Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 285095 |
| ensemblid | ENSG00000216921.9 |
| hgncid | 54200 |
| symbol | FAM240C |
| name | family with sequence similarity 240 member C |
| refseq_nuc | NM_001382368.1 |
| refseq_prot | NP_001369297.1 |
| ensembl_nuc | ENST00000404031.6 |
| ensembl_prot | ENSP00000490626.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 241893988 |
| end | 241900464 |
| strand | - |
| ver | v1.2 |
| region | chr2:241893988-241900464 |
| region5000 | chr2:241888988-241905464 |
| regionname0 | FAM240C_chr2_241893988_241900464 |
| regionname5000 | FAM240C_chr2_241888988_241905464 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 95 | 19 | 6 | 6 | 1 | 4 | 2 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| a0002 | 0/1 | 95 | 18 | 6 | 4 | 3 | 2 | 2 | 3 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 321 | 34 | 10 | 9 | 4 | 6 | 4 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| t0002 | 0/0 | 321 | 2 | 2 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| t0003 | 0/0 | 321 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0006 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 288 | 19 | 6 | 6 | 1 | 4 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| a0002c0002 | 0/1 | 288 | 18 | 6 | 4 | 3 | 2 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 608 | 19 | 6 | 6 | 1 | 4 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| a0002c0002t0001 | 0/1 | 608 | 15 | 4 | 3 | 3 | 2 | 2 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| a0002c0002t0002 | 0/0 | 608 | 2 | 2 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| a0002c0002t0003 | 0/0 | 608 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | copy fasta | chr2 | 241888988 | 241905464 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0006 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| a0002c0002t0003g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0025 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00280 | hp2 | a0002 | c0002 | t0001 | g0007 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0011 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0026 | EUR | FIN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0037 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01070 | hp1 | a0002 | c0002 | t0003 | g0003 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | CLM | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0035 | EUR | IBS | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0034 | EUR | IBS | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG01943 | hp2 | a0002 | c0002 | t0001 | g0019 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0009 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02273 | hp2 | a0002 | c0002 | t0001 | g0017 | AMR | PEL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0028 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0013 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0012 | AFR | GWD | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03041 | hp2 | a0002 | c0002 | t0002 | g0001 | AFR | GWD | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0014 | AFR | ESN | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | MSL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03579 | hp2 | a0002 | c0002 | t0002 | g0002 | AFR | MSL | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0005 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0024 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0033 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | BEB | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0021 | AFR | YRI | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18906 | hp2 | a0002 | c0002 | t0001 | g0015 | AFR | YRI | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18964 | hp1 | a0002 | c0002 | t0001 | g0010 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA18964 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19004 | hp2 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | LWK | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | LWK | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0001 | g0006 | REF | REF | FAM240C_chr2_241888988_241905464 | FAM240C | chr2 | 241888988 | 241905464 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241897212
|
G | C | 1 | a0002 | 18 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(15): Show |
missense_variant | MODERATE | c.135C>G | p.Ile45Met | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/3 | 230/608 | 135/288 | 45/95 | chr2 | 241897212 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241900417
|
C | T | 1 | a0002c0002t0003 | 1 | HG01070.hp1 | 5_prime_UTR_variant | MODIFIER | c.-48G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/3 | 48 | chr2 | 241900417 | |||||
| chr2:241900436
|
C | T | 1 | a0002c0002t0002 | 2 | HG03041.hp2 HG03579.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-67G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/3 | chr2 | 241900436 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:241894384
|
A | G | 20 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(17): Show | 20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-45T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894384 | ||||||
| chr2:241894534
|
C | T | 3 | a0001c0001t0001g0016a0002c0002t0001g0014a0002c0002t0001g0015 | 3 | HG03195.hp1 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.162-195G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894534 | ||||||
| chr2:241894561
|
A | C | 20 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(17): Show | 20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-222T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894561 | ||||||
| chr2:241894573
|
TGG | T | 11 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0026others(8): Show | 11 | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(8): Show |
intron_variant | MODIFIER | c.162-236_162-235del others(2): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894573 | ||||||
| chr2:241894573
|
TGGG | T | 9 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0024others(6): Show | 9 | HG01070.hp1 HG01070.hp2 HG01515.hp2 others(6): Show |
intron_variant | MODIFIER | c.162-237_162-235del others(3): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894573 | ||||||
| chr2:241894763
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-424G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894763 | ||||||
| chr2:241894873
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-534G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894873 | ||||||
| chr2:241894909
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-570G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241894909 | ||||||
| chr2:241895030
