Item | Value |
---|---|
geneid | 283820 |
ensemblid | ENSG00000185164.15 |
hgncid | 22652 |
symbol | NOMO2 |
name | NODAL modulator 2 |
refseq_nuc | NM_173614.4 |
refseq_prot | NP_775885.1 |
ensembl_nuc | ENST00000622306.5 |
ensembl_prot | ENSP00000478653.1 |
mane_status | MANE Select |
chr | chr16 |
start | 18499927 |
end | 18562097 |
strand | - |
ver | v1.2 |
region | chr16:18499927-18562097 |
region5000 | chr16:18494927-18567097 |
regionname0 | NOMO2_chr16_18499927_18562097 |
regionname5000 | NOMO2_chr16_18494927_18567097 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 1222 | 11 | 1 | 1 | 1 | 0 | 8 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | MLVGQ others(1217): Show |
chr16 | 18494927 | 18567097 |
a0002 | 0/0 | 1222 | 4 | 0 | 1 | 1 | 0 | 2 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | MLVGQ others(1217): Show |
chr16 | 18494927 | 18567097 |
a0003 | 0/0 | 1222 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | MLVGQ others(1217): Show |
chr16 | 18494927 | 18567097 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 3666 | 9 | 1 | 1 | 1 | 0 | 6 | NOMO2_chr16_18494927_18567097 | NOMO2 | ATGCT others(3661): Show |
chr16 | 18494927 | 18567097 | ||
a0001c0003 | 0/0 | 3666 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | ATGCT others(3661): Show |
chr16 | 18494927 | 18567097 | ||
a0001c0005 | 0/0 | 3666 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | ATGCT others(3661): Show |
chr16 | 18494927 | 18567097 | ||
a0002c0002 | 0/0 | 3666 | 4 | 0 | 1 | 1 | 0 | 2 | NOMO2_chr16_18494927_18567097 | NOMO2 | ATGCT others(3661): Show |
chr16 | 18494927 | 18567097 | ||
a0003c0004 | 0/0 | 3666 | 1 | 1 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | ATGCT others(3661): Show |
chr16 | 18494927 | 18567097 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 4235 | 8 | 0 | 1 | 1 | 0 | 6 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0001c0001t0002 | 0/0 | 4235 | 1 | 1 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0001c0003t0001 | 0/0 | 4235 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0001c0005t0001 | 0/0 | 4235 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0002c0002t0001 | 0/0 | 4235 | 3 | 0 | 1 | 0 | 0 | 2 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0002c0002t0003 | 0/0 | 4235 | 1 | 0 | 0 | 1 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
a0003c0004t0001 | 0/0 | 4235 | 1 | 1 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | AGTGT others(4230): Show |
chr16 | 18494927 | 18567097 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0003t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0001c0005t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0002c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0002c0002t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0002c0002t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0002c0002t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
a0003c0004t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01167 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG01167 | hp2 | a0002 | c0002 | t0001 | g0014 | AMR | PUR | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG02451 | hp1 | a0001 | c0001 | t0002 | g0007 | AFR | ACB | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG02451 | hp2 | a0003 | c0004 | t0001 | g0005 | AFR | ACB | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG02683 | hp1 | a0001 | c0005 | t0001 | g0009 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03239 | hp1 | a0001 | c0003 | t0001 | g0011 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0010 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03492 | hp1 | a0002 | c0002 | t0001 | g0016 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0012 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | STU | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
HG03688 | hp2 | a0002 | c0002 | t0001 | g0002 | SAS | STU | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
NA19001 | hp1 | a0002 | c0002 | t0003 | g0013 | EAS | JPT | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
NA19001 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | NOMO2_chr16_18494927_18567097 | NOMO2 | chr16 | 18494927 | 18567097 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:18517230 | G | A | 1 | a0002 | 4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
missense_variant | MODERATE | c.2716C>T | p.Leu906Phe | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 23/31 | 2773/4235 | 2716/3669 | 906/1222 | chr16 | 18517230 | |||
chr16:18531526 | C | T | 2 | a0002 a0003 |
5 | HG01167.hp2 HG02451.hp2 HG03492.hp1 others(2): Show |
missense_variant | MODERATE | c.1477G>A | p.Val493Met | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 13/31 | 1534/4235 | 1477/3669 | 493/1222 | chr16 | 18531526 | |||
chr16:18531535 | C | T | 2 | a0002 a0003 |
5 | HG01167.hp2 HG02451.hp2 HG03492.hp1 others(2): Show |
missense_variant | MODERATE | c.1468G>A | p.Asp490Asn | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 13/31 | 1525/4235 | 1468/3669 | 490/1222 | chr16 | 18531535 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:18501009 | G | A | 1 | a0001c0005 | 1 | HG02683.hp1 | synonymous_variant | LOW | c.3519C>T | p.Ala1173Ala | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 30/31 | 3576/4235 | 3519/3669 | 1173/1222 | chr16 | 18501009 | |||
chr16:18519629 | G | A | 1 | a0003c0004 | 1 | HG02451.hp2 | synonymous_variant | LOW | c.2388C>T | p.His796His | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 21/31 | 2445/4235 | 2388/3669 | 796/1222 | chr16 | 18519629 | |||
chr16:18538561 | C | T | 1 | a0001c0003 | 1 | HG03239.hp1 | synonymous_variant | LOW | c.1185G>A | p.Pro395Pro | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/31 | 1242/4235 | 1185/3669 | 395/1222 | chr16 | 18538561 | |||
chr16:18543656 | C | G | 1 | a0001c0003 | 1 | HG03239.hp1 | synonymous_variant | LOW | c.696G>C | p.Gly232Gly | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 7/31 | 753/4235 | 696/3669 | 232/1222 | chr16 | 18543656 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:18500061 | C | G | 1 | a0001c0001t0002 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*375G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 31/31 | 375 | chr16 | 18500061 | ||||||
chr16:18500079 | A | G | 1 | a0002c0002t0003 | 1 | NA19001.hp1 | 3_prime_UTR_variant | MODIFIER | c.*357T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 31/31 | 357 | chr16 | 18500079 | ||||||
chr16:18500405 | C | T | 1 | a0001c0001t0002 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*31G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 31/31 | 31 | chr16 | 18500405 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:18501640 | G | A | 1 | a0001c0001t0002g0007 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3445-557C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18501640 | |||||||
