0.0296 | -4 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/20 | c.238+250_238+253delCCTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6896843
|
C | T | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0309 | 1 | 338 | 0.0030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/20 | c.238+302C>T | ||||||
|
chr19:6896930
|
C | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(182): Show |
a0002a0003a0004others(38): Show | a0002c0002a0003c0003a0004c0004others(38): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(67): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(180): Show | 185 | 338 | 0.5473 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/20 | c.239-219C>G | ||||||
|
chr19:6897071
|
C | CTT | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01261.hp2 others(51): Show |
a0002a0004a0006others(20): Show | a0002c0002a0004c0004a0006c0006others(20): Show | a0002c0002t0001a0004c0004t0006a0006c0006t0001others(30): Show | a0002c0002t0001g0148a0004c0004t0006g0153a0006c0006t0001g0191others(50): Show | 54 | 338 | 0.1598 | 2 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 3/20 | c.239-60_239-59dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6897381
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(181): Show |
a0002a0004a0005others(37): Show | a0002c0002a0004c0004a0005c0005others(37): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0012others(65): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(179): Show | 184 | 338 | 0.5444 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 4/20 | c.395-47G>A | ||||||
|
chr19:6897914
|
TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02109.hp1 others(30): Show |
a0003a0006a0007others(10): Show | a0003c0003a0006c0006a0007c0007others(10): Show | a0003c0003t0002a0006c0006t0001a0006c0006t0002others(18): Show | a0003c0003t0002g0320a0006c0006t0001g0193a0006c0006t0001g0194others(29): Show | 33 | 338 | 0.0976 | -8 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.514+409_514+416delTCCTTCCT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6898476
|
G | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(167): Show |
a0002a0004a0005others(32): Show | a0002c0002a0004c0004a0005c0005others(32): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(58): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(165): Show | 170 | 338 | 0.5030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.514+929G>T | ||||||
|
chr19:6900093
|
CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02559.hp1 others(14): Show |
a0002a0007a0014others(5): Show | a0002c0002a0007c0007a0014c0016others(5): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0002others(10): Show | a0002c0002t0001g0122a0007c0007t0001g0107a0007c0007t0002g0096others(14): Show | 17 | 338 | 0.0503 | -2 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-1768_515-1767delAA | INFO_REALIGN_3_PRIME | |||||
|
chr19:6900255
|
G | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp1 others(39): Show |
a0006a0007a0011others(13): Show | a0006c0006a0007c0007a0011c0011others(13): Show | a0006c0006t0002a0006c0006t0004a0006c0006t0005others(24): Show | a0006c0006t0002g0064a0006c0006t0002g0298a0006c0006t0004g0299others(38): Show | 42 | 338 | 0.1243 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-1620G>A | ||||||
|
chr19:6900311
|
CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(86): Show |
a0002a0005a0006others(14): Show | a0002c0002a0005c0005a0006c0006others(14): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(25): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(85): Show | 89 | 338 | 0.2633 | -2 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-1549_515-1548delAA | INFO_REALIGN_3_PRIME | |||||
|
chr19:6900704
|
T | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-1171T>A | ||||||
|
chr19:6900819
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0002a0004a0005others(43): Show | a0002c0002a0004c0004a0005c0005others(43): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(72): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(187): Show | 192 | 338 | 0.5681 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-1056A>G | ||||||
|
chr19:6900944
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(181): Show |
a0002a0004a0005others(36): Show | a0002c0002a0004c0004a0005c0005others(36): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(65): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(179): Show | 184 | 338 | 0.5444 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-931T>C | ||||||
|
chr19:6901231
|
G | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp1 others(39): Show |
a0006a0007a0011others(13): Show | a0006c0006a0007c0007a0011c0011others(13): Show | a0006c0006t0002a0006c0006t0004a0006c0006t0005others(24): Show | a0006c0006t0002g0064a0006c0006t0002g0298a0006c0006t0004g0299others(38): Show | 42 | 338 | 0.1243 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-644G>A | ||||||
|
chr19:6901471
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(173): Show |
a0002a0004a0005others(37): Show | a0002c0002a0004c0004a0005c0005others(37): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(63): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(171): Show | 176 | 338 | 0.5207 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-404G>A | ||||||
|
chr19:6901519
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(173): Show |
a0002a0004a0005others(37): Show | a0002c0002a0004c0004a0005c0005others(37): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(63): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(171): Show | 176 | 338 | 0.5207 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-356A>G | ||||||
|
chr19:6901548
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-327A>G | ||||||
|
chr19:6901704
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 5/20 | c.515-171A>G | ||||||
|
chr19:6902218
|
G | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
a0002a0004a0005others(25): Show | a0002c0002a0004c0004a0005c0005others(25): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(45): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(144): Show | 148 | 338 | 0.4379 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.661+197G>C | ||||||
|
chr19:6902433
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(63): Show | a0001c0001a0001c0027a0001c0042others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(109): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(332): Show | 337 | 338 | 0.9970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.661+412G>T | ||||||