|
T | C | 1 | a0002c0002t0001g0018 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.162-691A>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895030 | ||||||
| chr2:241895058
|
G | T | 3 | a0001c0001t0001g0016a0002c0002t0001g0014a0002c0002t0001g0015 | 3 | HG03195.hp1 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.162-719C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895058 | ||||||
| chr2:241895100
|
A | G | 20 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(17): Show | 20 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.162-761T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895100 | ||||||
| chr2:241895160
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-821G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895160 | ||||||
| chr2:241895269
|
C | CT | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-931dupA | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895269 | ||||||
| chr2:241895335
|
C | T | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.162-996G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895335 | ||||||
| chr2:241895438
|
G | A | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-1099C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895438 | ||||||
| chr2:241895459
|
C | T | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.162-1120G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895459 | ||||||
| chr2:241895797
|
G | A | 1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+1389C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895797 | ||||||
| chr2:241895822
|
GC | G | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+1363delG | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895822 | ||||||
| chr2:241895963
|
T | TG | 22 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(19): Show | 22 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(19): Show |
intron_variant | MODIFIER | c.161+1222dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895963 | ||||||
| chr2:241895963
|
T | TGG | 8 | a0001c0001t0001g0020a0001c0001t0001g0031a0001c0001t0001g0032others(5): Show | 8 | HG00323.hp1 HG00733.hp2 HG03579.hp2 others(5): Show |
intron_variant | MODIFIER | c.161+1221_161+1222d others(4): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241895963 | ||||||
| chr2:241896115
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+1071G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896115 | ||||||
| chr2:241896183
|
G | A | 3 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0029 | 3 | HG00280.hp1 HG00323.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.161+1003C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896183 | ||||||
| chr2:241896197
|
A | G | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.161+989T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896197 | ||||||
| chr2:241896254
|
C | T | 16 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(13): Show | 16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.161+932G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896254 | ||||||
| chr2:241896255
|
G | A | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+931C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896255 | ||||||
| chr2:241896350
|
T | A | 2 | a0002c0002t0001g0017a0002c0002t0001g0019 | 2 | HG01943.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.161+836A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896350 | ||||||
| chr2:241896356
|
G | A | 6 | a0001c0001t0001g0016a0002c0002t0001g0014a0002c0002t0001g0015others(3): Show | 6 | HG01943.hp2 HG02273.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.161+830C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896356 | ||||||
| chr2:241896358
|
G | GGAGGAAG others(3): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+818_161+827dup others(10): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896358 | ||||||
| chr2:241896379
|
A | C | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+807T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896379 | ||||||
| chr2:241896391
|
A | C | 9 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(6): Show | 9 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.161+795T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896391 | ||||||
| chr2:241896401
|
T | C | 37 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(34): Show | 37 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(34): Show |
intron_variant | MODIFIER | c.161+785A>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896401 | ||||||
| chr2:241896485
|
G | A | 17 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(14): Show | 17 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(14): Show |
intron_variant | MODIFIER | c.161+701C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896485 | ||||||
| chr2:241896497
|
G | A | 1 | a0002c0002t0001g0009 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.161+689C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896497 | ||||||
| chr2:241896500
|
G | GTTGGGGG others(568): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+685_161+686ins others(575): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896500 | ||||||
| chr2:241896501
|
A | G | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+685T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896501 | ||||||
| chr2:241896501
|
A | T | 7 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+685T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896501 | ||||||
| chr2:241896502
|
A | AGGGGGTG others(528): Show |
1 | a0002c0002t0001g0017 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(535): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896502
|
A | AGGGGGTG others(3639): Show |
1 | a0002c0002t0003g0003 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.161+683_161+684ins others(3646): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896502
|
A | AGGGGGTG others(4367): Show |
1 | a0002c0002t0001g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(4374): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896502
|
A | AGGGGGTG others(4333): Show |
1 | a0002c0002t0001g0006 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.161+683_161+684ins others(4340): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896502
|
A | AGGGGGTG others(4414): Show |
1 | a0002c0002t0001g0007 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.161+683_161+684ins others(4421): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896502
|
A | T | 7 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(4): Show | 7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+684T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896502 | ||||||
| chr2:241896503
|