chr16:18502797 | G | C | 1 | a0002c0002t0003g0013 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.3445-1714C>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18502797 | |||||||
chr16:18503964 | T | G | 1 | a0001c0005t0001g0009 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3445-2881A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18503964 | |||||||
chr16:18504172 | G | A | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.3444+2701C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18504172 | |||||||
chr16:18505004 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3444+1869T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18505004 | |||||||
chr16:18505080 | G | C | 3 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0003g0013 |
3 | HG01167.hp2 HG03688.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.3444+1793C>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 29/30 | chr16 | 18505080 | |||||||
chr16:18509323 | C | T | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.3223-56G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 27/30 | chr16 | 18509323 | |||||||
chr16:18511724 | G | A | 1 | a0001c0005t0001g0009 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3112-68C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 26/30 | chr16 | 18511724 | |||||||
chr16:18512658 | G | A | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.3111+692C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 26/30 | chr16 | 18512658 | |||||||
chr16:18513115 | T | C | 2 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
2 | HG03239.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.3111+235A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 26/30 | chr16 | 18513115 | |||||||
chr16:18514093 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3027+249G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 25/30 | chr16 | 18514093 | |||||||
chr16:18518174 | A | G | 1 | a0002c0002t0001g0002 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2644-872T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 22/30 | chr16 | 18518174 | |||||||
chr16:18518204 | T | C | 2 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | HG01167.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2644-902A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 22/30 | chr16 | 18518204 | |||||||
chr16:18518724 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2643+505C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 22/30 | chr16 | 18518724 | |||||||
chr16:18520695 | T | C | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2274-16A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 19/30 | chr16 | 18520695 | |||||||
chr16:18521252 | T | C | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.2055-269A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18521252 | |||||||
chr16:18521835 | C | T | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2055-852G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18521835 | |||||||
chr16:18521913 | G | C | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2055-930C>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18521913 | |||||||
chr16:18522503 | C | T | 3 | a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0003g0013 |
3 | HG03492.hp1 HG03688.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.2054+1341G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18522503 | |||||||
chr16:18522609 | A | G | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.2054+1235T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18522609 | |||||||
chr16:18523254 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2054+590T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 18/30 | chr16 | 18523254 | |||||||
chr16:18527105 | T | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1894+432A>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 16/30 | chr16 | 18527105 | |||||||
chr16:18528843 | C | T | 1 | a0003c0004t0001g0005 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1806+658G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528843 | |||||||
chr16:18528861 | G | A | 1 | a0002c0002t0001g0014 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1806+640C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528861 | |||||||
chr16:18528925 | G | A | 5 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 others(2): Show |
5 | HG02451.hp2 HG02683.hp2 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.1806+576C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528925 | |||||||
chr16:18528987 | AAATACAT others(6): Show |
A | 2 | a0001c0001t0001g0006 a0001c0001t0001g0012 |
2 | HG03492.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.1806+501_1806+513d others(15): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528987 | |||||||
chr16:18528987 | AAATACAT others(8): Show |
A | 4 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(1): Show |
4 | HG01167.hp1 HG02683.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1806+499_1806+513d others(17): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528987 | |||||||
chr16:18528987 | AAATACAT others(30): Show |
A | 4 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0003t0001g0011 others(1): Show |
4 | HG02451.hp2 HG02683.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.1806+477_1806+513d others(39): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528987 | |||||||
chr16:18528992 | CATATATA others(5): Show |
C | 3 | a0001c0001t0002g0007 a0002c0002t0001g0002 a0002c0002t0003g0013 |
3 | HG02451.hp1 HG03688.hp2 NA19001.hp1 |
intron_variant | MODIFIER | c.1806+497_1806+508d others(14): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528992 | |||||||
chr16:18528992 | CATATATA others(7): Show |
C | 3 | a0001c0001t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0016 |
3 | HG01167.hp2 HG03492.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.1806+495_1806+508d others(16): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18528992 | |||||||
chr16:18529004 | T | C | 2 | a0001c0001t0001g0006 a0001c0001t0001g0012 |
2 | HG03492.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.1806+497A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18529004 | |||||||
chr16:18529006 | T | C | 4 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(1): Show |
4 | HG01167.hp1 HG02683.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1806+495A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18529006 | |||||||
chr16:18529028 | T | C | 4 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0003t0001g0011 others(1): Show |
