Item | Value |
---|---|
geneid | 9791 |
ensemblid | ENSG00000156471.13 |
hgncid | 9587 |
symbol | PTDSS1 |
name | phosphatidylserine synthase 1 |
refseq_nuc | NM_014754.3 |
refseq_prot | NP_055569.1 |
ensembl_nuc | ENST00000517309.6 |
ensembl_prot | ENSP00000430548.1 |
mane_status | MANE Select |
chr | chr8 |
start | 96261902 |
end | 96336995 |
strand | + |
ver | v1.2 |
region | chr8:96261902-96336995 |
region5000 | chr8:96256902-96341995 |
regionname0 | PTDSS1_chr8_96261902_96336995 |
regionname5000 | PTDSS1_chr8_96256902_96341995 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 473 | 254 | 83 | 56 | 72 | 12 | 29 | 58 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | MASCV others(468): Show |
chr8 | 96256902 | 96341995 |
a0002 | 0/0 | 473 | 7 | 7 | 0 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | MASCV others(468): Show |
chr8 | 96256902 | 96341995 |
a0003 | 0/0 | 473 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | MASCV others(468): Show |
chr8 | 96256902 | 96341995 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 1419 | 246 | 75 | 56 | 72 | 12 | 29 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 | ||
a0001c0003 | 0/0 | 1419 | 5 | 5 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 | ||
a0001c0004 | 0/0 | 1419 | 2 | 2 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 | ||
a0001c0005 | 0/0 | 1419 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 | ||
a0002c0002 | 0/0 | 1419 | 7 | 7 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 | ||
a0003c0006 | 0/0 | 1419 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | ATGGC others(1414): Show |
chr8 | 96256902 | 96341995 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 4990 | 75 | 41 | 18 | 5 | 2 | 8 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0002 | 0/0 | 4990 | 73 | 3 | 21 | 33 | 4 | 12 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0003 | 1/0 | 4990 | 35 | 1 | 3 | 24 | 2 | 4 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0004 | 0/0 | 4990 | 19 | 3 | 3 | 4 | 4 | 5 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0005 | 0/0 | 4990 | 2 | 2 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0006 | 0/0 | 4990 | 6 | 5 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0007 | 0/0 | 4990 | 5 | 4 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0008 | 0/0 | 4990 | 4 | 4 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0009 | 0/0 | 4013 | 4 | 3 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4008): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0010 | 0/0 | 4990 | 4 | 1 | 1 | 2 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0011 | 0/0 | 4990 | 2 | 0 | 2 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0012 | 0/0 | 4990 | 2 | 1 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0013 | 0/0 | 4990 | 2 | 0 | 0 | 2 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0014 | 0/0 | 4990 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0015 | 0/0 | 4990 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0017 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0018 | 0/0 | 4990 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0019 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0020 | 0/0 | 4990 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0021 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0022 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0023 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0024 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0025 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0026 | 0/0 | 4990 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0001t0028 | 0/0 | 4990 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0003t0001 | 0/0 | 4990 | 5 | 5 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0004t0001 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0004t0016 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0001c0005t0001 | 0/0 | 4990 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0002c0002t0005 | 0/0 | 4990 | 7 | 7 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
a0003c0006t0027 | 0/0 | 4990 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | CCCTC others(4985): Show |
chr8 | 96256902 | 96341995 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0212 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0004 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0186 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0187 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0002 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0178 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0003g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0004g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0005g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0005g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0006g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0007g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0007g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0007g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0007g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0007g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0008g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0008g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0008g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0008g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0009g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0009g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0009g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0009g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0010g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0010g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0010g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0010g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0011g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0011g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0012g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0012g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0013g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0013g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0014g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0015g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0017g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0018g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0019g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0020g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0021g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0022g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0023g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0024g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0025g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0026g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0001t0028g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0003t0001g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0003t0001g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0004t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0004t0016g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0001c0005t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0002c0002t0005g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
a0003c0006t0027g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0002 | g0072 | EUR | GBR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00140 | hp2 | a0001 | c0001 | t0003 | g0247 | EUR | GBR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00280 | hp1 | a0001 | c0001 | t0004 | g0087 | EUR | FIN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0195 | EUR | FIN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00438 | hp1 | a0001 | c0001 | t0002 | g0215 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00438 | hp2 | a0001 | c0001 | t0003 | g0080 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00609 | hp1 | a0001 | c0001 | t0003 | g0192 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00621 | hp1 | a0001 | c0001 | t0002 | g0216 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00621 | hp2 | a0001 | c0001 | t0003 | g0081 | EAS | CHS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00642 | hp2 | a0001 | c0001 | t0002 | g0085 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00733 | hp1 | a0001 | c0001 | t0004 | g0106 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00733 | hp2 | a0001 | c0001 | t0002 | g0206 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00741 | hp1 | a0001 | c0001 | t0002 | g0109 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG00741 | hp2 | a0001 | c0001 | t0004 | g0250 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01069 | hp2 | a0001 | c0001 | t0002 | g0063 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01070 | hp1 | a0001 | c0001 | t0009 | g0062 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0245 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01071 | hp1 | a0001 | c0001 | t0002 | g0064 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0249 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0248 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01074 | hp2 | a0001 | c0001 | t0003 | g0237 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01081 | hp1 | a0001 | c0001 | t0006 | g0127 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0211 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01109 | hp2 | a0001 | c0001 | t0002 | g0173 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01167 | hp1 | a0001 | c0001 | t0018 | g0155 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01167 | hp2 | a0001 | c0001 | t0003 | g0002 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01168 | hp1 | a0001 | c0001 | t0014 | g0201 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01168 | hp2 | a0001 | c0001 | t0011 | g0099 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01169 | hp1 | a0001 | c0001 | t0003 | g0049 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01169 | hp2 | a0001 | c0001 | t0011 | g0069 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01175 | hp1 | a0001 | c0001 | t0002 | g0125 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01175 | hp2 | a0001 | c0001 | t0002 | g0052 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01243 | hp1 | a0001 | c0001 | t0012 | g0110 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01243 | hp2 | a0001 | c0001 | t0002 | g0220 | AMR | PUR | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01255 | hp1 | a0001 | c0001 | t0002 | g0124 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01255 | hp2 | a0001 | c0001 | t0004 | g0221 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01257 | hp1 | a0001 | c0001 | t0002 | g0004 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01257 | hp2 | a0001 | c0001 | t0007 | g0090 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0101 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01258 | hp2 | a0001 | c0001 | t0002 | g0197 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0219 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01358 | hp1 | a0001 | c0001 | t0001 | g0256 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01358 | hp2 | a0001 | c0001 | t0002 | g0184 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0148 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01433 | hp2 | a0001 | c0001 | t0002 | g0189 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0225 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01496 | hp2 | a0001 | c0001 | t0002 | g0161 | AMR | CLM | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01516 | hp1 | a0001 | c0001 | t0004 | g0246 | EUR | IBS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01516 | hp2 | a0001 | c0001 | t0002 | g0187 | EUR | IBS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01517 | hp1 | a0001 | c0001 | t0003 | g0002 | EUR | IBS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01517 | hp2 | a0001 | c0001 | t0002 | g0186 | EUR | IBS | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01884 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01891 | hp1 | a0001 | c0001 | t0007 | g0120 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01928 | hp1 | a0001 | c0001 | t0020 | g0227 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01934 | hp2 | a0001 | c0001 | t0028 | g0164 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01975 | hp1 | a0001 | c0001 | t0010 | g0208 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01975 | hp2 | a0001 | c0001 | t0002 | g0163 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01993 | hp1 | a0001 | c0001 | t0002 | g0194 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0226 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0054 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02004 | hp2 | a0001 | c0001 | t0002 | g0204 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02015 | hp1 | a0001 | c0001 | t0002 | g0176 | EAS | KHV | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02015 | hp2 | a0001 | c0001 | t0003 | g0082 | EAS | KHV | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02055 | hp1 | a0001 | c0001 | t0022 | g0232 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02056 | hp1 | a0001 | c0001 | t0003 | g0117 | EAS | KHV | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02056 | hp2 | a0001 | c0001 | t0002 | g0074 | EAS | KHV | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02145 | hp1 | a0001 | c0001 | t0002 | g0141 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02145 | hp2 | a0001 | c0001 | t0006 | g0037 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02148 | hp1 | a0001 | c0001 | t0002 | g0097 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02148 | hp2 | a0001 | c0001 | t0002 | g0230 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02155 | hp1 | a0001 | c0001 | t0003 | g0251 | EAS | CDX | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02155 | hp2 | a0001 | c0001 | t0010 | g0228 | EAS | CDX | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02257 | hp1 | a0001 | c0001 | t0002 | g0159 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02257 | hp2 | a0001 | c0001 | t0008 | g0210 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0137 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02258 | hp2 | a0001 | c0001 | t0006 | g0014 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02273 | hp1 | a0001 | c0001 | t0002 | g0096 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | PEL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02280 | hp2 | a0001 | c0001 | t0008 | g0207 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0169 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02451 | hp2 | a0001 | c0001 | t0006 | g0058 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02572 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02572 | hp2 | a0001 | c0004 | t0001 | g0147 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02615 | hp1 | a0001 | c0001 | t0007 | g0121 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02630 | hp1 | a0001 | c0001 | t0004 | g0100 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0060 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02683 | hp2 | a0001 | c0001 | t0002 | g0196 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02698 | hp1 | a0001 | c0001 | t0002 | g0202 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0114 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02717 | hp1 | a0002 | c0002 | t0005 | g0051 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02717 | hp2 | a0001 | c0001 | t0008 | g0036 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0132 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0123 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0053 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02738 | hp2 | a0001 | c0001 | t0002 | g0180 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0139 