G | A | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+683C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGGTGT others(7): Show |
2 | a0002c0002t0001g0018a0002c0002t0001g0019 | 2 | HG01943.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+682_161+683ins others(14): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGTGTG others(20): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+682_161+683ins others(27): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGTGTG others(2075): Show |
1 | a0001c0001t0001g0035 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(2082): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGTGTG others(1767): Show |
1 | a0001c0001t0001g0036 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1774): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGTGTG others(1767): Show |
1 | a0001c0001t0001g0037 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1774): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896503
|
G | GGGGTGTG others(1625): Show |
1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+682_161+683ins others(1632): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896503 | ||||||
| chr2:241896512
|
G | GGTGTGGG others(338): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+673_161+674ins others(345): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896512 | ||||||
| chr2:241896516
|
T | A | 1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+670A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896516 | ||||||
| chr2:241896517
|
T | A | 1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+669A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | ||||||
| chr2:241896517
|
T | G | 4 | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0010others(1): Show | 4 | HG00323.hp1 HG02273.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+669A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | ||||||
| chr2:241896517
|
T | TGGGGGTG others(2206): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+668_161+669ins others(2213): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | ||||||
| chr2:241896517
|
T | TGGGGGTG others(751): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+668_161+669ins others(758): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | ||||||
| chr2:241896517
|
T | TGGGGTGT others(242): Show |
1 | a0001c0001t0001g0028 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.161+668_161+669ins others(249): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896517 | ||||||
| chr2:241896530
|
T | TTGGGGGT others(1320): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+655_161+656ins others(1327): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896530 | ||||||
| chr2:241896531
|
T | G | 4 | a0002c0002t0001g0005a0002c0002t0001g0014a0002c0002t0001g0018others(1): Show | 4 | HG01943.hp2 HG03195.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+655A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | ||||||
| chr2:241896531
|
T | TGGGGGTG others(352): Show |
2 | a0002c0002t0001g0008a0002c0002t0001g0009 | 2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+654_161+655ins others(359): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | ||||||
| chr2:241896531
|
T | TGGGGGTG others(2283): Show |
1 | a0002c0002t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+654_161+655ins others(2290): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896531 | ||||||
| chr2:241896540
|
G | T | 2 | a0002c0002t0001g0004a0002c0002t0001g0006 | 2 | HG04184.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.161+646C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896540 | ||||||
| chr2:241896545
|
T | G | 7 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 7 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+641A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896545 | ||||||
| chr2:241896545
|
T | TG | 3 | a0002c0002t0001g0013a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02922.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+640dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896545 | ||||||
| chr2:241896549
|
G | A | 2 | a0002c0002t0001g0008a0002c0002t0001g0009 | 2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+637C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896549 | ||||||
| chr2:241896554
|
T | G | 15 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(12): Show | 15 | HG00323.hp1 HG00733.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.161+632A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896554 | ||||||
| chr2:241896559
|
T | G | 5 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(2): Show | 5 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+627A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896559 | ||||||
| chr2:241896559
|
T | TGGGGTGT others(2031): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+626_161+627ins others(2038): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896559 | ||||||
| chr2:241896563
|
G | A | 1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+623C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896563 | ||||||
| chr2:241896573
|
G | GGGGGTGT others(1173): Show |
1 | a0001c0001t0001g0034 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.161+612_161+613ins others(1180): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | ||||||
| chr2:241896573
|
G | GGGGGTGT others(1157): Show |
1 | a0001c0001t0001g0030 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.161+612_161+613ins others(1164): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | ||||||
| chr2:241896573
|
G | T | 14 | a0001c0001t0001g0028a0001c0001t0001g0035a0001c0001t0001g0036others(11): Show | 14 | HG00280.hp2 HG00733.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.161+613C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896573 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1242): Show |
1 | a0001c0001t0001g0031 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1249): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0024 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0023 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1171): Show |
1 | a0001c0001t0001g0032 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1178): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1213): Show |
1 | a0001c0001t0001g0026 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1220): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1227): Show |
1 | a0001c0001t0001g0027 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1234): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1227): Show |
1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+603_161+604ins others(1234): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1396): Show |