4 | HG02451.hp2 HG02683.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.1806+473A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18529028 | |||||||
chr16:18529071 | G | A | 1 | a0001c0005t0001g0009 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1806+430C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18529071 | |||||||
chr16:18529189 | T | C | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1806+312A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 15/30 | chr16 | 18529189 | |||||||
chr16:18529968 | G | T | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1670-331C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 14/30 | chr16 | 18529968 | |||||||
chr16:18531416 | T | C | 1 | a0003c0004t0001g0005 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1537+50A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 13/30 | chr16 | 18531416 | |||||||
chr16:18532175 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1396-568G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 12/30 | chr16 | 18532175 | |||||||
chr16:18532431 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1395+574G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 12/30 | chr16 | 18532431 | |||||||
chr16:18532891 | A | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1395+114T>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 12/30 | chr16 | 18532891 | |||||||
chr16:18533449 | G | C | 7 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0007 others(4): Show |
7 | HG01167.hp2 HG02451.hp1 HG02683.hp2 others(4): Show |
intron_variant | MODIFIER | c.1221-270C>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18533449 | |||||||
chr16:18533839 | G | T | 2 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | HG01167.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1221-660C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18533839 | |||||||
chr16:18534352 | AT | A | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.1221-1174delA | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18534352 | |||||||
chr16:18535279 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2100A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535279 | |||||||
chr16:18535313 | T | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2134A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535313 | |||||||
chr16:18535319 | A | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2140T>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535319 | |||||||
chr16:18535383 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2204C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535383 | |||||||
chr16:18535391 | A | AT | 2 | a0001c0001t0001g0003 a0001c0003t0001g0011 |
2 | HG01167.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1221-2213dupA | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535391 | |||||||
chr16:18535404 | A | AT | 5 | a0001c0003t0001g0011 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03239.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.1221-2226dupA | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535404 | |||||||
chr16:18535496 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2317A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535496 | |||||||
chr16:18535506 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2327C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535506 | |||||||
chr16:18535509 | T | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2330A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535509 | |||||||
chr16:18535610 | C | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2431G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535610 | |||||||
chr16:18535639 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2460C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535639 | |||||||
chr16:18535669 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2490G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535669 | |||||||
chr16:18535670 | C | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2491G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535670 | |||||||
chr16:18535813 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2634G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535813 | |||||||
chr16:18535837 | G | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1221-2658C>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535837 | |||||||
chr16:18535892 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2634T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535892 | |||||||
chr16:18535937 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2589G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535937 | |||||||
chr16:18535941 | A | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2585T>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535941 | |||||||
chr16:18535942 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2584T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18535942 | |||||||
chr16:18536086 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2440T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536086 | |||||||
chr16:18536445 | T | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+2081A>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536445 | |||||||
chr16:18536541 | T | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1985A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536541 | |||||||
chr16:18536548 | C | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1978G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536548 | |||||||
chr16:18536594 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1932T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536594 | |||||||
chr16:18536598 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1928C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536598 | |||||||
chr16:18536688 | A | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1838T>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536688 | |||||||
chr16:18536829 | G | A | 1 | a0001c0001t0002g0007 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1220+1697C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536829 | |||||||
chr16:18536875 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1651G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536875 | |||||||
chr16:18536966 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1560G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18536966 | |||||||
chr16:18537022 | C | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+1504G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18537022 | |||||||
chr16:18537344 | C | G | 3 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0003c0004t0001g0005 |
3 | HG02451.hp2 HG02683.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.1220+1182G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18537344 | |||||||
