Item | Value |
---|---|
geneid | 23384 |
ensemblid | ENSG00000100014.20 |
hgncid | 29022 |
symbol | SPECC1L |
name | sperm antigen with calponin homology and coiled-coil domains 1 like |
refseq_nuc | NM_015330.6 |
refseq_prot | NP_056145.5 |
ensembl_nuc | ENST00000314328.14 |
ensembl_prot | ENSP00000325785.8 |
mane_status | MANE Select |
chr | chr22 |
start | 24270831 |
end | 24417738 |
strand | + |
ver | v1.2 |
region | chr22:24270831-24417738 |
region5000 | chr22:24265831-24422738 |
regionname0 | SPECC1L_chr22_24270831_24417738 |
regionname5000 | SPECC1L_chr22_24265831_24422738 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 1117 | 311 | 73 | 50 | 148 | 10 | 29 | 116 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0002 | 0/0 | 1117 | 7 | 0 | 0 | 7 | 0 | 0 | 5 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0003 | 0/0 | 1117 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0004 | 0/0 | 1117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0005 | 0/0 | 1117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0006 | 0/0 | 1117 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0007 | 0/0 | 1117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0008 | 0/0 | 1117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
a0009 | 0/1 | 1117 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | MKKAS others(1112): Show |
chr22 | 24265831 | 24422738 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 3351 | 243 | 64 | 36 | 113 | 7 | 22 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0001c0002 | 0/0 | 3351 | 64 | 6 | 13 | 35 | 3 | 7 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0001c0004 | 0/0 | 3351 | 2 | 2 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0001c0008 | 0/0 | 3351 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0001c0009 | 0/0 | 3351 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0002c0003 | 0/0 | 3351 | 7 | 0 | 0 | 7 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0003c0005 | 0/0 | 3351 | 2 | 0 | 0 | 2 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0004c0012 | 0/0 | 3351 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0005c0007 | 0/0 | 3351 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0006c0006 | 0/0 | 3351 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0007c0011 | 0/0 | 3351 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0008c0010 | 0/0 | 3351 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 | ||
a0009c0013 | 0/1 | 3351 | 1 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | ATGAA others(3346): Show |
chr22 | 24265831 | 24422738 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 6763 | 91 | 14 | 18 | 46 | 4 | 8 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0002 | 0/0 | 6763 | 18 | 15 | 1 | 2 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0003 | 0/0 | 6763 | 46 | 1 | 11 | 28 | 2 | 4 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0004 | 0/0 | 6763 | 21 | 0 | 0 | 18 | 0 | 3 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0005 | 0/0 | 6763 | 8 | 6 | 2 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0006 | 0/0 | 6763 | 9 | 0 | 0 | 9 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0007 | 0/0 | 6761 | 7 | 7 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6756): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0008 | 0/0 | 6763 | 6 | 0 | 0 | 0 | 0 | 6 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0009 | 0/0 | 6761 | 6 | 5 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6756): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0012 | 0/0 | 6761 | 4 | 4 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6756): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0013 | 0/0 | 6763 | 3 | 0 | 0 | 3 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0014 | 0/0 | 6763 | 2 | 2 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0015 | 0/0 | 6763 | 2 | 0 | 0 | 2 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0016 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0017 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0022 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0023 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0024 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0025 | 0/0 | 6761 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6756): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0026 | 0/0 | 6763 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0027 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0028 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0029 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0031 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0033 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0035 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0036 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0037 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0038 | 0/0 | 6763 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0039 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0040 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0041 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0001t0042 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0001 | 0/0 | 6763 | 3 | 0 | 3 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0002 | 0/0 | 6763 | 48 | 5 | 8 | 27 | 3 | 5 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0010 | 0/0 | 6761 | 5 | 0 | 0 | 5 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6756): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0011 | 0/0 | 6763 | 4 | 0 | 1 | 3 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0018 | 0/0 | 6763 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0020 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0021 | 0/0 | 6763 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0002t0030 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0004t0002 | 0/0 | 6763 | 2 | 2 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0008t0005 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0001c0009t0034 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0002c0003t0001 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0002c0003t0002 | 0/0 | 6763 | 6 | 0 | 0 | 6 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0003c0005t0001 | 0/0 | 6763 | 2 | 0 | 0 | 2 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0004c0012t0001 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0005c0007t0032 | 0/0 | 6763 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0006c0006t0019 | 0/0 | 6774 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6769): Show |
chr22 | 24265831 | 24422738 |
a0007c0011t0005 | 0/0 | 6763 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0008c0010t0001 | 0/0 | 6763 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
a0009c0013t0001 | 0/1 | 6763 | 1 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | GCCCG others(6758): Show |
chr22 | 24265831 | 24422738 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0200 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0324 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0001g0325 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0002g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0003g0305 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0004g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0314 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0005g0315 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0006g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0007g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0300 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0301 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0302 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0303 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0008g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0009g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0012g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0012g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0012g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0012g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0013g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0013g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0013g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0014g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0014g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0015g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0015g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0016g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0017g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0022g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0023g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0024g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0025g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0026g0231 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0027g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0028g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0029g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0031g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0033g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0035g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0036g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0037g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0038g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0039g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0040g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0041g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0001t0042g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0007 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0133 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0002g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0010g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0010g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0010g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0010g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0010g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0011g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0011g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0011g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0011g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0018g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0020g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0021g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0002t0030g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0004t0002g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0004t0002g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0008t0005g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0001c0009t0034g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0002c0003t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0003c0005t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0003c0005t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0004c0012t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0005c0007t0032g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0006c0006t0019g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0007c0011t0005g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0008c0010t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
a0009c0013t0001g0270 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0232 | EUR | GBR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00140 | hp2 | a0001 | c0002 | t0002 | g0007 | EUR | GBR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0206 | EUR | FIN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00280 | hp2 | a0001 | c0001 | t0003 | g0150 | EUR | FIN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0248 | EUR | FIN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00323 | hp2 | a0001 | c0001 | t0003 | g0154 | EUR | FIN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00408 | hp1 | a0001 | c0001 | t0006 | g0172 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00408 | hp2 | a0002 | c0003 | t0002 | g0101 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00438 | hp1 | a0001 | c0001 | t0004 | g0018 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00544 | hp1 | a0001 | c0001 | t0003 | g0158 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00558 | hp1 | a0001 | c0001 | t0006 | g0170 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00609 | hp1 | a0001 | c0001 | t0040 | g0169 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00609 | hp2 | a0003 | c0005 | t0001 | g0287 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00621 | hp1 | a0001 | c0001 | t0003 | g0195 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00639 | hp1 | a0001 | c0002 | t0011 | g0112 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0236 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0319 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00673 | hp2 | a0001 | c0001 | t0006 | g0178 | EAS | CHS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0225 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0250 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0247 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0237 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0251 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG00741 | hp2 | a0001 | c0001 | t0003 | g0146 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01069 | hp1 | a0001 | c0002 | t0002 | g0134 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0271 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01070 | hp1 | a0001 | c0001 | t0003 | g0156 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01070 | hp2 | a0001 | c0009 | t0034 | g0067 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0272 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01071 | hp2 | a0001 | c0001 | t0003 | g0157 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0235 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0057 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01109 | hp2 | a0001 | c0002 | t0002 | g0132 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01167 | hp1 | a0001 | c0001 | t0005 | g0314 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0274 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01169 | hp1 | a0004 | c0012 | t0001 | g0215 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0275 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01175 | hp1 | a0001 | c0002 | t0002 | g0118 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01175 | hp2 | a0001 | c0001 | t0003 | g0044 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01192 | hp1 | a0001 | c0002 | t0002 | g0040 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01192 | hp2 | a0001 | c0001 | t0005 | g0315 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01243 | hp1 | a0001 | c0001 | t0002 | g0078 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0249 | AMR | PUR | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01261 | hp1 | a0001 | c0002 | t0002 | g0115 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01261 | hp2 | a0001 | c0002 | t0002 | g0136 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01346 | hp1 | a0001 | c0001 | t0009 | g0082 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0218 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01358 | hp1 | a0001 | c0001 | t0037 | g0220 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01358 | hp2 | a0001 | c0001 | t0003 | g0151 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0325 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01433 | hp2 | a0001 | c0001 | t0003 | g0148 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01515 | hp1 | a0001 | c0001 | t0026 | g0231 | EUR | IBS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01515 | hp2 | a0001 | c0002 | t0002 | g0135 | EUR | IBS | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01884 | hp1 | a0001 | c0001 | t0001 | g0280 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01884 | hp2 | a0001 | c0001 | t0009 | g0084 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01891 | hp1 | a0001 | c0001 | t0005 | g0311 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01891 | hp2 | a0001 | c0001 | t0012 | g0321 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01952 | hp1 | a0005 | c0007 | t0032 | g0119 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01952 | hp2 | a0001 | c0001 | t0003 | g0153 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01975 | hp1 | a0001 | c0002 | t0030 | g0106 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0214 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01981 | hp1 | a0001 | c0002 | t0002 | g0094 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01981 | hp2 | a0001 | c0001 | t0003 | g0045 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01993 | hp1 | a0001 | c0001 | t0042 | g0144 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01993 | hp2 | a0001 | c0002 | t0001 | g0128 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02015 | hp2 | a0001 | c0001 | t0003 | g0163 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02027 | hp2 | a0001 | c0002 | t0002 | g0137 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02055 | hp1 | a0001 | c0001 | t0002 | g0294 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0263 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02056 | hp2 | a0002 | c0003 | t0002 | g0100 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02071 | hp1 | a0001 | c0002 | t0002 | g0093 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02071 | hp2 | a0001 | c0001 | t0027 | g0217 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02074 | hp1 | a0001 | c0001 | t0003 | g0190 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02080 | hp1 | a0001 | c0001 | t0004 | g0024 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02129 | hp1 | a0001 | c0001 | t0003 | g0187 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02129 | hp2 | a0001 | c0002 | t0002 | g0109 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02132 | hp1 | a0003 | c0005 | t0001 | g0288 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02132 | hp2 | a0001 | c0002 | t0002 | g0120 | EAS | KHV | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02145 | hp1 | a0001 | c0001 | t0002 | g0075 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02145 | hp2 | a0001 | c0001 | t0007 | g0257 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02148 | hp1 | a0001 | c0001 | t0003 | g0043 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0234 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | CDX | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02155 | hp2 | a0001 | c0001 | t0003 | g0182 | EAS | CDX | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02257 | hp1 | a0001 | c0001 | t0023 | g0267 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02257 | hp2 | a0001 | c0002 | t0002 | g0318 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02280 | hp1 | a0001 | c0001 | t0005 | g0309 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02280 | hp2 | a0001 | c0001 | t0002 | g0284 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02293 | hp1 | a0001 | c0001 | t0003 | g0189 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02293 | hp2 | a0001 | c0002 | t0001 | g0117 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02300 | hp1 | a0001 | c0002 | t0001 | g0037 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02300 | hp2 | a0001 | c0001 | t0003 | g0152 | AMR | PEL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02451 | hp1 | a0001 | c0001 | t0012 | g0320 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02451 | hp2 | a0001 | c0004 | t0002 | g0114 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02572 | hp1 | a0001 | c0001 | t0009 | g0085 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02572 | hp2 | a0001 | c0001 | t0014 | g0013 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02615 | hp1 | a0001 | c0002 | t0002 | g0194 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02615 | hp2 | a0001 | c0001 | t0009 | g0083 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02622 | hp1 | a0001 | c0001 | t0022 | g0081 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02622 | hp2 | a0001 | c0002 | t0020 | g0138 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02647 | hp1 | a0001 | c0001 | t0012 | g0322 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0279 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02683 | hp1 | a0001 | c0001 | t0038 | g0147 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02683 | hp2 | a0001 | c0002 | t0018 | g0130 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02717 | hp1 | a0001 | c0001 | t0014 | g0012 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02717 | hp2 | a0001 | c0001 | t0002 | g0074 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0269 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02723 | hp2 | a0001 | c0001 | t0002 | g0080 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02735 | hp1 | a0001 | c0002 | t0002 | g0005 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02735 | hp2 | a0001 | c0001 | t0008 | g0302 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02738 | hp1 | a0006 | c0006 | t0019 | g0069 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02738 | hp2 | a0001 | c0001 | t0008 | g0303 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02818 | hp1 | a0001 | c0001 | t0002 | g0079 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02818 | hp2 | a0001 | c0001 | t0009 | g0193 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02895 | hp1 | a0001 | c0008 | t0005 | g0316 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02895 | hp2 | a0001 | c0001 | t0002 | g0283 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02922 | hp1 | a0001 | c0001 | t0009 | g0071 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02922 | hp2 | a0001 | c0001 | t0005 | g0310 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0252 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02965 | hp2 | a0001 | c0001 | t0035 | g0011 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02970 | hp1 | a0001 | c0001 | t0012 | g0323 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02970 | hp2 | a0001 | c0001 | t0007 | g0286 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02976 | hp1 | a0001 | c0001 | t0002 | g0073 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02976 | hp2 | a0001 | c0001 | t0007 | g0261 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03017 | hp1 | a0001 | c0001 | t0008 | g0300 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03017 | hp2 | a0001 | c0002 | t0021 | g0086 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0266 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0265 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03098 | hp2 | a0001 | c0001 | t0002 | g0293 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03130 | hp1 | a0001 | c0001 | t0002 | g0072 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03130 | hp2 | a0001 | c0001 | t0007 | g0259 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03139 | hp1 | a0001 | c0001 | t0002 | g0297 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0268 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03195 | hp1 | a0001 | c0001 | t0002 | g0076 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03195 | hp2 | a0001 | c0001 | t0002 | g0296 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03209 | hp1 | a0001 | c0002 | t0002 | g0092 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0264 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03239 | hp2 | a0001 | c0002 | t0002 | g0006 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03486 | hp1 | a0001 | c0004 | t0002 | g0113 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03486 | hp2 | a0001 | c0001 | t0017 | g0285 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03516 | hp1 | a0001 | c0001 | t0002 | g0077 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03516 | hp2 | a0007 | c0011 | t0005 | g0317 | AFR | ESN | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03540 | hp1 | a0001 | c0002 | t0002 | g0139 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0281 | AFR | GWD | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03579 | hp1 | a0001 | c0001 | t0002 | g0295 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03579 | hp2 | a0001 | c0001 | t0007 | g0260 | AFR | MSL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03654 | hp1 | a0001 | c0001 | t0003 | g0145 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03654 | hp2 | a0001 | c0001 | t0004 | g0036 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03710 | hp1 | a0001 | c0002 | t0002 | g0041 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0055 | SAS | PJL | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03831 | hp1 | a0001 | c0001 | t0003 | g0305 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03831 | hp2 | a0001 | c0001 | t0008 | g0304 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0211 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03834 | hp2 | a0001 | c0001 | t0004 | g0033 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03927 | hp1 | a0001 | c0001 | t0008 | g0301 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0324 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03942 | hp1 | a0001 | c0002 | t0002 | g0008 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG03942 | hp2 | a0001 | c0001 | t0008 | g0299 | SAS | BEB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0262 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04115 | hp2 | a0001 | c0001 | t0004 | g0032 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0223 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04199 | hp2 | a0001 | c0001 | t0003 | g0174 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04204 | hp1 | a0001 | c0002 | t0002 | g0198 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0052 | SAS | STU | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18522 | hp1 | a0001 | c0002 | t0002 | g0003 | AFR | YRI | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18522 | hp2 | a0001 | c0001 | t0007 | g0255 | AFR | YRI | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18612 | hp1 | a0001 | c0001 | t0003 | g0192 | EAS | CHB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | CHB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18747 | hp1 | a0001 | c0001 | t0036 | g0034 | EAS | CHB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0308 | EAS | CHB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18939 | hp1 | a0001 | c0001 | t0015 | g0025 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18939 | hp2 | a0001 | c0002 | t0011 | g0110 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18941 | hp2 | a0001 | c0001 | t0006 | g0142 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18942 | hp1 | a0001 | c0002 | t0002 | g0121 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18943 | hp1 | a0001 | c0001 | t0003 | g0179 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18944 | hp1 | a0002 | c0003 | t0002 | g0102 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18944 | hp2 | a0001 | c0001 | t0003 | g0070 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18945 | hp1 | a0001 | c0001 | t0004 | g0021 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18945 | hp2 | a0002 | c0003 | t0002 | g0103 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18946 | hp1 | a0001 | c0002 | t0010 | g0104 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18946 | hp2 | a0001 | c0001 | t0013 | g0292 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18947 | hp1 | a0001 | c0002 | t0002 | g0107 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18947 | hp2 | a0001 | c0001 | t0004 | g0065 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18948 | hp1 | a0001 | c0002 | t0010 | g0196 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18957 | hp1 | a0001 | c0001 | t0001 | g0307 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18957 | hp2 | a0001 | c0002 | t0002 | g0089 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18959 | hp2 | a0001 | c0001 | t0006 | g0042 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18960 | hp2 | a0001 | c0001 | t0004 | g0020 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18961 | hp1 | a0001 | c0001 | t0004 | g0022 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18961 | hp2 | a0001 | c0002 | t0010 | g0090 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18964 | hp1 | a0001 | c0001 | t0003 | g0168 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18964 | hp2 | a0001 | c0002 | t0002 | g0129 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18966 | hp1 | a0001 | c0002 | t0002 | g0097 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18966 | hp2 | a0001 | c0001 | t0003 | g0197 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18968 | hp1 | a0001 | c0001 | t0004 | g0028 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18968 | hp2 | a0001 | c0002 | t0002 | g0125 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18969 | hp2 | a0001 | c0001 | t0004 | g0014 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18973 | hp1 | a0001 | c0001 | t0003 | g0159 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18973 | hp2 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18974 | hp2 | a0001 | c0001 | t0003 | g0185 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0290 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18975 | hp2 | a0001 | c0001 | t0004 | g0029 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18977 | hp1 | a0001 | c0001 | t0004 | g0023 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18977 | hp2 | a0001 | c0002 | t0002 | g0291 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18978 | hp1 | a0001 | c0001 | t0003 | g0180 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18978 | hp2 | a0001 | c0002 | t0002 | g0306 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18979 | hp1 | a0001 | c0001 | t0003 | g0141 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18979 | hp2 | a0001 | c0001 | t0004 | g0016 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18980 | hp1 | a0001 | c0002 | t0002 | g0039 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18980 | hp2 | a0001 | c0001 | t0003 | g0181 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18982 | hp1 | a0001 | c0002 | t0010 | g0087 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18982 | hp2 | a0001 | c0001 | t0015 | g0026 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18986 | hp1 | a0001 | c0001 | t0006 | g0177 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18986 | hp2 | a0001 | c0002 | t0002 | g0096 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18987 | hp1 | a0001 | c0002 | t0002 | g0126 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18987 | hp2 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18989 | hp1 | a0001 | c0001 | t0013 | g0165 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18990 | hp1 | a0001 | c0001 | t0024 | g0205 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18990 | hp2 | a0001 | c0002 | t0002 | g0099 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18991 | hp1 | a0001 | c0001 | t0003 | g0188 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18991 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18992 | hp2 | a0001 | c0001 | t0006 | g0176 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18995 | hp1 | a0001 | c0002 | t0002 | g0199 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0245 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18998 | hp1 | a0001 | c0002 | t0002 | g0124 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18999 | hp1 | a0008 | c0010 | t0001 | g0056 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18999 | hp2 | a0001 | c0002 | t0002 | g0123 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19000 | hp1 | a0001 | c0001 | t0004 | g0068 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19002 | hp1 | a0001 | c0001 | t0003 | g0162 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19002 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19005 | hp2 | a0001 | c0001 | t0004 | g0027 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19006 | hp2 | a0001 | c0002 | t0002 | g0066 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0289 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19007 | hp2 | a0001 | c0002 | t0002 | g0105 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19010 | hp1 | a0001 | c0001 | t0003 | g0167 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19011 | hp1 | a0001 | c0001 | t0003 | g0160 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19012 | hp2 | a0001 | c0001 | t0013 | g0173 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19030 | hp1 | a0001 | c0001 | t0031 | g0278 | AFR | LWK | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0276 | AFR | LWK | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19043 | hp1 | a0001 | c0001 | t0005 | g0313 | AFR | LWK | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19043 | hp2 | a0001 | c0001 | t0029 | g0009 | AFR | LWK | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19054 | hp1 | a0001 | c0001 | t0003 | g0184 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19054 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19058 | hp1 | a0001 | c0002 | t0002 | g0098 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19058 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19060 | hp2 | a0001 | c0001 | t0006 | g0166 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19062 | hp1 | a0002 | c0003 | t0002 | g0095 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19062 | hp2 | a0001 | c0001 | t0003 | g0186 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19065 | hp1 | a0001 | c0002 | t0002 | g0131 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19065 | hp2 | a0001 | c0001 | t0003 | g0091 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19067 | hp1 | a0001 | c0001 | t0003 | g0175 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19067 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19068 | hp1 | a0002 | c0003 | t0002 | g0116 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19070 | hp1 | a0001 | c0001 | t0004 | g0031 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19070 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19074 | hp1 | a0001 | c0001 | t0003 | g0161 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0298 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19076 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19076 | hp2 | a0001 | c0002 | t0010 | g0064 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19077 | hp1 | a0001 | c0002 | t0011 | g0122 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19077 | hp2 | a0001 | c0001 | t0004 | g0030 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19079 | hp1 | a0001 | c0001 | t0002 | g0061 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19079 | hp2 | a0002 | c0003 | t0001 | g0038 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19080 | hp1 | a0001 | c0002 | t0002 | g0088 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19080 | hp2 | a0001 | c0001 | t0006 | g0143 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19082 | hp1 | a0001 | c0001 | t0004 | g0015 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19082 | hp2 | a0001 | c0002 | t0002 | g0108 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19083 | hp1 | a0001 | c0001 | t0033 | g0017 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19083 | hp2 | a0001 | c0001 | t0003 | g0171 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19084 | hp1 | a0001 | c0001 | t0004 | g0019 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19084 | hp2 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19087 | hp2 | a0001 | c0001 | t0003 | g0140 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA19091 | hp2 | a0001 | c0002 | t0011 | g0111 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20129 | hp1 | a0001 | c0001 | t0028 | g0282 | AFR | ASW | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0277 | AFR | ASW | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0210 | EUR | TSI | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20805 | hp2 | a0001 | c0002 | t0002 | g0133 | EUR | TSI | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0273 | SAS | GIH | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA20905 | hp2 | a0001 | c0001 | t0003 | g0155 | SAS | GIH | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01123 | hp1 | a0001 | c0002 | t0002 | g0127 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG01123 | hp2 | a0001 | c0001 | t0039 | g0149 | AMR | CLM | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02109 | hp1 | a0001 | c0001 | t0005 | g0312 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02109 | hp2 | a0001 | c0001 | t0016 | g0054 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02486 | hp2 | a0001 | c0001 | t0003 | g0164 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02559 | hp1 | a0001 | c0001 | t0025 | g0258 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG02559 | hp2 | a0001 | c0001 | t0005 | g0004 | AFR | ACB | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG06807 | hp1 | a0001 | c0001 | t0041 | g0191 | AFR | USA | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
HG06807 | hp2 | a0001 | c0001 | t0007 | g0256 | AFR | USA | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18955 | hp1 | a0001 | c0001 | t0002 | g0060 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
NA18955 | hp2 | a0001 | c0001 | t0004 | g0035 | EAS | JPT | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
homoSapiens | chm13v2 | a0009 | c0013 | t0001 | g0270 | REF | REF | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0200 | REF | REF | SPECC1L_chr22_24265831_24422738 | SPECC1L | chr22 | 24265831 | 24422738 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:24321542 | C | T | 1 | a0004 | 1 | HG01169.hp1 | missense_variant | MODERATE | c.562C>T | p.Leu188Phe | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 856/6763 | 562/3354 | 188/1117 | chr22 | 24321542 | |||
chr22:24321580 | A | T | 1 | a0006 | 1 | HG02738.hp1 | missense_variant | MODERATE | c.600A>T | p.Leu200Phe | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 894/6763 | 600/3354 | 200/1117 | chr22 | 24321580 | |||
chr22:24321669 | C | T | 1 | a0002 | 7 | HG00408.hp2 HG02056.hp2 NA18944.hp1 others(4): Show |
missense_variant | MODERATE | c.689C>T | p.Thr230Ile | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 983/6763 | 689/3354 | 230/1117 | chr22 | 24321669 | |||
chr22:24321867 | C | T | 1 | a0007 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.887C>T | p.Pro296Leu | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1181/6763 | 887/3354 | 296/1117 | chr22 | 24321867 | |||
chr22:24321875 | A | G | 1 | a0008 | 1 | NA18999.hp1 | missense_variant | MODERATE | c.895A>G | p.Thr299Ala | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1189/6763 | 895/3354 | 299/1117 | chr22 | 24321875 | |||
chr22:24322353 | A | G | 1 | a0005 | 1 | HG01952.hp1 | missense_variant | MODERATE | c.1373A>G | p.His458Arg | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1667/6763 | 1373/3354 | 458/1117 | chr22 | 24322353 | |||
chr22:24347122 | C | T | 1 | a0003 | 2 | HG00609.hp2 HG02132.hp1 |
missense_variant | MODERATE | c.2689C>T | p.Pro897Ser | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/17 | 2983/6763 | 2689/3354 | 897/1117 | chr22 | 24347122 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:24302276 | T | C | 1 | a0006c0006 | 1 | HG02738.hp1 | synonymous_variant | LOW | c.45T>C | p.Ser15Ser | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/17 | 339/6763 | 45/3354 | 15/1117 | chr22 | 24302276 | |||
chr22:24321550 | G | A | 4 | a0001c0002 a0001c0004 a0002c0003 others(1): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
synonymous_variant | LOW | c.570G>A | p.Thr190Thr | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 864/6763 | 570/3354 | 190/1117 | chr22 | 24321550 | |||
chr22:24322339 | C | T | 1 | a0001c0004 | 2 | HG02451.hp2 HG03486.hp1 |
synonymous_variant | LOW | c.1359C>T | p.Ser453Ser | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1653/6763 | 1359/3354 | 453/1117 | chr22 | 24322339 | |||
chr22:24322522 | G | A | 1 | a0001c0008 | 1 | HG02895.hp1 | synonymous_variant | LOW | c.1542G>A | p.Gln514Gln | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1836/6763 | 1542/3354 | 514/1117 | chr22 | 24322522 | |||
chr22:24322633 | G | A | 1 | a0007c0011 | 1 | HG03516.hp2 | synonymous_variant | LOW | c.1653G>A | p.Glu551Glu | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/17 | 1947/6763 | 1653/3354 | 551/1117 | chr22 | 24322633 | |||
chr22:24328904 | C | T | 1 | a0001c0009 | 1 | HG01070.hp2 | synonymous_variant | LOW | c.2205C>T | p.Leu735Leu | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/17 | 2499/6763 | 2205/3354 | 735/1117 | chr22 | 24328904 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:24270867 | C | G | 8 | a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(5): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
5_prime_UTR_variant | MODIFIER | c.-258C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/17 | 31365 | chr22 | 24270867 | ||||||
chr22:24270881 | G | C | 2 | a0001c0001t0006 a0001c0001t0013 |
12 | HG00408.hp1 HG00558.hp1 HG00673.hp2 others(9): Show |
5_prime_UTR_variant | MODIFIER | c.-244G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/17 | 31351 | chr22 | 24270881 | ||||||
chr22:24270888 | T | C | 1 | a0001c0001t0016 | 1 | HG02109.hp2 | 5_prime_UTR_variant | MODIFIER | c.-237T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/17 | 31344 | chr22 | 24270888 | ||||||
chr22:24270898 | C | T | 1 | a0001c0001t0012 | 4 | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-227C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/17 | 31334 | chr22 | 24270898 | ||||||
chr22:24276726 | C | T | 1 | a0001c0001t0037 | 1 | HG01358.hp1 | 5_prime_UTR_variant | MODIFIER | c.-115C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/17 | 25506 | chr22 | 24276726 | ||||||
chr22:24276750 | A | G | 7 | a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(4): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
5_prime_UTR_variant | MODIFIER | c.-91A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/17 | 25482 | chr22 | 24276750 | ||||||
chr22:24414788 | G | A | 1 | a0001c0001t0014 | 2 | HG02572.hp2 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*165G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 165 | chr22 | 24414788 | ||||||
chr22:24414807 | C | G | 1 | a0001c0001t0014 | 2 | HG02572.hp2 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*184C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 184 | chr22 | 24414807 | ||||||
chr22:24414999 | A | G | 1 | a0001c0001t0014 | 2 | HG02572.hp2 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*376A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 376 | chr22 | 24414999 | ||||||
chr22:24415087 | G | A | 1 | a0001c0001t0014 | 2 | HG02572.hp2 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*464G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 464 | chr22 | 24415087 | ||||||
chr22:24415121 | G | A | 1 | a0001c0001t0017 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*498G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 498 | chr22 | 24415121 | ||||||
chr22:24415190 | G | A | 1 | a0001c0002t0018 | 1 | HG02683.hp2 | 3_prime_UTR_variant | MODIFIER | c.*567G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 567 | chr22 | 24415190 | ||||||
chr22:24415253 | C | T | 1 | a0005c0007t0032 | 1 | HG01952.hp1 | 3_prime_UTR_variant | MODIFIER | c.*630C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 630 | chr22 | 24415253 | ||||||
chr22:24415256 | G | A | 1 | a0001c0001t0008 | 6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*633G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 633 | chr22 | 24415256 | ||||||
chr22:24415257 | C | G | 1 | a0001c0001t0031 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*634C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 634 | chr22 | 24415257 | ||||||
chr22:24415258 | C | G | 1 | a0001c0002t0030 | 1 | HG01975.hp1 | 3_prime_UTR_variant | MODIFIER | c.*635C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 635 | chr22 | 24415258 | ||||||
chr22:24415283 | T | C | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*660T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 660 | chr22 | 24415283 | ||||||
chr22:24415286 | C | T | 1 | a0001c0001t0015 | 2 | NA18939.hp1 NA18982.hp2 |
3_prime_UTR_variant | MODIFIER | c.*663C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 663 | chr22 | 24415286 | ||||||
chr22:24415333 | G | A | 1 | a0001c0001t0017 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*710G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 710 | chr22 | 24415333 | ||||||
chr22:24415431 | GTT | G | 1 | a0001c0002t0010 | 5 | NA18946.hp1 NA18948.hp1 NA18961.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*811_*812delTT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 811 | INFO_REALIGN_3_PRIME | chr22 | 24415431 | |||||
chr22:24415488 | C | T | 1 | a0001c0001t0006 | 9 | HG00408.hp1 HG00558.hp1 HG00673.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*865C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 865 | chr22 | 24415488 | ||||||
chr22:24415496 | C | T | 1 | a0001c0001t0029 | 1 | NA19043.hp2 | 3_prime_UTR_variant | MODIFIER | c.*873C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 873 | chr22 | 24415496 | ||||||
chr22:24415699 | G | A | 34 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(31): Show |
208 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(205): Show |
3_prime_UTR_variant | MODIFIER | c.*1076G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1076 | chr22 | 24415699 | ||||||
chr22:24415783 | C | T | 1 | a0001c0001t0028 | 1 | NA20129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1160C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1160 | chr22 | 24415783 | ||||||
chr22:24415864 | C | T | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1241C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1241 | chr22 | 24415864 | ||||||
chr22:24415890 | T | G | 1 | a0001c0001t0033 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1267T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1267 | chr22 | 24415890 | ||||||
chr22:24415899 | G | A | 1 | a0001c0001t0023 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1276G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1276 | chr22 | 24415899 | ||||||
chr22:24415946 | C | G | 5 | a0001c0001t0004 a0001c0001t0015 a0001c0001t0033 others(2): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*1323C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1323 | chr22 | 24415946 | ||||||
chr22:24416144 | C | T | 1 | a0001c0001t0042 | 1 | HG01993.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1521C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1521 | chr22 | 24416144 | ||||||
chr22:24416207 | G | A | 2 | a0001c0001t0016 a0001c0001t0024 |
2 | HG02109.hp2 NA18990.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1584G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1584 | chr22 | 24416207 | ||||||
chr22:24416256 | G | C | 1 | a0001c0002t0020 | 1 | HG02622.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1633G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1633 | chr22 | 24416256 | ||||||
chr22:24416303 | T | C | 1 | a0001c0001t0035 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1680T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1680 | chr22 | 24416303 | ||||||
chr22:24416304 | G | A | 2 | a0001c0001t0038 a0001c0001t0039 |