1 | a0001c0001t0001g0029 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1403): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | GGTGTTGG others(1241): Show |
1 | a0001c0001t0001g0022 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.161+603_161+604ins others(1248): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896582
|
G | T | 1 | a0002c0002t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+604C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896582 | ||||||
| chr2:241896586
|
T | TTGGGGTG others(1228): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+599_161+600ins others(1235): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896586 | ||||||
| chr2:241896587
|
T | G | 4 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(1): Show | 4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+599A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896587 | ||||||
| chr2:241896587
|
T | TGGGGTGT others(158): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+598_161+599ins others(165): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896587 | ||||||
| chr2:241896596
|
G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0025 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.161+589_161+590ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896596 | ||||||
| chr2:241896596
|
G | GGTGTTGG others(1199): Show |
1 | a0001c0001t0001g0033 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.161+589_161+590ins others(1206): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896596 | ||||||
| chr2:241896599
|
G | GTTGGGGG others(285): Show |
2 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+586_161+587ins others(292): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896599 | ||||||
| chr2:241896600
|
A | T | 30 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(27): Show | 30 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(27): Show |
intron_variant | MODIFIER | c.161+586T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896600 | ||||||
| chr2:241896601
|
A | AGGGGTGT others(1286): Show |
1 | a0002c0002t0001g0019 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+584_161+585ins others(1293): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | ||||||
| chr2:241896601
|
A | AGGGGTGT others(922): Show |
1 | a0001c0001t0001g0028 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.161+584_161+585ins others(929): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | ||||||
| chr2:241896601
|
A | G | 9 | a0001c0001t0001g0020a0002c0002t0001g0008a0002c0002t0001g0009others(6): Show | 9 | HG00323.hp1 HG02273.hp1 HG02273.hp2 others(6): Show |
intron_variant | MODIFIER | c.161+585T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | ||||||
| chr2:241896601
|
A | T | 25 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(22): Show | 25 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(22): Show |
intron_variant | MODIFIER | c.161+585T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896601 | ||||||
| chr2:241896615
|
G | GGGGGTGT others(847): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+570_161+571ins others(854): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | ||||||
| chr2:241896615
|
G | GGGGGTGT others(3467): Show |
1 | a0002c0002t0001g0009 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.161+570_161+571ins others(3474): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | ||||||
| chr2:241896615
|
G | GGGGGTGT others(3468): Show |
1 | a0002c0002t0001g0008 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.161+570_161+571ins others(3475): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | ||||||
| chr2:241896615
|
G | T | 21 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(18): Show | 21 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(18): Show |
intron_variant | MODIFIER | c.161+571C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896615 | ||||||
| chr2:241896629
|
T | G | 3 | a0001c0001t0001g0020a0002c0002t0001g0005a0002c0002t0003g0003 | 3 | HG01070.hp1 HG03834.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.161+557A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896629 | ||||||
| chr2:241896642
|
A | T | 15 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0033others(12): Show | 15 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.161+544T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896642 | ||||||
| chr2:241896643
|
A | G | 3 | a0001c0001t0001g0016a0002c0002t0001g0005a0002c0002t0001g0017 | 3 | HG02273.hp2 HG03195.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.161+543T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896643 | ||||||
| chr2:241896643
|
A | T | 12 | a0001c0001t0001g0020a0001c0001t0001g0033a0002c0002t0001g0004others(9): Show | 12 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.161+543T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896643 | ||||||
| chr2:241896649
|
G | T | 1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+537C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896649 | ||||||
| chr2:241896656
|
A | T | 26 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(23): Show | 26 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(23): Show |
intron_variant | MODIFIER | c.161+530T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896656 | ||||||
| chr2:241896657
|
A | AGGGGTGT others(145): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+528_161+529ins others(152): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | ||||||
| chr2:241896657
|
A | G | 3 | a0002c0002t0001g0010a0002c0002t0001g0014a0002c0002t0001g0019 | 3 | HG01943.hp2 HG03195.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.161+529T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | ||||||
| chr2:241896657
|
A | T | 23 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(20): Show | 23 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(20): Show |
intron_variant | MODIFIER | c.161+529T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896657 | ||||||
| chr2:241896661
|
G | A | 1 | a0002c0002t0001g0018 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+525C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896661 | ||||||
| chr2:241896663
|
G | T | 4 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(1): Show | 4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+523C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896663 | ||||||
| chr2:241896667
|
G | T | 1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+519C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896667 | ||||||
| chr2:241896671
|
T | G | 4 | a0001c0001t0001g0016a0002c0002t0001g0008a0002c0002t0001g0017others(1): Show | 4 | HG01943.hp2 HG02273.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+515A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896671 | ||||||