chr16:18537394 | C | T | 4 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0003t0001g0011 others(1): Show |
4 | HG02451.hp2 HG02683.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.1220+1132G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18537394 | |||||||
chr16:18537637 | G | T | 1 | a0002c0002t0001g0016 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1220+889C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18537637 | |||||||
chr16:18538265 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1220+261T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18538265 | |||||||
chr16:18538389 | C | CAA | 4 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0016 others(1): Show |
4 | HG03492.hp1 HG03654.hp2 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.1220+135_1220+136d others(4): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 11/30 | chr16 | 18538389 | |||||||
chr16:18538717 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1070-41A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 10/30 | chr16 | 18538717 | |||||||
chr16:18539357 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-393G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539357 | |||||||
chr16:18539567 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-603T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539567 | |||||||
chr16:18539626 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-662T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539626 | |||||||
chr16:18539672 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-708C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539672 | |||||||
chr16:18539681 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.964-717G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539681 | |||||||
chr16:18539689 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-725C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539689 | |||||||
chr16:18539710 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-746G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539710 | |||||||
chr16:18539728 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-764G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539728 | |||||||
chr16:18539815 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-851T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539815 | |||||||
chr16:18539858 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-894A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539858 | |||||||
chr16:18539875 | C | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-911G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539875 | |||||||
chr16:18539945 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-981G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539945 | |||||||
chr16:18539952 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-988C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18539952 | |||||||
chr16:18540263 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-1299G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540263 | |||||||
chr16:18540264 | C | T | 6 | a0001c0001t0001g0001 a0001c0003t0001g0011 a0002c0002t0001g0002 others(3): Show |
6 | HG01167.hp2 HG03239.hp1 HG03492.hp1 others(3): Show |
intron_variant | MODIFIER | c.964-1300G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540264 | |||||||
chr16:18540328 | T | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-1364A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540328 | |||||||
chr16:18540408 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.964-1444C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540408 | |||||||
chr16:18540604 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.963+1568T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540604 | |||||||
chr16:18540690 | G | A | 1 | a0002c0002t0001g0016 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.963+1482C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540690 | |||||||
chr16:18540759 | T | C | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.963+1413A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18540759 | |||||||
chr16:18541135 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.963+1037C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541135 | |||||||
chr16:18541291 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.963+881C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541291 | |||||||
chr16:18541364 | A | C | 2 | a0001c0001t0001g0001 a0001c0003t0001g0011 |
2 | HG03239.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.963+808T>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541364 | |||||||
chr16:18541447 | G | T | 3 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0003t0001g0011 |
3 | HG01167.hp1 HG03239.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.963+725C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541447 | |||||||
chr16:18541531 | A | G | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.963+641T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541531 | |||||||
chr16:18541763 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.963+409C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541763 | |||||||
chr16:18541837 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.963+335T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 9/30 | chr16 | 18541837 | |||||||
chr16:18542399 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.874-138G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 8/30 | chr16 | 18542399 | |||||||
chr16:18542480 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.873+114C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 8/30 | chr16 | 18542480 | |||||||
chr16:18542860 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.736-129G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 7/30 | chr16 | 18542860 | |||||||
chr16:18543059 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.736-328G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 7/30 | chr16 | 18543059 | |||||||
chr16:18543549 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.735+68A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 7/30 | chr16 | 18543549 | |||||||
chr16:18543872 | T | G | 2 | a0001c0001t0001g0001 a0001c0003t0001g0011 |
2 | HG03239.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.583-103A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18543872 | |||||||
chr16:18544140 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-371A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544140 | |||||||
chr16:18544395 | C | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-626G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544395 | |||||||
chr16:18544666 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-897T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544666 | |||||||
chr16:18544691 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-922C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544691 | |||||||
chr16:18544836 | G | A | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.583-1067C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544836 | |||||||
chr16:18544868 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1099C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544868 | |||||||
chr16:18544882 | G | T | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1113C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544882 | |||||||
chr16:18544940 | G | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1171C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18544940 | |||||||
chr16:18545026 | C | T | 2 | a0001c0001t0001g0010 a0001c0001t0001g0015 |
2 | HG02683.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.583-1257G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545026 | |||||||
chr16:18545097 | A | AT | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.583-1329dupA | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545097 | |||||||
chr16:18545182 | C | A | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1413G>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545182 | |||||||
chr16:18545389 | A | G | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1620T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545389 | |||||||
chr16:18545398 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1629A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545398 | |||||||
chr16:18545457 | T | C | 1 | a0001c0003t0001g0011 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-1688A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545457 | |||||||
chr16:18545882 | A | G | 7 | a0001c0001t0001g0001 a0001c0001t0002g0007 a0001c0003t0001g0011 others(4): Show |
7 | HG01167.hp2 HG02451.hp1 HG03239.hp1 others(4): Show |
intron_variant | MODIFIER | c.582+1346T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18545882 | |||||||
chr16:18546347 | CTTT | C | 6 | a0001c0001t0001g0001 a0001c0003t0001g0011 a0002c0002t0001g0002 others(3): Show |
6 | HG01167.hp2 HG03239.hp1 HG03492.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+878_582+880del others(3): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 6/30 | chr16 | 18546347 | |||||||
chr16:18548082 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.510-782T>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 5/30 | chr16 | 18548082 | |||||||
chr16:18548404 | T | A | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.510-1104A>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 5/30 | chr16 | 18548404 | |||||||
chr16:18549104 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.509+417C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 5/30 | chr16 | 18549104 | |||||||
chr16:18550116 | C | T | 1 | a0003c0004t0001g0005 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.403-489G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 4/30 | chr16 | 18550116 | |||||||
chr16:18550159 | TA | T | 10 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
10 | HG01167.hp1 HG02451.hp2 HG02683.hp1 others(7): Show |
intron_variant | MODIFIER | c.403-533delT | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 4/30 | chr16 | 18550159 | |||||||
chr16:18552035 | G | A | 2 | a0001c0001t0001g0010 a0001c0003t0001g0011 |
2 | HG03239.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.302-496C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18552035 | |||||||
chr16:18552469 | G | GCA | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-932_302-931dup others(2): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18552469 | |||||||
chr16:18552469 | GCACA | G | 2 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | HG01167.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.302-934_302-931del others(4): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18552469 | |||||||
chr16:18552702 | T | C | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.302-1163A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18552702 | |||||||
chr16:18553000 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.302-1461C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18553000 | |||||||
chr16:18553595 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.301+1212C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18553595 | |||||||
chr16:18553695 | C | G | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.301+1112G>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18553695 | |||||||
chr16:18554630 | G | A | 1 | a0002c0002t0001g0014 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.301+177C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 3/30 | chr16 | 18554630 | |||||||
chr16:18556816 | T | C | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.255+886A>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 2/30 | chr16 | 18556816 | |||||||
chr16:18558037 | C | T | 4 | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG03492.hp1 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.166-246G>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18558037 | |||||||
chr16:18558071 | G | A | 1 | a0001c0001t0001g0008 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.166-280C>T | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18558071 | |||||||
chr16:18558510 | G | T | 5 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0014 others(2): Show |
5 | HG01167.hp2 HG03492.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.166-719C>A | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18558510 | |||||||
chr16:18558679 | T | G | 1 | a0002c0002t0001g0016 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.166-888A>C | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18558679 | |||||||
chr16:18561173 | T | TA | 4 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0003t0001g0011 others(1): Show |
4 | HG02683.hp1 HG03239.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.165+702dupT | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18561173 | |||||||
chr16:18561173 | T | TAA | 4 | a0001c0001t0001g0015 a0002c0002t0001g0014 a0002c0002t0001g0016 others(1): Show |
4 | HG01167.hp2 HG02683.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.165+701_165+702dup others(2): Show |
NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18561173 | |||||||
chr16:18561195 | A | C | 1 | a0001c0001t0001g0001 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.165+681T>G | NOMO2 | ENSG00000185164.15 | transcript | ENST00000622306.5 | protein_coding | 1/30 | chr16 | 18561195 |