| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PBLD_chr10_68277660_68337928 | 68303055 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(265): Show | 274 | 364 | 0.7528 | -8 | c.84+ others(23): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| PBLD_chr10_68277660_68337928 | 68319053 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG01243.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0042a0001c0001t0001g0059a0001c0001t0001g0115others(6): Show | 9 | 364 | 0.0247 | -8 | c.-59 others(27): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| PBLD_chr10_68277660_68337928 | 68330709 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01106.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(3): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(23): Show | 26 | 364 | 0.0714 | -8 | c.-60 others(25): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| PBOV1_chr6_138210986_138223491 | 138215885 | TGTGAAAG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03209.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000a0001c0001t0004g0000 | 5 | 384 | 0.0130 | -8 | c.*20 others(19): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 100 | chr6 | TogoVar | ||||||
| PBX1_chr1_164554184_164856831 | 164562452 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG03490.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0184a0002c0002t0001g0002 | 2 | 184 | 0.0109 | -8 | c.192 others(23): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164571873 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0056a0001c0001t0009g0026 | 2 | 184 | 0.0109 | -8 | c.265 others(25): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164651930 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0034others(36): Show | 39 | 184 | 0.2120 | -8 | c.265 others(27): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164670093 | ATGAGGAG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp2 HG01496.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0062a0001c0001t0001g0081others(32): Show | 35 | 184 | 0.1902 | -8 | c.265 others(29): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| PBX1_chr1_164554184_164856831 | 164716685 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG02602.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0155a0001c0001t0002g0142a0001c0001t0004g0156 | 3 | 184 | 0.0163 | -8 | c.266 others(27): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164724670 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02976.hp2 NA18968.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0090a0001c0001t0004g0109a0001c0001t0005g0010others(2): Show | 5 | 184 | 0.0272 | -8 | c.266 others(27): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164776899 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01167.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0107a0001c0001t0001g0108others(24): Show | 27 | 184 | 0.1467 | -8 | c.266 others(27): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164786681 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00738.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0082others(32): Show | 35 | 184 | 0.1902 | -8 | c.266 others(25): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX1_chr1_164554184_164856831 | 164834029 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02965.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005a0001c0001t0006g0013a0001c0001t0006g0176others(1): Show | 4 | 184 | 0.0217 | -8 | c.120 others(29): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125791297 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0024a0001c0001t0002g0047a0001c0001t0002g0048others(16): Show | 19 | 294 | 0.0646 | -8 | c.274 others(27): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125792042 | ACACGCAC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01099.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0256a0001c0001t0001g0258others(33): Show | 38 | 294 | 0.1293 | -8 | c.274 others(27): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125899360 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0021a0001c0001t0002g0093a0001c0001t0002g0094others(44): Show | 47 | 294 | 0.1599 | -8 | c.275 others(27): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125970233 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02083.hp2 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0214a0001c0001t0001g0219a0001c0001t0001g0234others(20): Show | 23 | 294 | 0.0782 | -8 | c.*43 others(19): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2857 | chr9 | TogoVar | ||||||
| PBX4_chr19_19556713_19623687 | 19576092 | CATTTATG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0054others(76): Show | 81 | 376 | 0.2154 | -8 | c.194 others(25): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PCARE_chr2_29056695_29079523 | 29058893 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03041.hp2 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(3): Show | a0001c0001t0001g0032a0001c0001t0002g0002a0001c0001t0026g0030others(3): Show | 10 | 464 | 0.0216 | -8 | c.*59 others(19): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 2801 | chr2 | TogoVar | ||||||
| PCBP2_chr12_53447102_53486162 | 53451331 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00738.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0022others(39): Show | 43 | 348 | 0.1236 | -8 | c.-11 others(19): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 770 | chr12 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45667075 | GTTCTTTC others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(88): Show | 91 | 292 | 0.3116 | -8 | c.-27 others(27): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45669799 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0054a0001c0001t0002g0055a0001c0001t0002g0057others(5): Show | 8 | 292 | 0.0274 | -8 | c.-20 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45669801 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0003g0038a0001c0001t0003g0118a0001c0001t0003g0219others(6): Show | 9 | 292 | 0.0308 | -8 | c.-20 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45669803 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02809.