2 | HG01123.hp2 HG02683.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1681G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1681 | chr22 | 24416304 | ||||||
chr22:24416348 | CAA | C | 2 | a0001c0001t0009 a0001c0001t0012 |
10 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1727_*1728delAA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1727 | INFO_REALIGN_3_PRIME | chr22 | 24416348 | |||||
chr22:24416397 | C | T | 1 | a0001c0001t0027 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1774C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1774 | chr22 | 24416397 | ||||||
chr22:24416409 | T | C | 33 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show |
204 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(201): Show |
3_prime_UTR_variant | MODIFIER | c.*1786T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1786 | chr22 | 24416409 | ||||||
chr22:24416563 | G | A | 1 | a0001c0002t0011 | 4 | HG00639.hp1 NA18939.hp2 NA19077.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1940G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1940 | chr22 | 24416563 | ||||||
chr22:24416579 | C | T | 3 | a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1956C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1956 | chr22 | 24416579 | ||||||
chr22:24416580 | G | A | 3 | a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1957G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1957 | chr22 | 24416580 | ||||||
chr22:24416593 | T | C | 1 | a0001c0001t0038 | 1 | HG02683.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1970T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 1970 | chr22 | 24416593 | ||||||
chr22:24416667 | C | G | 1 | a0001c0001t0041 | 1 | HG06807.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2044C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2044 | chr22 | 24416667 | ||||||
chr22:24416729 | G | T | 1 | a0001c0001t0036 | 1 | NA18747.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2106G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2106 | chr22 | 24416729 | ||||||
chr22:24416833 | T | G | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2210T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2210 | chr22 | 24416833 | ||||||
chr22:24416893 | G | A | 1 | a0001c0002t0021 | 1 | HG03017.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2270G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2270 | chr22 | 24416893 | ||||||
chr22:24416976 | G | A | 1 | a0001c0001t0035 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2353G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2353 | chr22 | 24416976 | ||||||
chr22:24416998 | CTG | C | 2 | a0001c0001t0007 a0001c0001t0025 |
8 | HG02145.hp2 HG02559.hp1 HG02970.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2378_*2379delTG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2378 | INFO_REALIGN_3_PRIME | chr22 | 24416998 | |||||
chr22:24417019 | A | G | 1 | a0001c0001t0026 | 1 | HG01515.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2396A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2396 | chr22 | 24417019 | ||||||
chr22:24417197 | G | T | 15 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(12): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*2574G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2574 | chr22 | 24417197 | ||||||
chr22:24417284 | C | CCTGCCGT others(4): Show |
1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2665_*2675dupCCGT others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2676 | INFO_REALIGN_3_PRIME | chr22 | 24417284 | |||||
chr22:24417406 | C | A | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2783C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2783 | chr22 | 24417406 | ||||||
chr22:24417435 | T | A | 1 | a0001c0001t0025 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2812T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2812 | chr22 | 24417435 | ||||||
chr22:24417476 | G | A | 1 | a0001c0001t0014 | 2 | HG02572.hp2 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2853G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2853 | chr22 | 24417476 | ||||||
chr22:24417600 | G | A | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2977G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2977 | chr22 | 24417600 | ||||||
chr22:24417606 | G | A | 4 | a0001c0001t0004 a0001c0001t0015 a0001c0001t0033 others(1): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*2983G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 2983 | chr22 | 24417606 | ||||||
chr22:24417673 | A | T | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3050A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 3050 | chr22 | 24417673 | ||||||
chr22:24417707 | C | T | 1 | a0001c0001t0040 | 1 | HG00609.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3084C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 3084 | chr22 | 24417707 | ||||||
chr22:24417726 | T | C | 1 | a0006c0006t0019 | 1 | HG02738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3103T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 17/17 | 3103 | chr22 | 24417726 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:24271016 | G | C | 1 | a0001c0001t0001g0002 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.-142+33G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271016 | |||||||
chr22:24271028 | G | C | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-142+45G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271028 | |||||||
chr22:24271081 | C | T | 2 | a0001c0001t0001g0324 a0001c0001t0001g0325 |
2 | HG01433.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.-142+98C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271081 | |||||||
chr22:24271111 | C | T | 4 | a0001c0001t0012g0320 a0001c0001t0012g0321 a0001c0001t0012g0322 others(1): Show |
4 | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-142+128C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271111 | |||||||
chr22:24271121 | C | T | 1 | a0001c0001t0001g0319 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-142+138C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271121 | |||||||
chr22:24271124 | C | T | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-142+141C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271124 | |||||||
chr22:24271174 | G | A | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-142+191G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271174 | |||||||
chr22:24271204 | G | A | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-142+221G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271204 | |||||||
chr22:24271253 | G | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-142+270G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271253 | |||||||
chr22:24271285 | G | C | 4 | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 others(1): Show |
4 | HG00140.hp2 HG02735.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.-142+302G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271285 | |||||||
chr22:24271321 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-142+338C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271321 | |||||||
chr22:24271510 | C | T | 2 | a0001c0001t0001g0307 a0001c0001t0001g0308 |
2 | NA18747.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.-142+527C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271510 | |||||||
chr22:24271807 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-142+824A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271807 | |||||||
chr22:24271845 | A | G | 1 | a0001c0002t0002g0306 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-142+862A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271845 | |||||||
chr22:24271999 | C | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-142+1016C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24271999 | |||||||
chr22:24272082 | T | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-142+1099T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272082 | |||||||
chr22:24272324 | C | T | 7 | a0001c0001t0003g0305 a0001c0001t0008g0299 a0001c0001t0008g0300 others(4): Show |
7 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.-142+1341C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272324 | |||||||
chr22:24272383 | T | TAAAAACA others(26): Show |
1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.-142+1401_-142+140 others(37): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24272383 | ||||||
chr22:24272385 | T | A | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.-142+1402T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272385 | |||||||
chr22:24272389 | A | C | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.-142+1406A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272389 | |||||||
chr22:24272542 | A | T | 1 | a0001c0001t0001g0298 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.-142+1559A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272542 | |||||||
chr22:24272666 | C | CA | 56 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(53): Show |
56 | HG00438.hp1 HG00673.hp1 HG01081.hp2 others(53): Show |
intron_variant | MODIFIER | c.-142+1698dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24272666 | ||||||
chr22:24272666 | CA | C | 7 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(4): Show |
7 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.-142+1698delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24272666 | ||||||
chr22:24272722 | C | G | 2 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | NA18975.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-142+1739C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272722 | |||||||
chr22:24272828 | C | CCCCCCCC others(30): Show |
1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.-142+1846_-142+184 others(41): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24272828 | ||||||
chr22:24272830 | T | C | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.-142+1847T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24272830 | |||||||
chr22:24273142 | GTTTCTTC others(12): Show |
G | 1 | a0001c0001t0004g0065 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-142+2162_-142+218 others(23): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24273142 | ||||||
chr22:24273497 | G | A | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.-142+2514G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273497 | |||||||
chr22:24273537 | G | A | 2 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | NA18975.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-142+2554G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273537 | |||||||
chr22:24273617 | A | G | 1 | a0001c0002t0002g0199 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.-142+2634A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273617 | |||||||
chr22:24273887 | T | G | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-141-2813T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273887 | |||||||
chr22:24273890 | G | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-141-2810G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273890 | |||||||
chr22:24273891 | T | C | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-141-2809T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273891 | |||||||
chr22:24273892 | G | T | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-141-2808G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273892 | |||||||
chr22:24273944 | G | T | 2 | a0003c0005t0001g0287 a0003c0005t0001g0288 |
2 | HG00609.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.-141-2756G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24273944 | |||||||
chr22:24274001 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-141-2699G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274001 | |||||||
chr22:24274751 | C | T | 264 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(261): Show |
265 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(262): Show |
intron_variant | MODIFIER | c.-141-1949C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274751 | |||||||
chr22:24274789 | T | C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-141-1911T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274789 | |||||||
chr22:24274803 | A | G | 1 | a0001c0002t0002g0198 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-141-1897A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274803 | |||||||
chr22:24274846 | T | C | 3 | a0001c0001t0003g0070 a0001c0001t0014g0012 a0001c0001t0014g0013 |
3 | HG02572.hp2 HG02717.hp1 NA18944.hp2 |
intron_variant | MODIFIER | c.-141-1854T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274846 | |||||||
chr22:24274847 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-141-1853A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274847 | |||||||
chr22:24274878 | T | C | 3 | a0001c0001t0001g0298 a0001c0001t0003g0070 a0001c0001t0009g0071 |
3 | HG02922.hp1 NA18944.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-141-1822T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274878 | |||||||
chr22:24274948 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-141-1752C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274948 | |||||||
chr22:24274969 | A | C | 1 | a0001c0001t0001g0246 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-141-1731A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24274969 | |||||||
chr22:24275145 | A | G | 7 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(4): Show |
7 | NA18974.hp1 NA18989.hp2 NA18995.hp2 others(4): Show |
intron_variant | MODIFIER | c.-141-1555A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275145 | |||||||
chr22:24275164 | G | A | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.-141-1536G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275164 | |||||||
chr22:24275184 | A | G | 2 | a0001c0002t0002g0198 a0006c0006t0019g0069 |
2 | HG02738.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.-141-1516A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275184 | |||||||
chr22:24275193 | G | A | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.-141-1507G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275193 | |||||||
chr22:24275211 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-141-1489A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275211 | |||||||
chr22:24275215 | A | G | 1 | a0001c0001t0003g0197 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.-141-1485A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275215 | |||||||
chr22:24275219 | G | A | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-141-1481G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275219 | |||||||
chr22:24275330 | A | C | 1 | a0001c0002t0010g0196 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.-141-1370A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275330 | |||||||
chr22:24275425 | G | A | 5 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(2): Show |
5 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(2): Show |
intron_variant | MODIFIER | c.-141-1275G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275425 | |||||||
chr22:24275552 | C | CT | 13 | a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0250 others(10): Show |
13 | HG00621.hp1 HG00735.hp2 HG00741.hp1 others(10): Show |
intron_variant | MODIFIER | c.-141-1132dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24275552 | ||||||
chr22:24275552 | CT | C | 13 | a0001c0001t0001g0046 a0001c0001t0001g0252 a0001c0001t0001g0253 others(10): Show |
13 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(10): Show |
intron_variant | MODIFIER | c.-141-1132delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 24275552 | ||||||
chr22:24275635 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-141-1065G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275635 | |||||||
chr22:24275654 | C | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-141-1046C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275654 | |||||||
chr22:24275875 | A | G | 1 | a0001c0001t0007g0286 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-141-825A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275875 | |||||||
chr22:24275935 | A | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-141-765A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24275935 | |||||||
chr22:24276151 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-141-549A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276151 | |||||||
chr22:24276166 | C | T | 1 | a0001c0001t0004g0014 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.-141-534C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276166 | |||||||
chr22:24276269 | A | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-141-431A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276269 | |||||||
chr22:24276316 | C | G | 7 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(4): Show |
7 | NA18941.hp1 NA18948.hp2 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.-141-384C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276316 | |||||||
chr22:24276414 | C | T | 1 | a0001c0001t0001g0237 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-141-286C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276414 | |||||||
chr22:24276487 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-141-213G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276487 | |||||||
chr22:24276503 | C | T | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-141-197C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276503 | |||||||
chr22:24276664 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-141-36T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | chr22 | 24276664 | |||||||
chr22:24276822 | A | G | 1 | a0001c0001t0009g0085 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-38+19A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24276822 | |||||||
chr22:24277080 | C | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+277C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277080 | |||||||
chr22:24277096 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-38+293A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277096 | |||||||
chr22:24277272 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+469C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277272 | |||||||
chr22:24277274 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+471G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277274 | |||||||
chr22:24277456 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-38+653G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277456 | |||||||
chr22:24277458 | A | G | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.-38+655A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277458 | |||||||
chr22:24277501 | A | G | 1 | a0001c0001t0003g0044 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-38+698A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277501 | |||||||
chr22:24277616 | A | G | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.-38+813A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277616 | |||||||
chr22:24277682 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-38+879G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277682 | |||||||
chr22:24277685 | C | T | 5 | a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 others(2): Show |
5 | HG01243.hp1 HG02723.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+882C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277685 | |||||||
chr22:24277809 | G | A | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-38+1006G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277809 | |||||||
chr22:24277874 | A | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.-38+1071A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277874 | |||||||
chr22:24277960 | T | C | 2 | a0001c0001t0002g0293 a0001c0001t0002g0294 |
2 | HG02055.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.-38+1157T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24277960 | |||||||
chr22:24278286 | A | C | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-38+1483A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278286 | |||||||
chr22:24278321 | A | C | 1 | a0001c0001t0003g0192 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-38+1518A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278321 | |||||||
chr22:24278513 | C | A | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-38+1710C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278513 | |||||||
chr22:24278571 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+1768C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278571 | |||||||
chr22:24278611 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+1808T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278611 | |||||||
chr22:24278665 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+1862T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278665 | |||||||
chr22:24278669 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-38+1866A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278669 | |||||||
chr22:24278728 | A | G | 1 | a0001c0001t0001g0063 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-38+1925A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278728 | |||||||
chr22:24278876 | G | C | 1 | a0001c0001t0001g0254 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.-38+2073G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278876 | |||||||
chr22:24278947 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.-38+2144G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278947 | |||||||
chr22:24278968 | C | T | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-38+2165C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24278968 | |||||||
chr22:24279001 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+2198C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279001 | |||||||
chr22:24279127 | A | C | 2 | a0001c0001t0001g0057 a0001c0001t0001g0235 |
2 | HG01081.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.-38+2324A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279127 | |||||||
chr22:24279128 | T | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0235 |
2 | HG01081.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.-38+2325T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279128 | |||||||
chr22:24279140 | A | G | 1 | a0001c0001t0001g0238 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-38+2337A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279140 | |||||||
chr22:24279205 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+2402A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279205 | |||||||
chr22:24279369 | A | T | 68 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(65): Show |
68 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.-38+2566A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279369 | |||||||
chr22:24279455 | C | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-38+2652C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279455 | |||||||
chr22:24279570 | A | AATT | 22 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(19): Show |
22 | HG01167.hp1 HG01192.hp2 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.-38+2783_-38+2785d others(5): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24279570 | ||||||
chr22:24279570 | A | AATTATT | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.-38+2780_-38+2785d others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24279570 | ||||||
chr22:24279570 | A | AATTATTA others(5): Show |
2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-38+2774_-38+2785d others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24279570 | ||||||
chr22:24279570 | A | AATTATTA others(8): Show |
1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+2771_-38+2785d others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24279570 | ||||||
chr22:24279652 | A | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+2849A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279652 | |||||||
chr22:24279841 | G | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+3038G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279841 | |||||||
chr22:24279992 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+3189T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24279992 | |||||||
chr22:24280112 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+3309A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280112 | |||||||
chr22:24280186 | C | T | 5 | a0001c0001t0009g0071 a0001c0001t0012g0320 a0001c0001t0012g0321 others(2): Show |
5 | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+3383C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280186 | |||||||
chr22:24280200 | A | G | 1 | a0001c0001t0041g0191 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-38+3397A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280200 | |||||||
chr22:24280238 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+3435G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280238 | |||||||
chr22:24280267 | C | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-38+3464C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280267 | |||||||
chr22:24280343 | A | G | 1 | a0001c0001t0004g0035 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-38+3540A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280343 | |||||||
chr22:24280497 | T | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-38+3694T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280497 | |||||||
chr22:24280577 | A | AT | 111 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0072 others(108): Show |
112 | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.-38+3794dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24280577 | ||||||
chr22:24280577 | A | T | 9 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(6): Show |
9 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.-38+3774A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280577 | |||||||
chr22:24280577 | AT | A | 6 | a0001c0001t0002g0060 a0001c0001t0006g0142 a0001c0001t0006g0170 others(3): Show |
6 | HG00558.hp1 HG02132.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-38+3794delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24280577 | ||||||
chr22:24280602 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.-38+3799C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280602 | |||||||
chr22:24280613 | T | G | 1 | a0001c0001t0003g0140 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-38+3810T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280613 | |||||||
chr22:24280770 | C | G | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-38+3967C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24280770 | |||||||
chr22:24281057 | G | A | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.-38+4254G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281057 | |||||||
chr22:24281269 | C | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+4466C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281269 | |||||||
chr22:24281308 | C | T | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.-38+4505C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281308 | |||||||
chr22:24281508 | T | C | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-38+4705T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281508 | |||||||
chr22:24281557 | A | G | 3 | a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0028g0282 |
3 | HG02280.hp2 HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-38+4754A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281557 | |||||||
chr22:24281573 | T | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-38+4770T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281573 | |||||||
chr22:24281761 | A | C | 3 | a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0020g0138 |
3 | HG02615.hp1 HG02622.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-38+4958A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281761 | |||||||
chr22:24281771 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+4968A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281771 | |||||||
chr22:24281839 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+5036C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281839 | |||||||
chr22:24281861 | T | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-38+5058T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281861 | |||||||
chr22:24281863 | G | T | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-38+5060G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281863 | |||||||
chr22:24281989 | G | C | 2 | a0001c0001t0005g0004 a0007c0011t0005g0317 |
2 | HG02559.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-38+5186G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24281989 | |||||||
chr22:24282065 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-38+5262C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282065 | |||||||
chr22:24282389 | T | C | 1 | a0001c0001t0012g0320 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-38+5586T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282389 | |||||||
chr22:24282513 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-38+5710A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282513 | |||||||
chr22:24282542 | A | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.-38+5739A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282542 | |||||||
chr22:24282562 | A | T | 1 | a0001c0001t0001g0281 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-38+5759A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282562 | |||||||
chr22:24282577 | G | A | 21 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(18): Show |
21 | HG00438.hp1 HG02080.hp1 NA18939.hp1 others(18): Show |
intron_variant | MODIFIER | c.-38+5774G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282577 | |||||||
chr22:24282652 | G | A | 1 | a0001c0002t0010g0087 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-38+5849G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282652 | |||||||
chr22:24282732 | C | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+5929C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282732 | |||||||
chr22:24282778 | A | AT | 68 | a0001c0001t0003g0091 a0001c0001t0003g0189 a0001c0001t0003g0190 others(65): Show |
69 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.-38+5992dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24282778 | ||||||
chr22:24282778 | A | ATT | 6 | a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 others(3): Show |
6 | HG01069.hp1 HG01109.hp2 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.-38+5991_-38+5992d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24282778 | ||||||
chr22:24282778 | AT | A | 6 | a0001c0001t0001g0298 a0001c0001t0002g0076 a0001c0001t0003g0141 others(3): Show |
6 | HG01070.hp2 HG02280.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-38+5992delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24282778 | ||||||
chr22:24282887 | C | T | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-38+6084C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282887 | |||||||
chr22:24282976 | C | T | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-38+6173C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282976 | |||||||
chr22:24282977 | C | G | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-38+6174C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24282977 | |||||||
chr22:24283137 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+6334A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283137 | |||||||
chr22:24283194 | T | C | 1 | a0001c0002t0010g0090 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.-38+6391T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283194 | |||||||
chr22:24283215 | A | G | 7 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(4): Show |
7 | NA18941.hp1 NA18948.hp2 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.-38+6412A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283215 | |||||||
chr22:24283235 | T | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-38+6432T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283235 | |||||||
chr22:24283239 | C | T | 9 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(6): Show |
9 | HG02074.hp1 HG02129.hp1 HG02155.hp2 others(6): Show |
intron_variant | MODIFIER | c.-38+6436C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283239 | |||||||
chr22:24283276 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+6473C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283276 | |||||||
chr22:24283279 | C | T | 1 | a0001c0001t0001g0280 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-38+6476C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283279 | |||||||
chr22:24283667 | T | C | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+6864T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283667 | |||||||
chr22:24283730 | A | G | 1 | a0001c0001t0004g0031 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.-38+6927A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283730 | |||||||
chr22:24283832 | T | A | 1 | a0001c0002t0002g0132 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-38+7029T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283832 | |||||||
chr22:24283939 | T | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-38+7136T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24283939 | |||||||
chr22:24284050 | T | C | 3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.-38+7247T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284050 | |||||||
chr22:24284094 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+7291A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284094 | |||||||
chr22:24284154 | A | T | 2 | a0001c0001t0001g0048 a0001c0001t0001g0233 |
2 | HG02015.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.-38+7351A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284154 | |||||||
chr22:24284228 | T | G | 2 | a0001c0001t0004g0015 a0001c0001t0004g0016 |
2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.-38+7425T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284228 | |||||||
chr22:24284592 | A | G | 321 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0046 others(318): Show |
322 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(319): Show |
intron_variant | MODIFIER | c.-38+7789A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284592 | |||||||
chr22:24284595 | C | T | 1 | a0001c0001t0004g0030 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-38+7792C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284595 | |||||||
chr22:24284680 | C | T | 1 | a0001c0002t0002g0131 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.-38+7877C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24284680 | |||||||
chr22:24285290 | T | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.-38+8487T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285290 | |||||||
chr22:24285314 | A | C | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-38+8511A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285314 | |||||||
chr22:24285369 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+8566A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285369 | |||||||
chr22:24285403 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.-38+8600C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285403 | |||||||
chr22:24285587 | C | T | 78 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(75): Show |
79 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.-38+8784C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285587 | |||||||
chr22:24285591 | G | T | 1 | a0001c0001t0001g0245 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-38+8788G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285591 | |||||||
chr22:24285611 | T | C | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.-38+8808T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285611 | |||||||
chr22:24285629 | T | G | 1 | a0001c0001t0001g0307 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.-38+8826T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285629 | |||||||
chr22:24285637 | T | G | 5 | a0001c0001t0001g0324 a0001c0001t0007g0286 a0001c0002t0002g0139 others(2): Show |
5 | HG02615.hp1 HG02622.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-38+8834T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285637 | |||||||
chr22:24285640 | G | GTTGTT | 28 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(25): Show |
28 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+8850_-38+8854d others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24285640 | ||||||
chr22:24285640 | G | T | 2 | a0001c0001t0035g0011 a0006c0006t0019g0069 |
2 | HG02738.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-38+8837G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285640 | |||||||
chr22:24285699 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-38+8896A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285699 | |||||||
chr22:24285722 | C | T | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.-38+8919C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285722 | |||||||
chr22:24285830 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-38+9027C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285830 | |||||||
chr22:24285931 | C | T | 1 | a0001c0001t0001g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.-38+9128C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285931 | |||||||
chr22:24285942 | C | T | 2 | a0001c0002t0002g0139 a0001c0002t0002g0194 |
2 | HG02615.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-38+9139C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24285942 | |||||||
chr22:24286013 | A | G | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-38+9210A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286013 | |||||||
chr22:24286047 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-38+9244A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286047 | |||||||
chr22:24286052 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+9249C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286052 | |||||||
chr22:24286370 | G | T | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-38+9567G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286370 | |||||||
chr22:24286718 | G | A | 8 | a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 others(5): Show |
8 | HG02145.hp2 HG02559.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-38+9915G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286718 | |||||||
chr22:24286728 | C | T | 1 | a0001c0002t0002g0198 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-38+9925C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24286728 | |||||||
chr22:24287043 | G | A | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-38+10240G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287043 | |||||||
chr22:24287085 | A | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-38+10282A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287085 | |||||||
chr22:24287101 | G | C | 5 | a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 others(2): Show |
5 | HG01069.hp1 HG01109.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.-38+10298G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287101 | |||||||
chr22:24287172 | G | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+10369G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287172 | |||||||
chr22:24287184 | C | T | 2 | a0003c0005t0001g0287 a0003c0005t0001g0288 |
2 | HG00609.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.-38+10381C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287184 | |||||||
chr22:24287219 | G | T | 1 | a0001c0001t0001g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.-38+10416G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287219 | |||||||
chr22:24287242 | T | C | 9 | a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 others(6): Show |
9 | HG01070.hp2 HG02145.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.-38+10439T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287242 | |||||||
chr22:24287529 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+10726A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287529 | |||||||
chr22:24287658 | G | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+10855G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287658 | |||||||
chr22:24287682 | A | G | 3 | a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0020g0138 |
3 | HG02615.hp1 HG02622.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-38+10879A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287682 | |||||||
chr22:24287692 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-38+10889C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287692 | |||||||
chr22:24287754 | C | T | 1 | a0001c0002t0018g0130 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-38+10951C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287754 | |||||||
chr22:24287763 | T | A | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-38+10960T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287763 | |||||||
chr22:24287795 | A | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.-38+10992A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287795 | |||||||
chr22:24287812 | T | G | 1 | a0001c0002t0002g0093 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-38+11009T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287812 | |||||||
chr22:24287873 | C | G | 1 | a0001c0002t0002g0132 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-38+11070C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24287873 | |||||||
chr22:24288090 | C | T | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.-38+11287C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288090 | |||||||
chr22:24288157 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-38+11354C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288157 | |||||||
chr22:24288495 | C | A | 1 | a0001c0001t0001g0201 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.-38+11692C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288495 | |||||||
chr22:24288543 | T | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-38+11740T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288543 | |||||||
chr22:24288615 | C | CT | 66 | a0001c0001t0001g0010 a0001c0001t0001g0048 a0001c0001t0001g0051 others(63): Show |
66 | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.-38+11841dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTT | 15 | a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0254 others(12): Show |
15 | HG00323.hp1 HG00673.hp1 HG00673.hp2 others(12): Show |
intron_variant | MODIFIER | c.-38+11840_-38+1184 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTT | 6 | a0001c0001t0001g0232 a0001c0001t0003g0197 a0001c0001t0009g0083 others(3): Show |
6 | HG00140.hp1 HG01884.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.-38+11839_-38+1184 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0004g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.-38+11832_-38+1184 others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(4): Show |
1 | a0001c0001t0004g0030 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-38+11831_-38+1184 others(15): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(5): Show |
2 | a0001c0001t0004g0023 a0001c0001t0004g0065 |
2 | NA18947.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.-38+11830_-38+1184 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(6): Show |
2 | a0001c0001t0004g0024 a0001c0001t0036g0034 |
2 | HG02080.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.-38+11829_-38+1184 others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(7): Show |
2 | a0001c0001t0004g0031 a0001c0001t0015g0025 |
2 | NA18939.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.-38+11828_-38+1184 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(8): Show |
1 | a0001c0001t0015g0026 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.-38+11827_-38+1184 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(9): Show |
1 | a0001c0001t0004g0068 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-38+11826_-38+1184 others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0004g0027 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.-38+11824_-38+1184 others(22): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(13): Show |
1 | a0001c0001t0004g0035 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.-38+11822_-38+1184 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(14): Show |
2 | a0001c0001t0004g0015 a0001c0001t0004g0028 |
2 | NA18968.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.-38+11821_-38+1184 others(25): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(18): Show |
1 | a0001c0001t0004g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-38+11817_-38+1184 others(29): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | C | CTTTTTTT others(25): Show |
1 | a0001c0001t0004g0029 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-38+11841_-38+1184 others(36): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CT | C | 12 | a0001c0001t0001g0053 a0001c0001t0001g0202 a0001c0001t0002g0295 others(9): Show |
12 | HG01070.hp2 HG01167.hp1 HG02056.hp1 others(9): Show |
intron_variant | MODIFIER | c.-38+11841delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTT | C | 7 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(4): Show |
7 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.-38+11840_-38+1184 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTTTTT | C | 24 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0002g0001 others(21): Show |
25 | HG01123.hp1 HG01175.hp1 HG01192.hp1 others(22): Show |
intron_variant | MODIFIER | c.-38+11837_-38+1184 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTTTTTT | C | 46 | a0001c0001t0035g0011 a0001c0002t0002g0003 a0001c0002t0002g0005 others(43): Show |
46 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.-38+11836_-38+1184 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTTTTTTT others(3): Show |
C | 10 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(7): Show |
10 | HG01243.hp1 HG02572.hp2 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.-38+11832_-38+1184 others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTTTTTTT others(4): Show |
C | 2 | a0001c0001t0001g0052 a0001c0001t0001g0262 |
2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.-38+11831_-38+1184 others(15): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288615 | CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0006g0143 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.-38+11827_-38+1184 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24288615 | ||||||
chr22:24288747 | T | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-38+11944T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288747 | |||||||
chr22:24288785 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+11982T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288785 | |||||||
chr22:24288786 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+11983T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288786 | |||||||
chr22:24288787 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+11984G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288787 | |||||||
chr22:24288801 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+11998C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288801 | |||||||
chr22:24288812 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12009G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288812 | |||||||
chr22:24288815 | G | T | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-38+12012G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288815 | |||||||
chr22:24288825 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12022C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288825 | |||||||