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02809 | hp2 | a0001 | c0001 | t0021 | g0150 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02818 | hp1 | a0001 | c0001 | t0007 | g0119 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02818 | hp2 | a0002 | c0002 | t0005 | g0156 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02886 | hp1 | a0001 | c0001 | t0009 | g0145 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02886 | hp2 | a0001 | c0001 | t0008 | g0027 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02895 | hp1 | a0001 | c0003 | t0001 | g0001 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02895 | hp2 | a0002 | c0002 | t0005 | g0135 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02896 | hp1 | a0001 | c0001 | t0006 | g0013 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02896 | hp2 | a0002 | c0002 | t0005 | g0136 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02897 | hp1 | a0001 | c0003 | t0001 | g0001 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02897 | hp2 | a0002 | c0002 | t0005 | g0130 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02922 | hp1 | a0001 | c0003 | t0001 | g0003 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0138 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02970 | hp1 | a0001 | c0004 | t0016 | g0153 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02976 | hp2 | a0001 | c0001 | t0019 | g0084 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0131 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03041 | hp2 | a0002 | c0002 | t0005 | g0158 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03130 | hp1 | a0001 | c0001 | t0003 | g0089 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03130 | hp2 | a0001 | c0001 | t0009 | g0061 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03139 | hp1 | a0001 | c0001 | t0009 | g0050 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03139 | hp2 | a0001 | c0003 | t0001 | g0003 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03195 | hp1 | a0001 | c0001 | t0024 | g0129 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03209 | hp1 | a0001 | c0001 | t0025 | g0146 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03209 | hp2 | a0001 | c0005 | t0001 | g0012 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0154 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03453 | hp1 | a0001 | c0001 | t0017 | g0149 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03453 | hp2 | a0001 | c0001 | t0006 | g0038 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03490 | hp1 | a0001 | c0001 | t0002 | g0107 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03490 | hp2 | a0001 | c0001 | t0003 | g0071 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03491 | hp1 | a0001 | c0001 | t0002 | g0067 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03491 | hp2 | a0001 | c0001 | t0004 | g0040 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03540 | hp1 | a0001 | c0001 | t0005 | g0128 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03540 | hp2 | a0001 | c0001 | t0012 | g0144 | AFR | GWD | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03579 | hp1 | a0001 | c0001 | t0007 | g0122 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03669 | hp1 | a0001 | c0001 | t0002 | g0235 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03669 | hp2 | a0001 | c0001 | t0003 | g0046 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03688 | hp1 | a0001 | c0001 | t0004 | g0091 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0020 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03710 | hp1 | a0001 | c0001 | t0002 | g0209 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03710 | hp2 | a0001 | c0001 | t0004 | g0105 | SAS | PJL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03831 | hp1 | a0003 | c0006 | t0027 | g0045 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03831 | hp2 | a0001 | c0001 | t0002 | g0231 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0059 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03834 | hp2 | a0001 | c0001 | t0003 | g0170 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03927 | hp1 | a0001 | c0001 | t0004 | g0108 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0181 | SAS | BEB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04115 | hp1 | a0001 | c0001 | t0002 | g0222 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04115 | hp2 | a0001 | c0001 | t0004 | g0041 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04199 | hp1 | a0001 | c0001 | t0002 | g0102 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04199 | hp2 | a0001 | c0001 | t0003 | g0229 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04228 | hp1 | a0001 | c0001 | t0002 | g0236 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG04228 | hp2 | a0001 | c0001 | t0002 | g0048 | SAS | STU | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18522 | hp1 | a0001 | c0001 | t0004 | g0142 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18522 | hp2 | a0001 | c0003 | t0001 | g0001 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18747 | hp1 | a0001 | c0001 | t0003 | g0076 | EAS | CHB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18747 | hp2 | a0001 | c0001 | t0002 | g0255 | EAS | CHB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18906 | hp2 | a0001 | c0001 | t0023 | g0126 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18940 | hp1 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18940 | hp2 | a0001 | c0001 | t0003 | g0078 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18943 | hp2 | a0001 | c0001 | t0002 | g0217 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18948 | hp1 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18948 | hp2 | a0001 | c0001 | t0002 | g0241 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18949 | hp1 | a0001 | c0001 | t0013 | g0252 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18949 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18951 | hp1 | a0001 | c0001 | t0002 | g0239 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18951 | hp2 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18952 | hp1 | a0001 | c0001 | t0002 | g0047 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18952 | hp2 | a0001 | c0001 | t0015 | g0200 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18954 | hp1 | a0001 | c0001 | t0002 | g0068 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18954 | hp2 | a0001 | c0001 | t0002 | g0253 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18960 | hp1 | a0001 | c0001 | t0004 | g0070 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18960 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18962 | hp1 | a0001 | c0001 | t0003 | g0095 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18962 | hp2 | a0001 | c0001 | t0002 | g0188 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18964 | hp2 | a0001 | c0001 | t0002 | g0223 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18965 | hp1 | a0001 | c0001 | t0003 | g0088 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18965 | hp2 | a0001 | c0001 | t0002 | g0213 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18966 | hp1 | a0001 | c0001 | t0004 | g0112 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18966 | hp2 | a0001 | c0001 | t0002 | g0238 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18969 | hp2 | a0001 | c0001 | t0003 | g0079 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18971 | hp1 | a0001 | c0001 | t0003 | g0199 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18971 | hp2 | a0001 | c0001 | t0013 | g0254 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18979 | hp1 | a0001 | c0001 | t0004 | g0043 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18979 | hp2 | a0001 | c0001 | t0003 | g0172 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18991 | hp1 | a0001 | c0001 | t0003 | g0098 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18991 | hp2 | a0001 | c0001 | t0002 | g0174 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19002 | hp1 | a0001 | c0001 | t0003 | g0103 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19002 | hp2 | a0001 | c0001 | t0002 | g0179 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19004 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19004 | hp2 | a0001 | c0001 | t0002 | g0191 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19005 | hp1 | a0001 | c0001 | t0026 | g0029 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19005 | hp2 | a0001 | c0001 | t0002 | g0193 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19007 | hp1 | a0001 | c0001 | t0002 | g0167 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19007 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19030 | hp2 | a0002 | c0002 | t0005 | g0240 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19043 | hp2 | a0001 | c0001 | t0005 | g0042 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19056 | hp2 | a0001 | c0001 | t0010 | g0168 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19060 | hp1 | a0001 | c0001 | t0003 | g0032 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19060 | hp2 | a0001 | c0001 | t0002 | g0218 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19065 | hp1 | a0001 | c0001 | t0003 | g0177 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19065 | hp2 | a0001 | c0001 | t0002 | g0113 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19066 | hp1 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19066 | hp2 | a0001 | c0001 | t0002 | g0182 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19068 | hp1 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19068 | hp2 | a0001 | c0001 | t0003 | g0198 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19088 | hp1 | a0001 | c0001 | t0002 | g0044 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19088 | hp2 | a0001 | c0001 | t0003 | g0030 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19090 | hp1 | a0001 | c0001 | t0003 | g0244 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19090 | hp2 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19091 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19091 | hp2 | a0001 | c0001 | t0003 | g0075 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA19240 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | YRI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0203 | EUR | TSI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20752 | hp2 | a0001 | c0001 | t0004 | g0162 | EUR | TSI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20805 | hp1 | a0001 | c0001 | t0002 | g0185 | EUR | TSI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20805 | hp2 | a0001 | c0001 | t0004 | g0115 | EUR | TSI | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0257 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0140 | AFR | ACB | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG03471 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | MSL | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG06807 | hp1 | a0001 | c0001 | t0004 | g0243 | AFR | USA | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
HG06807 | hp2 | a0001 | c0001 | t0002 | g0214 | AFR | USA | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18955 | hp1 | a0001 | c0001 | t0004 | g0104 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA18955 | hp2 | a0001 | c0001 | t0003 | g0171 | EAS | JPT | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | USA | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA20300 | hp2 | a0001 | c0001 | t0010 | g0165 | AFR | USA | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
NA21309 | hp2 | a0001 | c0001 | t0001 | g0233 | AFR | LWK | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0212 | REF | REF | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
homoSapiens | grch38p0 | a0001 | c0001 | t0003 | g0178 | REF | REF | PTDSS1_chr8_96256902_96341995 | PTDSS1 | chr8 | 96256902 | 96341995 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:96331051 | C | A | 1 | a0002 | 7 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(4): Show |
missense_variant | MODERATE | c.1268C>A | p.Thr423Asn | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/13 | 1407/4990 | 1268/1422 | 423/473 | chr8 | 96331051 | |||
chr8:96333492 | A | C | 1 | a0003 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.1348A>C | p.Asn450His | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1487/4990 | 1348/1422 | 450/473 | chr8 | 96333492 | |||
chr8:96336018 | TTTTCCCT others(3536): Show |
T | 1 | a0001 | 4 | HG01070.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
splice_region_variant | LOW | c.*2453_*5995del | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | chr8 | 96336018 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:96273389 | T | C | 1 | a0001c0004 | 2 | HG02572.hp2 HG02970.hp1 |
splice_region_variant&synonymous_variant | LOW | c.270T>C | p.Asn90Asn | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/13 | 409/4990 | 270/1422 | 90/473 | chr8 | 96273389 | |||
chr8:96304113 | C | A | 1 | a0001c0005 | 1 | HG03209.hp2 | synonymous_variant | LOW | c.826C>A | p.Arg276Arg | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/13 | 965/4990 | 826/1422 | 276/473 | chr8 | 96304113 | |||
chr8:96320309 | C | G | 1 | a0001c0003 | 5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.1137C>G | p.Thr379Thr | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/13 | 1276/4990 | 1137/1422 | 379/473 | chr8 | 96320309 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:96333651 | C | T | 2 | a0001c0001t0010 a0001c0001t0028 |
5 | HG01934.hp2 HG01975.hp1 HG02155.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*85C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 85 | chr8 | 96333651 | ||||||
chr8:96333691 | G | A | 1 | a0001c0001t0014 | 1 | HG01168.hp1 | 3_prime_UTR_variant | MODIFIER | c.*125G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 125 | chr8 | 96333691 | ||||||
chr8:96333733 | T | C | 1 | a0001c0001t0011 | 2 | HG01168.hp2 HG01169.hp2 |
3_prime_UTR_variant | MODIFIER | c.*167T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 167 | chr8 | 96333733 | ||||||
chr8:96333770 | G | C | 1 | a0001c0001t0015 | 1 | NA18952.hp2 | 3_prime_UTR_variant | MODIFIER | c.*204G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 204 | chr8 | 96333770 | ||||||
chr8:96333863 | A | G | 1 | a0003c0006t0027 | 1 | HG03831.hp1 | 3_prime_UTR_variant | MODIFIER | c.*297A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 297 | chr8 | 96333863 | ||||||
chr8:96333869 | C | G | 1 | a0001c0001t0026 | 1 | NA19005.hp1 | 3_prime_UTR_variant | MODIFIER | c.*303C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 303 | chr8 | 96333869 | ||||||
chr8:96333915 | C | T | 2 | a0001c0001t0005 a0002c0002t0005 |
9 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*349C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 349 | chr8 | 96333915 | ||||||
chr8:96334117 | G | T | 1 | a0001c0001t0025 | 1 | HG03209.hp1 | 3_prime_UTR_variant | MODIFIER | c.*551G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 551 | chr8 | 96334117 | ||||||
chr8:96334156 | G | A | 2 | a0001c0001t0006 a0001c0004t0016 |
7 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*590G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 590 | chr8 | 96334156 | ||||||
chr8:96334212 | C | T | 1 | a0001c0001t0024 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*646C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 646 | chr8 | 96334212 | ||||||
chr8:96334363 | A | T | 2 | a0001c0001t0006 a0001c0004t0016 |
7 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*797A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 797 | chr8 | 96334363 | ||||||
chr8:96334413 | T | C | 1 | a0001c0001t0017 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*847T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 847 | chr8 | 96334413 | ||||||
