| 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 | ||
|
chr14:57480703
|
G | A | 0.0083 | stop_gained | HIGH | HG00642.hp2 HG01257.hp1 HG01258.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0042a0003c0005t0001g0179 | 3 | 362 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/6 | c.547C>T | p.Gln183* | 689/3088 | 547/891 | 183/296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:57471406
|
C | T | 0.6961 | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(124): Show | 252 | 362 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 6/6 | c.840G>A | p.Arg280Arg | 982/3088 | 840/891 | 280/296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
chr14:57475788
|
C | CTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(26): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0026others(12): Show | 29 | 362 | 0.0801 | 2 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.656-4200_656-4199dupAA | ||||||
|
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 | ||||||
|
chr14:57479300
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(124): Show | 252 | 362 | 0.6961 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 5/5 | c.655+1295G>A | ||||||
|
chr14:57481662
|
T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | c.394-2A>G | ||||||
|
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 | ||||||
|
chr14:57484183
|
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 | ||||||
|
chr14:57487233
|
G | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 142 | 362 | 0.3923 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+3756C>T | ||||||
|
chr14:57488138
|
G | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(166): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(87): Show | 169 | 362 | 0.4669 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+2851C>A | ||||||
|
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 | ||||||
|
chr14:57490215
|
G | A | intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0179 | 1 | 362 | 0.0028 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+774C>T | ||||||
|
chr14:57490936
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(130): Show | 259 | 362 | 0.7155 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 2/5 | c.306+53A>G | ||||||
|
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 | ||||||
|
chr14:57492181
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(108): Show | 199 | 362 | 0.5497 | 0 | CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 1/5 | c.224-1110A>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC198 | 0/0 | a0003 | 182 | 3 | 0 | 3 | 0 | 0 | 0 | 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 | c0005 | 891 | 3 | 0 | 3 | 0 | 0 | 0 | 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 | g0179 | 1 | 0 | 1 | 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 | a0003c0005 | 3 | 0 | 3 | 0 | 0 | 0 | 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 | a0003c0005t0001 | 3 | 0 | 3 | 0 | 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 | a0003c0005t0001g0179 | 1 | 0 | 1 | 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 | -0.4443 | -0.4443 | -0.4443 | 0.0000 | acceptor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57490989 | - | 2 | -0.3256 | -0.3256 | -0.3256 | 0.0000 | acceptor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57491071 | - | 2 | 0.3238 | 0.3238 | 0.3238 | 0.0000 | donor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57483065 | - | 3 | -0.9824 | -0.9824 | -0.9824 | 0.0000 | acceptor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57483151 | - | 3 | 0.8238 | 0.8238 | 0.8238 | 0.0000 | donor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57481559 | - | 4 | -0.9889 | -0.9889 | -0.9889 | 0.0000 | acceptor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57481660 | - | 4 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | donor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57480595 | - | 5 | -0.7394 | -0.7394 | -0.7394 | 0.0000 | acceptor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57480754 | - | 5 | 0.8248 | 0.8248 | 0.8248 | 0.0000 | donor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | CCDC198 | chr14 | 57464300 | 57498857 |
| 57471590 | - | 6 | 0.9775 | 0.9775 | 0.9775 | 0.0000 | donor | a0003c0005t0001g0179 | HG00642.hp2 | HG00642.hp2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 57480703:splice 57480703:variant goto | c.547C>Tp.Gln183* | 252719 | Benign | CCDC198:55195 | SO:0001587 nonsense |
MedGen:C3661900|MedGen:CN169374 | - | 1 | 1 | 1 | 2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0042a0003c0005t0001g0179 | HG00642.hp2 HG01257.hp1 HG01258.hp2 |
HIGH | chr14 | G | A | 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 |
|---|