|
chr19:6902573
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(167): Show |
a0002a0004a0005others(32): Show | a0002c0002a0004c0004a0005c0005others(32): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(58): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(165): Show | 170 | 338 | 0.5030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.661+552T>C | ||||||
|
chr19:6902597
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(156): Show |
a0002a0004a0005others(27): Show | a0002c0002a0004c0004a0005c0005others(27): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(52): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(155): Show | 159 | 338 | 0.4704 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.661+576T>C | ||||||
|
chr19:6902692
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
a0002a0004a0005others(25): Show | a0002c0002a0004c0004a0005c0005others(25): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(45): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(144): Show | 148 | 338 | 0.4379 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.661+671C>T | ||||||
|
chr19:6903233
|
C | T | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0309 | 1 | 338 | 0.0030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.662-577C>T | ||||||
|
chr19:6903285
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.662-525T>C | ||||||
|
chr19:6903399
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.662-411A>G | ||||||
|
chr19:6903526
|
C | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 6/20 | c.662-284C>G | ||||||
|
chr19:6904283
|
C | T | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0309 | 1 | 338 | 0.0030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+101C>T | ||||||
|
chr19:6904354
|
T | TATTAATT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 8 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+177_949+184dupATTAATTA | INFO_REALIGN_3_PRIME | |||||
|
chr19:6904377
|
A | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0002a0004a0005others(43): Show | a0002c0002a0004c0004a0005c0005others(43): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(72): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(187): Show | 192 | 338 | 0.5681 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+195A>C | ||||||
|
chr19:6904391
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+209A>G | ||||||
|
chr19:6904424
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+242C>A | ||||||
|
chr19:6904479
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0002a0004a0005others(43): Show | a0002c0002a0004c0004a0005c0005others(43): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(72): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(187): Show | 192 | 338 | 0.5681 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+297C>A | ||||||
|
chr19:6904630
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+448T>C | ||||||
|
chr19:6904699
|
T | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0002a0004a0005others(43): Show | a0002c0002a0004c0004a0005c0005others(43): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(72): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(187): Show | 192 | 338 | 0.5681 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+517T>G | ||||||
|
chr19:6904753
|
G | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+571G>T | ||||||
|
chr19:6904775
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+593G>A | ||||||
|
chr19:6904786
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+604A>G | ||||||
|
chr19:6904801
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+619T>C | ||||||
|
chr19:6904864
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+682C>T | ||||||
|
chr19:6905094
|
G | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.949+912G>C | ||||||
|
chr19:6905360
|
C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(182): Show |
a0002a0004a0005others(39): Show | a0002c0002a0004c0004a0005c0005others(39): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(67): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(180): Show | 185 | 338 | 0.5473 | 1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-1060dupT | INFO_REALIGN_3_PRIME | |||||
|
chr19:6905429
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-1004T>C | ||||||
|
chr19:6905579
|
G | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-854G>C | ||||||
|
chr19:6905586
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-847T>C | ||||||
|
chr19:6905884
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(184): Show |
a0002a0004a0005others(39): Show | a0002c0002a0004c0004a0005c0005others(39): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(67): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(182): Show | 187 | 338 | 0.5533 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-549T>C | ||||||
|
chr19:6905946
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-487T>C | ||||||
|
chr19:6905964
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(189): Show |
a0002a0004a0005others(43): Show | a0002c0002a0004c0004a0005c0005others(43): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(72): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(187): Show | 192 | 338 | 0.5681 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-469A>G | ||||||
|
chr19:6906039
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-394A>G | ||||||
|
chr19:6906228
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-205C>A | ||||||
|
chr19:6906346
|
C | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(188): Show |
a0002a0004a0005others(42): Show | a0002c0002a0004c0004a0005c0005others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(71): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(186): Show | 191 | 338 | 0.5651 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 8/20 | c.950-87C>G | ||||||
|
chr19:6906753
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(158): Show | 163 | 338 | 0.4823 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+232A>G | ||||||
|
chr19:6906819
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+298T>C | ||||||
|
chr19:6906839
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+318G>A | ||||||
|
chr19:6906974
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(166): Show |