chr8:96334500 | C | G | 1 | a0001c0001t0006 | 6 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*934C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 934 | chr8 | 96334500 | ||||||
chr8:96334762 | T | A | 5 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(2): Show |
81 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(78): Show |
3_prime_UTR_variant | MODIFIER | c.*1196T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1196 | chr8 | 96334762 | ||||||
chr8:96334909 | G | A | 1 | a0001c0001t0018 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1343G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1343 | chr8 | 96334909 | ||||||
chr8:96334913 | T | C | 24 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show |
215 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(212): Show |
3_prime_UTR_variant | MODIFIER | c.*1347T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1347 | chr8 | 96334913 | ||||||
chr8:96335090 | C | T | 1 | a0001c0001t0004 | 19 | HG00280.hp1 HG00733.hp1 HG00741.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*1524C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1524 | chr8 | 96335090 | ||||||
chr8:96335288 | G | T | 1 | a0001c0001t0023 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1722G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1722 | chr8 | 96335288 | ||||||
chr8:96335397 | G | A | 7 | a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(4): Show |
80 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(77): Show |
3_prime_UTR_variant | MODIFIER | c.*1831G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1831 | chr8 | 96335397 | ||||||
chr8:96335409 | C | T | 7 | a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(4): Show |
84 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(81): Show |
3_prime_UTR_variant | MODIFIER | c.*1843C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1843 | chr8 | 96335409 | ||||||
chr8:96335462 | T | C | 1 | a0001c0001t0021 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1896T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1896 | chr8 | 96335462 | ||||||
chr8:96335490 | A | T | 1 | a0001c0004t0016 | 1 | HG02970.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1924A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1924 | chr8 | 96335490 | ||||||
chr8:96335540 | C | T | 1 | a0001c0001t0022 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1974C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 1974 | chr8 | 96335540 | ||||||
chr8:96336330 | G | A | 1 | a0001c0001t0021 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2764G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 2764 | chr8 | 96336330 | ||||||
chr8:96336361 | T | C | 8 | a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show |
21 | HG01109.hp1 HG01167.hp1 HG02258.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*2795T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 2795 | chr8 | 96336361 | ||||||
chr8:96336410 | A | G | 1 | a0001c0001t0001 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2844A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 2844 | chr8 | 96336410 | ||||||
chr8:96336683 | T | C | 2 | a0001c0001t0001 a0002c0002t0005 |
8 | HG01069.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*3117T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3117 | chr8 | 96336683 | ||||||
chr8:96336723 | G | A | 3 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 |
25 | HG00609.hp2 HG00733.hp1 HG01255.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*3157G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3157 | chr8 | 96336723 | ||||||
chr8:96336734 | G | A | 3 | a0001c0001t0001 a0001c0001t0021 a0002c0002t0005 |
9 | HG01069.hp1 HG02717.hp1 HG02809.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*3168G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3168 | chr8 | 96336734 | ||||||
chr8:96336831 | G | A | 2 | a0001c0001t0001 a0002c0002t0005 |
8 | HG01069.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*3265G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3265 | chr8 | 96336831 | ||||||
chr8:96336953 | G | A | 1 | a0001c0001t0001 | 7 | HG01261.hp1 HG01891.hp2 HG02486.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3387G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3387 | chr8 | 96336953 | ||||||
chr8:96336967 | T | C | 3 | a0001c0001t0001 a0001c0004t0016 a0002c0002t0005 |
11 | HG01069.hp1 HG01884.hp1 HG02717.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*3401T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 13/13 | 3401 | chr8 | 96336967 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:96262400 | C | T | 1 | a0001c0001t0001g0257 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.179+181C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262400 | |||||||
chr8:96262428 | C | T | 1 | a0001c0001t0001g0256 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.179+209C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262428 | |||||||
chr8:96262459 | G | C | 1 | a0001c0001t0001g0005 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.179+240G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262459 | |||||||
chr8:96262502 | A | T | 1 | a0001c0001t0002g0255 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.179+283A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262502 | |||||||
chr8:96262716 | GGT | G | 6 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show |
6 | HG01261.hp1 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.179+498_179+499del others(2): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262716 | |||||||
chr8:96262762 | G | A | 163 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(160): Show |
167 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(164): Show |
intron_variant | MODIFIER | c.179+543G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96262762 | |||||||
chr8:96263295 | A | G | 1 | a0001c0001t0013g0254 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.179+1076A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96263295 | |||||||
chr8:96263403 | GC | G | 31 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(28): Show |
31 | HG01261.hp1 HG01884.hp2 HG01891.hp2 others(28): Show |
intron_variant | MODIFIER | c.179+1186delC | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96263403 | ||||||
chr8:96263759 | C | T | 1 | a0001c0001t0004g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.179+1540C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96263759 | |||||||
chr8:96264003 | C | G | 1 | a0001c0001t0002g0161 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.179+1784C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264003 | |||||||
chr8:96264197 | G | A | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0008g0036 |
3 | HG02145.hp2 HG02717.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.179+1978G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264197 | |||||||
chr8:96264528 | T | C | 1 | a0001c0001t0001g0039 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.179+2309T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264528 | |||||||
chr8:96264765 | AATTGCAG others(3): Show |
A | 1 | a0001c0001t0002g0160 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.179+2547_179+2556d others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264765 | |||||||
chr8:96264797 | C | T | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.179+2578C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264797 | |||||||
chr8:96264986 | C | T | 9 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 others(6): Show |
9 | HG01167.hp1 HG02630.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.179+2767C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96264986 | |||||||
chr8:96265004 | C | T | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.179+2785C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265004 | |||||||
chr8:96265485 | C | A | 2 | a0001c0001t0004g0040 a0001c0001t0004g0041 |
2 | HG03491.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.179+3266C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265485 | |||||||
chr8:96265573 | A | G | 1 | a0001c0001t0001g0148 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.179+3354A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265573 | |||||||
chr8:96265584 | C | CAAACAAA others(3): Show |
2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.179+3394_179+3403d others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96265584 | ||||||
chr8:96265584 | CAAACAAA others(3): Show |
C | 5 | a0001c0001t0002g0044 a0001c0001t0002g0163 a0001c0001t0004g0043 others(2): Show |
5 | HG01934.hp2 HG01975.hp2 NA18979.hp1 others(2): Show |
intron_variant | MODIFIER | c.179+3394_179+3403d others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96265584 | ||||||
chr8:96265584 | CAAACAAA others(8): Show |
C | 1 | a0001c0001t0005g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.179+3389_179+3403d others(17): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96265584 | ||||||
chr8:96265667 | G | A | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.179+3448G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265667 | |||||||
chr8:96265745 | G | C | 5 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(2): Show |
5 | HG03669.hp2 HG03831.hp1 HG04228.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+3526G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265745 | |||||||
chr8:96265746 | A | G | 2 | a0001c0001t0025g0146 a0001c0004t0001g0147 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.179+3527A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265746 | |||||||
chr8:96265830 | G | A | 1 | a0001c0001t0002g0163 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.179+3611G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265830 | |||||||
chr8:96265861 | G | A | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.179+3642G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96265861 | |||||||
chr8:96266051 | C | A | 1 | a0001c0001t0001g0166 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.179+3832C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266051 | |||||||
chr8:96266077 | G | GTTGGTAA others(11): Show |
1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.179+3862_179+3879d others(20): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96266077 | ||||||
chr8:96266148 | A | G | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+3929A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266148 | |||||||
chr8:96266182 | C | G | 1 | a0001c0001t0009g0145 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.179+3963C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266182 | |||||||
chr8:96266265 | G | A | 30 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(27): Show |
31 | HG00642.hp1 HG01070.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.179+4046G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266265 | |||||||
chr8:96266304 | A | G | 1 | a0001c0001t0013g0252 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.179+4085A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266304 | |||||||
chr8:96266450 | C | T | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.179+4231C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266450 | |||||||
chr8:96266492 | T | A | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.179+4273T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266492 | |||||||
chr8:96266505 | T | C | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.179+4286T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266505 | |||||||
chr8:96266513 | A | C | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(49): Show |
53 | HG00642.hp1 HG01070.hp1 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.179+4294A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266513 | |||||||
chr8:96266645 | G | A | 2 | a0001c0001t0002g0063 a0001c0001t0002g0064 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.179+4426G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266645 | |||||||
chr8:96266890 | G | A | 2 | a0001c0001t0002g0065 a0001c0001t0002g0167 |
2 | NA19007.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.179+4671G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266890 | |||||||
chr8:96266961 | T | C | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.179+4742T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96266961 | |||||||
chr8:96267062 | A | G | 32 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(29): Show |
32 | HG01081.hp1 HG01261.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.179+4843A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267062 | |||||||
chr8:96267124 | A | G | 1 | a0001c0001t0002g0035 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.179+4905A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267124 | |||||||
chr8:96267204 | C | T | 1 | a0001c0001t0002g0035 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.179+4985C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267204 | |||||||
chr8:96267216 | C | T | 16 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show |
16 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.179+4997C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267216 | |||||||
chr8:96267534 | C | T | 9 | a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 others(6): Show |
9 | HG00140.hp2 HG00741.hp2 HG01070.hp2 others(6): Show |
intron_variant | MODIFIER | c.179+5315C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267534 | |||||||
chr8:96267648 | T | C | 4 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0018g0155 others(1): Show |
4 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.179+5429T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267648 | |||||||
chr8:96267829 | G | A | 1 | a0001c0001t0002g0066 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.180-5470G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267829 | |||||||
chr8:96267840 | C | G | 1 | a0001c0001t0001g0123 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.180-5459C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96267840 | |||||||
chr8:96268019 | T | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.180-5280T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96268019 | |||||||
chr8:96268634 | C | CT | 11 | a0001c0001t0003g0244 a0001c0001t0005g0042 a0001c0001t0006g0037 others(8): Show |
11 | HG01070.hp1 HG02145.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.180-4646dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96268634 | ||||||
chr8:96268634 | CT | C | 13 | a0001c0001t0001g0017 a0001c0001t0001g0131 a0001c0001t0001g0169 others(10): Show |
14 | HG01070.hp2 HG01169.hp2 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.180-4646delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96268634 | ||||||
chr8:96268974 | G | T | 1 | a0001c0001t0001g0034 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.180-4325G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96268974 | |||||||
chr8:96269245 | G | T | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.180-4054G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269245 | |||||||
chr8:96269330 | A | G | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.180-3969A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269330 | |||||||
chr8:96269516 | A | T | 2 | a0001c0001t0002g0044 a0001c0001t0002g0160 |
2 | NA19088.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.180-3783A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269516 | |||||||
chr8:96269659 | C | A | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-3640C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269659 | |||||||
chr8:96269910 | G | A | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.180-3389G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269910 | |||||||
chr8:96269913 | C | T | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-3386C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269913 | |||||||