chr22:24288828 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12025G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288828 | |||||||
chr22:24288845 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12042T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288845 | |||||||
chr22:24288846 | G | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12043G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288846 | |||||||
chr22:24288870 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12067T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288870 | |||||||
chr22:24288871 | G | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12068G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288871 | |||||||
chr22:24288875 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12072T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288875 | |||||||
chr22:24288876 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12073G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288876 | |||||||
chr22:24288903 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12100C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288903 | |||||||
chr22:24288912 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12109T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288912 | |||||||
chr22:24288913 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12110T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288913 | |||||||
chr22:24288919 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12116C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288919 | |||||||
chr22:24288920 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12117A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288920 | |||||||
chr22:24288952 | TACATTGT others(3347): Show |
T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-38+12150_-37-9889 others(3): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24288952 | |||||||
chr22:24289020 | G | A | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-38+12217G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289020 | |||||||
chr22:24289072 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-38+12269A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289072 | |||||||
chr22:24289224 | G | A | 1 | a0001c0001t0002g0077 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-38+12421G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289224 | |||||||
chr22:24289276 | G | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-38+12473G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289276 | |||||||
chr22:24289347 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.-38+12544C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289347 | |||||||
chr22:24289384 | C | T | 2 | a0001c0001t0002g0076 a0001c0001t0002g0079 |
2 | HG02818.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.-38+12581C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289384 | |||||||
chr22:24289452 | A | G | 2 | a0001c0002t0011g0111 a0001c0002t0011g0122 |
2 | NA19077.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.-38+12649A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289452 | |||||||
chr22:24289490 | TAGAA | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-38+12692_-38+1269 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24289490 | ||||||
chr22:24289698 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-12497T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289698 | |||||||
chr22:24289801 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-12394T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289801 | |||||||
chr22:24289875 | G | T | 1 | a0001c0002t0001g0037 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-37-12320G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289875 | |||||||
chr22:24289909 | G | A | 1 | a0001c0001t0009g0082 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-37-12286G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289909 | |||||||
chr22:24289924 | A | C | 1 | a0001c0001t0001g0324 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-37-12271A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24289924 | |||||||
chr22:24290070 | A | G | 15 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(12): Show |
15 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(12): Show |
intron_variant | MODIFIER | c.-37-12125A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290070 | |||||||
chr22:24290115 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-37-12080A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290115 | |||||||
chr22:24290122 | CG | C | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.-37-12072delG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290122 | |||||||
chr22:24290374 | A | G | 1 | a0008c0010t0001g0056 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.-37-11821A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290374 | |||||||
chr22:24290758 | T | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-11437T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290758 | |||||||
chr22:24290887 | C | G | 1 | a0001c0001t0007g0256 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-37-11308C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290887 | |||||||
chr22:24290929 | CAT | C | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.-37-11265_-37-1126 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290929 | |||||||
chr22:24290964 | T | TTA | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-11230_-37-1122 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24290964 | ||||||
chr22:24290994 | T | C | 1 | a0001c0001t0003g0159 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.-37-11201T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24290994 | |||||||
chr22:24291009 | G | C | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-37-11186G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291009 | |||||||
chr22:24291089 | C | T | 1 | a0001c0001t0009g0193 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.-37-11106C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291089 | |||||||
chr22:24291139 | A | G | 1 | a0001c0001t0012g0323 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-37-11056A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291139 | |||||||
chr22:24291272 | C | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-10923C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291272 | |||||||
chr22:24291337 | G | T | 1 | a0001c0001t0003g0185 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.-37-10858G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291337 | |||||||
chr22:24291350 | T | C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-37-10845T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291350 | |||||||
chr22:24291384 | C | G | 1 | a0001c0001t0002g0296 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-37-10811C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291384 | |||||||
chr22:24291502 | CTAA | C | 62 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(59): Show |
62 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.-37-10690_-37-1068 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24291502 | ||||||
chr22:24291927 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-10268G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291927 | |||||||
chr22:24291955 | A | G | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-37-10240A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24291955 | |||||||
chr22:24292099 | G | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-37-10096G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292099 | |||||||
chr22:24292307 | G | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9888G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292307 | |||||||
chr22:24292309 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9886G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292309 | |||||||
chr22:24292326 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9869A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292326 | |||||||
chr22:24292327 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9868C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292327 | |||||||
chr22:24292339 | G | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9856G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292339 | |||||||
chr22:24292344 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9851T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292344 | |||||||
chr22:24292345 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9850G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292345 | |||||||
chr22:24292351 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9844A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292351 | |||||||
chr22:24292387 | T | C | 1 | a0001c0001t0016g0054 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-37-9808T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292387 | |||||||
chr22:24292489 | T | C | 4 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0276 others(1): Show |
4 | HG02055.hp2 HG02965.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.-37-9706T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292489 | |||||||
chr22:24292490 | C | G | 1 | a0007c0011t0005g0317 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-37-9705C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292490 | |||||||
chr22:24292523 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9672C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292523 | |||||||
chr22:24292688 | T | C | 13 | a0001c0001t0001g0233 a0001c0001t0001g0264 a0001c0001t0005g0004 others(10): Show |
13 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.-37-9507T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292688 | |||||||
chr22:24292702 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-9493G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292702 | |||||||
chr22:24292734 | A | G | 1 | a0001c0001t0026g0231 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.-37-9461A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292734 | |||||||
chr22:24292875 | T | C | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-37-9320T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292875 | |||||||
chr22:24292892 | G | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9303G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292892 | |||||||
chr22:24292900 | C | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9295C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292900 | |||||||
chr22:24292905 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9290G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292905 | |||||||
chr22:24292921 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9274A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292921 | |||||||
chr22:24292960 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9235C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292960 | |||||||
chr22:24292984 | T | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9211T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292984 | |||||||
chr22:24292985 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9210G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292985 | |||||||
chr22:24292986 | A | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9209A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24292986 | |||||||
chr22:24293000 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9195G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293000 | |||||||
chr22:24293015 | G | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9180G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293015 | |||||||
chr22:24293039 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9156G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293039 | |||||||
chr22:24293046 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9149A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293046 | |||||||
chr22:24293115 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9080A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293115 | |||||||
chr22:24293119 | A | G | 3 | a0001c0001t0004g0035 a0001c0001t0015g0025 a0001c0001t0015g0026 |
3 | NA18939.hp1 NA18955.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.-37-9076A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293119 | |||||||
chr22:24293182 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-9013A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293182 | |||||||
chr22:24293191 | C | A | 1 | a0001c0001t0009g0082 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-37-9004C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293191 | |||||||
chr22:24293210 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8985C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293210 | |||||||
chr22:24293221 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8974C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293221 | |||||||
chr22:24293230 | C | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8965C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293230 | |||||||
chr22:24293232 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8963A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293232 | |||||||
chr22:24293237 | T | C | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8958T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293237 | |||||||
chr22:24293238 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8957G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293238 | |||||||
chr22:24293241 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8954G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293241 | |||||||
chr22:24293297 | A | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-8898A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293297 | |||||||
chr22:24293377 | C | T | 2 | a0001c0001t0001g0233 a0006c0006t0019g0069 |
2 | HG02015.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.-37-8818C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293377 | |||||||
chr22:24293379 | G | A | 2 | a0001c0001t0001g0233 a0006c0006t0019g0069 |
2 | HG02015.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.-37-8816G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293379 | |||||||
chr22:24293474 | G | A | 2 | a0001c0001t0001g0233 a0006c0006t0019g0069 |
2 | HG02015.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.-37-8721G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293474 | |||||||
chr22:24293548 | T | C | 3 | a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0007g0286 |
3 | HG02015.hp1 HG02970.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.-37-8647T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293548 | |||||||
chr22:24293704 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-8491C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293704 | |||||||
chr22:24293798 | G | A | 1 | a0001c0002t0002g0094 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-37-8397G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293798 | |||||||
chr22:24293842 | T | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-8353T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293842 | |||||||
chr22:24293874 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-8321T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24293874 | |||||||
chr22:24294097 | A | T | 1 | a0001c0002t0018g0130 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-37-8098A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294097 | |||||||
chr22:24294212 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-7983A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294212 | |||||||
chr22:24294277 | T | G | 2 | a0003c0005t0001g0287 a0003c0005t0001g0288 |
2 | HG00609.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.-37-7918T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294277 | |||||||
chr22:24294384 | C | CT | 14 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(11): Show |
14 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.-37-7796dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24294384 | ||||||
chr22:24294395 | TTTTTG | T | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7799_-37-7795d others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294395 | |||||||
chr22:24294410 | C | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-37-7785C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294410 | |||||||
chr22:24294420 | T | C | 7 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(4): Show |
7 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.-37-7775T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294420 | |||||||
chr22:24294444 | C | T | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7751C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294444 | |||||||
chr22:24294476 | G | A | 1 | a0001c0002t0001g0037 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-37-7719G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294476 | |||||||
chr22:24294478 | T | C | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7717T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294478 | |||||||
chr22:24294484 | C | T | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7711C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294484 | |||||||
chr22:24294491 | T | C | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7704T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294491 | |||||||
chr22:24294507 | A | G | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7688A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294507 | |||||||
chr22:24294538 | C | T | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7657C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294538 | |||||||
chr22:24294618 | C | A | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7577C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294618 | |||||||
chr22:24294619 | T | G | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-7576T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294619 | |||||||
chr22:24294658 | G | C | 1 | a0001c0001t0003g0158 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-37-7537G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294658 | |||||||
chr22:24294674 | G | T | 58 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(55): Show |
58 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(55): Show |
intron_variant | MODIFIER | c.-37-7521G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294674 | |||||||
chr22:24294703 | C | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-7492C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294703 | |||||||
chr22:24294764 | T | C | 1 | a0001c0001t0023g0267 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-37-7431T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294764 | |||||||
chr22:24294882 | G | A | 15 | a0001c0002t0002g0039 a0001c0002t0002g0088 a0001c0002t0002g0096 others(12): Show |
15 | HG00408.hp2 HG02056.hp2 NA18944.hp1 others(12): Show |
intron_variant | MODIFIER | c.-37-7313G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294882 | |||||||
chr22:24294891 | C | T | 4 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show |
4 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.-37-7304C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24294891 | |||||||
chr22:24295000 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-7195T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295000 | |||||||
chr22:24295240 | T | A | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.-37-6955T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295240 | |||||||
chr22:24295254 | T | C | 1 | a0002c0003t0002g0095 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-37-6941T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295254 | |||||||
chr22:24295268 | A | G | 9 | a0001c0001t0003g0043 a0001c0001t0003g0151 a0001c0001t0003g0152 others(6): Show |
9 | HG00323.hp2 HG01070.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.-37-6927A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295268 | |||||||
chr22:24295390 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-37-6805G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295390 | |||||||
chr22:24295440 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-37-6755G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295440 | |||||||
chr22:24295674 | C | G | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-37-6521C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295674 | |||||||
chr22:24295723 | T | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-6472T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295723 | |||||||
chr22:24295781 | C | G | 4 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show |
4 | HG01109.hp1 HG02486.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-37-6414C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295781 | |||||||
chr22:24295809 | G | A | 1 | a0001c0001t0004g0032 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-37-6386G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295809 | |||||||
chr22:24295841 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-6354G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295841 | |||||||
chr22:24295939 | A | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-6256A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24295939 | |||||||
chr22:24296033 | G | T | 2 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.-37-6162G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296033 | |||||||
chr22:24296154 | A | G | 1 | a0001c0001t0016g0054 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-37-6041A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296154 | |||||||
chr22:24296162 | C | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-6033C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296162 | |||||||
chr22:24296164 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-37-6031G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296164 | |||||||
chr22:24296180 | G | C | 3 | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0024g0205 |
3 | NA18959.hp1 NA18990.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.-37-6015G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296180 | |||||||
chr22:24296251 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.-37-5944T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296251 | |||||||
chr22:24296281 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.-37-5914T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296281 | |||||||
chr22:24296305 | T | C | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.-37-5890T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296305 | |||||||
chr22:24296309 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-5886G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296309 | |||||||
chr22:24296382 | A | G | 1 | a0001c0001t0001g0290 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-37-5813A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296382 | |||||||
chr22:24296388 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-5807A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296388 | |||||||
chr22:24296404 | A | G | 2 | a0002c0003t0002g0103 a0002c0003t0002g0116 |
2 | NA18945.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.-37-5791A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296404 | |||||||
chr22:24296482 | G | A | 15 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0028 others(12): Show |
15 | HG02965.hp2 HG03654.hp2 HG03834.hp2 others(12): Show |
intron_variant | MODIFIER | c.-37-5713G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296482 | |||||||
chr22:24296676 | G | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.-37-5519G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296676 | |||||||
chr22:24296746 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-5449C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296746 | |||||||
chr22:24296847 | G | A | 1 | a0001c0001t0001g0268 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-37-5348G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296847 | |||||||
chr22:24296861 | G | A | 3 | a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 |
3 | NA18973.hp1 NA19011.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-37-5334G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24296861 | |||||||
chr22:24296947 | C | CT | 11 | a0001c0001t0001g0240 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.-37-5234dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24296947 | ||||||
chr22:24297030 | G | A | 1 | a0001c0001t0001g0203 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.-37-5165G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297030 | |||||||
chr22:24297092 | C | T | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.-37-5103C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297092 | |||||||
chr22:24297209 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-4986A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297209 | |||||||
chr22:24297325 | T | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-4870T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297325 | |||||||
chr22:24297557 | C | T | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-4638C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297557 | |||||||
chr22:24297603 | C | T | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-37-4592C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297603 | |||||||
chr22:24297610 | C | T | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.-37-4585C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297610 | |||||||
chr22:24297709 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-4486C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297709 | |||||||
chr22:24297710 | G | A | 1 | a0001c0001t0003g0162 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-37-4485G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297710 | |||||||
chr22:24297727 | G | C | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.-37-4468G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297727 | |||||||
chr22:24297783 | G | A | 1 | a0001c0002t0002g0291 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.-37-4412G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297783 | |||||||
chr22:24297804 | T | G | 27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
27 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(24): Show |
intron_variant | MODIFIER | c.-37-4391T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297804 | |||||||
chr22:24297887 | C | T | 3 | a0001c0001t0006g0142 a0001c0001t0006g0176 a0001c0001t0006g0177 |
3 | NA18941.hp2 NA18986.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.-37-4308C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297887 | |||||||
chr22:24297891 | G | T | 3 | a0001c0001t0006g0142 a0001c0001t0006g0176 a0001c0001t0006g0177 |
3 | NA18941.hp2 NA18986.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.-37-4304G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24297891 | |||||||
chr22:24298017 | T | A | 1 | a0001c0001t0001g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-37-4178T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298017 | |||||||
chr22:24298019 | G | A | 1 | a0001c0001t0001g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-37-4176G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298019 | |||||||
chr22:24298081 | A | G | 4 | a0001c0002t0002g0040 a0001c0002t0002g0094 a0001c0002t0002g0115 others(1): Show |
4 | HG01123.hp1 HG01192.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.-37-4114A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298081 | |||||||
chr22:24298093 | T | G | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-37-4102T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298093 | |||||||
chr22:24298104 | G | T | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-37-4091G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298104 | |||||||
chr22:24298110 | A | C | 1 | a0001c0001t0009g0084 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-37-4085A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298110 | |||||||
chr22:24298118 | A | G | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.-37-4077A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298118 | |||||||
chr22:24298448 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-37-3747T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298448 | |||||||
chr22:24298475 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-3720G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298475 | |||||||
chr22:24298727 | C | T | 1 | a0001c0001t0003g0186 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-37-3468C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298727 | |||||||
chr22:24298746 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-3449T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298746 | |||||||
chr22:24298863 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-37-3332G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298863 | |||||||
chr22:24298974 | A | G | 1 | a0001c0001t0002g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-37-3221A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24298974 | |||||||
chr22:24299267 | T | G | 1 | a0001c0001t0001g0233 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-37-2928T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299267 | |||||||
chr22:24299270 | A | T | 1 | a0001c0001t0001g0273 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-37-2925A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299270 | |||||||
chr22:24299287 | G | A | 2 | a0001c0001t0001g0204 a0001c0009t0034g0067 |
2 | HG01070.hp2 NA18959.hp1 |
intron_variant | MODIFIER | c.-37-2908G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299287 | |||||||
chr22:24299330 | G | A | 70 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(67): Show |
71 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.-37-2865G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299330 | |||||||
chr22:24299436 | C | CA | 4 | a0001c0001t0004g0030 a0001c0002t0002g0093 a0001c0002t0010g0104 others(1): Show |
4 | HG02071.hp1 HG02738.hp1 NA18946.hp1 others(1): Show |
intron_variant | MODIFIER | c.-37-2752dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24299436 | ||||||
chr22:24299444 | C | T | 9 | a0001c0002t0002g0001 a0001c0002t0002g0066 a0001c0002t0002g0123 others(6): Show |
10 | NA18964.hp2 NA18968.hp2 NA18987.hp1 others(7): Show |
intron_variant | MODIFIER | c.-37-2751C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299444 | |||||||
chr22:24299465 | G | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.-37-2730G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299465 | |||||||
chr22:24299473 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.-37-2722T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299473 | |||||||
chr22:24299475 | G | A | 3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.-37-2720G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299475 | |||||||
chr22:24299492 | C | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-37-2703C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299492 | |||||||
chr22:24299496 | G | A | 1 | a0001c0002t0002g0096 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-37-2699G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299496 | |||||||
chr22:24299500 | T | C | 7 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(4): Show |
7 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.-37-2695T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299500 | |||||||
chr22:24299571 | C | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-2624C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299571 | |||||||
chr22:24299702 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-2493G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299702 | |||||||
chr22:24299702 | GT | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.-37-2483delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24299702 | ||||||
chr22:24299791 | A | G | 1 | a0001c0001t0001g0237 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-37-2404A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299791 | |||||||
chr22:24299801 | T | G | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.-37-2394T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299801 | |||||||
chr22:24299829 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-37-2366G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299829 | |||||||
chr22:24299862 | T | C | 1 | a0001c0001t0004g0029 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-37-2333T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24299862 | |||||||
chr22:24300044 | T | C | 1 | a0001c0001t0003g0182 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-37-2151T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300044 | |||||||
chr22:24300135 | G | A | 1 | a0001c0001t0002g0295 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-37-2060G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300135 | |||||||
chr22:24300157 | C | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.-37-2038C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300157 | |||||||
chr22:24300186 | C | G | 4 | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 others(1): Show |
4 | HG00140.hp2 HG02735.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.-37-2009C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300186 | |||||||
chr22:24300190 | T | C | 1 | a0001c0001t0008g0299 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-37-2005T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300190 | |||||||
chr22:24300208 | C | T | 1 | a0001c0001t0001g0230 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-37-1987C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300208 | |||||||
chr22:24300429 | G | T | 2 | a0001c0001t0001g0271 a0001c0001t0001g0272 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.-37-1766G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300429 | |||||||
chr22:24300547 | A | G | 1 | a0001c0001t0012g0322 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-37-1648A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300547 | |||||||
chr22:24300593 | G | A | 8 | a0001c0001t0004g0021 a0001c0001t0004g0028 a0001c0001t0004g0029 others(5): Show |
8 | NA18939.hp1 NA18945.hp1 NA18955.hp2 others(5): Show |
intron_variant | MODIFIER | c.-37-1602G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300593 | |||||||
chr22:24300626 | C | T | 5 | a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 others(2): Show |
5 | HG01069.hp1 HG01109.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.-37-1569C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300626 | |||||||
chr22:24300654 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-1541A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300654 | |||||||
chr22:24300663 | A | G | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-37-1532A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300663 | |||||||
chr22:24300817 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-1378C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300817 | |||||||
chr22:24300854 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-37-1341T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24300854 | |||||||
chr22:24301226 | G | C | 1 | a0001c0001t0001g0237 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-37-969G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301226 | |||||||
chr22:24301345 | T | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.-37-850T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301345 | |||||||
chr22:24301545 | C | G | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-37-650C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301545 | |||||||
chr22:24301572 | C | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-37-623C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301572 | |||||||
chr22:24301776 | G | A | 1 | a0001c0001t0002g0283 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-37-419G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301776 | |||||||
chr22:24301789 | G | A | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.-37-406G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301789 | |||||||
chr22:24301818 | G | T | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-37-377G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301818 | |||||||
chr22:24301933 | C | A | 7 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(4): Show |
7 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.-37-262C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24301933 | |||||||
chr22:24302045 | CA | C | 11 | a0001c0001t0001g0224 a0001c0001t0002g0072 a0001c0001t0002g0073 others(8): Show |
11 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-135delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 24302045 | ||||||
chr22:24302060 | A | T | 4 | a0001c0001t0001g0251 a0001c0001t0014g0012 a0001c0001t0014g0013 others(1): Show |
4 | HG00741.hp1 HG02572.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-37-135A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24302060 | |||||||
chr22:24302061 | T | A | 11 | a0001c0001t0001g0207 a0001c0001t0001g0249 a0001c0001t0005g0004 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.-37-134T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | chr22 | 24302061 | |||||||
chr22:24302851 | C | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.153+467C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24302851 | |||||||
chr22:24302941 | A | G | 1 | a0001c0001t0003g0150 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.153+557A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24302941 | |||||||
chr22:24303018 | TAGATG | T | 5 | a0001c0002t0002g0003 a0001c0002t0002g0092 a0001c0002t0002g0139 others(2): Show |
5 | HG02615.hp1 HG02622.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.153+639_153+643del others(5): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303018 | ||||||
chr22:24303099 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+715A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303099 | |||||||
chr22:24303207 | A | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.153+823A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303207 | |||||||
chr22:24303209 | GAACTTCC others(13): Show |
G | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.153+828_153+847del others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303209 | ||||||
chr22:24303303 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.153+919C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303303 | |||||||
chr22:24303340 | G | A | 1 | a0001c0002t0002g0132 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.153+956G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303340 | |||||||
chr22:24303844 | G | GGT | 65 | a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0048 others(62): Show |
65 | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(62): Show |
intron_variant | MODIFIER | c.153+1501_153+1502d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | G | GGTGT | 18 | a0001c0001t0001g0047 a0001c0001t0001g0233 a0001c0001t0001g0273 others(15): Show |
18 | HG00438.hp1 HG01515.hp1 HG02015.hp1 others(15): Show |
intron_variant | MODIFIER | c.153+1499_153+1502d others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | G | GGTGTGT | 8 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0276 others(5): Show |
8 | HG00544.hp2 HG02280.hp2 HG04115.hp2 others(5): Show |
intron_variant | MODIFIER | c.153+1497_153+1502d others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | G | GGTGTGTG others(1): Show |
3 | a0001c0001t0001g0002 a0001c0001t0002g0283 a0006c0006t0019g0069 |
3 | HG02738.hp1 HG02895.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.153+1495_153+1502d others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | G | GGTGTGTG others(3): Show |
2 | a0001c0001t0001g0223 a0001c0001t0004g0022 |
2 | HG04199.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.153+1493_153+1502d others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | G | GT | 4 | a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0275 others(1): Show |
4 | HG01169.hp2 NA19010.hp2 NA19054.hp2 others(1): Show |
intron_variant | MODIFIER | c.153+1460_153+1461i others(3): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303844 | |||||||
chr22:24303844 | GGT | G | 67 | a0001c0001t0001g0057 a0001c0001t0001g0208 a0001c0001t0001g0209 others(64): Show |
67 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.153+1501_153+1502d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | GGTGT | G | 19 | a0001c0001t0001g0280 a0001c0001t0002g0072 a0001c0001t0002g0073 others(16): Show |
19 | HG01167.hp1 HG01192.hp2 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.153+1499_153+1502d others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | GGTGTGT | G | 69 | a0001c0001t0005g0004 a0001c0001t0014g0012 a0001c0001t0014g0013 others(66): Show |
70 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.153+1497_153+1502d others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | GGTGTGTG others(1): Show |
G | 10 | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0002g0297 others(7): Show |
10 | HG01891.hp1 HG02056.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.153+1495_153+1502d others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | GGTGTGTG others(3): Show |
G | 15 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00673.hp1 HG01109.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.153+1493_153+1502d others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303844 | GGTGTGTG others(9): Show |
G | 1 | a0001c0001t0002g0296 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.153+1487_153+1502d others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24303844 | ||||||
chr22:24303848 | T | G | 2 | a0001c0001t0003g0182 a0001c0001t0035g0011 |
2 | HG02155.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.153+1464T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24303848 | |||||||
chr22:24304188 | A | G | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.153+1804A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304188 | |||||||
chr22:24304240 | G | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.153+1856G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304240 | |||||||
chr22:24304443 | G | A | 1 | a0001c0001t0001g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.153+2059G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304443 | |||||||
chr22:24304734 | T | C | 9 | a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0281 others(6): Show |
9 | HG02145.hp2 HG02559.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.153+2350T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304734 | |||||||
chr22:24304855 | G | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.153+2471G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304855 | |||||||
chr22:24304886 | C | T | 73 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(70): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.153+2502C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24304886 | |||||||
chr22:24305014 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+2630T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305014 | |||||||
chr22:24305085 | G | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.153+2701G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305085 | |||||||
chr22:24305254 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+2870G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305254 | |||||||
chr22:24305516 | A | T | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.153+3132A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305516 | |||||||
chr22:24305692 | G | A | 3 | a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0272 |
3 | HG01069.hp2 HG01071.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.153+3308G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305692 | |||||||
chr22:24305710 | C | G | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.153+3326C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305710 | |||||||
chr22:24305710 | C | T | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.153+3326C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305710 | |||||||
chr22:24305711 | G | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.153+3327G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305711 | |||||||
chr22:24305711 | G | C | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.153+3327G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305711 | |||||||
chr22:24305724 | A | G | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.153+3340A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305724 | |||||||
chr22:24305781 | T | C | 3 | a0001c0002t0002g0066 a0001c0002t0002g0123 a0001c0002t0002g0131 |
3 | NA18999.hp2 NA19006.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.153+3397T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305781 | |||||||
chr22:24305894 | C | G | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.153+3510C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305894 | |||||||
chr22:24305998 | C | T | 1 | a0001c0001t0006g0172 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.153+3614C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24305998 | |||||||
chr22:24306069 | C | T | 1 | a0001c0001t0001g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.153+3685C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306069 | |||||||
chr22:24306134 | C | T | 5 | a0001c0001t0001g0233 a0001c0001t0002g0072 a0001c0001t0002g0073 others(2): Show |
5 | HG02015.hp1 HG02145.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.153+3750C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306134 | |||||||
chr22:24306150 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+3766A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306150 | |||||||
chr22:24306168 | A | G | 1 | a0001c0001t0003g0148 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.153+3784A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306168 | |||||||
chr22:24306169 | A | C | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.153+3785A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306169 | |||||||
chr22:24306374 | T | TTAATTTT others(305): Show |
3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.153+4008_153+4009i others(314): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24306374 | ||||||
chr22:24306374 | T | TTAATTTT others(316): Show |
1 | a0001c0001t0004g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.153+4008_153+4009i others(325): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24306374 | ||||||
chr22:24306374 | T | TTAATTTT others(317): Show |
13 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(10): Show |
13 | HG00438.hp1 HG02080.hp1 NA18747.hp1 others(10): Show |
intron_variant | MODIFIER | c.153+4008_153+4009i others(326): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24306374 | ||||||
chr22:24306374 | T | TTAATTTT others(318): Show |
7 | a0001c0001t0004g0019 a0001c0001t0004g0027 a0001c0001t0004g0028 others(4): Show |
7 | NA18939.hp1 NA18968.hp1 NA19000.hp1 others(4): Show |
intron_variant | MODIFIER | c.153+4008_153+4009i others(327): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24306374 | ||||||
chr22:24306374 | T | TTAATTTT others(319): Show |
1 | a0001c0001t0004g0030 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.153+4008_153+4009i others(328): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24306374 | ||||||
chr22:24306422 | C | T | 1 | a0001c0001t0002g0073 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.153+4038C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306422 | |||||||
chr22:24306429 | G | A | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.153+4045G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306429 | |||||||
chr22:24306442 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.153+4058G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306442 | |||||||
chr22:24306481 | A | G | 1 | a0001c0002t0002g0126 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.153+4097A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306481 | |||||||
chr22:24306581 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+4197C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306581 | |||||||
chr22:24306657 | C | T | 6 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(3): Show |
6 | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.153+4273C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306657 | |||||||
chr22:24306844 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+4460C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306844 | |||||||
chr22:24306906 | A | C | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.153+4522A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306906 | |||||||
chr22:24306932 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.153+4548C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306932 | |||||||
chr22:24306960 | A | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.153+4576A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24306960 | |||||||
chr22:24307006 | G | T | 1 | a0001c0001t0002g0295 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.153+4622G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307006 | |||||||
chr22:24307155 | G | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.153+4771G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307155 | |||||||
chr22:24307158 | G | C | 2 | a0001c0001t0004g0015 a0001c0001t0004g0016 |
2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.153+4774G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307158 | |||||||
chr22:24307289 | C | A | 1 | a0001c0002t0002g0088 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.153+4905C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307289 | |||||||
chr22:24307302 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.153+4918A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307302 | |||||||
chr22:24307336 | A | G | 1 | a0001c0001t0009g0082 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.153+4952A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307336 | |||||||
chr22:24307457 | C | T | 3 | a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0022g0081 |
3 | HG02572.hp1 HG02615.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.153+5073C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307457 | |||||||
chr22:24307600 | A | AGT | 8 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(5): Show |
8 | HG02572.hp2 HG02717.hp1 HG02735.hp2 others(5): Show |
intron_variant | MODIFIER | c.153+5231_153+5232d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24307600 | ||||||
chr22:24307645 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.153+5261G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307645 | |||||||
chr22:24307740 | T | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.153+5356T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307740 | |||||||
chr22:24307817 | G | A | 2 | a0001c0001t0003g0163 a0001c0001t0003g0192 |
2 | HG02015.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.153+5433G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24307817 | |||||||
chr22:24307842 | A | AT | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.154-5460dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24307842 | ||||||
chr22:24308004 | A | AAGGACTA others(37): Show |
1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5309_154-5308i others(46): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308004 | |||||||
chr22:24308005 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5308T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308005 | |||||||
chr22:24308041 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5272T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308041 | |||||||
chr22:24308060 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5253G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308060 | |||||||
chr22:24308068 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5245G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308068 | |||||||
chr22:24308117 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5196A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308117 | |||||||
chr22:24308147 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5166A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308147 | |||||||
chr22:24308149 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5164A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308149 | |||||||
chr22:24308175 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5138A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308175 | |||||||
chr22:24308240 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5073T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308240 | |||||||
chr22:24308244 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5069A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308244 | |||||||
chr22:24308249 | C | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5064C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308249 | |||||||
chr22:24308262 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-5051A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308262 | |||||||
chr22:24308496 | A | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.154-4817A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308496 | |||||||
chr22:24308546 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4767G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308546 | |||||||
chr22:24308547 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4766T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308547 | |||||||
chr22:24308588 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.154-4725T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308588 | |||||||
chr22:24308591 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4722T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308591 | |||||||
chr22:24308592 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4721C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308592 | |||||||
chr22:24308610 | G | A | 1 | a0001c0002t0002g0115 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.154-4703G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308610 | |||||||
chr22:24308614 | C | T | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.154-4699C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308614 | |||||||
chr22:24308651 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.154-4662A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308651 | |||||||
chr22:24308654 | CT | C | 207 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(204): Show |
208 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(205): Show |
intron_variant | MODIFIER | c.154-4651delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24308654 | ||||||
chr22:24308715 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4598A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308715 | |||||||
chr22:24308727 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4586T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308727 | |||||||
chr22:24308735 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4578T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308735 | |||||||
chr22:24308764 | A | G | 1 | a0001c0001t0003g0158 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.154-4549A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308764 | |||||||
chr22:24308844 | T | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.154-4469T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308844 | |||||||
chr22:24308857 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4456T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308857 | |||||||
chr22:24308859 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4454G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308859 | |||||||
chr22:24308860 | A | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4453A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308860 | |||||||
chr22:24308885 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4428G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308885 | |||||||
chr22:24308996 | A | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4317A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308996 | |||||||
chr22:24308997 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4316T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24308997 | |||||||
chr22:24309003 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4310A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309003 | |||||||
chr22:24309004 | C | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4309C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309004 | |||||||
chr22:24309005 | G | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-4308G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309005 | |||||||
chr22:24309136 | G | GACAC | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.154-4164_154-4161d others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24309136 | ||||||
chr22:24309187 | A | G | 1 | a0007c0011t0005g0317 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.154-4126A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309187 | |||||||
chr22:24309195 | G | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154-4118G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309195 | |||||||
chr22:24309211 | A | G | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.154-4102A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309211 | |||||||
chr22:24309280 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.154-4033A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309280 | |||||||
chr22:24309417 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3896T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309417 | |||||||
chr22:24309418 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3895C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309418 | |||||||
chr22:24309423 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3890T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309423 | |||||||
chr22:24309428 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3885G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309428 | |||||||
chr22:24309443 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3870C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309443 | |||||||
chr22:24309614 | T | C | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.154-3699T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309614 | |||||||
chr22:24309650 | T | C | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.154-3663T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309650 | |||||||
chr22:24309654 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3659C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309654 | |||||||
chr22:24309677 | G | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3636G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309677 | |||||||
chr22:24309678 | C | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3635C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309678 | |||||||
chr22:24309708 | A | C | 1 | a0001c0001t0037g0220 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.154-3605A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309708 | |||||||
chr22:24309766 | C | T | 1 | a0001c0001t0037g0220 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.154-3547C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309766 | |||||||
chr22:24309810 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3503A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309810 | |||||||
chr22:24309855 | A | G | 1 | a0001c0001t0001g0002 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.154-3458A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24309855 | |||||||
chr22:24310026 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3287T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310026 | |||||||
chr22:24310028 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3285T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310028 | |||||||
chr22:24310090 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3223T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310090 | |||||||
chr22:24310151 | C | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.154-3162C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310151 | |||||||
chr22:24310192 | A | G | 27 | a0001c0001t0003g0140 a0001c0001t0003g0159 a0001c0001t0003g0160 others(24): Show |
27 | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.154-3121A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310192 | |||||||
chr22:24310261 | A | G | 1 | a0001c0001t0002g0061 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.154-3052A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310261 | |||||||
chr22:24310292 | A | G | 4 | a0001c0001t0006g0142 a0001c0001t0006g0170 a0001c0001t0006g0176 others(1): Show |
4 | HG00558.hp1 NA18941.hp2 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.154-3021A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310292 | |||||||
chr22:24310302 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-3011A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310302 | |||||||
chr22:24310330 | A | G | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.154-2983A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310330 | |||||||
chr22:24310361 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-2952T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310361 | |||||||
chr22:24310378 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.154-2935G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310378 | |||||||
chr22:24310601 | CTG | C | 4 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0195 others(1): Show |
4 | HG00609.hp1 HG00621.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.154-2698_154-2697d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24310601 | ||||||
chr22:24310619 | G | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154-2694G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310619 | |||||||
chr22:24310751 | T | G | 1 | a0001c0001t0001g0237 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.154-2562T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310751 | |||||||
chr22:24310778 | A | G | 1 | a0001c0001t0013g0292 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.154-2535A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310778 | |||||||
chr22:24310967 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-2346T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310967 | |||||||
chr22:24310977 | C | T | 5 | a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0141 others(2): Show |
5 | NA18944.hp2 NA18979.hp1 NA19002.hp1 others(2): Show |
intron_variant | MODIFIER | c.154-2336C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24310977 | |||||||
chr22:24311038 | C | G | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.154-2275C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311038 | |||||||
chr22:24311068 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.154-2245A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311068 | |||||||
chr22:24311091 | T | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.154-2222T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311091 | |||||||
chr22:24311144 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.154-2169T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311144 | |||||||
chr22:24311167 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.154-2146G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311167 | |||||||
chr22:24311350 | A | G | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.154-1963A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311350 | |||||||
chr22:24311375 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.154-1938A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311375 | |||||||
chr22:24311481 | G | A | 1 | a0001c0002t0002g0126 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.154-1832G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311481 | |||||||
chr22:24311580 | A | C | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.154-1733A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311580 | |||||||
chr22:24311620 | C | T | 1 | a0001c0001t0012g0321 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.154-1693C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311620 | |||||||
chr22:24311636 | C | T | 3 | a0001c0002t0002g0066 a0001c0002t0002g0123 a0001c0002t0002g0131 |
3 | NA18999.hp2 NA19006.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.154-1677C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311636 | |||||||
chr22:24311674 | G | T | 1 | a0001c0001t0001g0053 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.154-1639G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311674 | |||||||
chr22:24311804 | C | CA | 25 | a0001c0001t0001g0052 a0001c0001t0001g0204 a0001c0001t0001g0225 others(22): Show |
25 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.154-1485dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24311804 | ||||||
chr22:24311804 | CA | C | 15 | a0001c0001t0001g0047 a0001c0001t0001g0222 a0001c0001t0001g0307 others(12): Show |
15 | HG00639.hp1 HG01891.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.154-1485delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24311804 | ||||||
chr22:24311804 | CAAAAA | C | 10 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(7): Show |
10 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.154-1489_154-1485d others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 24311804 | ||||||
chr22:24311838 | C | T | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.154-1475C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311838 | |||||||
chr22:24311843 | C | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.154-1470C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311843 | |||||||
chr22:24311911 | T | G | 1 | a0001c0001t0007g0256 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.154-1402T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24311911 | |||||||
chr22:24312206 | C | A | 1 | a0001c0002t0002g0198 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.154-1107C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312206 | |||||||
chr22:24312214 | C | T | 1 | a0001c0001t0002g0283 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.154-1099C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312214 | |||||||
chr22:24312428 | G | A | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.154-885G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312428 | |||||||
chr22:24312466 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.154-847G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312466 | |||||||
chr22:24312524 | A | C | 1 | a0001c0001t0003g0185 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.154-789A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312524 | |||||||
chr22:24312595 | G | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.154-718G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312595 | |||||||
chr22:24312614 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.154-699A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312614 | |||||||
chr22:24312706 | T | C | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.154-607T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24312706 | |||||||
chr22:24313173 | G | T | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.154-140G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24313173 | |||||||
chr22:24313174 | T | G | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.154-139T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 3/16 | chr22 | 24313174 | |||||||
chr22:24313742 | C | CT | 50 | a0001c0001t0001g0010 a0001c0001t0001g0048 a0001c0001t0001g0057 others(47): Show |
50 | HG00438.hp1 HG00735.hp1 HG01070.hp2 others(47): Show |
intron_variant | MODIFIER | c.307+294dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24313742 | ||||||
chr22:24313742 | C | CTT | 13 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(10): Show |
13 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(10): Show |
intron_variant | MODIFIER | c.307+293_307+294dup others(2): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24313742 | ||||||
chr22:24313805 | C | G | 1 | a0001c0002t0010g0090 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.307+339C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24313805 | |||||||
chr22:24313923 | G | C | 3 | a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0028g0282 |
3 | HG02280.hp2 HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.307+457G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24313923 | |||||||
chr22:24313940 | T | C | 1 | a0001c0001t0001g0239 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.307+474T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24313940 | |||||||
chr22:24314018 | T | G | 3 | a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0022g0081 |
3 | HG02572.hp1 HG02615.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.307+552T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314018 | |||||||
chr22:24314053 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+587C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314053 | |||||||
chr22:24314063 | G | C | 1 | a0001c0001t0004g0036 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.307+597G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314063 | |||||||
chr22:24314296 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.307+830G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314296 | |||||||
chr22:24314493 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.307+1027A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314493 | |||||||
chr22:24314499 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+1033A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314499 | |||||||
chr22:24314550 | C | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.307+1084C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314550 | |||||||
chr22:24314596 | A | T | 2 | a0001c0001t0009g0082 a0001c0001t0009g0193 |
2 | HG01346.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.307+1130A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314596 | |||||||
chr22:24314613 | A | T | 1 | a0001c0001t0001g0053 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.307+1147A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24314613 | |||||||
chr22:24315229 | C | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.307+1763C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24315229 | |||||||
chr22:24315406 | G | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.307+1940G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24315406 | |||||||
chr22:24315433 | T | C | 1 | a0001c0001t0015g0025 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.307+1967T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24315433 | |||||||
chr22:24315614 | G | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.307+2148G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24315614 | |||||||
chr22:24316072 | C | T | 1 | a0001c0001t0001g0219 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.307+2606C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316072 | |||||||
chr22:24316264 | C | G | 1 | a0001c0001t0012g0322 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.307+2798C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316264 | |||||||
chr22:24316274 | T | TTTTA | 154 | a0001c0001t0001g0010 a0001c0001t0002g0293 a0001c0001t0002g0294 others(151): Show |
155 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(152): Show |
intron_variant | MODIFIER | c.307+2831_307+2834d others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316274 | ||||||
chr22:24316274 | T | TTTTATTT others(1): Show |
27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
27 | HG00438.hp1 HG02080.hp1 HG02572.hp2 others(24): Show |
intron_variant | MODIFIER | c.307+2827_307+2834d others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316274 | ||||||
chr22:24316274 | T | TTTTATTT others(9): Show |
1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.307+2819_307+2834d others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316274 | ||||||
chr22:24316274 | TTTTA | T | 19 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(16): Show |
19 | HG01243.hp1 HG01346.hp1 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.307+2831_307+2834d others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316274 | ||||||
chr22:24316435 | G | C | 1 | a0001c0002t0002g0005 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.307+2969G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316435 | |||||||
chr22:24316436 | T | C | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+2970T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316436 | |||||||
chr22:24316482 | G | T | 2 | a0001c0001t0036g0034 a0006c0006t0019g0069 |
2 | HG02738.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.307+3016G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316482 | |||||||
chr22:24316486 | G | C | 2 | a0001c0001t0003g0151 a0001c0001t0003g0189 |
2 | HG01358.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.307+3020G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316486 | |||||||
chr22:24316604 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3138C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316604 | |||||||
chr22:24316656 | T | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3190T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316656 | |||||||
chr22:24316676 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3210C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316676 | |||||||
chr22:24316677 | T | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.307+3211T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316677 | |||||||
chr22:24316694 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3228G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316694 | |||||||
chr22:24316735 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+3269C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316735 | |||||||
chr22:24316736 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3270C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316736 | |||||||
chr22:24316749 | A | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3283A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316749 | |||||||
chr22:24316754 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3288C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316754 | |||||||
chr22:24316755 | A | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.307+3289A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316755 | |||||||
chr22:24316763 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.307+3297C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316763 | |||||||
chr22:24316820 | GGGCAGAG others(696): Show |
G | 72 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(69): Show |
73 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.307+3408_308-3712d others(2): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316820 | ||||||
chr22:24316827 | GGGGCTCC others(695): Show |
G | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.307+3365_308-3756d others(2): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316827 | ||||||
chr22:24316833 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.307+3367C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316833 | |||||||
chr22:24316841 | C | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.307+3375C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316841 | |||||||
chr22:24316842 | C | T | 1 | a0001c0001t0001g0324 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.307+3376C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316842 | |||||||
chr22:24316880 | T | C | 136 | a0001c0001t0001g0010 a0001c0001t0002g0072 a0001c0001t0002g0073 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.307+3414T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316880 | |||||||
chr22:24316901 | C | T | 1 | a0001c0001t0003g0140 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.307+3435C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316901 | |||||||
chr22:24316902 | G | T | 5 | a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(2): Show |
intron_variant | MODIFIER | c.307+3436G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316902 | |||||||
chr22:24316916 | C | T | 2 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | NA18975.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.307+3450C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316916 | |||||||
chr22:24316931 | A | G | 121 | a0001c0001t0001g0010 a0001c0001t0002g0293 a0001c0001t0002g0294 others(118): Show |
121 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(118): Show |
intron_variant | MODIFIER | c.307+3465A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316931 | |||||||
chr22:24316952 | C | T | 3 | a0001c0001t0001g0307 a0001c0001t0001g0308 a0006c0006t0019g0069 |
3 | HG02738.hp1 NA18747.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.307+3486C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316952 | |||||||
chr22:24316957 | A | AGCTCCTC others(219): Show |
1 | a0001c0001t0001g0057 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.307+3542_307+3767d others(228): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24316957 | ||||||
chr22:24316957 | A | G | 121 | a0001c0001t0001g0010 a0001c0001t0002g0293 a0001c0001t0002g0294 others(118): Show |
121 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(118): Show |
intron_variant | MODIFIER | c.307+3491A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24316957 | |||||||
chr22:24317016 | G | C | 1 | a0001c0001t0001g0280 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.307+3550G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317016 | |||||||
chr22:24317044 | C | T | 2 | a0001c0001t0001g0216 a0001c0001t0001g0228 |
2 | NA19011.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.307+3578C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317044 | |||||||
chr22:24317062 | G | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.307+3596G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317062 | |||||||
chr22:24317075 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+3609G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317075 | |||||||
chr22:24317107 | T | C | 2 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | HG02280.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.307+3641T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317107 | |||||||
chr22:24317124 | T | C | 2 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | HG02280.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.307+3658T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317124 | |||||||
chr22:24317128 | CG | C | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.307+3668delG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24317128 | ||||||
chr22:24317142 | C | A | 1 | a0001c0001t0027g0217 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.307+3676C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317142 | |||||||
chr22:24317145 | T | C | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.307+3679T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317145 | |||||||
chr22:24317145 | T | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.307+3679T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317145 | |||||||
chr22:24317173 | T | C | 136 | a0001c0001t0001g0010 a0001c0001t0002g0072 a0001c0001t0002g0073 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.307+3707T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317173 | |||||||
chr22:24317205 | G | A | 2 | a0001c0001t0001g0048 a0001c0001t0001g0233 |
2 | HG02015.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.307+3739G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317205 | |||||||
chr22:24317207 | G | A | 4 | a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0141 others(1): Show |
4 | NA18944.hp2 NA18979.hp1 NA19065.hp2 others(1): Show |
intron_variant | MODIFIER | c.307+3741G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317207 | |||||||
chr22:24317221 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+3755G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317221 | |||||||
chr22:24317234 | C | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.307+3768C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317234 | |||||||
chr22:24317273 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.307+3807C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317273 | |||||||
chr22:24317314 | G | A | 1 | a0001c0001t0003g0043 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.307+3848G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317314 | |||||||
chr22:24317374 | C | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.307+3908C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317374 | |||||||
chr22:24317432 | CG | C | 7 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(4): Show |
7 | NA18941.hp1 NA18948.hp2 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.308-3850delG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24317432 | ||||||
chr22:24317500 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.308-3788C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317500 | |||||||
chr22:24317533 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.308-3755G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317533 | |||||||
chr22:24317560 | G | A | 73 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(70): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.308-3728G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317560 | |||||||
chr22:24317576 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.308-3712C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317576 | |||||||
chr22:24317583 | C | T | 1 | a0001c0001t0016g0054 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.308-3705C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317583 | |||||||
chr22:24317605 | G | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.308-3683G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317605 | |||||||
chr22:24317653 | C | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.308-3635C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317653 | |||||||
chr22:24317654 | G | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.308-3634G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317654 | |||||||
chr22:24317670 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.308-3618C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317670 | |||||||
chr22:24317730 | TGGCTGCC others(33): Show |
T | 2 | a0001c0001t0007g0255 a0001c0001t0007g0286 |
2 | HG02970.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.308-3551_308-3512d others(42): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 24317730 | ||||||
chr22:24317737 | C | T | 1 | a0001c0002t0002g0120 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.308-3551C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317737 | |||||||
chr22:24317765 | C | T | 1 | a0001c0001t0005g0310 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.308-3523C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317765 | |||||||
chr22:24317850 | C | T | 1 | a0001c0001t0001g0252 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.308-3438C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317850 | |||||||
chr22:24317851 | G | A | 1 | a0001c0001t0006g0143 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.308-3437G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317851 | |||||||
chr22:24317940 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.308-3348C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317940 | |||||||
chr22:24317947 | C | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.308-3341C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317947 | |||||||
chr22:24317967 | G | A | 1 | a0001c0001t0004g0024 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.308-3321G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317967 | |||||||
chr22:24317981 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.308-3307G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24317981 | |||||||
chr22:24318121 | G | GC | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.308-3167_308-3166i others(3): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318121 | |||||||
chr22:24318140 | A | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.308-3148A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318140 | |||||||
chr22:24318146 | G | C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.308-3142G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318146 | |||||||
chr22:24318168 | G | A | 2 | a0001c0001t0009g0082 a0001c0001t0009g0193 |
2 | HG01346.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.308-3120G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318168 | |||||||
chr22:24318239 | A | C | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.308-3049A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318239 | |||||||
chr22:24318248 | G | C | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.308-3040G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318248 | |||||||
chr22:24318386 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.308-2902C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318386 | |||||||
chr22:24318394 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.308-2894G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318394 | |||||||
chr22:24318414 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.308-2874G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318414 | |||||||
chr22:24318465 | G | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.308-2823G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318465 | |||||||
chr22:24318623 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.308-2665G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318623 | |||||||
chr22:24318648 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.308-2640G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318648 | |||||||
chr22:24318677 | T | C | 40 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(37): Show |
40 | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(37): Show |
intron_variant | MODIFIER | c.308-2611T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318677 | |||||||
chr22:24318746 | T | C | 2 | a0001c0001t0004g0015 a0001c0001t0004g0016 |
2 | NA18979.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.308-2542T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318746 | |||||||
chr22:24318822 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.308-2466G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318822 | |||||||
chr22:24318861 | A | G | 1 | a0001c0001t0006g0170 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.308-2427A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318861 | |||||||
chr22:24318914 | C | T | 2 | a0001c0001t0001g0218 a0001c0001t0001g0232 |
2 | HG00140.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.308-2374C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318914 | |||||||
chr22:24318934 | T | C | 1 | a0001c0001t0003g0044 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.308-2354T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318934 | |||||||
chr22:24318971 | G | C | 1 | a0001c0001t0001g0264 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.308-2317G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24318971 | |||||||
chr22:24319081 | A | G | 265 | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0050 others(262): Show |
266 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(263): Show |
intron_variant | MODIFIER | c.308-2207A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319081 | |||||||
chr22:24319122 | C | T | 2 | a0003c0005t0001g0287 a0003c0005t0001g0288 |
2 | HG00609.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.308-2166C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319122 | |||||||
chr22:24319126 | A | G | 1 | a0001c0001t0001g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.308-2162A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319126 | |||||||
chr22:24319318 | G | A | 2 | a0001c0002t0002g0003 a0001c0002t0002g0092 |
2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.308-1970G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319318 | |||||||
chr22:24319368 | A | G | 1 | a0001c0001t0012g0322 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.308-1920A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319368 | |||||||
chr22:24319652 | G | A | 1 | a0001c0001t0008g0299 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.308-1636G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319652 | |||||||
chr22:24319813 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.308-1475C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319813 | |||||||
chr22:24319830 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.308-1458C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24319830 | |||||||
chr22:24320029 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.308-1259G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320029 | |||||||
chr22:24320058 | G | C | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.308-1230G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320058 | |||||||
chr22:24320064 | A | G | 1 | a0001c0001t0012g0321 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.308-1224A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320064 | |||||||
chr22:24320146 | C | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.308-1142C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320146 | |||||||
chr22:24320318 | C | A | 6 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(3): Show |
6 | HG01952.hp1 HG01975.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.308-970C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320318 | |||||||
chr22:24320326 | A | G | 1 | a0001c0002t0002g0121 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.308-962A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320326 | |||||||
chr22:24320346 | A | G | 1 | a0001c0001t0009g0084 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.308-942A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320346 | |||||||
chr22:24320517 | A | G | 1 | a0001c0001t0003g0070 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.308-771A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320517 | |||||||
chr22:24320667 | T | C | 1 | a0001c0001t0001g0002 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.308-621T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320667 | |||||||
chr22:24320752 | A | T | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.308-536A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320752 | |||||||
chr22:24320913 | A | G | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.308-375A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24320913 | |||||||
chr22:24321017 | A | T | 1 | a0001c0001t0001g0238 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.308-271A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24321017 | |||||||
chr22:24321037 | A | G | 2 | a0001c0001t0003g0183 a0001c0001t0003g0184 |
2 | NA19054.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.308-251A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 4/16 | chr22 | 24321037 | |||||||
chr22:24323117 | C | G | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1938+199C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323117 | |||||||
chr22:24323146 | T | C | 3 | a0001c0001t0005g0004 a0001c0008t0005g0316 a0007c0011t0005g0317 |
3 | HG02559.hp2 HG02895.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1938+228T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323146 | |||||||
chr22:24323157 | A | G | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1938+239A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323157 | |||||||
chr22:24323216 | C | T | 1 | a0001c0001t0003g0180 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1938+298C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323216 | |||||||
chr22:24323321 | C | T | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1938+403C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323321 | |||||||
chr22:24323466 | G | T | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1938+548G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323466 | |||||||
chr22:24323516 | G | T | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1938+598G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323516 | |||||||
chr22:24323543 | A | G | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1938+625A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323543 | |||||||
chr22:24323578 | T | C | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.1939-642T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323578 | |||||||
chr22:24323637 | T | C | 78 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(75): Show |
79 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.1939-583T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323637 | |||||||
chr22:24323670 | A | G | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1939-550A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323670 | |||||||
chr22:24323768 | A | G | 1 | a0007c0011t0005g0317 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1939-452A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323768 | |||||||
chr22:24323879 | T | G | 1 | a0002c0003t0002g0095 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1939-341T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24323879 | |||||||
chr22:24324139 | A | C | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1939-81A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24324139 | |||||||
chr22:24324196 | A | G | 1 | a0001c0001t0002g0080 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1939-24A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 5/16 | chr22 | 24324196 | |||||||
chr22:24324562 | C | T | 1 | a0001c0001t0004g0020 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2146+135C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24324562 | |||||||
chr22:24325141 | T | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2146+714T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325141 | |||||||
chr22:24325277 | G | C | 1 | a0001c0001t0001g0201 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.2146+850G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325277 | |||||||
chr22:24325509 | T | G | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2146+1082T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325509 | |||||||
chr22:24325538 | G | GATTT | 34 | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0203 others(31): Show |
34 | HG00280.hp1 HG00621.hp1 HG00621.hp2 others(31): Show |
intron_variant | MODIFIER | c.2146+1150_2146+115 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325538 | G | GATTTATT others(1): Show |