| chr2:241896684
|
A | T | 28 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(25): Show | 28 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(25): Show |
intron_variant | MODIFIER | c.161+502T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896684 | ||||||
| chr2:241896685
|
A | G | 10 | a0001c0001t0001g0016a0001c0001t0001g0035a0001c0001t0001g0036others(7): Show | 10 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(7): Show |
intron_variant | MODIFIER | c.161+501T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896685 | ||||||
| chr2:241896685
|
A | T | 19 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(16): Show | 19 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(16): Show |
intron_variant | MODIFIER | c.161+501T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896685 | ||||||
| chr2:241896694
|
G | T | 4 | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(1): Show | 4 | HG00280.hp2 HG01070.hp1 HG04184.hp2 others(1): Show |
intron_variant | MODIFIER | c.161+492C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896694 | ||||||
| chr2:241896698
|
T | A | 2 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+488A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896698 | ||||||
| chr2:241896699
|
T | A | 2 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+487A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896699 | ||||||
| chr2:241896699
|
T | G | 4 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(1): Show | 4 | HG00733.hp1 HG01257.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.161+487A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896699 | ||||||
| chr2:241896708
|
G | T | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+478C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896708 | ||||||
| chr2:241896711
|
GT | G | 14 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(11): Show | 14 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(11): Show |
intron_variant | MODIFIER | c.161+474delA | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896711 | ||||||
| chr2:241896712
|
T | TGGGGGTG others(1701): Show |
1 | a0002c0002t0001g0018 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+473_161+474ins others(1708): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896712 | ||||||
| chr2:241896713
|
TG | T | 10 | a0001c0001t0001g0020a0002c0002t0001g0004a0002c0002t0001g0006others(7): Show | 10 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(7): Show |
intron_variant | MODIFIER | c.161+472delC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896713 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(6): Show |
1 | a0002c0002t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(13): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(694): Show |
1 | a0002c0002t0001g0019 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(701): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(188): Show |
1 | a0002c0002t0001g0012 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(195): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(1429): Show |
1 | a0002c0002t0002g0002 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(1436): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(1319): Show |
1 | a0002c0002t0002g0001 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(1326): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(202): Show |
1 | a0001c0001t0001g0037 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(209): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(216): Show |
1 | a0002c0002t0001g0013 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.161+471_161+472ins others(223): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(215): Show |
1 | a0001c0001t0001g0035 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(222): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | GGGGTGTG others(215): Show |
1 | a0001c0001t0001g0036 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.161+471_161+472ins others(222): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896714
|
G | T | 1 | a0002c0002t0001g0018 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+472C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896714 | ||||||
| chr2:241896723
|
T | G | 28 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(25): Show | 28 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(25): Show |
intron_variant | MODIFIER | c.161+463A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896723 | ||||||
| chr2:241896728
|
T | G | 2 | a0001c0001t0001g0016a0002c0002t0001g0011 | 2 | HG00323.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.161+458A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896728 | ||||||
| chr2:241896728
|
T | TG | 5 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(2): Show | 5 | HG00280.hp2 HG01070.hp1 HG03834.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+457dupC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896728 | ||||||
| chr2:241896741
|
A | G | 1 | a0001c0001t0001g0031 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.161+445T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896741 | ||||||
| chr2:241896741
|
A | T | 19 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(16): Show | 19 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(16): Show |
intron_variant | MODIFIER | c.161+445T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896741 | ||||||
| chr2:241896742
|
A | G | 14 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(11): Show | 14 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(11): Show |
intron_variant | MODIFIER | c.161+444T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896742 | ||||||
| chr2:241896742
|
A | T | 7 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(4): Show | 7 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+444T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896742 | ||||||
| chr2:241896751
|
G | T | 5 | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0017others(2): Show | 5 | HG01943.hp2 HG02273.hp1 HG02273.hp2 others(2): Show |
intron_variant | MODIFIER | c.161+435C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896751 | ||||||
| chr2:241896756
|
T | TGGGATGT others(3602): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+429_161+430ins others(3609): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896756 | ||||||
| chr2:241896770
|
T | G | 2 | a0001c0001t0001g0016a0002c0002t0001g0005 | 2 | HG03195.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.161+416A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896770 | ||||||
| chr2:241896782
|
