| geneid | 55195 |
|---|---|
| ensemblid | ENSG00000100557.10 |
| hgncid | 20189 |
| symbol | CCDC198 |
| name | coiled-coil domain containing 198 |
| refseq_nuc | NM_018168.4 |
| refseq_prot | NP_060638.2 |
| ensembl_nuc | ENST00000216445.8 |
| ensembl_prot | ENSP00000216445.3 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 57469300 |
| end | 57493857 |
| strand | - |
| ver | v1.2 |
| region | chr14:57469300-57493857 |
| region5000 | chr14:57464300-57498857 |
| regionname0 | CCDC198_chr14_57469300_57493857 |
| regionname5000 | CCDC198_chr14_57464300_57498857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:57471542
|
T | C | 0.8950 | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(166): Show | 324 | 362 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 6/6 | c.704A>G | p.Tyr235Cys | 846/3088 | 704/891 | 235/296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:57469361
|
A | G | 0.8950 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(166): Show | 324 | 362 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 6/6 | c.*1994T>C | 1994 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:57471729
|
AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(326): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(170): Show | 329 | 362 | 0.9088 | -2 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-141_656-140delAT | ||||||
|
chr14:57474238
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-2648A>G | ||||||
|
chr14:57475052
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(170): Show | 327 | 362 | 0.9033 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-3462C>A | ||||||
|
chr14:57475122
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(182): Show | 351 | 362 | 0.9696 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-3532T>C | ||||||
|
chr14:57475123
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(338): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(173): Show | 341 | 362 | 0.9420 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-3533A>G | ||||||
|
chr14:57475268
|
A | ATAAATAA others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 362 | 0.0028 | 12 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-3679_656-3678insCTTATTTATTTA | ||||||
|
chr14:57475788
|
CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(62): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0115a0001c0002t0001g0020a0001c0002t0001g0046others(31): Show | 65 | 362 | 0.1796 | -9 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-4207_656-4199delAAAAAAAAA | ||||||
|
chr14:57476543
|
A | G | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(65): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0155others(36): Show | 68 | 362 | 0.1879 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+4052T>C | ||||||
|
chr14:57477128
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(170): Show | 327 | 362 | 0.9033 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+3467T>C | ||||||
|
chr14:57477316
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+3279A>G | ||||||
|
chr14:57478583
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+2012A>G | ||||||
|
chr14:57478688
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+1907G>A | ||||||
|
chr14:57478971
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(170): Show | 327 | 362 | 0.9033 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+1624C>T | ||||||
|
chr14:57480328
|
G | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00741.hp1 others(64): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0002t0001g0020others(33): Show | 67 | 362 | 0.1851 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+267C>T | ||||||
|
chr14:57482302
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | c.394-642T>C | ||||||
|
chr14:57484042
|
G | T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0046a0001c0002t0001g0049others(2): Show | 7 | 362 | 0.0193 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.307-891C>A | ||||||
|
chr14:57484183
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(328): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(172): Show | 331 | 362 | 0.9144 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.307-1032G>C | ||||||
|
chr14:57485550
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(171): Show | 330 | 362 | 0.9116 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.307-2399T>C | ||||||
|
chr14:57486501
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(293): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(157): Show | 296 | 362 | 0.8177 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.307-3350G>T | ||||||
|
chr14:57486809
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(122): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(65): Show | 125 | 362 | 0.3453 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.307-3658G>A | ||||||
|
chr14:57487407
|
G | A | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0050a0001c0002t0001g0020a0001c0002t0001g0046others(5): Show | 10 | 362 | 0.0276 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+3582C>T | ||||||
|
chr14:57489496
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(350): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(184): Show | 353 | 362 | 0.9751 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+1493T>C | ||||||
|
chr14:57489892
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(350): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(184): Show | 353 | 362 | 0.9751 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+1097G>A | ||||||
|
chr14:57490946
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(169): Show | 328 | 362 | 0.9061 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+43A>T | ||||||
|
chr14:57491570
|
G | A | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0050a0001c0002t0001g0020a0001c0002t0001g0046others(5): Show | 10 | 362 | 0.0276 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.224-499C>T | ||||||
|
chr14:57491612
|
A | G | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0050a0001c0002t0001g0020a0001c0002t0001g0046others(5): Show | 10 | 362 | 0.0276 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.224-541T>C | ||||||
|
chr14:57492259
|
T | C | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0003 | a0001c0001t0001g0050a0001c0002t0001g0020a0001c0002t0001g0046others(5): Show | 10 | 362 | 0.0276 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.224-1188A>G | ||||||
|
chr14:57492842
|
T | C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 362 | 0.0028 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.223+651A>G | ||||||
|
chr14:57493133
|
C | T | intron_variant | MODIFIER | HG01358.hp2 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050a0001c0002t0001g0020a0001c0002t0001g0048others(2): Show | 7 | 362 | 0.0193 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.223+360G>A | ||||||
|
chr14:57493326
|
C | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01071.hp2 others(82): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0054others(45): Show | 85 | 362 | 0.2348 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.223+167G>A | ||||||
|
chr14:57493426
|
C | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01358.hp2 others(49): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0054others(32): Show | 52 | 362 | 0.1437 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.223+67G>C | ||||||
|
chr14:57493434
|
C | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01358.hp2 others(49): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0054others(32): Show | 52 | 362 | 0.1437 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.223+59G>A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/1 | a0001 | 296 | 317 | 57 | 67 | 140 | 14 | 38 | subcellular location copy fasta | chr14 | 57464300 | 57498857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | c0002 | 891 | 68 | 35 | 14 | 8 | 3 | 8 | copy fasta | chr14 | 57464300 | 57498857 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | t0001 | 2198 | 257 | 32 | 55 | 130 | 10 | 30 | copy fasta | chr14 | 57464300 | 57498857 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | g0051 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 57464300 | 57498857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | a0001c0002 | 68 | 35 | 14 | 8 | 3 | 8 | 891 | copy fasta | chr14 | 57464300 | 57498857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | a0001c0002t0001 | 11 | 10 | 0 | 1 | 0 | 0 | 3088 | copy fasta | chr14 | 57464300 | 57498857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | a0001c0002t0001g0051 | 1 | 1 | 0 | 0 | 0 | 0 | chr14 | 57464300 | 57498857 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 57493493 | - | 1 | -0.3730 | -0.3730 | -0.3730 | 0.0000 | acceptor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57490989 | - | 2 | -0.2796 | -0.2796 | -0.2796 | 0.0000 | acceptor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57491071 | - | 2 | 0.2570 | 0.2570 | 0.2570 | 0.0000 | donor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57483065 | - | 3 | -0.9832 | -0.9832 | -0.9832 | 0.0000 | acceptor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57483151 | - | 3 | 0.8247 | 0.8247 | 0.8247 | 0.0000 | donor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57481559 | - | 4 | -0.9853 | -0.9853 | -0.9853 | 0.0000 | acceptor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57481660 | - | 4 | 0.9718 | 0.9718 | 0.9718 | 0.0000 | donor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57480595 | - | 5 | -0.8994 | -0.8994 | -0.8994 | 0.0000 | acceptor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57480754 | - | 5 | 0.9128 | 0.9128 | 0.9128 | 0.0000 | donor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57471590 | - | 6 | 0.9517 | 0.9517 | 0.9517 | 0.0000 | donor | a0001c0002t0001g0051 | HG03209.hp1 | HG03209.hp1 | CCDC198 | chr14 | 57464300 | 57498857 |
| 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 |
|---|
| 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 |
|---|