7 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0223 others(4): Show |
7 | HG02080.hp2 HG02572.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.2146+1146_2146+115 others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325538 | GATTT | G | 78 | a0001c0001t0001g0211 a0001c0001t0001g0225 a0001c0001t0002g0072 others(75): Show |
78 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.2146+1150_2146+115 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325538 | GATTTATT others(1): Show |
G | 75 | a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 others(72): Show |
76 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.2146+1146_2146+115 others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325538 | GATTTATT others(5): Show |
G | 2 | a0001c0001t0002g0077 a0001c0001t0029g0009 |
2 | HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2146+1142_2146+115 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325538 | GATTTATT others(9): Show |
G | 1 | a0002c0003t0001g0038 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2146+1138_2146+115 others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24325538 | ||||||
chr22:24325569 | TTATTTAT others(5): Show |
T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2146+1143_2146+115 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325569 | |||||||
chr22:24325581 | A | T | 27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
27 | HG00438.hp1 HG02080.hp1 HG02572.hp2 others(24): Show |
intron_variant | MODIFIER | c.2146+1154A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325581 | |||||||
chr22:24325610 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2146+1183C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325610 | |||||||
chr22:24325862 | G | C | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2146+1435G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24325862 | |||||||
chr22:24326123 | T | G | 1 | a0001c0001t0004g0030 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2146+1696T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326123 | |||||||
chr22:24326459 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2146+2032C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326459 | |||||||
chr22:24326467 | C | A | 1 | a0001c0001t0001g0324 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2146+2040C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326467 | |||||||
chr22:24326489 | A | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2146+2062A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326489 | |||||||
chr22:24326599 | CTTG | C | 11 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(8): Show |
11 | HG00438.hp1 HG02080.hp1 NA18947.hp2 others(8): Show |
intron_variant | MODIFIER | c.2146+2177_2146+217 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24326599 | ||||||
chr22:24326652 | T | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2147-2194T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326652 | |||||||
chr22:24326735 | A | G | 1 | a0001c0002t0002g0109 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2147-2111A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326735 | |||||||
chr22:24326788 | T | C | 1 | a0003c0005t0001g0288 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2147-2058T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326788 | |||||||
chr22:24326805 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2147-2041A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326805 | |||||||
chr22:24326833 | G | T | 2 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | HG02280.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.2147-2013G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326833 | |||||||
chr22:24326847 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2147-1999C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24326847 | |||||||
chr22:24327013 | C | T | 1 | a0001c0001t0028g0282 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2147-1833C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327013 | |||||||
chr22:24327051 | G | A | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2147-1795G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327051 | |||||||
chr22:24327057 | A | G | 1 | a0001c0001t0028g0282 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2147-1789A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327057 | |||||||
chr22:24327106 | C | T | 1 | a0001c0002t0018g0130 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2147-1740C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327106 | |||||||
chr22:24327223 | A | G | 1 | a0001c0002t0002g0136 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2147-1623A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327223 | |||||||
chr22:24327246 | C | G | 1 | a0002c0003t0002g0102 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.2147-1600C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327246 | |||||||
chr22:24327272 | C | T | 1 | a0007c0011t0005g0317 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2147-1574C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327272 | |||||||
chr22:24327277 | C | CA | 72 | a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0207 others(69): Show |
72 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.2147-1544dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327277 | C | CAA | 23 | a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0003g0044 others(20): Show |
23 | HG00544.hp2 HG00558.hp2 HG00741.hp2 others(20): Show |
intron_variant | MODIFIER | c.2147-1545_2147-154 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327277 | CA | C | 55 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(52): Show |
55 | HG00323.hp1 HG00673.hp1 HG00738.hp1 others(52): Show |
intron_variant | MODIFIER | c.2147-1544delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327277 | CAA | C | 6 | a0001c0001t0004g0015 a0001c0001t0004g0022 a0001c0001t0004g0030 others(3): Show |
6 | HG04115.hp2 NA18955.hp2 NA18961.hp1 others(3): Show |
intron_variant | MODIFIER | c.2147-1545_2147-154 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327277 | CAAA | C | 19 | a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0018 others(16): Show |
19 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(16): Show |
intron_variant | MODIFIER | c.2147-1546_2147-154 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327277 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2147-1556_2147-154 others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 24327277 | ||||||
chr22:24327290 | A | C | 1 | a0001c0001t0001g0319 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2147-1556A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327290 | |||||||
chr22:24327300 | A | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2147-1546A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327300 | |||||||
chr22:24327307 | A | G | 1 | a0001c0001t0001g0238 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2147-1539A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327307 | |||||||
chr22:24327384 | G | A | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2147-1462G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327384 | |||||||
chr22:24327421 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2147-1425A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327421 | |||||||
chr22:24327504 | C | T | 7 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(4): Show |
7 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.2147-1342C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327504 | |||||||
chr22:24327561 | A | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2147-1285A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327561 | |||||||
chr22:24327584 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2147-1262C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327584 | |||||||
chr22:24327651 | A | T | 2 | a0001c0002t0002g0125 a0001c0002t0002g0129 |
2 | NA18964.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.2147-1195A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327651 | |||||||
chr22:24327676 | C | T | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.2147-1170C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327676 | |||||||
chr22:24327716 | G | A | 1 | a0001c0001t0001g0225 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2147-1130G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327716 | |||||||
chr22:24327766 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2147-1080A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24327766 | |||||||
chr22:24328002 | G | T | 3 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 |
3 | HG02145.hp1 HG02976.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2147-844G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328002 | |||||||
chr22:24328011 | C | G | 1 | a0001c0001t0023g0267 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2147-835C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328011 | |||||||
chr22:24328131 | G | A | 65 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(62): Show |
66 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(63): Show |
intron_variant | MODIFIER | c.2147-715G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328131 | |||||||
chr22:24328283 | C | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.2147-563C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328283 | |||||||
chr22:24328508 | A | G | 3 | a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0028g0282 |
3 | HG02280.hp2 HG02895.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2147-338A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328508 | |||||||
chr22:24328756 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.2147-90G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | 24328756 | |||||||
chr22:24329195 | C | G | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.2220+276C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/16 | chr22 | 24329195 | |||||||
chr22:24329367 | T | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2220+448T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/16 | chr22 | 24329367 | |||||||
chr22:24329837 | C | G | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.2221-419C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/16 | chr22 | 24329837 | |||||||
chr22:24330035 | G | T | 2 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | HG00544.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.2221-221G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/16 | chr22 | 24330035 | |||||||
chr22:24330151 | A | C | 1 | a0001c0001t0001g0204 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2221-105A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 7/16 | chr22 | 24330151 | |||||||
chr22:24330462 | T | C | 2 | a0001c0002t0002g0125 a0001c0002t0002g0129 |
2 | NA18964.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.2396+31T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330462 | |||||||
chr22:24330490 | A | G | 1 | a0001c0001t0016g0054 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2396+59A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330490 | |||||||
chr22:24330523 | GT | G | 6 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(3): Show |
6 | HG01952.hp1 HG01975.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.2396+95delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 24330523 | ||||||
chr22:24330549 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2396+118G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330549 | |||||||
chr22:24330601 | G | A | 1 | a0001c0002t0002g0126 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.2396+170G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330601 | |||||||
chr22:24330634 | T | A | 1 | a0001c0001t0012g0320 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2396+203T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330634 | |||||||
chr22:24330642 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2396+211A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330642 | |||||||
chr22:24330750 | T | G | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.2396+319T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330750 | |||||||
chr22:24330784 | G | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2396+353G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330784 | |||||||
chr22:24330786 | G | T | 1 | a0002c0003t0001g0038 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2396+355G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24330786 | |||||||
chr22:24331038 | A | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2396+607A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331038 | |||||||
chr22:24331048 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2396+617T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331048 | |||||||
chr22:24331098 | T | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2396+667T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331098 | |||||||
chr22:24331121 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2396+690G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331121 | |||||||
chr22:24331418 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2396+987A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331418 | |||||||
chr22:24331442 | T | A | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.2396+1011T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331442 | |||||||
chr22:24331530 | T | G | 1 | a0001c0001t0001g0053 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2396+1099T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331530 | |||||||
chr22:24331546 | A | T | 1 | a0001c0001t0001g0266 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2396+1115A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331546 | |||||||
chr22:24331560 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2396+1129C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331560 | |||||||
chr22:24331607 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2396+1176A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331607 | |||||||
chr22:24331719 | G | A | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.2396+1288G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331719 | |||||||
chr22:24331783 | A | G | 2 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.2396+1352A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331783 | |||||||
chr22:24331793 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2396+1362C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331793 | |||||||
chr22:24331852 | C | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2396+1421C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331852 | |||||||
chr22:24331878 | A | C | 78 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(75): Show |
79 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2396+1447A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24331878 | |||||||
chr22:24332401 | G | A | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2396+1970G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332401 | |||||||
chr22:24332500 | G | A | 2 | a0001c0001t0005g0311 a0001c0001t0005g0312 |
2 | HG01891.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.2397-1910G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332500 | |||||||
chr22:24332585 | C | T | 1 | a0001c0001t0012g0321 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2397-1825C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332585 | |||||||
chr22:24332669 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2397-1741G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332669 | |||||||
chr22:24332882 | A | G | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2397-1528A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332882 | |||||||
chr22:24332973 | G | A | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.2397-1437G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24332973 | |||||||
chr22:24333242 | A | G | 3 | a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0272 |
3 | HG01069.hp2 HG01071.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.2397-1168A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333242 | |||||||
chr22:24333391 | A | C | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2397-1019A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333391 | |||||||
chr22:24333545 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2397-865A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333545 | |||||||
chr22:24333595 | T | G | 1 | a0001c0001t0016g0054 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2397-815T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333595 | |||||||
chr22:24333640 | T | G | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2397-770T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333640 | |||||||
chr22:24333689 | C | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2397-721C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333689 | |||||||
chr22:24333915 | G | C | 1 | a0001c0001t0022g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2397-495G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333915 | |||||||
chr22:24333971 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2397-439A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24333971 | |||||||
chr22:24334014 | G | GT | 35 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0072 others(32): Show |
35 | HG00280.hp2 HG00741.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.2397-380dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 24334014 | ||||||
chr22:24334061 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2397-349G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24334061 | |||||||
chr22:24334235 | A | G | 1 | a0001c0002t0010g0087 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2397-175A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24334235 | |||||||
chr22:24334302 | G | A | 2 | a0001c0001t0003g0146 a0001c0001t0003g0150 |
2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.2397-108G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24334302 | |||||||
chr22:24334351 | G | GA | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2397-55dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 24334351 | ||||||
chr22:24334372 | C | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2397-38C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 8/16 | chr22 | 24334372 | |||||||
chr22:24334580 | A | G | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | splice_region_variant&intron_variant | LOW | c.2560+7A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334580 | |||||||
chr22:24334610 | G | A | 1 | a0001c0002t0002g0133 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2560+37G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334610 | |||||||
chr22:24334619 | C | T | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.2560+46C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334619 | |||||||
chr22:24334634 | C | T | 2 | a0001c0001t0001g0048 a0001c0001t0001g0233 |
2 | HG02015.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.2560+61C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334634 | |||||||
chr22:24334717 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2560+144A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334717 | |||||||
chr22:24334980 | A | G | 1 | a0001c0001t0001g0254 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2560+407A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24334980 | |||||||
chr22:24335093 | C | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2560+520C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335093 | |||||||
chr22:24335102 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2560+529C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335102 | |||||||
chr22:24335177 | C | G | 2 | a0001c0004t0002g0113 a0001c0004t0002g0114 |
2 | HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2560+604C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335177 | |||||||
chr22:24335187 | C | T | 5 | a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show |
5 | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(2): Show |
intron_variant | MODIFIER | c.2560+614C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335187 | |||||||
chr22:24335298 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2560+725G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335298 | |||||||
chr22:24335298 | G | C | 1 | a0001c0001t0001g0210 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2560+725G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335298 | |||||||
chr22:24335383 | C | G | 1 | a0001c0002t0002g0098 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2560+810C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335383 | |||||||
chr22:24335426 | T | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2560+853T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335426 | |||||||
chr22:24335454 | C | T | 1 | a0001c0001t0001g0273 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2560+881C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335454 | |||||||
chr22:24335632 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2560+1059C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335632 | |||||||
chr22:24335701 | C | T | 1 | a0001c0001t0003g0174 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2560+1128C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335701 | |||||||
chr22:24335929 | C | T | 4 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0276 others(1): Show |
4 | HG02055.hp2 HG02965.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2560+1356C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24335929 | |||||||
chr22:24336007 | C | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2560+1434C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336007 | |||||||
chr22:24336068 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2560+1495A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336068 | |||||||
chr22:24336077 | A | G | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2560+1504A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336077 | |||||||
chr22:24336103 | C | T | 1 | a0001c0001t0036g0034 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2560+1530C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336103 | |||||||
chr22:24336250 | CAT | C | 3 | a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0022g0081 |
3 | HG02572.hp1 HG02615.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.2560+1690_2560+169 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | 24336250 | ||||||
chr22:24336492 | T | G | 3 | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 |
3 | HG00438.hp1 NA18960.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2561-1894T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336492 | |||||||
chr22:24336835 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2561-1551C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24336835 | |||||||
chr22:24337110 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2561-1276A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24337110 | |||||||
chr22:24337155 | C | A | 1 | a0001c0001t0036g0034 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2561-1231C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24337155 | |||||||
chr22:24337387 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2561-999A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24337387 | |||||||
chr22:24337434 | G | A | 1 | a0001c0001t0001g0212 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.2561-952G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24337434 | |||||||
chr22:24337592 | C | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2561-794C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24337592 | |||||||
chr22:24338062 | G | A | 1 | a0001c0001t0012g0322 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2561-324G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24338062 | |||||||
chr22:24338064 | G | C | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2561-322G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 9/16 | chr22 | 24338064 | |||||||
chr22:24338544 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2652+67C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24338544 | |||||||
chr22:24338650 | A | G | 1 | a0001c0001t0028g0282 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2652+173A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24338650 | |||||||
chr22:24338769 | A | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2652+292A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24338769 | |||||||
chr22:24338883 | G | T | 1 | a0001c0001t0007g0256 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2652+406G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24338883 | |||||||
chr22:24338955 | A | T | 2 | a0001c0004t0002g0113 a0001c0004t0002g0114 |
2 | HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2652+478A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24338955 | |||||||
chr22:24339123 | A | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2652+646A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339123 | |||||||
chr22:24339452 | G | A | 1 | a0001c0001t0012g0322 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2652+975G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339452 | |||||||
chr22:24339745 | C | T | 1 | a0001c0001t0001g0213 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2652+1268C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339745 | |||||||
chr22:24339784 | CCTT | C | 73 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(70): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.2652+1308_2652+131 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339784 | |||||||
chr22:24339785 | C | CT | 7 | a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0230 others(4): Show |
7 | HG00609.hp2 HG01175.hp2 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.2652+1318dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24339785 | ||||||
chr22:24339789 | T | C | 1 | a0001c0001t0024g0205 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2652+1312T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339789 | |||||||
chr22:24339851 | C | T | 1 | a0001c0001t0013g0165 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2652+1374C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339851 | |||||||
chr22:24339852 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2652+1375G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24339852 | |||||||
chr22:24340012 | T | A | 1 | a0001c0001t0001g0210 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2652+1535T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340012 | |||||||
chr22:24340017 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2652+1540T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340017 | |||||||
chr22:24340140 | C | CT | 33 | a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 others(30): Show |
33 | HG00140.hp2 HG00741.hp1 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.2652+1689dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24340140 | ||||||
chr22:24340140 | C | CTT | 12 | a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0008g0299 others(9): Show |
12 | HG00408.hp2 HG00609.hp2 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.2652+1688_2652+168 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24340140 | ||||||
chr22:24340140 | C | CTTT | 9 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2652+1687_2652+168 others(7): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24340140 | ||||||
chr22:24340140 | CT | C | 32 | a0001c0001t0001g0057 a0001c0001t0001g0207 a0001c0001t0001g0214 others(29): Show |
32 | HG00140.hp1 HG00323.hp1 HG01070.hp2 others(29): Show |
intron_variant | MODIFIER | c.2652+1689delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24340140 | ||||||
chr22:24340212 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2652+1735G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340212 | |||||||
chr22:24340218 | G | A | 4 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show |
4 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.2652+1741G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340218 | |||||||
chr22:24340312 | T | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2652+1835T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340312 | |||||||
chr22:24340585 | C | T | 1 | a0001c0001t0001g0265 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2652+2108C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340585 | |||||||
chr22:24340673 | T | C | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2652+2196T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340673 | |||||||
chr22:24340673 | T | G | 1 | a0001c0001t0002g0077 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2652+2196T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340673 | |||||||
chr22:24340677 | C | A | 2 | a0003c0005t0001g0287 a0003c0005t0001g0288 |
2 | HG00609.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.2652+2200C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340677 | |||||||
chr22:24340723 | C | G | 2 | a0001c0001t0001g0279 a0001c0001t0001g0281 |
2 | HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2652+2246C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340723 | |||||||
chr22:24340977 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2652+2500G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24340977 | |||||||
chr22:24341111 | T | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2652+2634T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341111 | |||||||
chr22:24341359 | A | G | 38 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(35): Show |
38 | HG00438.hp1 HG01070.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.2652+2882A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341359 | |||||||
chr22:24341390 | G | A | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2652+2913G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341390 | |||||||
chr22:24341415 | G | A | 1 | a0001c0001t0026g0231 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2652+2938G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341415 | |||||||
chr22:24341424 | A | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2652+2947A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341424 | |||||||
chr22:24341498 | C | T | 2 | a0001c0004t0002g0113 a0001c0004t0002g0114 |
2 | HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2652+3021C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341498 | |||||||
chr22:24341744 | A | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2652+3267A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341744 | |||||||
chr22:24341849 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2652+3372G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341849 | |||||||
chr22:24341900 | A | C | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.2652+3423A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24341900 | |||||||
chr22:24342006 | C | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2652+3529C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24342006 | |||||||
chr22:24342272 | C | T | 2 | a0001c0001t0005g0314 a0001c0001t0005g0315 |
2 | HG01167.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.2652+3795C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24342272 | |||||||
chr22:24342409 | G | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2652+3932G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24342409 | |||||||
chr22:24342608 | G | A | 1 | a0002c0003t0001g0038 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2652+4131G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24342608 | |||||||
chr22:24342672 | C | CAA | 6 | a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 others(3): Show |
6 | HG01346.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.2652+4212_2652+421 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24342672 | ||||||
chr22:24342672 | CA | C | 191 | a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0002g0072 others(188): Show |
192 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(189): Show |
intron_variant | MODIFIER | c.2652+4213delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24342672 | ||||||
chr22:24342709 | A | G | 1 | a0001c0002t0002g0099 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2652+4232A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24342709 | |||||||
chr22:24343172 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2653-3914C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24343172 | |||||||
chr22:24343456 | T | G | 2 | a0001c0001t0003g0151 a0001c0009t0034g0067 |
2 | HG01070.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.2653-3630T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24343456 | |||||||
chr22:24343461 | G | T | 1 | a0001c0002t0010g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2653-3625G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24343461 | |||||||
chr22:24343705 | C | T | 1 | a0001c0001t0001g0319 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2653-3381C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24343705 | |||||||
chr22:24343803 | T | TA | 24 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(21): Show |
24 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(21): Show |
intron_variant | MODIFIER | c.2653-3272dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24343803 | ||||||
chr22:24344108 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-2978T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344108 | |||||||
chr22:24344292 | G | C | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.2653-2794G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344292 | |||||||
chr22:24344309 | T | C | 1 | a0001c0001t0001g0248 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2653-2777T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344309 | |||||||
chr22:24344333 | G | GA | 17 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(14): Show |
17 | HG00673.hp1 HG01109.hp1 HG02056.hp1 others(14): Show |
intron_variant | MODIFIER | c.2653-2745dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24344333 | ||||||
chr22:24344343 | TA | T | 41 | a0001c0001t0001g0274 a0001c0001t0004g0014 a0001c0001t0004g0015 others(38): Show |
41 | HG00438.hp1 HG01167.hp1 HG01167.hp2 others(38): Show |
intron_variant | MODIFIER | c.2653-2732delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24344343 | ||||||
chr22:24344367 | C | T | 3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2653-2719C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344367 | |||||||
chr22:24344592 | CA | C | 53 | a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0263 others(50): Show |
53 | HG00438.hp1 HG01070.hp2 HG01243.hp1 others(50): Show |
intron_variant | MODIFIER | c.2653-2476delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24344592 | ||||||
chr22:24344592 | CAA | C | 148 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(145): Show |
149 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(146): Show |
intron_variant | MODIFIER | c.2653-2477_2653-247 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24344592 | ||||||
chr22:24344605 | AAAAAAG | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2653-2477_2653-247 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24344605 | ||||||
chr22:24344652 | G | A | 1 | a0001c0001t0001g0279 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2653-2434G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344652 | |||||||
chr22:24344672 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-2414T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344672 | |||||||
chr22:24344927 | T | C | 1 | a0001c0002t0010g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2653-2159T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344927 | |||||||
chr22:24344966 | G | T | 1 | a0001c0001t0003g0150 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2653-2120G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24344966 | |||||||
chr22:24345081 | G | C | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2653-2005G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345081 | |||||||
chr22:24345119 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-1967A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345119 | |||||||
chr22:24345208 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2653-1878G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345208 | |||||||
chr22:24345219 | G | A | 1 | a0001c0001t0001g0266 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2653-1867G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345219 | |||||||
chr22:24345246 | A | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2653-1840A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345246 | |||||||
chr22:24345445 | A | G | 5 | a0001c0002t0002g0003 a0001c0002t0002g0092 a0001c0002t0002g0139 others(2): Show |
5 | HG02615.hp1 HG02622.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2653-1641A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345445 | |||||||
chr22:24345446 | TA | T | 3 | a0001c0001t0003g0043 a0001c0001t0003g0152 a0001c0001t0003g0153 |
3 | HG01952.hp2 HG02148.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.2653-1637delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24345446 | ||||||
chr22:24345588 | A | G | 1 | a0001c0001t0004g0031 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2653-1498A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345588 | |||||||
chr22:24345633 | CAA | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2653-1451_2653-145 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24345633 | ||||||
chr22:24345689 | G | T | 1 | a0001c0001t0001g0210 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2653-1397G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345689 | |||||||
chr22:24345772 | G | C | 1 | a0001c0002t0002g0006 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2653-1314G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345772 | |||||||
chr22:24345811 | G | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.2653-1275G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345811 | |||||||
chr22:24345868 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-1218G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345868 | |||||||
chr22:24345913 | A | G | 3 | a0001c0001t0012g0320 a0001c0001t0012g0321 a0001c0001t0012g0323 |
3 | HG01891.hp2 HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2653-1173A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24345913 | |||||||
chr22:24346003 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-1083T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346003 | |||||||
chr22:24346011 | GTT | G | 27 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0018 others(24): Show |
27 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(24): Show |
intron_variant | MODIFIER | c.2653-1063_2653-106 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | 24346011 | ||||||
chr22:24346041 | A | C | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.2653-1045A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346041 | |||||||
chr22:24346076 | G | A | 1 | a0001c0001t0009g0193 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2653-1010G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346076 | |||||||
chr22:24346150 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2653-936G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346150 | |||||||
chr22:24346153 | C | T | 1 | a0001c0001t0002g0077 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2653-933C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346153 | |||||||
chr22:24346309 | T | C | 1 | a0001c0001t0001g0276 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2653-777T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346309 | |||||||
chr22:24346326 | C | T | 193 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(190): Show |
194 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(191): Show |
intron_variant | MODIFIER | c.2653-760C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346326 | |||||||
chr22:24346337 | G | T | 1 | a0001c0001t0003g0150 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2653-749G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346337 | |||||||
chr22:24346380 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2653-706T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346380 | |||||||
chr22:24346458 | C | G | 66 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(63): Show |
66 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(63): Show |
intron_variant | MODIFIER | c.2653-628C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346458 | |||||||
chr22:24346525 | G | A | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.2653-561G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346525 | |||||||
chr22:24346617 | G | C | 1 | a0001c0001t0001g0063 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.2653-469G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346617 | |||||||
chr22:24346697 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2653-389C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346697 | |||||||
chr22:24346772 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2653-314A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346772 | |||||||
chr22:24346882 | A | G | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2653-204A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346882 | |||||||
chr22:24346893 | A | G | 1 | a0001c0001t0001g0265 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2653-193A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346893 | |||||||
chr22:24346902 | A | G | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.2653-184A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346902 | |||||||
chr22:24346993 | G | A | 2 | a0001c0001t0007g0255 a0001c0001t0007g0286 |
2 | HG02970.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2653-93G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 10/16 | chr22 | 24346993 | |||||||
chr22:24347186 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+10A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347186 | |||||||
chr22:24347361 | G | A | 1 | a0001c0001t0002g0075 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2743+185G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347361 | |||||||
chr22:24347427 | A | G | 1 | a0001c0001t0001g0253 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.2743+251A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347427 | |||||||
chr22:24347736 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+560C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347736 | |||||||
chr22:24347738 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+562C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347738 | |||||||
chr22:24347740 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+564A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347740 | |||||||
chr22:24347832 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2743+656C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347832 | |||||||
chr22:24347924 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2743+748C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347924 | |||||||
chr22:24347929 | A | C | 2 | a0001c0001t0001g0218 a0001c0001t0014g0013 |
2 | HG01346.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.2743+753A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24347929 | |||||||
chr22:24348110 | G | T | 1 | a0001c0002t0002g0097 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2743+934G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348110 | |||||||
chr22:24348111 | T | C | 202 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(199): Show |
203 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(200): Show |
intron_variant | MODIFIER | c.2743+935T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348111 | |||||||
chr22:24348122 | G | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2743+946G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348122 | |||||||
chr22:24348197 | T | TC | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.2743+1023dupC | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24348197 | ||||||
chr22:24348282 | G | C | 1 | a0001c0002t0018g0130 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2743+1106G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348282 | |||||||
chr22:24348367 | A | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2743+1191A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348367 | |||||||
chr22:24348387 | G | A | 1 | a0001c0002t0002g0005 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2743+1211G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348387 | |||||||
chr22:24348574 | T | C | 3 | a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0020g0138 |
3 | HG02615.hp1 HG02622.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2743+1398T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348574 | |||||||
chr22:24348734 | T | C | 39 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(36): Show |
39 | HG00438.hp1 HG01070.hp2 HG01243.hp1 others(36): Show |
intron_variant | MODIFIER | c.2743+1558T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24348734 | |||||||
chr22:24349007 | T | G | 2 | a0001c0002t0002g0089 a0001c0002t0002g0199 |
2 | NA18957.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.2743+1831T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349007 | |||||||
chr22:24349075 | C | G | 1 | a0001c0001t0001g0213 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2743+1899C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349075 | |||||||
chr22:24349146 | T | A | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2743+1970T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349146 | |||||||
chr22:24349293 | T | C | 61 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(58): Show |
61 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(58): Show |
intron_variant | MODIFIER | c.2743+2117T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349293 | |||||||
chr22:24349331 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2743+2155C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349331 | |||||||
chr22:24349337 | C | T | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.2743+2161C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349337 | |||||||
chr22:24349361 | G | A | 2 | a0001c0001t0038g0147 a0001c0001t0039g0149 |
2 | HG01123.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.2743+2185G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349361 | |||||||
chr22:24349426 | T | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+2250T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349426 | |||||||
chr22:24349530 | A | C | 264 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(261): Show |
265 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(262): Show |
intron_variant | MODIFIER | c.2743+2354A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349530 | |||||||
chr22:24349644 | A | G | 1 | a0001c0001t0001g0229 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2743+2468A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349644 | |||||||
chr22:24349679 | T | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2743+2503T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349679 | |||||||
chr22:24349699 | G | T | 208 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(205): Show |
209 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(206): Show |
intron_variant | MODIFIER | c.2743+2523G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349699 | |||||||
chr22:24349810 | A | G | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2743+2634A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349810 | |||||||
chr22:24349833 | G | T | 1 | a0001c0002t0002g0094 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2743+2657G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349833 | |||||||
chr22:24349846 | A | T | 3 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | HG01109.hp1 HG02486.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2743+2670A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349846 | |||||||
chr22:24349909 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2743+2733G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349909 | |||||||
chr22:24349952 | A | G | 50 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(47): Show |
50 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(47): Show |
intron_variant | MODIFIER | c.2743+2776A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349952 | |||||||
chr22:24349989 | C | T | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2743+2813C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24349989 | |||||||
chr22:24350166 | C | T | 1 | a0003c0005t0001g0287 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2743+2990C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350166 | |||||||
chr22:24350411 | G | C | 1 | a0001c0002t0010g0196 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2743+3235G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350411 | |||||||
chr22:24350454 | C | T | 1 | a0001c0001t0004g0027 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.2743+3278C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350454 | |||||||
chr22:24350559 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2743+3383C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350559 | |||||||
chr22:24350649 | C | A | 1 | a0001c0001t0002g0079 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2743+3473C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350649 | |||||||
chr22:24350830 | G | T | 1 | a0002c0003t0002g0103 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2743+3654G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350830 | |||||||
chr22:24350881 | C | T | 1 | a0001c0001t0001g0221 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2743+3705C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350881 | |||||||
chr22:24350972 | C | T | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2743+3796C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24350972 | |||||||
chr22:24351063 | G | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2743+3887G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351063 | |||||||
chr22:24351090 | C | G | 1 | a0001c0001t0028g0282 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2743+3914C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351090 | |||||||
chr22:24351660 | A | G | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2743+4484A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351660 | |||||||
chr22:24351700 | A | G | 1 | a0001c0001t0002g0295 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2743+4524A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351700 | |||||||
chr22:24351921 | G | A | 1 | a0001c0002t0020g0138 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2743+4745G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351921 | |||||||
chr22:24351946 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2743+4770G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24351946 | |||||||
chr22:24351988 | C | CA | 9 | a0001c0001t0002g0076 a0001c0001t0004g0023 a0001c0001t0007g0256 others(6): Show |
9 | HG02145.hp2 HG02559.hp1 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.2743+4823dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24351988 | ||||||
chr22:24352021 | A | G | 38 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(35): Show |
38 | HG00438.hp1 HG01070.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.2743+4845A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352021 | |||||||
chr22:24352024 | G | GT | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2743+4859dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24352024 | ||||||
chr22:24352036 | A | T | 1 | a0001c0002t0010g0064 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.2743+4860A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352036 | |||||||
chr22:24352257 | C | T | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2743+5081C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352257 | |||||||
chr22:24352277 | A | G | 2 | a0001c0002t0002g0039 a0001c0002t0002g0306 |
2 | NA18978.hp2 NA18980.hp1 |
intron_variant | MODIFIER | c.2743+5101A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352277 | |||||||
chr22:24352294 | A | G | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2743+5118A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352294 | |||||||
chr22:24352426 | C | T | 2 | a0001c0001t0001g0048 a0001c0001t0001g0233 |
2 | HG02015.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.2743+5250C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352426 | |||||||
chr22:24352464 | C | A | 6 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(3): Show |
6 | HG01952.hp1 HG01975.hp1 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.2743+5288C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352464 | |||||||
chr22:24352546 | A | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2743+5370A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352546 | |||||||
chr22:24352559 | A | G | 38 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(35): Show |
38 | HG00438.hp1 HG01070.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.2743+5383A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352559 | |||||||
chr22:24352588 | T | C | 1 | a0001c0002t0001g0117 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2743+5412T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24352588 | |||||||
chr22:24353352 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2743+6176A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353352 | |||||||
chr22:24353489 | A | G | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2743+6313A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353489 | |||||||
chr22:24353520 | T | G | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2743+6344T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353520 | |||||||
chr22:24353555 | C | A | 1 | a0001c0002t0010g0090 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.2743+6379C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353555 | |||||||
chr22:24353581 | A | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2743+6405A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353581 | |||||||
chr22:24353650 | C | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2743+6474C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353650 | |||||||
chr22:24353659 | C | T | 1 | a0001c0001t0008g0299 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2743+6483C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353659 | |||||||
chr22:24353832 | G | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2743+6656G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24353832 | |||||||
chr22:24354019 | C | T | 1 | a0001c0002t0002g0115 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2743+6843C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354019 | |||||||
chr22:24354191 | C | T | 1 | a0001c0002t0002g0041 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2743+7015C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354191 | |||||||
chr22:24354305 | T | A | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2743+7129T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354305 | |||||||
chr22:24354544 | T | C | 207 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(204): Show |
208 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(205): Show |
intron_variant | MODIFIER | c.2743+7368T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354544 | |||||||
chr22:24354613 | T | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.2743+7437T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354613 | |||||||
chr22:24354631 | C | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.2743+7455C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354631 | |||||||
chr22:24354663 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2743+7487G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354663 | |||||||
chr22:24354671 | T | C | 3 | a0001c0002t0002g0139 a0001c0002t0002g0194 a0001c0002t0020g0138 |
3 | HG02615.hp1 HG02622.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2743+7495T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354671 | |||||||
chr22:24354864 | A | G | 1 | a0001c0002t0002g0132 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2743+7688A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354864 | |||||||
chr22:24354894 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2743+7718C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354894 | |||||||
chr22:24354899 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2743+7723G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24354899 | |||||||
chr22:24355190 | T | C | 209 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(206): Show |
210 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(207): Show |
intron_variant | MODIFIER | c.2743+8014T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355190 | |||||||
chr22:24355260 | C | T | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2744-8001C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355260 | |||||||
chr22:24355272 | A | T | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.2744-7989A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355272 | |||||||
chr22:24355281 | C | CA | 117 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(114): Show |
117 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.2744-7958dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24355281 | ||||||
chr22:24355281 | C | CAA | 13 | a0001c0001t0001g0010 a0001c0001t0003g0043 a0001c0001t0003g0152 others(10): Show |
14 | HG01346.hp1 HG01884.hp2 HG01952.hp2 others(11): Show |
intron_variant | MODIFIER | c.2744-7959_2744-795 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24355281 | ||||||
chr22:24355281 | CA | C | 10 | a0001c0001t0001g0214 a0001c0001t0001g0245 a0001c0001t0005g0314 others(7): Show |
10 | HG01070.hp2 HG01167.hp1 HG01975.hp1 others(7): Show |
intron_variant | MODIFIER | c.2744-7958delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24355281 | ||||||
chr22:24355334 | C | T | 4 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0023 others(1): Show |
4 | NA18977.hp1 NA18979.hp2 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.2744-7927C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355334 | |||||||
chr22:24355341 | A | G | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2744-7920A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355341 | |||||||
chr22:24355426 | C | CCTGTCTG others(1): Show |
29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG02080.hp1 HG02572.hp2 others(26): Show |
intron_variant | MODIFIER | c.2744-7824_2744-781 others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24355426 | ||||||
chr22:24355559 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2744-7702A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355559 | |||||||
chr22:24355682 | A | T | 5 | a0001c0001t0009g0071 a0001c0001t0012g0320 a0001c0001t0012g0321 others(2): Show |
5 | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2744-7579A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355682 | |||||||
chr22:24355826 | G | GT | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.2744-7425dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24355826 | ||||||
chr22:24355892 | A | G | 1 | a0001c0001t0001g0232 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2744-7369A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355892 | |||||||
chr22:24355971 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-7290G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24355971 | |||||||
chr22:24356028 | T | G | 1 | a0001c0001t0009g0084 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2744-7233T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356028 | |||||||
chr22:24356170 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-7091A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356170 | |||||||
chr22:24356200 | TC | T | 4 | a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0279 others(1): Show |
4 | HG02647.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.2744-7060delC | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356200 | |||||||
chr22:24356393 | A | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.2744-6868A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356393 | |||||||
chr22:24356676 | A | G | 2 | a0001c0002t0002g0003 a0001c0002t0002g0092 |
2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2744-6585A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356676 | |||||||
chr22:24356867 | T | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.2744-6394T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356867 | |||||||
chr22:24356900 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2744-6361T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356900 | |||||||
chr22:24356930 | A | G | 1 | a0001c0001t0038g0147 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2744-6331A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356930 | |||||||
chr22:24356953 | G | T | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2744-6308G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24356953 | |||||||
chr22:24357046 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2744-6215A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357046 | |||||||
chr22:24357056 | TG | T | 266 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(263): Show |
267 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(264): Show |
intron_variant | MODIFIER | c.2744-6198delG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24357056 | ||||||
chr22:24357358 | T | G | 1 | a0001c0001t0001g0281 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2744-5903T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357358 | |||||||
chr22:24357420 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2744-5841A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357420 | |||||||
chr22:24357630 | A | C | 1 | a0001c0002t0011g0111 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2744-5631A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357630 | |||||||
chr22:24357791 | A | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2744-5470A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357791 | |||||||
chr22:24357866 | C | G | 3 | a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0272 |
3 | HG01069.hp2 HG01071.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.2744-5395C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357866 | |||||||
chr22:24357961 | C | T | 1 | a0001c0001t0028g0282 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2744-5300C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357961 | |||||||
chr22:24357989 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2744-5272A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24357989 | |||||||
chr22:24358092 | G | A | 2 | a0001c0002t0002g0039 a0001c0002t0002g0306 |
2 | NA18978.hp2 NA18980.hp1 |
intron_variant | MODIFIER | c.2744-5169G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358092 | |||||||
chr22:24358115 | G | GT | 35 | a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0201 others(32): Show |
35 | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.2744-5129dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24358115 | ||||||
chr22:24358115 | G | T | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.2744-5146G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358115 | |||||||
chr22:24358115 | GT | G | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0018 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.2744-5129delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24358115 | ||||||
chr22:24358115 | GTT | G | 7 | a0001c0001t0005g0004 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.2744-5130_2744-512 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24358115 | ||||||
chr22:24358136 | G | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2744-5125G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358136 | |||||||
chr22:24358146 | A | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2744-5115A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358146 | |||||||
chr22:24358157 | C | T | 3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2744-5104C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358157 | |||||||
chr22:24358176 | G | A | 1 | a0001c0002t0010g0104 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2744-5085G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358176 | |||||||
chr22:24358357 | C | T | 3 | a0001c0002t0011g0110 a0001c0002t0011g0111 a0001c0002t0011g0122 |
3 | NA18939.hp2 NA19077.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2744-4904C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358357 | |||||||
chr22:24358358 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-4903G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358358 | |||||||
chr22:24358479 | C | T | 4 | a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 others(1): Show |
4 | NA18974.hp2 NA18980.hp2 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.2744-4782C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358479 | |||||||
chr22:24358604 | G | A | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.2744-4657G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358604 | |||||||
chr22:24358646 | G | A | 2 | a0001c0001t0002g0078 a0001c0001t0002g0080 |
2 | HG01243.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2744-4615G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358646 | |||||||
chr22:24358666 | A | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2744-4595A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358666 | |||||||
chr22:24358823 | T | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.2744-4438T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358823 | |||||||
chr22:24358925 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-4336C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358925 | |||||||
chr22:24358943 | A | G | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.2744-4318A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24358943 | |||||||
chr22:24359000 | T | C | 1 | a0001c0001t0001g0230 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2744-4261T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359000 | |||||||
chr22:24359025 | C | T | 1 | a0001c0001t0001g0281 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2744-4236C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359025 | |||||||
chr22:24359057 | G | T | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.2744-4204G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359057 | |||||||
chr22:24359129 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2744-4132C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359129 | |||||||
chr22:24359396 | T | C | 1 | a0001c0002t0002g0006 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2744-3865T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359396 | |||||||
chr22:24359602 | C | T | 1 | a0002c0003t0002g0103 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2744-3659C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359602 | |||||||
chr22:24359626 | G | A | 27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
27 | HG00438.hp1 HG01070.hp2 HG02572.hp2 others(24): Show |
intron_variant | MODIFIER | c.2744-3635G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359626 | |||||||
chr22:24359668 | G | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2744-3593G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359668 | |||||||
chr22:24359855 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-3406C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359855 | |||||||
chr22:24359882 | A | G | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.2744-3379A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24359882 | |||||||
chr22:24360332 | A | G | 1 | a0007c0011t0005g0317 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2744-2929A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360332 | |||||||
chr22:24360391 | C | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2744-2870C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360391 | |||||||
chr22:24360411 | C | T | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2744-2850C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360411 | |||||||
chr22:24360430 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2744-2831A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360430 | |||||||
chr22:24360815 | T | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2744-2446T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360815 | |||||||
chr22:24360883 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-2378A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360883 | |||||||
chr22:24360897 | C | T | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2744-2364C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24360897 | |||||||
chr22:24361002 | CT | C | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.2744-2256delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24361002 | ||||||
chr22:24361011 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2744-2250A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361011 | |||||||
chr22:24361158 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2744-2103G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361158 | |||||||
chr22:24361269 | A | C | 1 | a0001c0001t0001g0002 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2744-1992A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361269 | |||||||
chr22:24361270 | G | C | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.2744-1991G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361270 | |||||||
chr22:24361320 | TCAAGGTG others(9): Show |
T | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2744-1936_2744-192 others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 24361320 | ||||||
chr22:24361557 | C | T | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2744-1704C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361557 | |||||||
chr22:24361566 | C | T | 4 | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 others(1): Show |
4 | HG00140.hp2 HG02735.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2744-1695C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361566 | |||||||
chr22:24361659 | G | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2744-1602G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361659 | |||||||
chr22:24361717 | G | A | 1 | a0001c0001t0004g0033 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2744-1544G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361717 | |||||||
chr22:24361799 | C | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2744-1462C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361799 | |||||||
chr22:24361810 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2744-1451C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361810 | |||||||
chr22:24361811 | C | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2744-1450C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24361811 | |||||||
chr22:24362455 | C | T | 1 | a0001c0001t0004g0033 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2744-806C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24362455 | |||||||
chr22:24362756 | C | T | 1 | a0001c0001t0003g0197 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.2744-505C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24362756 | |||||||
chr22:24362864 | G | T | 33 | a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0140 others(30): Show |
33 | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(30): Show |
intron_variant | MODIFIER | c.2744-397G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24362864 | |||||||
chr22:24362878 | G | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2744-383G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 11/16 | chr22 | 24362878 | |||||||
chr22:24363521 | C | G | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2827+177C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24363521 | |||||||
chr22:24363547 | T | C | 1 | a0001c0001t0004g0023 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.2827+203T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24363547 | |||||||
chr22:24363844 | A | T | 1 | a0001c0001t0001g0319 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2827+500A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24363844 | |||||||
chr22:24363915 | C | CGGTGGG | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.2827+590_2827+595d others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 24363915 | ||||||
chr22:24363928 | GGTGGGGG others(5): Show |
G | 1 | a0001c0001t0023g0267 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2827+592_2827+603d others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 24363928 | ||||||
chr22:24363941 | G | A | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.2827+597G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24363941 | |||||||
chr22:24364090 | G | C | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2827+746G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364090 | |||||||
chr22:24364125 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2827+781C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364125 | |||||||
chr22:24364133 | T | G | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.2827+789T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364133 | |||||||
chr22:24364134 | T | C | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.2827+790T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364134 | |||||||
chr22:24364135 | A | G | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2827+791A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364135 | |||||||
chr22:24364191 | T | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2827+847T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364191 | |||||||
chr22:24364383 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2827+1039C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24364383 | |||||||
chr22:24364661 | C | CA | 15 | a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0213 others(12): Show |
15 | HG00738.hp2 HG01109.hp1 HG01167.hp2 others(12): Show |
intron_variant | MODIFIER | c.2828-796dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 24364661 | ||||||
chr22:24364661 | CA | C | 154 | a0001c0001t0001g0266 a0001c0001t0002g0073 a0001c0001t0003g0043 others(151): Show |
154 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(151): Show |
intron_variant | MODIFIER | c.2828-796delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 24364661 | ||||||
chr22:24364661 | CAA | C | 27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
28 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(25): Show |
intron_variant | MODIFIER | c.2828-797_2828-796d others(4): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 24364661 | ||||||
chr22:24365115 | C | T | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.2828-361C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24365115 | |||||||
chr22:24365173 | A | G | 78 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(75): Show |
79 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.2828-303A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24365173 | |||||||
chr22:24365189 | G | A | 1 | a0001c0002t0002g0126 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.2828-287G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24365189 | |||||||
chr22:24365305 | G | A | 1 | a0001c0001t0001g0266 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2828-171G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | chr22 | 24365305 | |||||||
chr22:24365776 | G | T | 2 | a0001c0001t0004g0022 a0001c0001t0004g0030 |
2 | NA18961.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.2984+144G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24365776 | |||||||
chr22:24365846 | CT | C | 10 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(7): Show |
10 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.2984+231delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | 24365846 | ||||||
chr22:24365885 | C | G | 50 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(47): Show |
50 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(47): Show |
intron_variant | MODIFIER | c.2984+253C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24365885 | |||||||
chr22:24366130 | A | G | 1 | a0001c0001t0008g0299 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2984+498A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366130 | |||||||
chr22:24366200 | CT | C | 261 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(258): Show |
262 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(259): Show |
intron_variant | MODIFIER | c.2984+580delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | 24366200 | ||||||
chr22:24366231 | C | A | 4 | a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 others(1): Show |
4 | NA18974.hp2 NA18980.hp2 NA19054.hp1 others(1): Show |
intron_variant | MODIFIER | c.2984+599C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366231 | |||||||
chr22:24366249 | G | A | 1 | a0001c0001t0001g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2984+617G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366249 | |||||||
chr22:24366394 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2984+762C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366394 | |||||||
chr22:24366409 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2984+777G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366409 | |||||||
chr22:24366440 | G | A | 5 | a0001c0002t0002g0003 a0001c0002t0002g0092 a0001c0002t0002g0139 others(2): Show |
5 | HG02615.hp1 HG02622.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2984+808G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366440 | |||||||
chr22:24366569 | C | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.2984+937C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366569 | |||||||
chr22:24366583 | T | A | 2 | a0001c0001t0003g0146 a0001c0001t0003g0150 |
2 | HG00280.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.2984+951T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366583 | |||||||
chr22:24366610 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+978G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366610 | |||||||
chr22:24366611 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+979T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366611 | |||||||
chr22:24366614 | G | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+982G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366614 | |||||||
chr22:24366617 | C | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+985C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366617 | |||||||
chr22:24366618 | C | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+986C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366618 | |||||||
chr22:24366620 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+988G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366620 | |||||||
chr22:24366624 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+992T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366624 | |||||||
chr22:24366626 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+994T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366626 | |||||||
chr22:24366629 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+997T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366629 | |||||||
chr22:24366633 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1001G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366633 | |||||||
chr22:24366635 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1003A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366635 | |||||||
chr22:24366637 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1005G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366637 | |||||||
chr22:24366640 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1008G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366640 | |||||||
chr22:24366643 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1011T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366643 | |||||||
chr22:24366644 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1012T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366644 | |||||||
chr22:24366647 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1015G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366647 | |||||||
chr22:24366648 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1016T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366648 | |||||||
chr22:24366651 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1019C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366651 | |||||||
chr22:24366653 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1021G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366653 | |||||||
chr22:24366654 | A | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1022A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366654 | |||||||
chr22:24366659 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1027T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366659 | |||||||
chr22:24366663 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1031A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366663 | |||||||
chr22:24366665 | A | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1033A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366665 | |||||||
chr22:24366666 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1034G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366666 | |||||||
chr22:24366667 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1035G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366667 | |||||||
chr22:24366668 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1036A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366668 | |||||||
chr22:24366680 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1048G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366680 | |||||||
chr22:24366690 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1058A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366690 | |||||||
chr22:24366696 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1064G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366696 | |||||||
chr22:24366697 | C | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1065C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366697 | |||||||
chr22:24366699 | G | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1067G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366699 | |||||||
chr22:24366705 | G | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1073G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366705 | |||||||
chr22:24366706 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1074T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366706 | |||||||
chr22:24366707 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1075T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366707 | |||||||
chr22:24366708 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1076T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366708 | |||||||
chr22:24366709 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1077A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366709 | |||||||
chr22:24366713 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1081T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366713 | |||||||
chr22:24366721 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1089T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366721 | |||||||
chr22:24366724 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1092G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366724 | |||||||
chr22:24366728 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1096G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366728 | |||||||
chr22:24366729 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1097T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366729 | |||||||
chr22:24366731 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1099G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366731 | |||||||
chr22:24366732 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1100T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366732 | |||||||
chr22:24366735 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1103T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366735 | |||||||
chr22:24366739 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1107T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366739 | |||||||
chr22:24366740 | T | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1108T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366740 | |||||||
chr22:24366742 | A | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1110A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366742 | |||||||
chr22:24366743 | T | A | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1111T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366743 | |||||||
chr22:24366745 | A | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1113A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366745 | |||||||
chr22:24366755 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1123A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366755 | |||||||
chr22:24366756 | G | T | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1124G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366756 | |||||||
chr22:24366757 | T | G | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2984+1125T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366757 | |||||||
chr22:24366854 | C | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2984+1222C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24366854 | |||||||
chr22:24367019 | C | T | 1 | a0001c0002t0002g0132 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2984+1387C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367019 | |||||||
chr22:24367121 | G | A | 7 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(4): Show |
7 | NA18941.hp1 NA18948.hp2 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.2984+1489G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367121 | |||||||
chr22:24367221 | G | A | 1 | a0001c0001t0004g0020 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.2984+1589G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367221 | |||||||
chr22:24367290 | C | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2984+1658C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367290 | |||||||
chr22:24367423 | A | AT | 8 | a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0141 others(5): Show |
8 | HG01891.hp2 HG02451.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.2985-1784dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | 24367423 | ||||||
chr22:24367508 | T | C | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(27): Show |
intron_variant | MODIFIER | c.2985-1710T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367508 | |||||||
chr22:24367544 | G | A | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2985-1674G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367544 | |||||||
chr22:24367977 | G | A | 1 | a0001c0002t0002g0107 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2985-1241G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24367977 | |||||||
chr22:24368019 | C | T | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2985-1199C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368019 | |||||||
chr22:24368052 | T | A | 1 | a0001c0001t0004g0019 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.2985-1166T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368052 | |||||||
chr22:24368113 | A | G | 2 | a0001c0001t0001g0218 a0001c0001t0001g0232 |
2 | HG00140.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.2985-1105A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368113 | |||||||
chr22:24368245 | A | G | 1 | a0001c0001t0023g0267 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2985-973A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368245 | |||||||
chr22:24368309 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2985-909G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368309 | |||||||
chr22:24368486 | G | T | 1 | a0001c0001t0004g0031 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2985-732G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368486 | |||||||
chr22:24368640 | G | T | 1 | a0001c0001t0001g0266 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2985-578G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368640 | |||||||
chr22:24368811 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2985-407T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368811 | |||||||
chr22:24368813 | A | G | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2985-405A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368813 | |||||||
chr22:24368831 | G | A | 5 | a0001c0002t0002g0088 a0001c0002t0002g0096 a0001c0002t0002g0097 others(2): Show |
5 | NA18966.hp1 NA18986.hp2 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.2985-387G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368831 | |||||||
chr22:24368943 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.2985-275G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24368943 | |||||||
chr22:24369036 | T | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2985-182T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24369036 | |||||||
chr22:24369084 | T | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.2985-134T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | chr22 | 24369084 | |||||||
chr22:24369411 | A | G | 1 | a0001c0001t0001g0248 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3087+91A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24369411 | |||||||
chr22:24369802 | A | T | 2 | a0001c0001t0008g0300 a0001c0001t0008g0302 |
2 | HG02735.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.3087+482A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24369802 | |||||||
chr22:24369896 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.3087+576A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24369896 | |||||||
chr22:24370356 | AAG | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3087+1040_3087+104 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24370356 | ||||||
chr22:24370406 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+1086G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370406 | |||||||
chr22:24370407 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+1087G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370407 | |||||||
chr22:24370411 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+1091A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370411 | |||||||
chr22:24370654 | C | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0262 |
2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.3087+1334C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370654 | |||||||
chr22:24370817 | A | G | 1 | a0003c0005t0001g0288 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3087+1497A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370817 | |||||||
chr22:24370989 | A | C | 1 | a0001c0001t0001g0247 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3087+1669A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24370989 | |||||||
chr22:24371018 | G | A | 182 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(179): Show |
183 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.3087+1698G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371018 | |||||||
chr22:24371131 | T | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+1811T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371131 | |||||||
chr22:24371513 | T | G | 5 | a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 others(2): Show |
5 | HG01243.hp1 HG02723.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.3087+2193T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371513 | |||||||
chr22:24371634 | T | G | 70 | a0001c0002t0001g0037 a0001c0002t0001g0117 a0001c0002t0001g0128 others(67): Show |
71 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.3087+2314T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371634 | |||||||
chr22:24371653 | G | A | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3087+2333G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371653 | |||||||
chr22:24371733 | C | T | 2 | a0001c0001t0003g0045 a0001c0001t0041g0191 |
2 | HG01981.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3087+2413C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371733 | |||||||
chr22:24371808 | G | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3087+2488G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371808 | |||||||
chr22:24371870 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+2550T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371870 | |||||||
chr22:24371953 | T | G | 5 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(2): Show |
5 | HG02055.hp2 HG02965.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.3087+2633T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371953 | |||||||
chr22:24371979 | C | T | 3 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 |
3 | HG03654.hp2 HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3087+2659C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24371979 | |||||||
chr22:24372016 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+2696C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372016 | |||||||
chr22:24372183 | G | A | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.3087+2863G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372183 | |||||||
chr22:24372290 | G | A | 1 | a0001c0001t0002g0079 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3087+2970G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372290 | |||||||
chr22:24372399 | C | T | 1 | a0001c0002t0021g0086 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3087+3079C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372399 | |||||||
chr22:24372400 | G | C | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.3087+3080G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372400 | |||||||
chr22:24372513 | G | A | 182 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(179): Show |
183 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.3087+3193G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372513 | |||||||
chr22:24372678 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+3358G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372678 | |||||||
chr22:24372679 | G | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+3359G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372679 | |||||||
chr22:24372681 | A | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+3361A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372681 | |||||||
chr22:24372684 | AAC | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+3365_3087+336 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372684 | |||||||
chr22:24372687 | T | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+3367T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372687 | |||||||
chr22:24372692 | G | A | 6 | a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0259 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.3087+3372G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372692 | |||||||
chr22:24372694 | G | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3087+3374G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372694 | |||||||
chr22:24372803 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+3483A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372803 | |||||||
chr22:24372854 | A | G | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.3087+3534A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24372854 | |||||||
chr22:24373064 | A | G | 1 | a0001c0001t0001g0046 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3087+3744A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373064 | |||||||
chr22:24373176 | A | G | 1 | a0002c0003t0001g0038 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.3087+3856A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373176 | |||||||
chr22:24373224 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+3904C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373224 | |||||||
chr22:24373334 | A | G | 2 | a0001c0001t0016g0054 a0001c0001t0017g0285 |
2 | HG02109.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3087+4014A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373334 | |||||||
chr22:24373336 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+4016A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373336 | |||||||
chr22:24373351 | A | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3087+4031A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373351 | |||||||
chr22:24373454 | C | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3087+4134C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373454 | |||||||
chr22:24373494 | TGACA | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+4178_3087+418 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24373494 | ||||||
chr22:24373596 | C | G | 2 | a0001c0004t0002g0113 a0001c0004t0002g0114 |
2 | HG02451.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3087+4276C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373596 | |||||||
chr22:24373703 | A | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+4383A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373703 | |||||||
chr22:24373709 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+4389G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373709 | |||||||
chr22:24373761 | G | C | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.3087+4441G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373761 | |||||||
chr22:24373958 | G | A | 4 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show |
4 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+4638G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24373958 | |||||||
chr22:24374192 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+4872A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374192 | |||||||
chr22:24374201 | A | G | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3087+4881A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374201 | |||||||
chr22:24374214 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+4894C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374214 | |||||||
chr22:24374272 | G | A | 141 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(138): Show |
142 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.3087+4952G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374272 | |||||||
chr22:24374316 | T | G | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3087+4996T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374316 | |||||||
chr22:24374478 | C | T | 1 | a0001c0002t0002g0136 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3087+5158C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374478 | |||||||
chr22:24374507 | C | G | 1 | a0001c0001t0013g0165 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.3087+5187C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374507 | |||||||
chr22:24374523 | C | CA | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.3087+5212dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24374523 | ||||||
chr22:24374636 | A | G | 1 | a0001c0001t0001g0242 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.3087+5316A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374636 | |||||||
chr22:24374740 | C | G | 10 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0223 others(7): Show |
10 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+5420C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374740 | |||||||
chr22:24374777 | A | T | 1 | a0001c0001t0004g0068 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3087+5457A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374777 | |||||||
chr22:24374908 | G | A | 1 | a0001c0001t0005g0310 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3087+5588G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24374908 | |||||||
chr22:24375012 | A | AC | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+5694dupC | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24375012 | ||||||
chr22:24375052 | C | T | 3 | a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0272 |
3 | HG01069.hp2 HG01071.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.3087+5732C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375052 | |||||||
chr22:24375318 | A | C | 1 | a0001c0001t0001g0307 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3087+5998A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375318 | |||||||
chr22:24375559 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+6239C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375559 | |||||||
chr22:24375714 | G | A | 1 | a0001c0001t0001g0246 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3087+6394G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375714 | |||||||
chr22:24375898 | T | C | 41 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(38): Show |
41 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(38): Show |
intron_variant | MODIFIER | c.3087+6578T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375898 | |||||||
chr22:24375954 | C | A | 116 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(113): Show |
116 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.3087+6634C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375954 | |||||||
chr22:24375970 | C | CA | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+6658dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24375970 | ||||||
chr22:24375979 | C | A | 1 | a0001c0001t0001g0242 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.3087+6659C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375979 | |||||||
chr22:24375987 | A | C | 76 | a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0002g0074 others(73): Show |
76 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.3087+6667A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24375987 | |||||||
chr22:24376016 | T | C | 1 | a0001c0001t0004g0065 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.3087+6696T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376016 | |||||||
chr22:24376018 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3087+6698A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376018 | |||||||
chr22:24376034 | C | A | 1 | a0001c0002t0002g0134 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3087+6714C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376034 | |||||||
chr22:24376105 | G | C | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+6785G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376105 | |||||||
chr22:24376308 | A | T | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3087+6988A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376308 | |||||||
chr22:24376410 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+7090C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376410 | |||||||
chr22:24376436 | T | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+7116T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376436 | |||||||
chr22:24376550 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+7230T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376550 | |||||||
chr22:24376666 | C | T | 1 | a0001c0001t0001g0263 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3087+7346C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376666 | |||||||
chr22:24376755 | A | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.3087+7435A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376755 | |||||||
chr22:24376799 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+7479A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376799 | |||||||
chr22:24376816 | GT | G | 12 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(9): Show |
12 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.3087+7508delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24376816 | ||||||
chr22:24376867 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+7547A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376867 | |||||||
chr22:24376885 | T | TA | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+7569dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24376885 | ||||||
chr22:24376996 | A | G | 1 | a0001c0002t0002g0109 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3087+7676A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24376996 | |||||||
chr22:24377314 | C | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3087+7994C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377314 | |||||||
chr22:24377325 | C | T | 2 | a0001c0001t0001g0048 a0001c0001t0001g0233 |
2 | HG02015.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.3087+8005C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377325 | |||||||
chr22:24377333 | G | A | 1 | a0001c0001t0001g0246 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3087+8013G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377333 | |||||||
chr22:24377461 | A | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3087+8141A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377461 | |||||||
chr22:24377609 | G | A | 1 | a0001c0001t0003g0197 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.3087+8289G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377609 | |||||||
chr22:24377657 | A | G | 2 | a0001c0002t0002g0007 a0001c0002t0002g0008 |
2 | HG00140.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.3087+8337A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377657 | |||||||
chr22:24377798 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+8478G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24377798 | |||||||
chr22:24378220 | A | G | 2 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.3087+8900A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378220 | |||||||
chr22:24378351 | A | G | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3087+9031A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378351 | |||||||
chr22:24378407 | A | G | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3087+9087A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378407 | |||||||
chr22:24378421 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+9101A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378421 | |||||||
chr22:24378450 | C | T | 20 | a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0001g0248 others(17): Show |
20 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(17): Show |
intron_variant | MODIFIER | c.3087+9130C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378450 | |||||||
chr22:24378529 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+9209G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378529 | |||||||
chr22:24378763 | T | C | 1 | a0001c0001t0023g0267 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3087+9443T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378763 | |||||||
chr22:24378804 | A | G | 1 | a0001c0001t0001g0264 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3087+9484A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378804 | |||||||
chr22:24378939 | C | T | 136 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3087+9619C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378939 | |||||||
chr22:24378981 | A | G | 1 | a0001c0001t0001g0268 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3087+9661A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378981 | |||||||
chr22:24378987 | C | T | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+9667C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24378987 | |||||||
chr22:24379102 | CTTAAA | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3087+9787_3087+979 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24379102 | ||||||
chr22:24379153 | C | T | 2 | a0001c0001t0003g0163 a0001c0001t0029g0009 |
2 | HG02015.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3087+9833C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379153 | |||||||
chr22:24379218 | T | A | 1 | a0002c0003t0002g0095 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3087+9898T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379218 | |||||||
chr22:24379218 | T | TA | 8 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(5): Show |
8 | HG00323.hp1 HG00735.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.3087+9909dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24379218 | ||||||
chr22:24379380 | C | T | 68 | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 others(65): Show |
69 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.3087+10060C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379380 | |||||||
chr22:24379381 | G | A | 12 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.3087+10061G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379381 | |||||||
chr22:24379390 | GA | G | 9 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(6): Show |
9 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.3087+10081delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24379390 | ||||||
chr22:24379406 | C | T | 2 | a0001c0001t0005g0311 a0001c0001t0005g0312 |
2 | HG01891.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.3087+10086C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379406 | |||||||
chr22:24379635 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+10315A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379635 | |||||||
chr22:24379676 | A | G | 136 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3087+10356A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379676 | |||||||
chr22:24379833 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.3087+10513A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379833 | |||||||
chr22:24379933 | G | A | 1 | a0001c0001t0001g0266 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3087+10613G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379933 | |||||||
chr22:24379972 | C | G | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3087+10652C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24379972 | |||||||
chr22:24380064 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+10744T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380064 | |||||||
chr22:24380472 | A | T | 1 | a0001c0001t0001g0049 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3087+11152A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380472 | |||||||
chr22:24380483 | G | T | 1 | a0001c0001t0003g0145 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3087+11163G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380483 | |||||||
chr22:24380527 | C | T | 1 | a0001c0001t0001g0254 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.3087+11207C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380527 | |||||||
chr22:24380672 | C | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+11352C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380672 | |||||||
chr22:24380861 | C | CT | 29 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show |
29 | HG00438.hp1 HG01070.hp2 HG02080.hp1 others(26): Show |
intron_variant | MODIFIER | c.3087+11548dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24380861 | ||||||
chr22:24380962 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3087+11642G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24380962 | |||||||
chr22:24381143 | A | G | 1 | a0001c0001t0007g0255 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3087+11823A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24381143 | |||||||
chr22:24381553 | T | C | 1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.3087+12233T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24381553 | |||||||
chr22:24381590 | A | G | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3087+12270A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24381590 | |||||||
chr22:24381641 | T | C | 73 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(70): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.3087+12321T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24381641 | |||||||
chr22:24381738 | G | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3087+12418G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24381738 | |||||||
chr22:24382016 | TA | T | 68 | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 others(65): Show |
69 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.3087+12705delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382016 | ||||||
chr22:24382150 | T | C | 2 | a0001c0001t0001g0218 a0001c0001t0001g0232 |
2 | HG00140.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.3087+12830T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24382150 | |||||||
chr22:24382362 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+13042A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24382362 | |||||||
chr22:24382662 | G | A | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3087+13342G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24382662 | |||||||
chr22:24382704 | C | CA | 137 | a0001c0001t0001g0049 a0001c0001t0001g0222 a0001c0001t0001g0247 others(134): Show |
138 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(135): Show |
intron_variant | MODIFIER | c.3087+13406dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382704 | ||||||
chr22:24382704 | C | CAA | 7 | a0001c0001t0002g0294 a0001c0001t0003g0044 a0001c0001t0003g0154 others(4): Show |
7 | HG00323.hp2 HG01175.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.3087+13405_3087+13 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382704 | ||||||
chr22:24382704 | CA | C | 10 | a0001c0001t0001g0062 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show |
10 | HG00639.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+13406delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382704 | ||||||
chr22:24382704 | CAAAAAA | C | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3087+13401_3087+13 others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382704 | ||||||
chr22:24382893 | AAAT | A | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3087+13576_3087+13 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24382893 | ||||||
chr22:24383032 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+13712A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383032 | |||||||
chr22:24383163 | A | T | 2 | a0001c0001t0001g0271 a0001c0001t0001g0272 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.3087+13843A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383163 | |||||||
chr22:24383316 | C | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+13996C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383316 | |||||||
chr22:24383424 | T | C | 1 | a0001c0001t0003g0162 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.3087+14104T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383424 | |||||||
chr22:24383560 | T | G | 1 | a0001c0001t0003g0158 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.3087+14240T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383560 | |||||||
chr22:24383744 | C | T | 1 | a0001c0002t0002g0118 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3087+14424C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383744 | |||||||
chr22:24383792 | A | ATT | 11 | a0001c0001t0001g0052 a0001c0001t0001g0206 a0001c0001t0002g0072 others(8): Show |
11 | HG00280.hp1 HG00609.hp2 HG01993.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+14511_3087+14 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTT | 11 | a0001c0001t0001g0063 a0001c0001t0001g0262 a0001c0001t0001g0274 others(8): Show |
11 | HG01167.hp2 HG01952.hp1 HG01975.hp1 others(8): Show |
intron_variant | MODIFIER | c.3087+14510_3087+14 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTT | 8 | a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0001g0246 others(5): Show |
8 | HG01884.hp1 HG02027.hp1 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.3087+14507_3087+14 others(12): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(3): Show |
6 | a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0233 others(3): Show |
6 | HG02015.hp1 HG03041.hp1 HG03239.hp1 others(3): Show |
intron_variant | MODIFIER | c.3087+14503_3087+14 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(4): Show |
5 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0248 others(2): Show |
5 | HG00323.hp1 HG02055.hp2 HG02080.hp2 others(2): Show |
intron_variant | MODIFIER | c.3087+14502_3087+14 others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(5): Show |
3 | a0001c0001t0001g0227 a0001c0001t0001g0251 a0001c0001t0001g0325 |
3 | HG00621.hp2 HG00741.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.3087+14501_3087+14 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(6): Show |
2 | a0001c0001t0001g0051 a0001c0001t0001g0249 |
2 | HG01243.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.3087+14500_3087+14 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(7): Show |
2 | a0001c0001t0001g0212 a0001c0001t0001g0265 |
2 | HG03041.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.3087+14499_3087+14 others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(8): Show |
2 | a0001c0001t0001g0050 a0001c0001t0001g0268 |
2 | HG03098.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3087+14498_3087+14 others(21): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(9): Show |
3 | a0001c0001t0001g0201 a0001c0001t0002g0283 a0001c0001t0037g0220 |
3 | HG01358.hp1 HG02895.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.3087+14497_3087+14 others(22): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(11): Show |
3 | a0001c0001t0001g0209 a0001c0001t0028g0282 a0003c0005t0001g0288 |
3 | HG00438.hp2 HG02132.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3087+14495_3087+14 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(15): Show |
1 | a0001c0001t0007g0255 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3087+14491_3087+14 others(28): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(17): Show |
1 | a0001c0001t0001g0049 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3087+14489_3087+14 others(30): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(21): Show |
1 | a0001c0001t0001g0010 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.3087+14485_3087+14 others(34): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(26): Show |
1 | a0001c0001t0001g0271 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.3087+14480_3087+14 others(39): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | A | ATTTTTTT others(28): Show |
1 | a0001c0001t0001g0272 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3087+14478_3087+14 others(41): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | AT | A | 12 | a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0221 others(9): Show |
12 | HG00544.hp2 HG02155.hp1 HG03195.hp1 others(9): Show |
intron_variant | MODIFIER | c.3087+14512delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATT | A | 8 | a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0253 others(5): Show |
8 | HG00738.hp2 HG01243.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.3087+14511_3087+14 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTT | A | 12 | a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0250 others(9): Show |
12 | HG00639.hp2 HG00735.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.3087+14510_3087+14 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTT | A | 8 | a0001c0001t0001g0218 a0001c0001t0001g0289 a0001c0001t0001g0290 others(5): Show |
8 | HG01346.hp2 HG02738.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.3087+14509_3087+14 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(3): Show |
A | 4 | a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0001t0014g0012 others(1): Show |
4 | HG02572.hp2 HG02717.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+14503_3087+14 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(4): Show |
A | 5 | a0001c0001t0001g0055 a0001c0001t0001g0204 a0001c0001t0001g0235 others(2): Show |
5 | HG01081.hp1 HG02965.hp2 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.3087+14502_3087+14 others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(5): Show |
A | 24 | a0001c0001t0001g0264 a0001c0001t0004g0014 a0001c0001t0004g0015 others(21): Show |
24 | HG00438.hp1 HG02080.hp1 HG03209.hp2 others(21): Show |
intron_variant | MODIFIER | c.3087+14501_3087+14 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(6): Show |
A | 2 | a0001c0001t0004g0019 a0007c0011t0005g0317 |
2 | HG03516.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.3087+14500_3087+14 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(7): Show |
A | 2 | a0001c0001t0005g0004 a0001c0008t0005g0316 |
2 | HG02559.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.3087+14499_3087+14 others(20): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(8): Show |
A | 8 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(5): Show |
8 | HG01070.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.3087+14498_3087+14 others(21): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(9): Show |
A | 1 | a0001c0001t0005g0310 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3087+14497_3087+14 others(22): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(11): Show |
A | 4 | a0001c0001t0009g0083 a0001c0001t0009g0085 a0001c0001t0012g0320 others(1): Show |
4 | HG02451.hp1 HG02572.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.3087+14495_3087+14 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(13): Show |
A | 13 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(10): Show |
13 | HG02027.hp2 HG02056.hp2 HG02074.hp1 others(10): Show |
intron_variant | MODIFIER | c.3087+14493_3087+14 others(26): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(14): Show |
A | 119 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(116): Show |
120 | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(117): Show |
intron_variant | MODIFIER | c.3087+14492_3087+14 others(27): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(15): Show |
A | 4 | a0001c0001t0003g0154 a0001c0002t0002g0089 a0001c0002t0010g0196 others(1): Show |
4 | HG00323.hp2 HG02451.hp2 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+14491_3087+14 others(28): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383792 | ATTTTTTT others(16): Show |
A | 1 | a0001c0001t0026g0231 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3087+14490_3087+14 others(29): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383792 | ||||||
chr22:24383881 | G | C | 1 | a0001c0001t0001g0307 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3087+14561G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383881 | |||||||
chr22:24383898 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+14578C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24383898 | |||||||
chr22:24383900 | A | AC | 4 | a0001c0001t0012g0320 a0001c0001t0012g0321 a0001c0001t0012g0322 others(1): Show |
4 | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+14582dupC | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24383900 | ||||||
chr22:24384112 | CAT | C | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3087+14794_3087+14 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24384112 | ||||||
chr22:24384136 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+14816A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384136 | |||||||
chr22:24384482 | T | C | 3 | a0001c0001t0001g0047 a0001c0001t0001g0201 a0001c0001t0001g0227 |
3 | HG00621.hp2 NA18942.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.3087+15162T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384482 | |||||||
chr22:24384499 | C | G | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3087+15179C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384499 | |||||||
chr22:24384533 | G | A | 19 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(16): Show |
19 | HG00438.hp1 HG02080.hp1 NA18939.hp1 others(16): Show |
intron_variant | MODIFIER | c.3087+15213G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384533 | |||||||
chr22:24384552 | A | T | 2 | a0001c0001t0008g0300 a0001c0001t0008g0302 |
2 | HG02735.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.3087+15232A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384552 | |||||||
chr22:24384612 | A | G | 136 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3087+15292A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384612 | |||||||
chr22:24384909 | A | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+15589A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24384909 | |||||||
chr22:24385057 | C | G | 1 | a0008c0010t0001g0056 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.3087+15737C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385057 | |||||||
chr22:24385062 | C | CA | 8 | a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(5): Show |
8 | HG00735.hp2 HG00741.hp1 HG01243.hp2 others(5): Show |
intron_variant | MODIFIER | c.3087+15756dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24385062 | ||||||
chr22:24385142 | C | A | 1 | a0001c0002t0002g0198 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3087+15822C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385142 | |||||||
chr22:24385436 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+16116G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385436 | |||||||
chr22:24385608 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+16288G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385608 | |||||||
chr22:24385712 | T | C | 203 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(200): Show |
204 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(201): Show |
intron_variant | MODIFIER | c.3087+16392T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385712 | |||||||
chr22:24385812 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+16492C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385812 | |||||||
chr22:24385828 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+16508G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385828 | |||||||
chr22:24385985 | A | G | 1 | a0001c0001t0002g0074 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3087+16665A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24385985 | |||||||
chr22:24386006 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3087+16686A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386006 | |||||||
chr22:24386067 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+16747G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386067 | |||||||
chr22:24386099 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+16779C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386099 | |||||||
chr22:24386116 | CA | C | 73 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(70): Show |
74 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.3087+16808delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24386116 | ||||||
chr22:24386394 | C | T | 1 | a0001c0001t0001g0230 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.3087+17074C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386394 | |||||||
chr22:24386485 | T | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+17165T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386485 | |||||||
chr22:24386596 | G | GTTA | 4 | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 others(1): Show |
4 | HG00140.hp2 HG02735.hp1 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.3087+17297_3087+17 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24386596 | ||||||
chr22:24386626 | C | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3087+17306C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386626 | |||||||
chr22:24386752 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+17432C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386752 | |||||||
chr22:24386764 | C | T | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3087+17444C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386764 | |||||||
chr22:24386889 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+17569C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386889 | |||||||
chr22:24386963 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+17643C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386963 | |||||||
chr22:24386985 | A | G | 5 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(2): Show |
5 | HG02055.hp2 HG02965.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.3087+17665A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24386985 | |||||||
chr22:24387488 | C | T | 1 | a0001c0001t0007g0256 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.3087+18168C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387488 | |||||||
chr22:24387541 | A | T | 9 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(6): Show |
9 | HG02074.hp1 HG02129.hp1 HG02155.hp2 others(6): Show |
intron_variant | MODIFIER | c.3087+18221A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387541 | |||||||
chr22:24387542 | T | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+18222T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387542 | |||||||
chr22:24387550 | G | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3087+18230G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387550 | |||||||
chr22:24387721 | A | G | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+18401A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387721 | |||||||
chr22:24387796 | A | G | 4 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show |
4 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+18476A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387796 | |||||||
chr22:24387804 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3087+18484A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387804 | |||||||
chr22:24387858 | A | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+18538A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24387858 | |||||||
chr22:24388063 | G | A | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3087+18743G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388063 | |||||||
chr22:24388080 | T | A | 2 | a0001c0001t0038g0147 a0001c0002t0002g0118 |
2 | HG01175.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.3087+18760T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388080 | |||||||
chr22:24388083 | A | T | 48 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(45): Show |
48 | HG00438.hp1 HG01167.hp1 HG01192.hp2 others(45): Show |
intron_variant | MODIFIER | c.3087+18763A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388083 | |||||||
chr22:24388130 | G | A | 1 | a0001c0001t0001g0264 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3087+18810G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388130 | |||||||
chr22:24388208 | A | G | 1 | a0001c0001t0003g0154 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3087+18888A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388208 | |||||||
chr22:24388227 | C | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3087+18907C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388227 | |||||||
chr22:24388287 | G | A | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3087+18967G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388287 | |||||||
chr22:24388320 | A | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3087+19000A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388320 | |||||||
chr22:24388336 | G | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+19016G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388336 | |||||||
chr22:24388336 | GT | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3087+19026delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24388336 | ||||||
chr22:24388413 | A | G | 1 | a0001c0001t0002g0296 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3087+19093A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388413 | |||||||
chr22:24388538 | A | G | 1 | a0001c0001t0001g0046 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3087+19218A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388538 | |||||||
chr22:24388561 | T | A | 1 | a0001c0002t0002g0126 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.3087+19241T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388561 | |||||||
chr22:24388647 | T | C | 2 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | HG00544.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.3087+19327T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388647 | |||||||
chr22:24388660 | A | C | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.3087+19340A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388660 | |||||||
chr22:24388788 | TA | T | 188 | a0001c0001t0001g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
intron_variant | MODIFIER | c.3087+19472delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24388788 | ||||||
chr22:24388973 | C | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3087+19653C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24388973 | |||||||
chr22:24389109 | A | AT | 95 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0063 others(92): Show |
96 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.3087+19811dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24389109 | ||||||
chr22:24389109 | A | ATT | 19 | a0001c0001t0001g0264 a0001c0001t0005g0309 a0001c0001t0005g0311 others(16): Show |
19 | HG01109.hp2 HG01175.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.3087+19810_3087+19 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24389109 | ||||||
chr22:24389197 | A | T | 1 | a0001c0001t0003g0140 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.3087+19877A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389197 | |||||||
chr22:24389249 | T | C | 1 | a0001c0001t0001g0234 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.3087+19929T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389249 | |||||||
chr22:24389511 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+20191C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389511 | |||||||
chr22:24389518 | G | GT | 17 | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0221 others(14): Show |
17 | HG00544.hp2 HG00673.hp1 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.3087+20212dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24389518 | ||||||
chr22:24389629 | C | T | 4 | a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0008g0303 others(1): Show |
4 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.3087+20309C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389629 | |||||||
chr22:24389667 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+20347A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389667 | |||||||
chr22:24389686 | G | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3087+20366G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389686 | |||||||
chr22:24389764 | G | C | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3087+20444G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389764 | |||||||
chr22:24389786 | A | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+20466A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389786 | |||||||
chr22:24389902 | A | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3087+20582A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389902 | |||||||
chr22:24389943 | T | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3087+20623T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24389943 | |||||||
chr22:24390135 | T | TA | 31 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(28): Show |
31 | HG00140.hp2 HG00438.hp1 HG02080.hp1 others(28): Show |
intron_variant | MODIFIER | c.3087+20831dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390135 | ||||||
chr22:24390135 | TA | T | 7 | a0001c0001t0001g0222 a0001c0001t0002g0297 a0001c0001t0003g0156 others(4): Show |
7 | HG01069.hp1 HG01070.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.3087+20831delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390135 | ||||||
chr22:24390195 | T | G | 2 | a0001c0001t0001g0274 a0001c0001t0001g0275 |
2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.3087+20875T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390195 | |||||||
chr22:24390347 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3087+21027C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390347 | |||||||
chr22:24390706 | A | C | 2 | a0001c0002t0002g0089 a0001c0002t0002g0108 |
2 | NA18957.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.3088-20882A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390706 | |||||||
chr22:24390767 | C | T | 2 | a0001c0001t0002g0283 a0001c0001t0002g0284 |
2 | HG02280.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.3088-20821C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390767 | |||||||
chr22:24390830 | G | C | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3088-20758G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390830 | |||||||
chr22:24390855 | T | TTTTTTTT others(6): Show |
10 | a0001c0001t0002g0294 a0001c0001t0003g0189 a0001c0001t0005g0312 others(7): Show |
10 | HG01261.hp2 HG02027.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-20722_3088-20 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390855 | ||||||
chr22:24390856 | T | TTTTTTTT others(5): Show |
72 | a0001c0001t0001g0289 a0001c0001t0002g0293 a0001c0001t0002g0295 others(69): Show |
73 | HG00140.hp2 HG00408.hp2 HG00741.hp2 others(70): Show |
intron_variant | MODIFIER | c.3088-20722_3088-20 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390856 | ||||||
chr22:24390856 | T | TTTTTTTT others(6): Show |
2 | a0001c0002t0002g0198 a0001c0002t0002g0306 |
2 | HG04204.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.3088-20722_3088-20 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390856 | ||||||
chr22:24390860 | T | TTTTTTTT others(1): Show |
13 | a0001c0001t0003g0044 a0001c0001t0003g0148 a0001c0001t0003g0154 others(10): Show |
13 | HG00323.hp2 HG00544.hp1 HG00673.hp2 others(10): Show |
intron_variant | MODIFIER | c.3088-20722_3088-20 others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390860 | ||||||
chr22:24390861 | T | TTTTTTTC | 43 | a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0070 others(40): Show |
43 | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.3088-20722_3088-20 others(13): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390861 | ||||||
chr22:24390862 | T | TTTTTTCT others(10): Show |
1 | a0001c0001t0005g0313 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3088-20722_3088-20 others(23): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390862 | ||||||
chr22:24390862 | T | TTTTTTTC others(11): Show |
1 | a0001c0001t0005g0311 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3088-20722_3088-20 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390862 | ||||||
chr22:24390867 | C | T | 58 | a0001c0001t0001g0062 a0001c0001t0003g0043 a0001c0001t0003g0044 others(55): Show |
58 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(55): Show |
intron_variant | MODIFIER | c.3088-20721C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390867 | |||||||
chr22:24390868 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-20720T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390868 | |||||||
chr22:24390870 | T | TTTTTTTT others(6): Show |
4 | a0001c0001t0009g0085 a0001c0001t0012g0320 a0001c0001t0012g0321 others(1): Show |
4 | HG01891.hp2 HG02451.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-20717_3088-20 others(19): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390870 | ||||||
chr22:24390871 | T | TTTTTTTC others(5): Show |
6 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(3): Show |
6 | HG01346.hp1 HG01884.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.3088-20717_3088-20 others(18): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390871 | |||||||
chr22:24390872 | C | CT | 26 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 others(23): Show |
26 | HG00438.hp2 HG00738.hp2 HG01069.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-20690dupT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390872 | ||||||
chr22:24390872 | C | CTT | 9 | a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 others(6): Show |
9 | HG02559.hp1 HG02647.hp1 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.3088-20691_3088-20 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390872 | ||||||
chr22:24390872 | C | T | 45 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(42): Show |
45 | HG00438.hp1 HG00639.hp1 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.3088-20716C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390872 | |||||||
chr22:24390872 | CT | C | 56 | a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 others(53): Show |
57 | HG00140.hp2 HG00408.hp2 HG00741.hp2 others(54): Show |
intron_variant | MODIFIER | c.3088-20690delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390872 | ||||||
chr22:24390873 | T | TTTTTCTT others(3): Show |
27 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show |
27 | HG00438.hp1 HG00639.hp1 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.3088-20711_3088-20 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390873 | ||||||
chr22:24390874 | T | TTTC | 55 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.3088-20712_3088-20 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24390874 | ||||||
chr22:24390878 | T | TCTTTTCT others(4): Show |
1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-20710_3088-20 others(17): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390878 | |||||||
chr22:24390881 | T | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-20707T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390881 | |||||||
chr22:24390882 | T | C | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-20706T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390882 | |||||||
chr22:24390883 | T | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-20705T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390883 | |||||||
chr22:24390888 | T | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-20700T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390888 | |||||||
chr22:24390906 | A | G | 1 | a0001c0001t0009g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3088-20682A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24390906 | |||||||
chr22:24391013 | T | C | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3088-20575T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391013 | |||||||
chr22:24391027 | C | T | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3088-20561C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391027 | |||||||
chr22:24391121 | C | G | 1 | a0001c0002t0002g0006 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3088-20467C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391121 | |||||||
chr22:24391290 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-20298G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391290 | |||||||
chr22:24391347 | T | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-20241T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391347 | |||||||
chr22:24391394 | T | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-20194T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391394 | |||||||
chr22:24391526 | CAG | C | 12 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(9): Show |
12 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.3088-20061_3088-20 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391526 | |||||||
chr22:24391667 | G | A | 2 | a0001c0001t0001g0211 a0001c0001t0001g0225 |
2 | HG00735.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.3088-19921G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391667 | |||||||
chr22:24391823 | T | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-19765T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391823 | |||||||
chr22:24391866 | A | T | 1 | a0001c0001t0008g0301 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.3088-19722A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391866 | |||||||
chr22:24391938 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-19650G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24391938 | |||||||
chr22:24392086 | A | G | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-19502A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392086 | |||||||
chr22:24392195 | A | G | 1 | a0001c0001t0001g0055 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3088-19393A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392195 | |||||||
chr22:24392296 | A | G | 1 | a0001c0001t0017g0285 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3088-19292A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392296 | |||||||
chr22:24392317 | C | CTAAA | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-19270_3088-19 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24392317 | ||||||
chr22:24392324 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3088-19264T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392324 | |||||||
chr22:24392324 | TATC | T | 4 | a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show |
4 | HG01891.hp1 HG02109.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-19260_3088-19 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24392324 | ||||||
chr22:24392419 | A | G | 3 | a0001c0001t0005g0004 a0001c0008t0005g0316 a0007c0011t0005g0317 |
3 | HG02559.hp2 HG02895.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3088-19169A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392419 | |||||||
chr22:24392729 | A | C | 2 | a0001c0001t0001g0324 a0001c0001t0001g0325 |
2 | HG01433.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.3088-18859A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392729 | |||||||
chr22:24392822 | A | G | 1 | a0001c0001t0005g0309 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3088-18766A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392822 | |||||||
chr22:24392941 | T | C | 1 | a0001c0001t0022g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3088-18647T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392941 | |||||||
chr22:24392985 | C | T | 1 | a0001c0001t0024g0205 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.3088-18603C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24392985 | |||||||
chr22:24393000 | G | A | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-18588G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393000 | |||||||
chr22:24393020 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-18568A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393020 | |||||||
chr22:24393111 | ATAGGCGC others(8): Show |
A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-18476_3088-18 others(21): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393111 | |||||||
chr22:24393117 | G | A | 3 | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0024g0205 |
3 | NA18959.hp1 NA18990.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.3088-18471G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393117 | |||||||
chr22:24393356 | G | A | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3088-18232G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393356 | |||||||
chr22:24393397 | G | A | 1 | a0001c0001t0004g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.3088-18191G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393397 | |||||||
chr22:24393539 | T | C | 11 | a0001c0001t0009g0071 a0001c0001t0009g0082 a0001c0001t0009g0083 others(8): Show |
11 | HG01346.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.3088-18049T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393539 | |||||||
chr22:24393575 | A | G | 1 | a0001c0001t0004g0035 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.3088-18013A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393575 | |||||||
chr22:24393596 | C | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-17992C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393596 | |||||||
chr22:24393664 | T | C | 314 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0046 others(311): Show |
315 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(312): Show |
intron_variant | MODIFIER | c.3088-17924T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393664 | |||||||
chr22:24393685 | A | G | 2 | a0001c0001t0001g0218 a0001c0001t0001g0232 |
2 | HG00140.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.3088-17903A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393685 | |||||||
chr22:24393839 | C | G | 1 | a0004c0012t0001g0215 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3088-17749C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24393839 | |||||||
chr22:24394115 | T | A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17473T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394115 | |||||||
chr22:24394139 | T | G | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17449T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394139 | |||||||
chr22:24394140 | G | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17448G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394140 | |||||||
chr22:24394141 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17447A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394141 | |||||||
chr22:24394145 | T | A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17443T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394145 | |||||||
chr22:24394148 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17440A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394148 | |||||||
chr22:24394154 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17434A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394154 | |||||||
chr22:24394157 | T | G | 1 | a0001c0001t0001g0207 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.3088-17431T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394157 | |||||||
chr22:24394162 | A | G | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-17426A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394162 | |||||||
chr22:24394168 | T | A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17420T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394168 | |||||||
chr22:24394170 | T | A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17418T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394170 | |||||||
chr22:24394184 | G | A | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17404G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394184 | |||||||
chr22:24394185 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17403A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394185 | |||||||
chr22:24394204 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17384A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394204 | |||||||
chr22:24394220 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17368A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394220 | |||||||
chr22:24394224 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17364A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394224 | |||||||
chr22:24394226 | A | C | 1 | a0001c0001t0002g0060 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3088-17362A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394226 | |||||||
chr22:24394404 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-17184C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394404 | |||||||
chr22:24394432 | G | A | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3088-17156G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394432 | |||||||
chr22:24394441 | C | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-17147C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394441 | |||||||
chr22:24394507 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-17081A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394507 | |||||||
chr22:24394565 | G | C | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-17023G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394565 | |||||||
chr22:24394625 | A | G | 1 | a0001c0001t0001g0046 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3088-16963A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394625 | |||||||
chr22:24394688 | G | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-16900G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394688 | |||||||
chr22:24394760 | G | A | 2 | a0001c0002t0002g0089 a0001c0002t0002g0108 |
2 | NA18957.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.3088-16828G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394760 | |||||||
chr22:24394788 | T | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-16800T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394788 | |||||||
chr22:24394800 | A | G | 2 | a0001c0001t0009g0085 a0001c0001t0022g0081 |
2 | HG02572.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.3088-16788A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24394800 | |||||||
chr22:24395244 | C | A | 1 | a0008c0010t0001g0056 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.3088-16344C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395244 | |||||||
chr22:24395510 | T | C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-16078T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395510 | |||||||
chr22:24395538 | AG | A | 135 | a0001c0001t0001g0242 a0001c0001t0001g0289 a0001c0001t0002g0293 others(132): Show |
136 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.3088-16048delG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24395538 | ||||||
chr22:24395657 | A | G | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-15931A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395657 | |||||||
chr22:24395670 | C | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-15918C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395670 | |||||||
chr22:24395699 | G | A | 2 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | HG00544.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.3088-15889G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395699 | |||||||
chr22:24395795 | C | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0262 |
2 | HG04115.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.3088-15793C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395795 | |||||||
chr22:24395797 | T | C | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-15791T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395797 | |||||||
chr22:24395841 | A | G | 1 | a0001c0001t0003g0161 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.3088-15747A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24395841 | |||||||
chr22:24396036 | T | G | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3088-15552T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396036 | |||||||
chr22:24396295 | GT | G | 181 | a0001c0001t0001g0242 a0001c0001t0001g0289 a0001c0001t0002g0293 others(178): Show |
182 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(179): Show |
intron_variant | MODIFIER | c.3088-15281delT | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24396295 | ||||||
chr22:24396305 | T | G | 29 | a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0001t0001g0059 others(26): Show |
29 | HG00735.hp2 HG01070.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.3088-15283T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396305 | |||||||
chr22:24396371 | C | T | 5 | a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 others(2): Show |
5 | HG01069.hp1 HG01109.hp2 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.3088-15217C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396371 | |||||||
chr22:24396423 | G | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0210 |
2 | HG01081.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3088-15165G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396423 | |||||||
chr22:24396454 | C | A | 1 | a0001c0001t0031g0278 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3088-15134C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396454 | |||||||
chr22:24396498 | A | G | 2 | a0001c0001t0003g0168 a0001c0001t0003g0195 |
2 | HG00621.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.3088-15090A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396498 | |||||||
chr22:24396549 | C | T | 5 | a0001c0002t0002g0003 a0001c0002t0002g0092 a0001c0002t0002g0139 others(2): Show |
5 | HG02615.hp1 HG02622.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-15039C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396549 | |||||||
chr22:24396578 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-15010G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396578 | |||||||
chr22:24396695 | A | T | 6 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(3): Show |
6 | HG00323.hp1 HG00738.hp1 HG00741.hp1 others(3): Show |
intron_variant | MODIFIER | c.3088-14893A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396695 | |||||||
chr22:24396727 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3088-14861T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396727 | |||||||
chr22:24396728 | G | T | 1 | a0001c0001t0001g0265 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3088-14860G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396728 | |||||||
chr22:24396798 | A | G | 319 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0046 others(316): Show |
320 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.3088-14790A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24396798 | |||||||
chr22:24397016 | T | C | 4 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(1): Show |
4 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-14572T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397016 | |||||||
chr22:24397226 | G | T | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-14362G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397226 | |||||||
chr22:24397237 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-14351G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397237 | |||||||
chr22:24397252 | G | A | 2 | a0001c0001t0001g0214 a0005c0007t0032g0119 |
2 | HG01952.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.3088-14336G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397252 | |||||||
chr22:24397271 | C | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-14317C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397271 | |||||||
chr22:24397322 | C | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3088-14266C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397322 | |||||||
chr22:24397323 | T | C | 1 | a0001c0001t0040g0169 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.3088-14265T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397323 | |||||||
chr22:24397408 | G | C | 2 | a0001c0001t0004g0032 a0001c0001t0004g0033 |
2 | HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3088-14180G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397408 | |||||||
chr22:24397442 | T | C | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3088-14146T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397442 | |||||||
chr22:24397644 | A | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3088-13944A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397644 | |||||||
chr22:24397656 | T | A | 1 | a0001c0002t0002g0096 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.3088-13932T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397656 | |||||||
chr22:24397748 | A | G | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3088-13840A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397748 | |||||||
chr22:24397774 | T | C | 1 | a0001c0001t0002g0076 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3088-13814T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397774 | |||||||
chr22:24397825 | T | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-13763T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397825 | |||||||
chr22:24397892 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-13696G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397892 | |||||||
chr22:24397924 | G | C | 52 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(49): Show |
52 | HG00438.hp1 HG01070.hp2 HG01167.hp1 others(49): Show |
intron_variant | MODIFIER | c.3088-13664G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24397924 | |||||||
chr22:24398190 | A | G | 1 | a0001c0001t0001g0053 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3088-13398A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398190 | |||||||
chr22:24398218 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-13370G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398218 | |||||||
chr22:24398226 | C | T | 2 | a0001c0001t0001g0239 a0001c0001t0001g0245 |
2 | NA18974.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.3088-13362C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398226 | |||||||
chr22:24398305 | A | ATCAT | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-13281_3088-13 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24398305 | ||||||
chr22:24398391 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-13197A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398391 | |||||||
chr22:24398513 | T | C | 1 | a0001c0001t0003g0186 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.3088-13075T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398513 | |||||||
chr22:24398608 | G | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-12980G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398608 | |||||||
chr22:24398772 | A | G | 1 | a0004c0012t0001g0215 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3088-12816A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398772 | |||||||
chr22:24398942 | A | C | 6 | a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 others(3): Show |
6 | HG02735.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.3088-12646A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24398942 | |||||||
chr22:24399029 | C | T | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-12559C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399029 | |||||||
chr22:24399297 | A | G | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-12291A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399297 | |||||||
chr22:24399438 | C | T | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-12150C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399438 | |||||||
chr22:24399469 | C | T | 2 | a0001c0002t0002g0007 a0001c0002t0002g0008 |
2 | HG00140.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.3088-12119C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399469 | |||||||
chr22:24399628 | G | A | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-11960G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399628 | |||||||
chr22:24399702 | G | A | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3088-11886G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399702 | |||||||
chr22:24399796 | G | A | 16 | a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0265 others(13): Show |
16 | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.3088-11792G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399796 | |||||||
chr22:24399797 | T | C | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-11791T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399797 | |||||||
chr22:24399946 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-11642C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399946 | |||||||
chr22:24399964 | G | T | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-11624G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24399964 | |||||||
chr22:24400067 | T | C | 1 | a0001c0002t0002g0093 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.3088-11521T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400067 | |||||||
chr22:24400322 | G | A | 188 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
intron_variant | MODIFIER | c.3088-11266G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400322 | |||||||
chr22:24400359 | A | G | 1 | a0001c0002t0002g0136 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3088-11229A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400359 | |||||||
chr22:24400361 | G | A | 1 | a0001c0002t0002g0131 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3088-11227G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400361 | |||||||
chr22:24400553 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-11035A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400553 | |||||||
chr22:24400622 | T | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-10966T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24400622 | |||||||
chr22:24401054 | G | A | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-10534G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401054 | |||||||
chr22:24401210 | T | G | 1 | a0001c0001t0039g0149 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.3088-10378T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401210 | |||||||
chr22:24401313 | C | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-10275C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401313 | |||||||
chr22:24401356 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-10232G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401356 | |||||||
chr22:24401357 | G | C | 9 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(6): Show |
9 | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3088-10231G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401357 | |||||||
chr22:24401410 | C | G | 5 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(2): Show |
5 | HG01109.hp1 HG02486.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.3088-10178C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401410 | |||||||
chr22:24401702 | A | G | 1 | a0001c0001t0001g0250 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3088-9886A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401702 | |||||||
chr22:24401789 | G | C | 1 | a0002c0003t0002g0100 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.3088-9799G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24401789 | |||||||
chr22:24402003 | C | T | 1 | a0001c0001t0007g0259 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3088-9585C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24402003 | |||||||
chr22:24402097 | G | GCTTCCCC others(3): Show |
75 | a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0050 others(72): Show |
75 | HG00323.hp1 HG00673.hp1 HG00735.hp2 others(72): Show |
intron_variant | MODIFIER | c.3088-9449_3088-944 others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402097 | ||||||
chr22:24402097 | G | GCTTCCCC others(13): Show |
128 | a0001c0001t0002g0061 a0001c0001t0002g0076 a0001c0001t0002g0080 others(125): Show |
129 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(126): Show |
intron_variant | MODIFIER | c.3088-9459_3088-944 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402097 | ||||||
chr22:24402097 | G | GCTTCCCC others(23): Show |
7 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(4): Show |
7 | HG00544.hp1 HG02055.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.3088-9469_3088-944 others(34): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402097 | ||||||
chr22:24402097 | GCTTCCCC others(3): Show |
G | 30 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(27): Show |
30 | HG00438.hp1 HG01070.hp2 HG01884.hp2 others(27): Show |
intron_variant | MODIFIER | c.3088-9449_3088-944 others(14): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402097 | ||||||
chr22:24402121 | C | CCCCTTCC others(12): Show |
1 | a0001c0001t0006g0177 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.3088-9463_3088-944 others(23): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402121 | ||||||
chr22:24402130 | T | TCCCCTTC others(15): Show |
1 | a0001c0001t0003g0188 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.3088-9451_3088-945 others(26): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402130 | ||||||
chr22:24402139 | T | TTCCCCTT others(13): Show |
1 | a0001c0001t0001g0280 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3088-9440_3088-943 others(24): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402139 | ||||||
chr22:24402447 | CCTCA | C | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-9136_3088-913 others(8): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24402447 | ||||||
chr22:24402485 | G | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-9103G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24402485 | |||||||
chr22:24402780 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-8808C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24402780 | |||||||
chr22:24403109 | T | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-8479T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403109 | |||||||
chr22:24403215 | T | C | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3088-8373T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403215 | |||||||
chr22:24403472 | C | T | 1 | a0001c0002t0010g0090 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.3088-8116C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403472 | |||||||
chr22:24403473 | C | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-8115C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403473 | |||||||
chr22:24403595 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-7993G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403595 | |||||||
chr22:24403823 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-7765G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24403823 | |||||||
chr22:24404000 | G | A | 1 | a0001c0001t0002g0072 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3088-7588G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404000 | |||||||
chr22:24404136 | T | C | 1 | a0001c0001t0001g0325 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3088-7452T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404136 | |||||||
chr22:24404304 | G | A | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-7284G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404304 | |||||||
chr22:24404369 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-7219A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404369 | |||||||
chr22:24404394 | G | A | 1 | a0003c0005t0001g0287 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3088-7194G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404394 | |||||||
chr22:24404506 | C | T | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-7082C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404506 | |||||||
chr22:24404517 | A | G | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3088-7071A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404517 | |||||||
chr22:24404534 | A | G | 4 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(1): Show |
4 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-7054A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404534 | |||||||
chr22:24404696 | A | C | 1 | a0001c0002t0002g0136 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3088-6892A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404696 | |||||||
chr22:24404713 | C | T | 2 | a0001c0001t0004g0032 a0001c0001t0004g0033 |
2 | HG03834.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3088-6875C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404713 | |||||||
chr22:24404792 | A | C | 1 | a0002c0003t0002g0095 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3088-6796A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404792 | |||||||
chr22:24404817 | T | C | 1 | a0001c0001t0026g0231 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3088-6771T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404817 | |||||||
chr22:24404949 | A | G | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-6639A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404949 | |||||||
chr22:24404982 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-6606C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24404982 | |||||||
chr22:24405062 | G | T | 1 | a0001c0001t0004g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.3088-6526G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405062 | |||||||
chr22:24405109 | G | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-6479G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405109 | |||||||
chr22:24405180 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-6408G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405180 | |||||||
chr22:24405209 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-6379C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405209 | |||||||
chr22:24405256 | C | T | 1 | a0001c0001t0003g0140 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.3088-6332C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405256 | |||||||
chr22:24405375 | A | G | 7 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(4): Show |
7 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.3088-6213A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405375 | |||||||
chr22:24405380 | A | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-6208A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405380 | |||||||
chr22:24405399 | C | T | 15 | a0001c0001t0002g0061 a0001c0002t0002g0039 a0001c0002t0002g0088 others(12): Show |
15 | HG00408.hp2 HG02056.hp2 NA18944.hp1 others(12): Show |
intron_variant | MODIFIER | c.3088-6189C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405399 | |||||||
chr22:24405567 | C | T | 60 | a0001c0001t0002g0061 a0001c0002t0002g0001 a0001c0002t0002g0005 others(57): Show |
61 | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.3088-6021C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405567 | |||||||
chr22:24405670 | T | G | 4 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(1): Show |
4 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-5918T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405670 | |||||||
chr22:24405720 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-5868A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405720 | |||||||
chr22:24405729 | A | C | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-5859A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405729 | |||||||
chr22:24405770 | C | T | 1 | a0001c0001t0041g0191 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3088-5818C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405770 | |||||||
chr22:24405838 | CA | C | 183 | a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0272 others(180): Show |
184 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.3088-5735delA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24405838 | ||||||
chr22:24405896 | C | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3088-5692C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405896 | |||||||
chr22:24405987 | C | T | 3 | a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 |
3 | NA19010.hp2 NA19054.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.3088-5601C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24405987 | |||||||
chr22:24406139 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-5449G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406139 | |||||||
chr22:24406202 | A | G | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-5386A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406202 | |||||||
chr22:24406517 | C | T | 4 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(1): Show |
4 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.3088-5071C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406517 | |||||||
chr22:24406596 | G | A | 136 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3088-4992G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406596 | |||||||
chr22:24406763 | G | A | 5 | a0001c0001t0014g0012 a0001c0001t0014g0013 a0001c0001t0029g0009 others(2): Show |
5 | HG01070.hp2 HG02572.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-4825G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406763 | |||||||
chr22:24406812 | G | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-4776G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406812 | |||||||
chr22:24406925 | G | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-4663G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24406925 | |||||||
chr22:24407017 | G | C | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-4571G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407017 | |||||||
chr22:24407088 | T | C | 1 | a0001c0001t0003g0162 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.3088-4500T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407088 | |||||||
chr22:24407111 | C | T | 1 | a0001c0001t0012g0323 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3088-4477C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407111 | |||||||
chr22:24407307 | T | A | 5 | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(2): Show |
5 | HG02055.hp1 HG03098.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3088-4281T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407307 | |||||||
chr22:24407546 | C | T | 1 | a0001c0008t0005g0316 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.3088-4042C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407546 | |||||||
chr22:24407700 | C | A | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-3888C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407700 | |||||||
chr22:24407738 | C | G | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-3850C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407738 | |||||||
chr22:24407971 | C | G | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3088-3617C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24407971 | |||||||
chr22:24408001 | G | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-3587G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408001 | |||||||
chr22:24408009 | T | A | 1 | a0001c0002t0002g0109 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3088-3579T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408009 | |||||||
chr22:24408020 | C | T | 1 | a0001c0001t0004g0030 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.3088-3568C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408020 | |||||||
chr22:24408030 | C | T | 1 | a0001c0002t0002g0003 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3088-3558C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408030 | |||||||
chr22:24408060 | G | A | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-3528G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408060 | |||||||
chr22:24408113 | G | T | 18 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 others(15): Show |
18 | HG00673.hp1 HG01952.hp1 HG01975.hp2 others(15): Show |
intron_variant | MODIFIER | c.3088-3475G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408113 | |||||||
chr22:24408204 | A | G | 1 | a0001c0001t0003g0167 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3088-3384A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408204 | |||||||
chr22:24408229 | T | C | 1 | a0001c0002t0002g0066 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.3088-3359T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408229 | |||||||
chr22:24408401 | A | G | 1 | a0001c0001t0001g0269 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3088-3187A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408401 | |||||||
chr22:24408554 | G | A | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3088-3034G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408554 | |||||||
chr22:24408687 | C | T | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-2901C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408687 | |||||||
chr22:24408860 | C | G | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-2728C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408860 | |||||||
chr22:24408983 | G | A | 1 | a0001c0001t0001g0248 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3088-2605G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24408983 | |||||||
chr22:24409092 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-2496C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409092 | |||||||
chr22:24409140 | T | C | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3088-2448T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409140 | |||||||
chr22:24409241 | T | C | 1 | a0001c0002t0018g0130 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3088-2347T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409241 | |||||||
chr22:24409353 | G | A | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-2235G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409353 | |||||||
chr22:24409435 | A | G | 1 | a0001c0001t0001g0238 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.3088-2153A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409435 | |||||||
chr22:24409515 | A | G | 1 | a0001c0001t0001g0202 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.3088-2073A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409515 | |||||||
chr22:24409987 | C | T | 1 | a0001c0001t0005g0004 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3088-1601C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24409987 | |||||||
chr22:24410141 | G | T | 2 | a0001c0001t0014g0012 a0001c0001t0014g0013 |
2 | HG02572.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3088-1447G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410141 | |||||||
chr22:24410184 | G | T | 1 | a0001c0001t0003g0153 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.3088-1404G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410184 | |||||||
chr22:24410314 | G | A | 1 | a0001c0001t0001g0235 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3088-1274G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410314 | |||||||
chr22:24410675 | T | C | 1 | a0001c0002t0002g0134 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3088-913T>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410675 | |||||||
chr22:24410696 | A | G | 1 | a0001c0009t0034g0067 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3088-892A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410696 | |||||||
chr22:24410756 | G | GTGTCATT others(7): Show |
1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3088-831_3088-818d others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24410756 | ||||||
chr22:24410836 | G | T | 188 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
intron_variant | MODIFIER | c.3088-752G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410836 | |||||||
chr22:24410924 | C | T | 4 | a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0279 others(1): Show |
4 | HG02647.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3088-664C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410924 | |||||||
chr22:24410946 | C | G | 1 | a0001c0001t0001g0239 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3088-642C>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24410946 | |||||||
chr22:24411030 | C | CA | 5 | a0001c0001t0001g0002 a0001c0002t0002g0132 a0001c0002t0002g0133 others(2): Show |
5 | HG01069.hp1 HG01109.hp2 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.3088-549dupA | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24411030 | ||||||
chr22:24411222 | A | AG | 136 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3088-359dupG | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 24411222 | ||||||
chr22:24411231 | C | T | 1 | a0001c0001t0035g0011 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3088-357C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411231 | |||||||
chr22:24411240 | C | A | 1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3088-348C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411240 | |||||||
chr22:24411267 | C | T | 136 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3088-321C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411267 | |||||||
chr22:24411353 | A | G | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3088-235A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411353 | |||||||
chr22:24411375 | G | T | 63 | a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 others(60): Show |
63 | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.3088-213G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411375 | |||||||
chr22:24411390 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-198C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411390 | |||||||
chr22:24411446 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3088-142C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411446 | |||||||
chr22:24411538 | A | C | 1 | a0006c0006t0019g0069 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3088-50A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | chr22 | 24411538 | |||||||
chr22:24411812 | G | A | 1 | a0001c0001t0001g0250 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3204+108G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24411812 | |||||||
chr22:24411834 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.3204+130C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24411834 | |||||||
chr22:24411978 | G | C | 2 | a0001c0001t0001g0202 a0001c0001t0001g0204 |
2 | NA18959.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.3204+274G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24411978 | |||||||
chr22:24412009 | G | C | 11 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(8): Show |
11 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.3204+305G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24412009 | |||||||
chr22:24412248 | A | C | 1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3205-400A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24412248 | |||||||
chr22:24412249 | C | A | 1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3205-399C>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24412249 | |||||||
chr22:24412398 | A | G | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3205-250A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24412398 | |||||||
chr22:24412467 | G | A | 136 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3205-181G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 15/16 | chr22 | 24412467 | |||||||
chr22:24412808 | G | C | 1 | a0001c0002t0002g0088 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.3264+101G>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24412808 | |||||||
chr22:24412913 | T | A | 1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3264+206T>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24412913 | |||||||
chr22:24412915 | TCACGTGA others(2): Show |
T | 136 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.3264+212_3264+220d others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 24412915 | ||||||
chr22:24413025 | G | A | 188 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
intron_variant | MODIFIER | c.3264+318G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413025 | |||||||
chr22:24413063 | A | G | 1 | a0001c0001t0005g0310 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3264+356A>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413063 | |||||||
chr22:24413068 | G | T | 2 | a0001c0001t0008g0300 a0001c0001t0008g0302 |
2 | HG02735.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.3264+361G>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413068 | |||||||
chr22:24413170 | G | A | 1 | a0001c0002t0002g0092 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3264+463G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413170 | |||||||
chr22:24413240 | G | A | 1 | a0001c0002t0002g0318 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.3264+533G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413240 | |||||||
chr22:24413313 | C | T | 1 | a0001c0001t0003g0151 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3264+606C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413313 | |||||||
chr22:24413404 | C | T | 26 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(23): Show |
26 | HG00438.hp1 HG02080.hp1 HG02965.hp2 others(23): Show |
intron_variant | MODIFIER | c.3264+697C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413404 | |||||||
chr22:24413521 | G | A | 188 | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
intron_variant | MODIFIER | c.3264+814G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413521 | |||||||
chr22:24413610 | A | C | 1 | a0002c0003t0002g0100 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.3264+903A>C | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413610 | |||||||
chr22:24413616 | T | G | 1 | a0002c0003t0002g0100 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.3264+909T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413616 | |||||||
chr22:24413623 | G | A | 2 | a0001c0002t0002g0089 a0001c0002t0002g0108 |
2 | NA18957.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.3265-911G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413623 | |||||||
chr22:24413844 | G | A | 10 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.3265-690G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413844 | |||||||
chr22:24413849 | C | T | 25 | a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(22): Show |
25 | HG00438.hp1 HG02080.hp1 HG03654.hp2 others(22): Show |
intron_variant | MODIFIER | c.3265-685C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413849 | |||||||
chr22:24413883 | G | A | 1 | a0001c0001t0002g0077 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3265-651G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413883 | |||||||
chr22:24413996 | G | A | 1 | a0001c0001t0036g0034 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.3265-538G>A | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24413996 | |||||||
chr22:24414005 | A | T | 1 | a0001c0001t0001g0245 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3265-529A>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24414005 | |||||||
chr22:24414050 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3265-484C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24414050 | |||||||
chr22:24414171 | T | G | 1 | a0001c0002t0002g0125 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3265-363T>G | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24414171 | |||||||
chr22:24414515 | C | T | 1 | a0001c0001t0029g0009 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3265-19C>T | SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | chr22 | 24414515 |