a0002a0004a0005others(31): Show | a0002c0002a0004c0004a0005c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(57): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(164): Show | 169 | 338 | 0.5000 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+453G>A | ||||||
|
chr19:6907179
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
a0002a0004a0005others(30): Show | a0002c0002a0004c0004a0005c0005others(30): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(56): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(163): Show | 168 | 338 | 0.4970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+658A>G | ||||||
|
chr19:6907184
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0002a0004a0005others(22): Show | a0002c0002a0004c0004a0005c0005others(22): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(38): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(132): Show | 136 | 338 | 0.4024 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+663C>A | ||||||
|
chr19:6907192
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(188): Show |
a0002a0004a0005others(42): Show | a0002c0002a0004c0004a0005c0005others(42): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(71): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(186): Show | 191 | 338 | 0.5651 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1038+671A>G | ||||||
|
chr19:6908279
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
a0002a0004a0005others(30): Show | a0002c0002a0004c0004a0005c0005others(30): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(56): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(163): Show | 168 | 338 | 0.4970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1039-410C>T | ||||||
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chr19:6908445
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A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
a0002a0004a0005others(30): Show | a0002c0002a0004c0004a0005c0005others(30): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(56): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(163): Show | 168 | 338 | 0.4970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1039-244A>G | ||||||
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chr19:6908546
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G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
a0002a0004a0005others(30): Show | a0002c0002a0004c0004a0005c0005others(30): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(56): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(163): Show | 168 | 338 | 0.4970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 9/20 | c.1039-143G>A | ||||||
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chr19:6908981
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G | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(165): Show |
a0002a0004a0005others(30): Show | a0002c0002a0004c0004a0005c0005others(30): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(56): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(163): Show | 168 | 338 | 0.4970 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1122+209G>A | ||||||
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chr19:6909133
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CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(158): Show |
a0002a0003a0004others(32): Show | a0002c0002a0003c0003a0004c0004others(32): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(58): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(156): Show | 161 | 338 | 0.4763 | -1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1122+375delA | INFO_REALIGN_3_PRIME | |||||
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chr19:6909803
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T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(60): Show | a0001c0001a0001c0027a0001c0042others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(326): Show | 331 | 338 | 0.9793 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1122+1031T>C | ||||||
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chr19:6909924
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A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(60): Show | a0001c0001a0001c0027a0001c0042others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(326): Show | 331 | 338 | 0.9793 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1122+1152A>G | ||||||
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chr19:6910570
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CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(123): Show |
a0002a0004a0005others(20): Show | a0002c0002a0004c0004a0005c0005others(20): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(36): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(122): Show | 126 | 338 | 0.3728 | -1 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1122+1817delT | INFO_REALIGN_3_PRIME | |||||
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chr19:6911789
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A | C | intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0309 | 1 | 338 | 0.0030 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1123-1864A>C | ||||||
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chr19:6911831
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TAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(74): Show |
a0002a0005a0007others(6): Show | a0002c0002a0005c0005a0007c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(15): Show | a0002c0002t0001g0007a0002c0002t0001g0020a0002c0002t0001g0021others(74): Show | 77 | 338 | 0.2278 | -2 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1123-1813_1123-1812delAC | INFO_REALIGN_3_PRIME | |||||
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chr19:6912883
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G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
a0001a0002a0004others(33): Show | a0001c0001a0001c0027a0001c0042others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(228): Show | 233 | 338 | 0.6894 | 0 | ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 10/20 | c.1123-770G>A | ||||||
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chr19:6913130
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T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(51): Show | a0001c0001a0001c0027a0001c0042others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show |