chr8:96269914 | T | C | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-3385T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96269914 | |||||||
chr8:96270171 | C | T | 5 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0013 others(2): Show |
5 | HG02258.hp2 HG02809.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-3128C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96270171 | |||||||
chr8:96270332 | A | G | 41 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
42 | HG00642.hp1 HG01070.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.180-2967A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96270332 | |||||||
chr8:96270386 | G | A | 1 | a0001c0001t0001g0017 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.180-2913G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96270386 | |||||||
chr8:96270409 | C | A | 5 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0013 others(2): Show |
5 | HG02258.hp2 HG02809.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.180-2890C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96270409 | |||||||
chr8:96270749 | CAAAT | C | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-2548_180-2545d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | 96270749 | ||||||
chr8:96271085 | G | A | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.180-2214G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96271085 | |||||||
chr8:96271479 | T | A | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-1820T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96271479 | |||||||
chr8:96271562 | C | A | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-1737C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96271562 | |||||||
chr8:96271644 | T | C | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-1655T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96271644 | |||||||
chr8:96272042 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.180-1257G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272042 | |||||||
chr8:96272261 | A | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.180-1038A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272261 | |||||||
chr8:96272274 | A | G | 1 | a0001c0001t0001g0123 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.180-1025A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272274 | |||||||
chr8:96272322 | T | A | 18 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(15): Show |
18 | HG01109.hp1 HG02145.hp1 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.180-977T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272322 | |||||||
chr8:96272394 | G | A | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.180-905G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272394 | |||||||
chr8:96272539 | C | T | 1 | a0001c0001t0001g0257 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.180-760C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272539 | |||||||
chr8:96272542 | G | C | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.180-757G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272542 | |||||||
chr8:96272646 | A | T | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-653A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272646 | |||||||
chr8:96272694 | C | T | 161 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show |
165 | HG00280.hp1 HG00438.hp2 HG00621.hp2 others(162): Show |
intron_variant | MODIFIER | c.180-605C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272694 | |||||||
chr8:96272765 | A | T | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-534A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272765 | |||||||
chr8:96272848 | A | C | 16 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show |
16 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.180-451A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96272848 | |||||||
chr8:96273061 | G | C | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.180-238G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96273061 | |||||||
chr8:96273201 | G | A | 35 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(32): Show |
36 | HG00642.hp1 HG01070.hp1 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.180-98G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96273201 | |||||||
chr8:96273225 | T | C | 2 | a0001c0001t0003g0002 a0001c0001t0003g0049 |
3 | HG01167.hp2 HG01169.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.180-74T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96273225 | |||||||
chr8:96273232 | C | T | 1 | a0001c0001t0013g0252 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.180-67C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96273232 | |||||||
chr8:96273277 | A | T | 1 | a0001c0001t0002g0253 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.180-22A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 1/12 | chr8 | 96273277 | |||||||
chr8:96273429 | G | C | 1 | a0001c0001t0004g0246 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.271+39G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96273429 | |||||||
chr8:96273588 | T | G | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+198T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96273588 | |||||||
chr8:96273614 | G | C | 52 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(49): Show |
53 | HG00642.hp1 HG01070.hp1 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.271+224G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96273614 | |||||||
chr8:96273929 | C | T | 4 | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(1): Show |
4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+539C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96273929 | |||||||
chr8:96274083 | A | G | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+693A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274083 | |||||||
chr8:96274209 | A | G | 1 | a0001c0001t0001g0143 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.271+819A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274209 | |||||||
chr8:96274290 | A | G | 3 | a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0013g0254 |
3 | NA18951.hp1 NA18966.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.271+900A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274290 | |||||||
chr8:96274456 | C | T | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.271+1066C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274456 | |||||||
chr8:96274468 | G | A | 3 | a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 |
3 | HG03834.hp2 NA18955.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.271+1078G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274468 | |||||||
chr8:96274588 | G | A | 1 | a0001c0001t0002g0074 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.271+1198G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274588 | |||||||
chr8:96274595 | C | T | 1 | a0001c0001t0004g0043 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.271+1205C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274595 | |||||||
chr8:96274620 | G | A | 1 | a0001c0001t0002g0173 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.271+1230G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274620 | |||||||
chr8:96274741 | T | C | 2 | a0001c0001t0002g0063 a0001c0001t0002g0064 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.271+1351T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274741 | |||||||
chr8:96274774 | G | A | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.271+1384G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274774 | |||||||
chr8:96274807 | C | T | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.271+1417C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274807 | |||||||
chr8:96274820 | G | C | 2 | a0001c0001t0007g0119 a0001c0001t0007g0120 |
2 | HG01891.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.271+1430G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274820 | |||||||
chr8:96274970 | G | T | 4 | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(1): Show |
4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+1580G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96274970 | |||||||
chr8:96275120 | G | A | 4 | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(1): Show |
4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+1730G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96275120 | |||||||
chr8:96275175 | T | G | 50 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(47): Show |
50 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(47): Show |
intron_variant | MODIFIER | c.271+1785T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96275175 | |||||||
chr8:96275624 | T | C | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.271+2234T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96275624 | |||||||
chr8:96275685 | C | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.271+2295C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96275685 | |||||||
chr8:96275826 | C | T | 1 | a0001c0001t0001g0132 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.271+2436C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96275826 | |||||||
chr8:96276391 | T | C | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.271+3001T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276391 | |||||||
chr8:96276539 | T | C | 1 | a0001c0001t0002g0174 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.271+3149T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276539 | |||||||
chr8:96276598 | C | G | 50 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(47): Show |
50 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(47): Show |
intron_variant | MODIFIER | c.271+3208C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276598 | |||||||
chr8:96276611 | C | T | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.271+3221C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276611 | |||||||
chr8:96276629 | C | T | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+3239C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276629 | |||||||
chr8:96276671 | G | A | 1 | a0003c0006t0027g0045 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.271+3281G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276671 | |||||||
chr8:96276718 | G | T | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.271+3328G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276718 | |||||||
chr8:96276863 | T | C | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.271+3473T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276863 | |||||||
chr8:96276884 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.271+3494T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276884 | |||||||
chr8:96276961 | T | TAC | 6 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0257 others(3): Show |
6 | HG02486.hp2 HG02622.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.271+3574_271+3575d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276961 | ||||||
chr8:96276965 | C | T | 1 | a0001c0001t0002g0173 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.271+3575C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276965 | |||||||
chr8:96276966 | G | A | 43 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(40): Show |
43 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.271+3576G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276966 | |||||||
chr8:96276968 | G | A | 1 | a0001c0001t0001g0006 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.271+3578G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276968 | |||||||
chr8:96276968 | GCGCA | G | 7 | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0002g0035 others(4): Show |
7 | HG01884.hp2 HG02155.hp1 NA18949.hp2 others(4): Show |
intron_variant | MODIFIER | c.271+3582_271+3585d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276968 | ||||||
chr8:96276970 | G | A | 2 | a0001c0001t0001g0033 a0001c0001t0004g0142 |
2 | NA18522.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.271+3580G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276970 | |||||||
chr8:96276970 | G | GCACA | 13 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(10): Show |
13 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.271+3583_271+3584i others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276970 | ||||||
chr8:96276970 | G | GCGCACAC others(5): Show |
1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.271+3581_271+3582i others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276970 | ||||||
chr8:96276970 | GCA | G | 3 | a0001c0001t0001g0010 a0001c0001t0006g0037 a0001c0001t0006g0038 |
3 | HG02145.hp2 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.271+3582_271+3583d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276970 | ||||||
chr8:96276972 | A | G | 17 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(14): Show |
17 | HG01261.hp1 HG01891.hp2 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.271+3582A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276972 | |||||||
chr8:96276972 | ACG | A | 4 | a0001c0001t0003g0117 a0001c0001t0004g0243 a0001c0001t0005g0128 others(1): Show |
4 | HG02056.hp1 HG03195.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+3590_271+3591d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276972 | ||||||
chr8:96276974 | G | A | 40 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(37): Show |
40 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(37): Show |
intron_variant | MODIFIER | c.271+3584G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276974 | |||||||
chr8:96276976 | G | A | 43 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(40): Show |
43 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.271+3586G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276976 | |||||||
chr8:96276976 | G | GCACACAC others(7): Show |
2 | a0001c0004t0001g0147 a0001c0004t0016g0153 |
2 | HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.271+3587_271+3588i others(16): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276976 | ||||||
chr8:96276978 | G | A | 60 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(57): Show |
60 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(57): Show |
intron_variant | MODIFIER | c.271+3588G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276978 | |||||||
chr8:96276978 | G | GCA | 19 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0083 others(16): Show |
20 | HG00280.hp1 HG00642.hp2 HG01167.hp1 others(17): Show |
intron_variant | MODIFIER | c.271+3589_271+3590i others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276978 | ||||||
chr8:96276978 | G | GCACA | 16 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(13): Show |
17 | HG00438.hp2 HG00621.hp2 HG00642.hp1 others(14): Show |
intron_variant | MODIFIER | c.271+3589_271+3590i others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276978 | ||||||
chr8:96276978 | G | GCACACAC others(1): Show |
4 | a0001c0001t0001g0039 a0001c0001t0009g0050 a0001c0001t0009g0062 others(1): Show |
4 | HG01070.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+3589_271+3590i others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276978 | ||||||
chr8:96276980 | G | A | 149 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(146): Show |
153 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(150): Show |
intron_variant | MODIFIER | c.271+3590G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96276980 | |||||||
chr8:96276980 | GCA | G | 74 | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0169 others(71): Show |
75 | HG00280.hp2 HG00438.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.271+3622_271+3623d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276980 | ||||||
chr8:96276980 | GCACA | G | 4 | a0001c0001t0001g0233 a0001c0001t0002g0234 a0001c0001t0003g0172 others(1): Show |
4 | NA18940.hp1 NA18979.hp2 NA19090.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+3620_271+3623d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276980 | ||||||
chr8:96276980 | GCACACA | G | 4 | a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0003g0237 others(1): Show |
4 | HG01074.hp2 HG01516.hp1 HG03669.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+3618_271+3623d others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96276980 | ||||||
chr8:96277113 | G | A | 1 | a0001c0001t0002g0174 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.271+3723G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277113 | |||||||
chr8:96277119 | G | A | 2 | a0001c0001t0004g0040 a0001c0001t0004g0041 |
2 | HG03491.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.271+3729G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277119 | |||||||
chr8:96277426 | C | T | 1 | a0001c0001t0009g0050 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.271+4036C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277426 | |||||||
chr8:96277626 | C | T | 49 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(46): Show |
49 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(46): Show |
intron_variant | MODIFIER | c.271+4236C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277626 | |||||||
chr8:96277845 | G | T | 1 | a0001c0001t0022g0232 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.271+4455G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277845 | |||||||
chr8:96277872 | A | G | 83 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show |
84 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(81): Show |
intron_variant | MODIFIER | c.271+4482A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277872 | |||||||
chr8:96277926 | T | C | 1 | a0001c0001t0007g0090 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.271+4536T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277926 | |||||||
chr8:96277937 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.271+4547C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277937 | |||||||
chr8:96277986 | C | T | 1 | a0001c0001t0001g0152 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.271+4596C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96277986 | |||||||
chr8:96278111 | G | A | 4 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0018g0155 others(1): Show |
4 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.271+4721G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278111 | |||||||
chr8:96278121 | T | C | 5 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0013 others(2): Show |
5 | HG02258.hp2 HG02809.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.271+4731T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278121 | |||||||
chr8:96278390 | T | G | 2 | a0001c0004t0001g0147 a0001c0004t0016g0153 |
2 | HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.271+5000T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278390 | |||||||
chr8:96278400 | A | G | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.271+5010A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278400 | |||||||
chr8:96278482 | G | A | 1 | a0001c0001t0002g0182 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.271+5092G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278482 | |||||||
chr8:96278691 | A | G | 2 | a0001c0001t0004g0040 a0001c0001t0004g0041 |
2 | HG03491.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.271+5301A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278691 | |||||||
chr8:96278726 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.271+5336C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278726 | |||||||
chr8:96278727 | G | A | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.271+5337G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278727 | |||||||
chr8:96278728 | G | A | 4 | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(1): Show |
4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.271+5338G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278728 | |||||||
chr8:96278810 | A | C | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.272-5299A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278810 | |||||||
chr8:96278851 | AT | A | 50 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(47): Show |
50 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(47): Show |
intron_variant | MODIFIER | c.272-5256delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96278851 | ||||||
chr8:96278899 | T | C | 1 | a0001c0001t0001g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.272-5210T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278899 | |||||||
chr8:96278966 | G | GCC | 16 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show |
16 | HG01109.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.272-5138_272-5137d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96278966 | ||||||
chr8:96278972 | C | CCCT | 23 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(20): Show |
23 | HG01081.hp1 HG01261.hp1 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.272-5137_272-5136i others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278972 | |||||||
chr8:96278972 | C | CT | 77 | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0073 others(74): Show |
77 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.272-5118dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96278972 | ||||||
chr8:96278972 | C | CTT | 7 | a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0002g0160 others(4): Show |
7 | HG00621.hp2 HG03453.hp1 HG03927.hp2 others(4): Show |
intron_variant | MODIFIER | c.272-5119_272-5118d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96278972 | ||||||
chr8:96278972 | C | T | 1 | a0001c0001t0001g0025 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.272-5137C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278972 | |||||||
chr8:96278973 | T | C | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01069.hp1 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.272-5136T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278973 | |||||||
chr8:96278994 | G | A | 14 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(11): Show |
14 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.272-5115G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96278994 | |||||||
chr8:96279112 | A | G | 4 | a0001c0001t0009g0050 a0001c0001t0009g0061 a0001c0001t0009g0062 others(1): Show |
4 | HG01070.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.272-4997A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279112 | |||||||
chr8:96279137 | A | AT | 7 | a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0002g0180 others(4): Show |
7 | HG01934.hp1 HG02615.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.272-4957dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279137 | ||||||
chr8:96279220 | A | G | 1 | a0001c0001t0003g0089 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.272-4889A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279220 | |||||||
chr8:96279299 | C | T | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.272-4810C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279299 | |||||||
chr8:96279456 | T | A | 1 | a0001c0001t0002g0184 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.272-4653T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279456 | |||||||
chr8:96279556 | C | T | 1 | a0001c0001t0022g0232 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.272-4553C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279556 | |||||||
chr8:96279589 | T | C | 154 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(151): Show |
158 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(155): Show |
intron_variant | MODIFIER | c.272-4520T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279589 | |||||||
chr8:96279693 | C | T | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.272-4416C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279693 | |||||||
chr8:96279743 | C | T | 2 | a0001c0001t0001g0114 a0001c0001t0002g0048 |
2 | HG02698.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.272-4366C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279743 | |||||||
chr8:96279818 | C | CAAATAAA others(1): Show |
28 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(25): Show |
28 | HG01081.hp1 HG01884.hp2 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.272-4262_272-4255d others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279818 | ||||||
chr8:96279818 | C | CAAATAAA others(5): Show |
11 | a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 others(8): Show |
11 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.272-4266_272-4255d others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279818 | ||||||
chr8:96279818 | C | CAAATAAA others(9): Show |
1 | a0001c0001t0001g0134 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.272-4270_272-4255d others(18): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279818 | ||||||
chr8:96279818 | CAAAT | C | 114 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(111): Show |
118 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(115): Show |
intron_variant | MODIFIER | c.272-4258_272-4255d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279818 | ||||||
chr8:96279818 | CAAATAAA others(5): Show |
C | 5 | a0001c0001t0001g0157 a0001c0001t0002g0159 a0001c0001t0018g0155 others(2): Show |
5 | HG01167.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.272-4266_272-4255d others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96279818 | ||||||
chr8:96279912 | T | A | 1 | a0001c0001t0003g0075 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.272-4197T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96279912 | |||||||
chr8:96280407 | A | C | 1 | a0001c0001t0003g0075 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.272-3702A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280407 | |||||||
chr8:96280408 | G | A | 1 | a0001c0001t0003g0075 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.272-3701G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280408 | |||||||
chr8:96280454 | A | AAAGCCTG others(16): Show |
1 | a0001c0001t0010g0228 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.272-3610_272-3588d others(25): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96280454 | ||||||
chr8:96280454 | AAAGCCTG others(16): Show |
A | 1 | a0001c0001t0002g0185 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.272-3610_272-3588d others(25): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96280454 | ||||||
chr8:96280617 | G | A | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.272-3492G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280617 | |||||||
chr8:96280651 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.272-3458T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280651 | |||||||
chr8:96280675 | G | A | 8 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show |
8 | HG02258.hp2 HG02809.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.272-3434G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280675 | |||||||
chr8:96280973 | A | T | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.272-3136A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96280973 | |||||||
chr8:96281035 | C | A | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.272-3074C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281035 | |||||||
chr8:96281089 | G | A | 1 | a0001c0001t0004g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.272-3020G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281089 | |||||||
chr8:96281186 | T | A | 3 | a0001c0001t0008g0036 a0001c0003t0001g0001 a0001c0003t0001g0003 |
6 | HG02717.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.272-2923T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281186 | |||||||
chr8:96281561 | A | G | 165 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(162): Show |
169 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(166): Show |
intron_variant | MODIFIER | c.272-2548A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281561 | |||||||
chr8:96281593 | G | A | 9 | a0001c0001t0002g0044 a0001c0001t0002g0068 a0001c0001t0002g0092 others(6): Show |
9 | HG02148.hp1 HG02273.hp1 NA18948.hp1 others(6): Show |
intron_variant | MODIFIER | c.272-2516G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281593 | |||||||
chr8:96281677 | C | T | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.272-2432C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281677 | |||||||
chr8:96281680 | G | A | 2 | a0001c0001t0002g0186 a0001c0001t0002g0187 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.272-2429G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281680 | |||||||
chr8:96281725 | T | C | 63 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(60): Show |
64 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(61): Show |
intron_variant | MODIFIER | c.272-2384T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281725 | |||||||
chr8:96281836 | C | A | 2 | a0001c0001t0003g0075 a0001c0001t0003g0077 |
2 | NA19066.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.272-2273C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281836 | |||||||
chr8:96281922 | G | A | 2 | a0001c0001t0024g0129 a0001c0001t0025g0146 |
2 | HG03195.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.272-2187G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96281922 | |||||||
chr8:96282115 | G | A | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.272-1994G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282115 | |||||||
chr8:96282237 | A | G | 1 | a0001c0001t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.272-1872A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282237 | |||||||
chr8:96282341 | G | A | 1 | a0001c0001t0006g0058 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.272-1768G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282341 | |||||||
chr8:96282419 | C | T | 10 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(7): Show |
10 | HG01358.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.272-1690C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282419 | |||||||
chr8:96282604 | C | A | 83 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show |
84 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(81): Show |
intron_variant | MODIFIER | c.272-1505C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282604 | |||||||
chr8:96282648 | A | C | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.272-1461A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282648 | |||||||
chr8:96282903 | C | T | 16 | a0001c0001t0002g0067 a0001c0001t0002g0113 a0001c0001t0003g0075 others(13): Show |
16 | HG00280.hp1 HG00438.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.272-1206C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282903 | |||||||
chr8:96282985 | A | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.272-1124A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96282985 | |||||||
chr8:96283192 | A | G | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.272-917A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283192 | |||||||
chr8:96283435 | G | A | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.272-674G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283435 | |||||||
chr8:96283449 | T | G | 83 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show |
84 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(81): Show |
intron_variant | MODIFIER | c.272-660T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283449 | |||||||
chr8:96283503 | T | C | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.272-606T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283503 | |||||||
chr8:96283598 | GTC | G | 28 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(25): Show |
28 | HG01081.hp1 HG01261.hp1 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.272-494_272-493del others(2): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96283598 | ||||||
chr8:96283598 | GTCTC | G | 9 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(6): Show |
9 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.272-496_272-493del others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96283598 | ||||||
chr8:96283615 | T | A | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.272-494T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283615 | |||||||
chr8:96283615 | TCA | T | 54 | a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0001t0001g0114 others(51): Show |
54 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(51): Show |
intron_variant | MODIFIER | c.272-476_272-475del others(2): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96283615 | ||||||
chr8:96283617 | A | T | 4 | a0001c0001t0001g0033 a0001c0001t0003g0075 a0001c0001t0008g0027 others(1): Show |
4 | HG02886.hp2 HG03209.hp2 NA19091.hp2 others(1): Show |
intron_variant | MODIFIER | c.272-492A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283617 | |||||||
chr8:96283619 | A | T | 1 | a0001c0001t0001g0242 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.272-490A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283619 | |||||||
chr8:96283624 | C | A | 1 | a0001c0001t0002g0188 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.272-485C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283624 | |||||||
chr8:96283631 | A | C | 1 | a0001c0001t0001g0017 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.272-478A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283631 | |||||||
chr8:96283633 | A | C | 2 | a0001c0001t0001g0006 a0001c0003t0001g0003 |
3 | HG02622.hp1 HG02922.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.272-476A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283633 | |||||||
chr8:96283642 | T | C | 67 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(64): Show |
68 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(65): Show |
intron_variant | MODIFIER | c.272-467T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283642 | |||||||
chr8:96283758 | G | T | 19 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(16): Show |
19 | HG01261.hp1 HG01891.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.272-351G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283758 | |||||||
chr8:96283791 | C | T | 5 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(2): Show |
5 | HG03669.hp2 HG03831.hp1 HG04228.hp2 others(2): Show |
intron_variant | MODIFIER | c.272-318C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283791 | |||||||
chr8:96283817 | A | G | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.272-292A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283817 | |||||||
chr8:96283863 | A | C | 1 | a0001c0001t0001g0021 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.272-246A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283863 | |||||||
chr8:96283922 | G | T | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.272-187G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283922 | |||||||
chr8:96283930 | G | A | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.272-179G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283930 | |||||||
chr8:96283966 | G | T | 2 | a0001c0001t0006g0127 a0001c0001t0023g0126 |
2 | HG01081.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.272-143G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283966 | |||||||
chr8:96283977 | G | GA | 11 | a0001c0001t0001g0183 a0001c0001t0002g0044 a0001c0001t0002g0068 others(8): Show |
11 | HG01069.hp1 HG02148.hp1 HG02273.hp1 others(8): Show |
intron_variant | MODIFIER | c.272-118dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | 96283977 | ||||||
chr8:96283993 | T | C | 2 | a0001c0001t0002g0235 a0001c0001t0002g0236 |
2 | HG03669.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.272-116T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 2/12 | chr8 | 96283993 | |||||||
chr8:96284203 | T | C | 3 | a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 |
3 | HG01070.hp2 HG01071.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.316+50T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284203 | |||||||
chr8:96284337 | G | C | 1 | a0001c0001t0002g0067 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.316+184G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284337 | |||||||
chr8:96284339 | C | T | 44 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(41): Show |
44 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(41): Show |
intron_variant | MODIFIER | c.316+186C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284339 | |||||||
chr8:96284403 | T | C | 1 | a0001c0001t0024g0129 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.316+250T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284403 | |||||||
chr8:96284458 | T | C | 1 | a0001c0001t0002g0189 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.316+305T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284458 | |||||||
chr8:96284556 | A | G | 1 | a0001c0001t0003g0081 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.316+403A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284556 | |||||||
chr8:96284557 | G | T | 44 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(41): Show |
44 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(41): Show |
intron_variant | MODIFIER | c.316+404G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284557 | |||||||
chr8:96284790 | C | A | 1 | a0001c0001t0001g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.316+637C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284790 | |||||||
chr8:96284807 | A | G | 1 | a0001c0001t0008g0027 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.316+654A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284807 | |||||||
chr8:96284809 | G | A | 1 | a0001c0001t0001g0190 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.316+656G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284809 | |||||||
chr8:96284843 | C | T | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.316+690C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96284843 | |||||||
chr8:96285033 | C | T | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.316+880C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285033 | |||||||
chr8:96285034 | A | G | 79 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(76): Show |
80 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
intron_variant | MODIFIER | c.316+881A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285034 | |||||||
chr8:96285035 | A | G | 152 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(149): Show |
156 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(153): Show |
intron_variant | MODIFIER | c.316+882A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285035 | |||||||
chr8:96285057 | A | G | 1 | a0001c0001t0001g0190 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.316+904A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285057 | |||||||
chr8:96285086 | C | T | 1 | a0001c0001t0013g0252 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.316+933C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285086 | |||||||
chr8:96285265 | G | A | 1 | a0001c0001t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.316+1112G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285265 | |||||||
chr8:96285361 | G | T | 1 | a0001c0001t0003g0071 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.316+1208G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285361 | |||||||
chr8:96285422 | G | GA | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.316+1271dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | 96285422 | ||||||
chr8:96285666 | A | G | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.317-1356A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96285666 | |||||||
chr8:96286099 | C | T | 3 | a0001c0001t0002g0180 a0001c0001t0002g0222 a0001c0001t0004g0221 |
3 | HG01255.hp2 HG02738.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.317-923C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286099 | |||||||
chr8:96286263 | G | C | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.317-759G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286263 | |||||||
chr8:96286303 | G | A | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.317-719G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286303 | |||||||
chr8:96286664 | A | G | 43 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(40): Show |
43 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.317-358A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286664 | |||||||
chr8:96286728 | T | C | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.317-294T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286728 | |||||||
chr8:96286753 | G | A | 2 | a0001c0001t0002g0191 a0001c0001t0003g0192 |
2 | HG00609.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.317-269G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286753 | |||||||
chr8:96286840 | G | A | 45 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(42): Show |
45 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(42): Show |
intron_variant | MODIFIER | c.317-182G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286840 | |||||||
chr8:96286918 | A | G | 4 | a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0220 others(1): Show |
4 | HG01074.hp2 HG01243.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.317-104A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286918 | |||||||
chr8:96286991 | C | A | 1 | a0001c0001t0001g0059 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.317-31C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 3/12 | chr8 | 96286991 | |||||||
chr8:96287345 | C | T | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.441+199C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287345 | |||||||
chr8:96287369 | T | G | 13 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(10): Show |
13 | HG01167.hp1 HG02258.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.441+223T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287369 | |||||||
chr8:96287541 | C | T | 1 | a0001c0001t0024g0129 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.441+395C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287541 | |||||||
chr8:96287572 | AC | A | 37 | a0001c0001t0001g0005 a0001c0001t0001g0114 a0001c0001t0001g0116 others(34): Show |
37 | HG00609.hp2 HG00642.hp2 HG00733.hp1 others(34): Show |
intron_variant | MODIFIER | c.441+430delC | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96287572 | ||||||
chr8:96287706 | C | A | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.441+560C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287706 | |||||||
chr8:96287734 | A | G | 13 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(10): Show |
13 | HG01167.hp1 HG02258.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.441+588A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287734 | |||||||
chr8:96287748 | A | G | 2 | a0001c0001t0002g0186 a0001c0001t0002g0187 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.441+602A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287748 | |||||||
chr8:96287748 | A | T | 1 | a0001c0001t0001g0219 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.441+602A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287748 | |||||||
chr8:96287776 | A | G | 1 | a0001c0001t0004g0091 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.441+630A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287776 | |||||||
chr8:96287805 | G | A | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+659G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96287805 | |||||||
chr8:96288119 | C | T | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.441+973C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288119 | |||||||
chr8:96288281 | T | C | 5 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0013 others(2): Show |
5 | HG02258.hp2 HG02809.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+1135T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288281 | |||||||
chr8:96288319 | C | T | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.441+1173C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288319 | |||||||
chr8:96288320 | G | A | 1 | a0001c0001t0002g0193 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.441+1174G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288320 | |||||||
chr8:96288366 | C | T | 8 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show |
8 | HG02258.hp2 HG02809.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.441+1220C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288366 | |||||||
chr8:96288380 | A | C | 1 | a0001c0001t0003g0089 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.441+1234A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288380 | |||||||
chr8:96288402 | G | A | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.441+1256G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288402 | |||||||
chr8:96288414 | T | A | 4 | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(1): Show |
4 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+1268T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288414 | |||||||
chr8:96288514 | G | A | 19 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(16): Show |
19 | HG01261.hp1 HG01891.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.441+1368G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288514 | |||||||
chr8:96288544 | G | A | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.441+1398G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288544 | |||||||
chr8:96288575 | T | C | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.441+1429T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288575 | |||||||
chr8:96288625 | C | CT | 96 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(93): Show |
100 | HG00280.hp1 HG00438.hp1 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.441+1501dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96288625 | ||||||
chr8:96288625 | C | CTT | 34 | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0055 others(31): Show |
34 | HG00438.hp2 HG00621.hp2 HG00642.hp1 others(31): Show |
intron_variant | MODIFIER | c.441+1500_441+1501d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96288625 | ||||||
chr8:96288625 | C | CTTT | 17 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 others(14): Show |
17 | HG01081.hp1 HG02258.hp1 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.441+1499_441+1501d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96288625 | ||||||
chr8:96288625 | C | CTTTT | 16 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0018 others(13): Show |
16 | HG01109.hp1 HG02145.hp2 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.441+1498_441+1501d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96288625 | ||||||
chr8:96288625 | C | CTTTTT | 20 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(17): Show |
20 | HG01261.hp1 HG01884.hp2 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.441+1497_441+1501d others(7): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96288625 | ||||||
chr8:96288829 | G | C | 2 | a0001c0001t0003g0002 a0001c0001t0003g0049 |
3 | HG01167.hp2 HG01169.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.441+1683G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288829 | |||||||
chr8:96288969 | C | T | 6 | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0002g0035 others(3): Show |
6 | HG01884.hp2 NA18949.hp2 NA19005.hp1 others(3): Show |
intron_variant | MODIFIER | c.441+1823C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96288969 | |||||||
chr8:96289169 | A | G | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.441+2023A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96289169 | |||||||
chr8:96289863 | T | C | 67 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(64): Show |
68 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(65): Show |
intron_variant | MODIFIER | c.441+2717T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96289863 | |||||||
chr8:96289888 | T | G | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.441+2742T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96289888 | |||||||
chr8:96289914 | G | A | 1 | a0001c0001t0002g0184 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.441+2768G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96289914 | |||||||
chr8:96290087 | G | A | 6 | a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 others(3): Show |
6 | HG00140.hp2 HG00741.hp2 HG01070.hp2 others(3): Show |
intron_variant | MODIFIER | c.441+2941G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290087 | |||||||
chr8:96290256 | C | T | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.441+3110C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290256 | |||||||
chr8:96290343 | G | A | 1 | a0001c0001t0002g0141 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.441+3197G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290343 | |||||||
chr8:96290366 | C | T | 1 | a0001c0001t0005g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.441+3220C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290366 | |||||||
chr8:96290481 | TA | T | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.441+3336delA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290481 | |||||||
chr8:96290549 | C | T | 1 | a0001c0001t0002g0231 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.441+3403C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290549 | |||||||
chr8:96290558 | G | A | 2 | a0001c0001t0002g0241 a0001c0001t0003g0103 |
2 | NA18948.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.441+3412G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290558 | |||||||
chr8:96290861 | A | G | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.441+3715A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290861 | |||||||
chr8:96290867 | T | C | 13 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(10): Show |
13 | HG01167.hp1 HG02258.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.441+3721T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96290867 | |||||||
chr8:96291056 | T | C | 13 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(10): Show |
13 | HG01167.hp1 HG02258.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.441+3910T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291056 | |||||||
chr8:96291107 | C | T | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.441+3961C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291107 | |||||||
chr8:96291171 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.442-3927G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291171 | |||||||
chr8:96291235 | G | T | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.442-3863G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291235 | |||||||
chr8:96291271 | G | C | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-3827G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291271 | |||||||
chr8:96291452 | C | CT | 20 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(17): Show |
20 | HG01109.hp1 HG01175.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.442-3629dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96291452 | ||||||
chr8:96291508 | T | C | 6 | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0002g0141 others(3): Show |
6 | HG02145.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.442-3590T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291508 | |||||||
chr8:96291776 | C | G | 2 | a0001c0001t0002g0096 a0001c0001t0002g0097 |
2 | HG02148.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.442-3322C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291776 | |||||||
chr8:96291780 | G | A | 1 | a0001c0001t0002g0194 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.442-3318G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291780 | |||||||
chr8:96291853 | G | A | 1 | a0001c0001t0003g0082 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.442-3245G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291853 | |||||||
chr8:96291938 | G | A | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.442-3160G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291938 | |||||||
chr8:96291985 | A | G | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-3113A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96291985 | |||||||
chr8:96292289 | C | CA | 25 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(22): Show |
25 | HG01175.hp2 HG01358.hp1 HG01496.hp1 others(22): Show |
intron_variant | MODIFIER | c.442-2788dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96292289 | ||||||
chr8:96292289 | C | CAA | 73 | a0001c0001t0001g0005 a0001c0001t0001g0073 a0001c0001t0001g0083 others(70): Show |
76 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(73): Show |
intron_variant | MODIFIER | c.442-2789_442-2788d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96292289 | ||||||
chr8:96292289 | CA | C | 14 | a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(11): Show |
14 | HG01167.hp1 HG02258.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.442-2788delA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96292289 | ||||||
chr8:96292306 | A | AG | 18 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(15): Show |
18 | HG01261.hp1 HG01891.hp2 HG02486.hp1 others(15): Show |
intron_variant | MODIFIER | c.442-2792_442-2791i others(3): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292306 | |||||||
chr8:96292306 | A | G | 26 | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 others(23): Show |
26 | HG01081.hp1 HG01109.hp1 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.442-2792A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292306 | |||||||
chr8:96292398 | A | G | 63 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(60): Show |
64 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(61): Show |
intron_variant | MODIFIER | c.442-2700A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292398 | |||||||
chr8:96292520 | C | A | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-2578C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292520 | |||||||
chr8:96292524 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.442-2574C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292524 | |||||||
chr8:96292817 | A | G | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-2281A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96292817 | |||||||
chr8:96293059 | C | G | 1 | a0001c0001t0001g0101 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.442-2039C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293059 | |||||||
chr8:96293087 | C | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.442-2011C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293087 | |||||||
chr8:96293365 | C | T | 1 | a0001c0001t0001g0017 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.442-1733C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293365 | |||||||
chr8:96293397 | C | T | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.442-1701C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293397 | |||||||
chr8:96293675 | C | G | 1 | a0001c0001t0001g0101 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.442-1423C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293675 | |||||||
chr8:96293679 | T | C | 163 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(160): Show |
167 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(164): Show |
intron_variant | MODIFIER | c.442-1419T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293679 | |||||||
chr8:96293716 | A | G | 17 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
18 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1382A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293716 | |||||||
chr8:96293808 | T | C | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.442-1290T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96293808 | |||||||
chr8:96293903 | G | GC | 83 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show |
84 | HG00642.hp1 HG01070.hp1 HG01081.hp1 others(81): Show |
intron_variant | MODIFIER | c.442-1194dupC | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | 96293903 | ||||||
chr8:96294059 | A | G | 46 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(43): Show |
46 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(43): Show |
intron_variant | MODIFIER | c.442-1039A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96294059 | |||||||
chr8:96294829 | T | A | 1 | a0001c0001t0002g0052 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-269T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96294829 | |||||||
chr8:96294864 | T | G | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.442-234T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 4/12 | chr8 | 96294864 | |||||||
chr8:96295379 | T | C | 1 | a0001c0001t0006g0037 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.600+123T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96295379 | |||||||
chr8:96295949 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.600+693A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96295949 | |||||||
chr8:96296057 | C | T | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.600+801C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296057 | |||||||
chr8:96296068 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.600+812G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296068 | |||||||
chr8:96296100 | C | A | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.600+844C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296100 | |||||||
chr8:96296132 | C | CT | 44 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 others(41): Show |
44 | HG00609.hp1 HG00621.hp1 HG00741.hp2 others(41): Show |
intron_variant | MODIFIER | c.600+902dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | 96296132 | ||||||
chr8:96296132 | CT | C | 79 | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0039 others(76): Show |
83 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(80): Show |
intron_variant | MODIFIER | c.600+902delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | 96296132 | ||||||
chr8:96296161 | G | A | 44 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(41): Show |
44 | HG01081.hp1 HG01109.hp1 HG01261.hp1 others(41): Show |
intron_variant | MODIFIER | c.600+905G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296161 | |||||||
chr8:96296263 | C | T | 28 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(25): Show |
28 | HG01081.hp1 HG01261.hp1 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.600+1007C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296263 | |||||||
chr8:96296264 | G | A | 6 | a0001c0001t0002g0191 a0001c0001t0003g0192 a0001c0001t0007g0119 others(3): Show |
6 | HG00609.hp1 HG01891.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.600+1008G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296264 | |||||||
chr8:96296695 | C | T | 4 | a0001c0001t0024g0129 a0001c0001t0025g0146 a0001c0004t0001g0147 others(1): Show |
4 | HG02572.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.600+1439C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296695 | |||||||
chr8:96296751 | A | C | 1 | a0001c0001t0001g0123 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.600+1495A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96296751 | |||||||
chr8:96297176 | T | C | 1 | a0001c0001t0002g0048 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.600+1920T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96297176 | |||||||
chr8:96297448 | T | G | 166 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(163): Show |
170 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(167): Show |
intron_variant | MODIFIER | c.600+2192T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96297448 | |||||||
chr8:96297788 | G | A | 16 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | HG01891.hp2 HG02280.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.601-1906G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96297788 | |||||||
chr8:96297984 | C | T | 1 | a0001c0001t0001g0166 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.601-1710C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96297984 | |||||||
chr8:96298318 | T | C | 2 | a0001c0001t0003g0086 a0001c0001t0003g0088 |
2 | NA18951.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.601-1376T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298318 | |||||||
chr8:96298425 | T | C | 4 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0013 others(1): Show |
4 | HG02258.hp2 HG02896.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.601-1269T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298425 | |||||||
chr8:96298531 | C | T | 1 | a0001c0001t0002g0230 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.601-1163C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298531 | |||||||
chr8:96298563 | C | G | 1 | a0001c0001t0001g0039 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.601-1131C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298563 | |||||||
chr8:96298572 | C | T | 1 | a0001c0003t0001g0003 | 2 | HG02922.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.601-1122C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298572 | |||||||
chr8:96298844 | A | G | 7 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 others(4): Show |
7 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.601-850A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298844 | |||||||
chr8:96298894 | G | A | 1 | a0001c0001t0024g0129 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.601-800G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298894 | |||||||
chr8:96298965 | G | A | 3 | a0001c0001t0001g0157 a0001c0001t0018g0155 a0002c0002t0005g0156 |
3 | HG01167.hp1 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.601-729G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96298965 | |||||||
chr8:96299041 | G | GA | 11 | a0001c0001t0001g0033 a0001c0001t0001g0154 a0001c0001t0001g0157 others(8): Show |
11 | HG01167.hp1 HG02630.hp2 HG02809.hp2 others(8): Show |
intron_variant | MODIFIER | c.601-637dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr8 | 96299041 | ||||||
chr8:96299136 | T | G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.601-558T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96299136 | |||||||
chr8:96299294 | A | G | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.601-400A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96299294 | |||||||
chr8:96299597 | C | A | 2 | a0001c0001t0002g0173 a0001c0001t0002g0194 |
2 | HG01109.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.601-97C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96299597 | |||||||
chr8:96299602 | A | G | 41 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(38): Show |
41 | HG01069.hp1 HG01081.hp1 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.601-92A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 5/12 | chr8 | 96299602 | |||||||
chr8:96300126 | C | T | 1 | a0001c0001t0003g0078 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.752+281C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300126 | |||||||
chr8:96300214 | T | G | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.752+369T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300214 | |||||||
chr8:96300258 | G | C | 158 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show |
162 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(159): Show |
intron_variant | MODIFIER | c.752+413G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300258 | |||||||
chr8:96300369 | C | T | 5 | a0001c0001t0001g0134 a0001c0001t0002g0141 a0002c0002t0005g0130 others(2): Show |
5 | HG02145.hp1 HG02895.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.752+524C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300369 | |||||||
