Item | Value |
---|---|
geneid | 653275 |
ensemblid | ENSG00000152093.8 |
hgncid | 33983 |
symbol | CFC1B |
name | cripto, FRL-1, cryptic family 1B |
refseq_nuc | NM_001079530.2 |
refseq_prot | NP_001072998.1 |
ensembl_nuc | ENST00000281882.8 |
ensembl_prot | ENSP00000281882.3 |
mane_status | MANE Select |
chr | chr2 |
start | 130521222 |
end | 130528603 |
strand | + |
ver | v1.2 |
region | chr2:130521222-130528603 |
region5000 | chr2:130516222-130533603 |
regionname0 | CFC1B_chr2_130521222_130528603 |
regionname5000 | CFC1B_chr2_130516222_130533603 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 223 | 6 | 4 | 2 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | MTWRH others(218): Show |
chr2 | 130516222 | 130533603 |
a0002 | 0/0 | 223 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | MTWRH others(218): Show |
chr2 | 130516222 | 130533603 |
a0003 | 0/0 | 223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | MTWRH others(218): Show |
chr2 | 130516222 | 130533603 |
a0004 | 0/0 | 223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | MTWRH others(218): Show |
chr2 | 130516222 | 130533603 |
a0005 | 0/0 | 223 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | MTWRH others(218): Show |
chr2 | 130516222 | 130533603 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 669 | 4 | 2 | 2 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0001c0002 | 0/0 | 669 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0002c0004 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0002c0007 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0002c0008 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0003c0006 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0004c0005 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 | ||
a0005c0003 | 0/0 | 669 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATGAC others(664): Show |
chr2 | 130516222 | 130533603 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1643 | 4 | 2 | 2 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0001c0002t0002 | 0/0 | 1643 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0002c0004t0003 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0002c0007t0004 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0002c0008t0003 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0003c0006t0002 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0004c0005t0006 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
a0005c0003t0005 | 0/0 | 1643 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | ATAGA others(1638): Show |
chr2 | 130516222 | 130533603 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0001c0002t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0002c0004t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0002c0007t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0002c0008t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0003c0006t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0004c0005t0006g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
a0005c0003t0005g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01258 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02451 | hp1 | a0001 | c0002 | t0002 | g0001 | AFR | ACB | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02572 | hp1 | a0001 | c0002 | t0002 | g0001 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02572 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02717 | hp1 | a0004 | c0005 | t0006 | g0006 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02717 | hp2 | a0003 | c0006 | t0002 | g0007 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02886 | hp1 | a0002 | c0008 | t0003 | g0009 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG02886 | hp2 | a0005 | c0003 | t0005 | g0008 | AFR | GWD | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG03139 | hp1 | a0002 | c0007 | t0004 | g0005 | AFR | ESN | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
HG03139 | hp2 | a0002 | c0004 | t0003 | g0004 | AFR | ESN | CFC1B_chr2_130516222_130533603 | CFC1B | chr2 | 130516222 | 130533603 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130521850 | A | C | 1 | a0001 | 6 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(3): Show |
missense_variant | MODERATE | c.61A>C | p.Asn21His | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 2/6 | 324/1643 | 61/672 | 21/223 | chr2 | 130521850 | |||
chr2:130522023 | G | A | 2 | a0001 a0005 |
7 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(4): Show |
missense_variant | MODERATE | c.140G>A | p.Arg47Gln | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/6 | 403/1643 | 140/672 | 47/223 | chr2 | 130522023 | |||
chr2:130522115 | T | C | 3 | a0001 a0002 a0005 |
10 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(7): Show |
missense_variant | MODERATE | c.232T>C | p.Trp78Arg | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/6 | 495/1643 | 232/672 | 78/223 | chr2 | 130522115 | |||