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0123a0001c0001t0001g0131a0001c0001t0001g0186others(2): Show | 5 | 292 | 0.0171 | -8 | c.-20 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45669805 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0226a0001c0001t0002g0228a0001c0001t0002g0232others(7): Show | 10 | 292 | 0.0343 | -8 | c.-20 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45761850 | CCACCGCA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225a0001c0001t0002g0241a0001c0001t0002g0252others(3): Show | 6 | 292 | 0.0206 | -8 | c.-12 others(27): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45815203 | GAGTGATG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0223a0001c0001t0002g0226a0001c0001t0002g0227others(53): Show | 56 | 292 | 0.1918 | -8 | c.-12 others(29): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | chr21 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45919830 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0009 | a0001c0001t0003g0263a0001c0001t0004g0002a0001c0002t0009g0215others(1): Show | 4 | 292 | 0.0137 | -8 | c.717 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45919832 | TGTGTGCG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0164a0001c0001t0001g0288a0001c0001t0002g0010others(114): Show | 117 | 292 | 0.4007 | -8 | c.717 others(25): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100179715 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(27): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0071others(27): Show | 30 | 174 | 0.1724 | -8 | c.468 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | chr13 | TogoVar | ||||||
| PCCA_chr13_100084093_100535435 | 100198468 | GTTCATTC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02257.hp2 HG03139.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0002 | a0001c0001t0001g0113a0001c0001t0001g0135a0002c0003t0001g0050others(2): Show | 5 | 174 | 0.0287 | -8 | c.469 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100232351 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0115 | 2 | 174 | 0.0115 | -8 | c.601 others(25): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100298629 | CCCCTCCC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0035a0001c0001t0001g0043others(4): Show | 7 | 174 | 0.0402 | -8 | c.106 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100298672 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0116a0001c0002t0001g0085 | 2 | 174 | 0.0115 | -8 | c.106 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100321591 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | NA18945.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0172 | 2 | 174 | 0.0115 | -8 | c.143 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100348727 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG01346.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0112a0001c0001t0001g0143others(5): Show | 8 | 174 | 0.0460 | -8 | c.164 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100348783 | TCTTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0120 | 2 | 174 | 0.0115 | -8 | c.164 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100348787 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0068a0001c0001t0001g0131others(3): Show | 6 | 174 | 0.0345 | -8 | c.164 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100348811 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0002 | a0001c0001t0002g0066a0003c0005t0002g0018 | 2 | 174 | 0.0115 | -8 | c.164 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0077a0001c0001t0001g0145 | 3 | 174 | 0.0172 | -8 | c.184 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100458294 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0039a0001c0001t0001g0041others(11): Show | 14 | 174 | 0.0805 | -8 | c.189 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100458361 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02055.hp1 others(21): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0036others(21): Show | 24 | 174 | 0.1379 | -8 | c.189 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100458440 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02965.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0089a0001c0001t0003g0074others(1): Show | 4 | 174 | 0.0230 | -8 | c.189 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100524374 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0117a0001c0001t0001g0170a0001c0001t0002g0066others(2): Show | 5 | 174 | 0.0287 | -8 | c.204 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100524983 | GGATAGAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0029a0001c0001t0001g0053a0001c0001t0001g0067others(7): Show | 10 | 174 | 0.0575 | -8 | c.204 others(27): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCB_chr3_136245340_136335169 | 136268087 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0001g0175others(2): Show | 5 | 300 | 0.0167 | -8 | c.543 others(25): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PCDH10_chr4_133144294_133199700 | 133144888 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00673.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0042others(26): Show | 40 | 382 | 0.1047 | -8 | c.-52 others(19): Show |
PCDH10 | ENSG00000138650.9 | transcript | ENST00000264360.7 | protein_coding | 4405 | chr4 | TogoVar | ||||||
| PCDH10_chr4_133144294_133199700 | 133197969 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01123.hp2 HG01884.hp1 others(58): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(14): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(40): Show | 61 | 382 | 0.1597 | -8 | c.*78 others(19): Show |
PCDH10 | ENSG00000138650.9 | transcript | ENST00000264360.7 | protein_coding | 3270 | chr4 | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 91789200 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 154 | 0.0065 | -8 | c.-37 others(27): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 91829436 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03540.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0024 | a0001c0001t0002g0016a0001c0001t0002g0018a0001c0001t0007g0017others(1): Show | 4 | 154 | 0.0260 | -8 | c.-44 others(25): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |