| geneid | 165055 |
|---|---|
| ensemblid | ENSG00000163006.12 |
| hgncid | 26531 |
| symbol | CCDC138 |
| name | coiled-coil domain containing 138 |
| refseq_nuc | NM_144978.3 |
| refseq_prot | NP_659415.1 |
| ensembl_nuc | ENST00000295124.9 |
| ensembl_prot | ENSP00000295124.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 108786771 |
| end | 108876578 |
| strand | + |
| ver | v1.2 |
| region | chr2:108786771-108876578 |
| region5000 | chr2:108781771-108881578 |
| regionname0 | CCDC138_chr2_108786771_108876578 |
| regionname5000 | CCDC138_chr2_108781771_108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108791752
|
G | A | 0.3636 | missense_variant | MODERATE | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/15 | c.344G>A | p.Arg115Lys | 396/2375 | 344/1998 | 115/665 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108876451
|
A | G | 0.9682 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(208): Show | 213 | 220 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 15/15 | c.*198A>G | 198 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108787034
|
C | G | intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | c.93+119C>G | ||||||
|
chr2:108788018
|
C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | c.94-3dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108789330
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0.3636 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.266+364C>T | ||||||
|
chr2:108790913
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0005a0001c0006others(8): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(13): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(126): Show | 130 | 220 | 0.5909 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.267-762A>G | ||||||
|
chr2:108791042
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(208): Show | 213 | 220 | 0.9682 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.267-633G>A | ||||||
|
chr2:108792320
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0005a0001c0012others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(12): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(119): Show | 123 | 220 | 0.5591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.394+518T>C | ||||||
|
chr2:108793193
|
TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0.3636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.395-1336delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108794182
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0004a0002c0002a0003c0003others(5): Show | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0004t0001g0198a0002c0002t0001g0127a0002c0002t0001g0128others(77): Show | 81 | 220 | 0.3682 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.395-358C>T | ||||||
|
chr2:108798816
|
T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00741.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0002g0067a0001c0001t0002g0070a0001c0001t0002g0072others(30): Show | 33 | 220 | 0.1500 | 2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+266_735+267dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108800384
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+1798T>C | ||||||
|
chr2:108800608
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(98): Show | 102 | 220 | 0.4636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2052delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108802606
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-2283C>T | ||||||
|
chr2:108804567
|
A | G | intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-322A>G | ||||||
|
chr2:108809448
|
TTGTG | T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02523.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0031a0001c0001t0002g0062a0001c0005t0001g0112others(12): Show | 15 | 220 | 0.0682 | -4 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-3146_856-3143delTGTG | INFO_REALIGN_3_PRIME | |||||
|
chr2:108811100
|
C | CT | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(7): Show |
a0002a0005a0006 | a0002c0002a0005c0009a0006c0008 | a0002c0002t0001a0005c0009t0001a0006c0008t0001 | a0002c0002t0001g0134a0002c0002t0001g0167a0002c0002t0001g0168others(7): Show | 10 | 220 | 0.0455 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1520dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108815466
|
T | G | intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 9/14 | c.1042-475T>G | ||||||
|
chr2:108820720
|
C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0003others(159): Show | 163 | 220 | 0.7409 | 4 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+4617_1206+4618insAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108831059
|
C | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp1 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0005a0002c0002a0005c0009others(1): Show | a0001c0005t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0005t0001g0112a0001c0005t0001g0113a0001c0005t0001g0114others(24): Show | 27 | 220 | 0.1227 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-8126C>T | ||||||
|
chr2:108831178
|
CA | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp1 others(25): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0002g0083a0001c0005t0001g0112others(25): Show | 28 | 220 | 0.1273 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7998delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108831210
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(185): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(183): Show | 188 | 220 | 0.8546 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7975G>A | ||||||
|
chr2:108831700
|
T | TCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03041.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0006a0002c0002others(2): Show | a0001c0004t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0107others(4): Show | 7 | 220 | 0.0318 | 28 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7475_1207-7448dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC | INFO_REALIGN_3_PRIME | |||||
|
chr2:108831785
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7400C>T | ||||||
|
chr2:108832107
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7078T>G | ||||||
|
chr2:108832344
|
C | CT | intron_variant | MODIFIER | HG01099.hp1 HG01993.hp2 HG02055.hp1 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0029a0001c0004t0001g0014a0002c0002t0001g0134others(9): Show | 12 | 220 | 0.0546 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6821dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108832425
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6760G>A | ||||||
|
chr2:108832796
|
T | C | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6389T>C | ||||||
|
chr2:108832998
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6187C>A | ||||||
|
chr2:108833726
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(187): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0079a0001c0001t0002g0001others(185): Show | 190 | 220 | 0.8636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-5440delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108833889
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-5296G>A | ||||||
|
chr2:108833894
|
A | ATTT | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0001t0002g0025a0001c0001t0002g0060a0001c0004t0001g0107others(10): Show | 13 | 220 | 0.0591 | 3 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-5269_1207-5267dupTTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108834460
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4725A>G | ||||||
|
chr2:108835972
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-3213G>A | ||||||
|
chr2:108837102
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-2083T>C | ||||||
|
chr2:108837653
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1532A>G | ||||||
|
chr2:108837978
|
C | T | intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1207C>T | ||||||
|
chr2:108838583
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-602C>T | ||||||
|
chr2:108839723
|
A | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+422A>T | ||||||
|
chr2:108839907
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+606G>A | ||||||
|
chr2:108841662
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2361C>T | ||||||
|
chr2:108842117
|
T | C | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2816T>C | ||||||
|
chr2:108842992
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+3691G>A | ||||||
|
chr2:108843542
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-3196T>C | ||||||
|
chr2:108843876
|
G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02523.hp1 HG02602.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0029a0001c0004t0001g0103a0001c0004t0001g0104others(8): Show | 11 | 220 | 0.0500 | 12 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-2859_1324-2858insGTGTGTGTTTGT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108844971
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1767A>C | ||||||
|
chr2:108845712
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1026T>C | ||||||
|
chr2:108845817
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-921T>C | ||||||
|
chr2:108846060
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-678A>T | ||||||
|
chr2:108852877
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(196): Show | 201 | 220 | 0.9136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-3917G>T | ||||||
|
chr2:108853528
|
C | CT | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0060others(19): Show | 22 | 220 | 0.1000 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-3252dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108853641
|
C | T | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02523.hp1 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0004t0001g0103others(11): Show | 14 | 220 | 0.0636 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-3153C>T | ||||||
|
chr2:108853976
|
A | AATATATA others(47): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03654.hp2 HG04204.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0005c0009t0001 | a0001c0001t0001g0029a0001c0001t0001g0057a0002c0002t0001g0168others(5): Show | 8 | 220 | 0.0364 | 54 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-2792_1517-2791insAATATATAATATATAATAAATTTATATTATATATAATATATAATAAATTTATAT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108854861
|
G | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-1933G>A | ||||||
|
chr2:108855487
|
T | TA | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0002g0077a0001c0001t0002g0092others(13): Show | 16 | 220 | 0.0727 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-1294dupA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108855774
|
A | G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0004t0001g0103a0001c0004t0001g0104others(10): Show | 13 | 220 | 0.0591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-1020A>G | ||||||
|
chr2:108856215
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-579A>G | ||||||
|
chr2:108856306
|
C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-487_1517-486dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108857066
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0002g0020a0001c0001t0002g0035others(62): Show | 66 | 220 | 0.3000 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+127delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108860011
|
A | G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0004t0001g0103a0001c0004t0001g0104others(10): Show | 13 | 220 | 0.0591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+3041A>G | ||||||
|
chr2:108860867
|
A | G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0004t0001g0103a0001c0004t0001g0104others(10): Show | 13 | 220 | 0.0591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+3897A>G | ||||||
|
chr2:108860935
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0079others(61): Show | 65 | 220 | 0.2955 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+3988dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108862077
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5121dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108862367
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5397A>G | ||||||
|
chr2:108862398
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5428A>G | ||||||
|
chr2:108862540
|
G | A | intron_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5570G>A | ||||||
|
chr2:108862948
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5985delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108864598
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(196): Show | 201 | 220 | 0.9136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7628G>C | ||||||
|
chr2:108864639
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(202): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(200): Show | 205 | 220 | 0.9318 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7669A>T | ||||||
|
chr2:108866233
|
A | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0002c0002t0001g0134others(7): Show | 10 | 220 | 0.0455 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-7218A>T | ||||||
|
chr2:108868222
|
AC | A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-5228delC | ||||||
|
chr2:108869813
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-3638C>T | ||||||
|
chr2:108871095
|
A | G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02523.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0004t0001g0103a0001c0004t0001g0104others(10): Show | 13 | 220 | 0.0591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-2356A>G | ||||||
|
chr2:108871369
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-2082T>C | ||||||
|
chr2:108871370
|
TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(52): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0029a0001c0001t0002g0006a0001c0001t0002g0021others(52): Show | 55 | 220 | 0.2500 | -2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-2057_1694-2056delAA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108872262
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-1189T>C | ||||||
|
chr2:108872539
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-912T>G | ||||||
|
chr2:108872562
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-889C>T | ||||||
|
chr2:108872610
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-841T>C | ||||||
|
chr2:108872653
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-798G>A | ||||||
|
chr2:108872909
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-542A>G | ||||||
|
chr2:108872946
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(110): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(109): Show | 113 | 220 | 0.5136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-505G>C | ||||||
|
chr2:108873648
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1832+59A>G | ||||||
|
chr2:108873737
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02258.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0004t0001g0107others(14): Show | 17 | 220 | 0.0773 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1832+148C>T | ||||||
|
chr2:108874922
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(108): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(107): Show | 111 | 220 | 0.5046 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-1154dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108874988
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-1100A>G | ||||||
|
chr2:108875026
|
TA | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0002c0002t0001g0134a0002c0002t0001g0168others(6): Show | 9 | 220 | 0.0409 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-1055delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108875332
|
AAAAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02602.hp1 HG03654.hp2 others(4): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0006c0008t0001 | a0002c0002t0001g0134a0002c0002t0001g0168a0002c0002t0001g0169others(4): Show | 7 | 220 | 0.0318 | -5 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-752_1833-748delAGAAA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108875820
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02602.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0002c0002t0001g0134others(7): Show | 10 | 220 | 0.0455 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-268C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0002 | 665 | 36 | 20 | 5 | 5 | 1 | 5 | subcellular location copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | c0002 | 1998 | 36 | 20 | 5 | 5 | 1 | 5 | copy fasta | chr2 | 108781771 | 108881578 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | t0001 | 378 | 114 | 60 | 13 | 30 | 2 | 9 | copy fasta | chr2 | 108781771 | 108881578 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | g0207 | 1 | 0 | 0 | 1 | 0 | 0 | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0002c0002 | 36 | 20 | 5 | 5 | 1 | 5 | 1998 | copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0002c0002t0001 | 26 | 17 | 1 | 5 | 0 | 3 | 2375 | copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0002c0002t0001g0207 | 1 | 0 | 0 | 1 | 0 | 0 | chr2 | 108781771 | 108881578 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 108786915 | + | 1 | -0.4763 | -0.4763 | -0.4763 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788032 | + | 2 | 0.9261 | 0.9261 | 0.9261 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788089 | + | 2 | -0.9418 | -0.9418 | -0.9418 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788852 | + | 3 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788966 | + | 3 | -0.9814 | -0.9814 | -0.9814 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108791675 | + | 4 | 0.9755 | 0.9755 | 0.9755 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108791802 | + | 4 | -0.9784 | -0.9784 | -0.9784 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108794540 | + | 5 | 0.9993 | 0.9992 | 0.9993 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108794721 | + | 5 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108798428 | + | 6 | 0.8928 | 0.8928 | 0.8928 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108798586 | + | 6 | -0.9299 | -0.9299 | -0.9299 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108804889 | + | 7 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108805008 | + | 7 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812631 | + | 8 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812708 | + | 8 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812820 | + | 9 | 0.9891 | 0.9891 | 0.9891 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812927 | + | 9 | -0.9916 | -0.9916 | -0.9916 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108815941 | + | 10 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108816105 | + | 10 | -0.9610 | -0.9610 | -0.9610 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108839185 | + | 11 | 0.7921 | 0.7921 | 0.7921 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108839301 | + | 11 | -0.7772 | -0.7772 | -0.7772 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108846738 | + | 12 | 0.8776 | 0.8776 | 0.8776 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108846930 | + | 12 | -0.9820 | -0.9820 | -0.9820 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108856794 | + | 13 | 0.7016 | 0.7016 | 0.7016 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108856970 | + | 13 | -0.9109 | -0.9109 | -0.9109 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108873451 | + | 14 | 0.9897 | 0.9897 | 0.9897 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108873589 | + | 14 | -0.9885 | -0.9885 | -0.9885 | 0.0000 | acceptor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108876088 | + | 15 | 0.9828 | 0.9828 | 0.9828 | 0.0000 | donor | a0002c0002t0001g0207 | NA18988.hp2 | NA18988.hp2 | CCDC138 | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108792320
|
c.394+518T>C | Birth weight0.021 | a0001a0002a0003a0004a0005others(3): Show | a0001c0004a0001c0005a0001c0012a0002c0002a0003c0003others(5): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001a0001c0005t0002a0001c0012t0001others(10): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012a0001c0004t0001g0013a0001c0004t0001g0014others(117): Show | HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 others(118): Show |
Association between birth weight and refractive er others(50): Show |
188,039 European ancestry individuals/ | NR | CCDC138 | rs1724184-T | + | MODIFIER | chr2 | T | C |