chr2:130527707 | T | C | 1 | a0004 | 1 | HG02717.hp1 | missense_variant | MODERATE | c.484T>C | p.Phe162Leu | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 747/1643 | 484/672 | 162/223 | chr2 | 130527707 | |||
chr2:130527854 | C | T | 1 | a0005 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.631C>T | p.Arg211Trp | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 894/1643 | 631/672 | 211/223 | chr2 | 130527854 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130521852 | T | C | 2 | a0002c0004 a0005c0003 |
2 | HG02886.hp2 HG03139.hp2 |
synonymous_variant | LOW | c.63T>C | p.Asn21Asn | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 2/6 | 326/1643 | 63/672 | 21/223 | chr2 | 130521852 | |||
chr2:130522108 | A | C | 6 | a0001c0001 a0001c0002 a0002c0004 others(3): Show |
10 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(7): Show |
synonymous_variant | LOW | c.225A>C | p.Pro75Pro | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/6 | 488/1643 | 225/672 | 75/223 | chr2 | 130522108 | |||
chr2:130527811 | C | A | 1 | a0001c0001 | 4 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(1): Show |
synonymous_variant | LOW | c.588C>A | p.Pro196Pro | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 851/1643 | 588/672 | 196/223 | chr2 | 130527811 | |||
chr2:130527829 | G | C | 2 | a0002c0004 a0005c0003 |
2 | HG02886.hp2 HG03139.hp2 |
synonymous_variant | LOW | c.606G>C | p.Leu202Leu | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 869/1643 | 606/672 | 202/223 | chr2 | 130527829 | |||
chr2:130527838 | C | G | 1 | a0002c0008 | 1 | HG02886.hp1 | synonymous_variant | LOW | c.615C>G | p.Ser205Ser | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 878/1643 | 615/672 | 205/223 | chr2 | 130527838 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130521303 | A | G | 1 | a0004c0005t0006 | 1 | HG02717.hp1 | 5_prime_UTR_variant | MODIFIER | c.-182A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 1/6 | 182 | chr2 | 130521303 | ||||||
chr2:130528305 | C | G | 1 | a0001c0001t0001 | 4 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*410C>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 410 | chr2 | 130528305 | ||||||
chr2:130528351 | C | T | 1 | a0005c0003t0005 | 1 | HG02886.hp2 | 3_prime_UTR_variant | MODIFIER | c.*456C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 456 | chr2 | 130528351 | ||||||
chr2:130528411 | A | G | 6 | a0001c0001t0001 a0002c0004t0003 a0002c0007t0004 others(3): Show |
9 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*516A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 516 | chr2 | 130528411 | ||||||
chr2:130528458 | T | C | 1 | a0001c0001t0001 | 4 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*563T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 563 | chr2 | 130528458 | ||||||
chr2:130528473 | C | T | 1 | a0002c0007t0004 | 1 | HG03139.hp1 | 3_prime_UTR_variant | MODIFIER | c.*578C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 578 | chr2 | 130528473 | ||||||
chr2:130528474 | A | G | 2 | a0001c0001t0001 a0004c0005t0006 |
5 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*579A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 6/6 | 579 | chr2 | 130528474 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130521612 | T | G | 1 | a0002c0004t0003g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.23+105T>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 1/5 | chr2 | 130521612 | |||||||
chr2:130521788 | C | T | 4 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0002t0002g0001 others(1): Show |
7 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.24-25C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 1/5 | chr2 | 130521788 | |||||||
chr2:130522196 | C | G | 2 | a0002c0008t0003g0009 a0005c0003t0005g0008 |
2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.247+66C>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/5 | chr2 | 130522196 | |||||||
chr2:130522317 | T | C | 1 | a0002c0007t0004g0005 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.247+187T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/5 | chr2 | 130522317 | |||||||
chr2:130522479 | C | T | 3 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0002t0002g0001 |
6 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.248-311C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/5 | chr2 | 130522479 | |||||||
chr2:130522632 | T | C | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.248-158T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/5 | chr2 | 130522632 | |||||||
chr2:130522633 | G | A | 1 | a0002c0004t0003g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.248-157G>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 3/5 | chr2 | 130522633 | |||||||
chr2:130522906 | T | C | 1 | a0005c0003t0005g0008 | 1 | HG02886.hp2 | splice_donor_variant&intron_variant | HIGH | c.362+2T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 4/5 | chr2 | 130522906 | |||||||