GA | G | 3 | a0001c0001t0001g0016a0002c0002t0001g0010a0002c0002t0001g0011 | 3 | HG00323.hp1 HG03195.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.161+403delT | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896782 | ||||||
| chr2:241896783
|
A | T | 5 | a0002c0002t0001g0005a0002c0002t0001g0008a0002c0002t0001g0009others(2): Show | 5 | HG01943.hp2 HG02273.hp1 HG03834.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+403T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896783 | ||||||
| chr2:241896784
|
A | T | 8 | a0001c0001t0001g0016a0002c0002t0001g0005a0002c0002t0001g0008others(5): Show | 8 | HG00323.hp1 HG01943.hp2 HG02273.hp1 others(5): Show |
intron_variant | MODIFIER | c.161+402T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896784 | ||||||
| chr2:241896784
|
AG | A | 3 | a0002c0002t0001g0015a0002c0002t0002g0001a0002c0002t0002g0002 | 3 | HG03041.hp2 HG03579.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+401delC | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896784 | ||||||
| chr2:241896785
|
G | GGGGTGTG others(2351): Show |
1 | a0002c0002t0001g0017 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.161+400_161+401ins others(2358): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896785 | ||||||
| chr2:241896785
|
G | T | 2 | a0001c0001t0001g0016a0002c0002t0001g0010 | 2 | HG03195.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.161+401C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896785 | ||||||
| chr2:241896791
|
G | T | 2 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+395C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896791 | ||||||
| chr2:241896799
|
T | G | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+387A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896799 | ||||||
| chr2:241896802
|
GGTGTGGG others(1): Show |
G | 4 | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(1): Show | 4 | HG00280.hp2 HG01070.hp1 HG04184.hp2 others(1): Show |
intron_variant | MODIFIER | c.161+376_161+383del others(8): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896802 | ||||||
| chr2:241896810
|
T | TGAAGGGG others(15): Show |
1 | a0002c0002t0001g0010 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(22): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGAAGGGG others(1538): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(1545): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTGGGGG others(321): Show |
1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(328): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(489): Show |
1 | a0001c0001t0001g0022 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(505): Show |
1 | a0001c0001t0001g0034 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(512): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(349): Show |
1 | a0001c0001t0001g0023 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(356): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(489): Show |
2 | a0001c0001t0001g0032a0001c0001t0001g0033 | 2 | HG00733.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(503): Show |
5 | a0001c0001t0001g0021a0001c0001t0001g0028a0001c0001t0001g0029others(2): Show | 5 | HG01070.hp2 HG01943.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.161+375_161+376ins others(510): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(489): Show |
1 | a0001c0001t0001g0024 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(496): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(475): Show |
2 | a0001c0001t0001g0025a0001c0001t0001g0026 | 2 | HG00280.hp1 HG00323.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(482): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(503): Show |
1 | a0001c0001t0001g0027 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.161+375_161+376ins others(510): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(154): Show |
2 | a0002c0002t0002g0001a0002c0002t0002g0002 | 2 | HG03041.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(161): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(42): Show |
2 | a0002c0002t0001g0008a0002c0002t0001g0009 | 2 | HG02273.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.161+375_161+376ins others(49): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(1539): Show |
1 | a0002c0002t0001g0015 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(1546): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(889): Show |
1 | a0002c0002t0001g0018 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(896): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896810
|
T | TGTTGGGG others(939): Show |
1 | a0002c0002t0001g0019 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.161+375_161+376ins others(946): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896810 | ||||||
| chr2:241896814
|
T | G | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+372A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896814 | ||||||
| chr2:241896820
|
T | TGGTGTGG others(2584): Show |
1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+365_161+366ins others(2591): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896820 | ||||||
| chr2:241896825
|
G | T | 1 | a0001c0001t0001g0021 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.161+361C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896825 | ||||||
| chr2:241896834
|
T | A | 7 | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(4): Show | 7 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+352A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896834 | ||||||
| chr2:241896835
|
T | A | 7 | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(4): Show | 7 | HG00280.hp2 HG01070.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.161+351A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896835 | ||||||
| chr2:241896835
|
T | TGGGGGGT others(2260): Show |
1 | a0002c0002t0001g0005 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.161+350_161+351ins others(2267): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896835 | ||||||
| chr2:241896839
|
G | GTGTGGGT others(21): Show |
1 | a0001c0001t0001g0020 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.161+346_161+347ins others(28): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896839 | ||||||
| chr2:241896839
|
G | T | 2 | a0002c0002t0001g0014a0002c0002t0001g0015 | 2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+347C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896839 | ||||||
| chr2:241896848
|
A | T | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+338T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896848 | ||||||
| chr2:241896849
|
A | T | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+337T>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896849 | ||||||
| chr2:241896860
|
T | G | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.161+326A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896860 | ||||||
| chr2:241896864
|
G | GGGGTGTG others(2603): Show |
1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+321_161+322ins others(2610): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896864 | ||||||
| chr2:241896870
|
G | T | 4 | a0001c0001t0001g0016a0001c0001t0001g0020a0002c0002t0001g0014others(1): Show | 4 | HG03195.hp1 HG03195.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.161+316C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896870 | ||||||
| chr2:241896935
|
C | G | 5 | a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0017others(2): Show | 5 | HG01943.hp2 HG02273.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.161+251G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896935 | ||||||
| chr2:241896944
|
C | A | 2 | a0002c0002t0001g0014a0002c0002t0001g0015 | 2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.161+242G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896944 | ||||||
| chr2:241896990
|
C | G | 15 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(12): Show | 15 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(12): Show |
intron_variant | MODIFIER | c.161+196G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896990 | ||||||
| chr2:241896991
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.161+195C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241896991 | ||||||
| chr2:241897131
|
T | A | 1 | a0002c0002t0001g0011 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.161+55A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241897131 | ||||||
| chr2:241897145
|
C | G | 1 | a0002c0002t0001g0014 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.161+41G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | 241897145 | ||||||
| chr2:241897451
|
C | T | 1 | a0002c0002t0002g0001 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.13-117G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897451 | ||||||
| chr2:241897463
|
T | G | 32 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(29): Show | 32 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(29): Show |
intron_variant | MODIFIER | c.13-129A>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897463 | ||||||
| chr2:241897539
|
G | A | 2 | a0002c0002t0001g0014a0002c0002t0001g0015 | 2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.13-205C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897539 | ||||||
| chr2:241897823
|
C | T | 9 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(6): Show | 9 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.13-489G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897823 | ||||||
| chr2:241897896
|
A | G | 16 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(13): Show | 16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.13-562T>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897896 | ||||||
| chr2:241897974
|
G | A | 16 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(13): Show | 16 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(13): Show |
intron_variant | MODIFIER | c.13-640C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241897974 | ||||||
| chr2:241898145
|
A | C | 9 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(6): Show | 9 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.13-811T>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898145 | ||||||
| chr2:241898409
|
G | A | 9 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(6): Show | 9 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.13-1075C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898409 | ||||||
| chr2:241898544
|
TCAAA | T | 18 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(15): Show | 18 | HG00280.hp1 HG00323.hp2 HG00733.hp2 others(15): Show |
intron_variant | MODIFIER | c.13-1214_13-1211del others(4): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898544 | ||||||
| chr2:241898614
|
GCC | G | 30 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0021others(27): Show | 30 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(27): Show |
intron_variant | MODIFIER | c.13-1282_13-1281del others(2): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898614 | ||||||
| chr2:241898635
|
T | A | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.13-1301A>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898635 | ||||||
| chr2:241898948
|
G | T | 1 | a0002c0002t0001g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.12+1410C>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898948 | ||||||
| chr2:241898952
|
C | T | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.12+1406G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241898952 | ||||||
| chr2:241899054
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+1304G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899054 | ||||||
| chr2:241899088
|
C | A | 1 | a0002c0002t0002g0002 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.12+1270G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899088 | ||||||
| chr2:241899312
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+1046C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899312 | ||||||
| chr2:241899324
|
C | T | 4 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0002g0001others(1): Show | 4 | HG02922.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.12+1034G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899324 | ||||||
| chr2:241899377
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+981G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899377 | ||||||
| chr2:241899552
|
C | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+806G>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899552 | ||||||
| chr2:241899665
|
G | C | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.12+693C>G | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899665 | ||||||
| chr2:241899783
|
C | T | 12 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(9): Show | 12 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.12+575G>A | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899783 | ||||||
| chr2:241899794
|
G | A | 3 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019 | 3 | HG01943.hp2 HG02273.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.12+564C>T | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241899794 | ||||||
| chr2:241900045
|
C | G | 19 | a0001c0001t0001g0016a0002c0002t0001g0004a0002c0002t0001g0005others(16): Show | 19 | HG00280.hp2 HG00323.hp1 HG01070.hp1 others(16): Show |
intron_variant | MODIFIER | c.12+313G>C | FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 1/2 | chr2 | 241900045 |