chr2:130522995 | G | C | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.362+91G>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 4/5 | chr2 | 130522995 | |||||||
chr2:130523484 | C | G | 1 | a0005c0003t0005g0008 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.472+206C>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130523484 | |||||||
chr2:130523705 | T | C | 1 | a0004c0005t0006g0006 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.472+427T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130523705 | |||||||
chr2:130523820 | T | C | 1 | a0002c0007t0004g0005 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.472+542T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130523820 | |||||||
chr2:130524165 | A | G | 1 | a0005c0003t0005g0008 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.472+887A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130524165 | |||||||
chr2:130524254 | C | G | 3 | a0001c0001t0001g0003 a0002c0007t0004g0005 a0004c0005t0006g0006 |
4 | HG01258.hp1 HG01258.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.472+976C>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130524254 | |||||||
chr2:130525023 | CT | C | 2 | a0001c0001t0001g0003 a0002c0008t0003g0009 |
3 | HG01258.hp1 HG01258.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.472+1758delT | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | 130525023 | ||||||
chr2:130525023 | CTT | C | 4 | a0002c0004t0003g0004 a0002c0007t0004g0005 a0004c0005t0006g0006 others(1): Show |
4 | HG02717.hp1 HG02886.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.472+1757_472+1758d others(4): Show |
CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | 130525023 | ||||||
chr2:130525360 | T | A | 2 | a0002c0008t0003g0009 a0005c0003t0005g0008 |
2 | HG02886.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.472+2082T>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130525360 | |||||||
chr2:130525449 | A | G | 1 | a0002c0007t0004g0005 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.472+2171A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130525449 | |||||||
chr2:130525899 | G | A | 1 | a0002c0007t0004g0005 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.473-1797G>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130525899 | |||||||
chr2:130526406 | A | G | 4 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0002c0004t0003g0004 others(1): Show |
6 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.473-1290A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130526406 | |||||||
chr2:130526601 | T | C | 7 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0002c0004t0003g0004 others(4): Show |
9 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.473-1095T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130526601 | |||||||
chr2:130526678 | G | T | 1 | a0004c0005t0006g0006 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.473-1018G>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130526678 | |||||||
chr2:130526950 | C | G | 2 | a0002c0007t0004g0005 a0002c0008t0003g0009 |
2 | HG02886.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.473-746C>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130526950 | |||||||
chr2:130527167 | C | T | 1 | a0001c0002t0002g0001 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.473-529C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527167 | |||||||
chr2:130527168 | G | A | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.473-528G>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527168 | |||||||
chr2:130527307 | T | C | 3 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0002c0007t0004g0005 |
5 | HG01258.hp1 HG01258.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.473-389T>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527307 | |||||||
chr2:130527423 | G | A | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.473-273G>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527423 | |||||||
chr2:130527434 | G | C | 8 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0002t0002g0001 others(5): Show |
11 | HG01258.hp1 HG01258.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.473-262G>C | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527434 | |||||||
chr2:130527440 | TC | T | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.473-251delC | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | 130527440 | ||||||
chr2:130527563 | C | T | 2 | a0002c0004t0003g0004 a0005c0003t0005g0008 |
2 | HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.473-133C>T | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527563 | |||||||
chr2:130527627 | C | A | 1 | a0005c0003t0005g0008 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.473-69C>A | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527627 | |||||||
chr2:130527671 | A | G | 1 | a0002c0008t0003g0009 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.473-25A>G | CFC1B | ENSG00000152093.8 | transcript | ENST00000281882.8 | protein_coding | 5/5 | chr2 | 130527671 |