chr8:96300499 | A | G | 2 | a0001c0001t0003g0082 a0001c0001t0003g0117 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.752+654A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300499 | |||||||
chr8:96300585 | G | A | 16 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(13): Show |
16 | HG01109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.752+740G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96300585 | |||||||
chr8:96301077 | A | C | 1 | a0001c0001t0001g0175 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.752+1232A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301077 | |||||||
chr8:96301116 | T | C | 4 | a0001c0001t0001g0033 a0001c0001t0008g0027 a0001c0001t0021g0150 others(1): Show |
4 | HG02809.hp2 HG02886.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+1271T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301116 | |||||||
chr8:96301145 | A | G | 1 | a0001c0001t0003g0086 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.752+1300A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301145 | |||||||
chr8:96301375 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.752+1530G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301375 | |||||||
chr8:96301382 | A | G | 1 | a0001c0001t0007g0090 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.752+1537A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301382 | |||||||
chr8:96301414 | A | G | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.752+1569A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301414 | |||||||
chr8:96301565 | G | A | 5 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(2): Show |
5 | HG03669.hp2 HG03831.hp1 HG04228.hp2 others(2): Show |
intron_variant | MODIFIER | c.752+1720G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301565 | |||||||
chr8:96301576 | A | G | 4 | a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0220 others(1): Show |
4 | HG01074.hp2 HG01243.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.752+1731A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301576 | |||||||
chr8:96301578 | G | A | 10 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(7): Show |
10 | HG01358.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.752+1733G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301578 | |||||||
chr8:96301613 | A | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0060 |
2 | HG02683.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.752+1768A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301613 | |||||||
chr8:96301668 | G | A | 2 | a0001c0001t0006g0037 a0001c0001t0006g0038 |
2 | HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.752+1823G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301668 | |||||||
chr8:96301790 | A | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.752+1945A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96301790 | |||||||
chr8:96302003 | A | G | 2 | a0001c0004t0001g0147 a0001c0004t0016g0153 |
2 | HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.753-2037A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302003 | |||||||
chr8:96302161 | A | C | 1 | a0001c0001t0002g0113 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.753-1879A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302161 | |||||||
chr8:96302306 | A | G | 1 | a0001c0001t0001g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.753-1734A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302306 | |||||||
chr8:96302521 | G | A | 1 | a0001c0001t0002g0163 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.753-1519G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302521 | |||||||
chr8:96302576 | C | CTTG | 104 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0053 others(101): Show |
108 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(105): Show |
intron_variant | MODIFIER | c.753-1446_753-1444d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | 96302576 | ||||||
chr8:96302735 | C | T | 1 | a0001c0001t0008g0036 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.753-1305C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302735 | |||||||
chr8:96302754 | G | A | 2 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.753-1286G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96302754 | |||||||
chr8:96303037 | A | G | 1 | a0001c0001t0001g0026 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.753-1003A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303037 | |||||||
chr8:96303244 | C | T | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.753-796C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303244 | |||||||
chr8:96303330 | C | T | 4 | a0001c0001t0001g0033 a0001c0001t0008g0027 a0001c0001t0021g0150 others(1): Show |
4 | HG02809.hp2 HG02886.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.753-710C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303330 | |||||||
chr8:96303417 | A | C | 21 | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(18): Show |
22 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(19): Show |
intron_variant | MODIFIER | c.753-623A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303417 | |||||||
chr8:96303437 | T | C | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.753-603T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303437 | |||||||
chr8:96303628 | G | T | 1 | a0001c0001t0002g0113 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.753-412G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303628 | |||||||
chr8:96303785 | G | A | 254 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(251): Show |
259 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.753-255G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303785 | |||||||
chr8:96303849 | T | C | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.753-191T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303849 | |||||||
chr8:96303933 | C | T | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.753-107C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96303933 | |||||||
chr8:96304004 | C | A | 1 | a0001c0001t0005g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.753-36C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 6/12 | chr8 | 96304004 | |||||||
chr8:96304593 | T | G | 108 | a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0053 others(105): Show |
112 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(109): Show |
intron_variant | MODIFIER | c.894+412T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304593 | |||||||
chr8:96304598 | C | A | 1 | a0002c0002t0005g0156 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.894+417C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304598 | |||||||
chr8:96304666 | G | A | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.894+485G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304666 | |||||||
chr8:96304706 | G | A | 22 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(19): Show |
22 | HG01069.hp1 HG01261.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.894+525G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304706 | |||||||
chr8:96304775 | A | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.894+594A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304775 | |||||||
chr8:96304953 | T | C | 25 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(22): Show |
26 | HG00642.hp1 HG01070.hp1 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.894+772T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304953 | |||||||
chr8:96304978 | A | G | 2 | a0001c0001t0001g0111 a0001c0001t0012g0110 |
2 | HG01243.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.894+797A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96304978 | |||||||
chr8:96305022 | G | A | 2 | a0001c0001t0024g0129 a0001c0001t0025g0146 |
2 | HG03195.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.894+841G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305022 | |||||||
chr8:96305044 | A | T | 20 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(17): Show |
21 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.894+863A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305044 | |||||||
chr8:96305081 | A | G | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.894+900A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305081 | |||||||
chr8:96305181 | G | A | 82 | a0001c0001t0001g0005 a0001c0001t0001g0073 a0001c0001t0001g0083 others(79): Show |
85 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(82): Show |
intron_variant | MODIFIER | c.894+1000G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305181 | |||||||
chr8:96305214 | C | T | 2 | a0001c0001t0001g0039 a0001c0005t0001g0012 |
2 | HG02976.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.894+1033C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305214 | |||||||
chr8:96305487 | A | G | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.895-957A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305487 | |||||||
chr8:96305591 | T | C | 1 | a0001c0001t0002g0216 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.895-853T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305591 | |||||||
chr8:96305736 | A | T | 5 | a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0017g0149 others(2): Show |
5 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.895-708A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305736 | |||||||
chr8:96305749 | C | T | 2 | a0001c0001t0024g0129 a0001c0001t0025g0146 |
2 | HG03195.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.895-695C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305749 | |||||||
chr8:96305872 | G | C | 1 | a0001c0003t0001g0001 | 3 | HG02895.hp1 HG02897.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.895-572G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96305872 | |||||||
chr8:96306083 | G | A | 9 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(6): Show |
9 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.895-361G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96306083 | |||||||
chr8:96306275 | G | A | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.895-169G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96306275 | |||||||
chr8:96306304 | A | G | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.895-140A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96306304 | |||||||
chr8:96306362 | A | G | 9 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0255 others(6): Show |
9 | HG01891.hp1 HG02615.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.895-82A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96306362 | |||||||
chr8:96306432 | C | T | 20 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(17): Show |
21 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.895-12C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 7/12 | chr8 | 96306432 | |||||||
chr8:96306607 | A | G | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1007+51A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96306607 | |||||||
chr8:96306657 | G | A | 1 | a0001c0001t0001g0009 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1007+101G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96306657 | |||||||
chr8:96306669 | G | A | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1007+113G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96306669 | |||||||
chr8:96307051 | G | C | 1 | a0001c0001t0002g0213 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1007+495G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96307051 | |||||||
chr8:96307449 | C | CA | 23 | a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0001g0256 others(20): Show |
23 | HG00280.hp2 HG00621.hp1 HG00741.hp2 others(20): Show |
intron_variant | MODIFIER | c.1007+923dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CA | C | 11 | a0001c0001t0001g0157 a0001c0001t0001g0205 a0001c0001t0001g0233 others(8): Show |
11 | HG00733.hp2 HG01167.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.1007+923delA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CAA | C | 6 | a0001c0001t0001g0028 a0001c0001t0001g0114 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp1 HG02698.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.1007+922_1007+923d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CAAA | C | 24 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0031 others(21): Show |
24 | HG00438.hp2 HG00621.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.1007+921_1007+923d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CAAAA | C | 115 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(112): Show |
119 | HG00609.hp2 HG00733.hp1 HG00741.hp1 others(116): Show |
intron_variant | MODIFIER | c.1007+920_1007+923d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CAAAAA | C | 5 | a0001c0001t0001g0024 a0001c0001t0002g0064 a0001c0001t0002g0159 others(2): Show |
5 | HG01071.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.1007+919_1007+923d others(7): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307449 | CAAAAAAA others(4): Show |
C | 2 | a0001c0001t0003g0071 a0001c0001t0004g0087 |
2 | HG00280.hp1 HG03490.hp2 |
intron_variant | MODIFIER | c.1007+913_1007+923d others(13): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96307449 | ||||||
chr8:96307473 | A | G | 1 | a0003c0006t0027g0045 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1007+917A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96307473 | |||||||
chr8:96307876 | A | G | 22 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(19): Show |
22 | HG01069.hp1 HG01261.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.1007+1320A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96307876 | |||||||
chr8:96307889 | C | T | 5 | a0001c0001t0001g0134 a0001c0001t0002g0141 a0002c0002t0005g0130 others(2): Show |
5 | HG02145.hp1 HG02895.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1007+1333C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96307889 | |||||||
chr8:96307913 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1007+1357C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96307913 | |||||||
chr8:96308009 | T | C | 1 | a0001c0001t0001g0033 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1007+1453T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308009 | |||||||
chr8:96308037 | G | A | 1 | a0001c0001t0002g0113 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1007+1481G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308037 | |||||||
chr8:96308251 | T | C | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1008-1306T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308251 | |||||||
chr8:96308339 | A | G | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1008-1218A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308339 | |||||||
chr8:96308377 | G | A | 16 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(13): Show |
17 | HG00642.hp1 HG01070.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.1008-1180G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308377 | |||||||
chr8:96308628 | A | G | 1 | a0001c0001t0005g0042 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1008-929A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308628 | |||||||
chr8:96308799 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0019g0084 |
2 | HG02572.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1008-758C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308799 | |||||||
chr8:96308804 | GAATTTAA | G | 2 | a0001c0004t0001g0147 a0001c0004t0016g0153 |
2 | HG02572.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.1008-748_1008-742d others(9): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96308804 | ||||||
chr8:96308844 | C | T | 1 | a0001c0001t0001g0017 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1008-713C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96308844 | |||||||
chr8:96309193 | GT | G | 70 | a0001c0001t0001g0033 a0001c0001t0001g0166 a0001c0001t0001g0195 others(67): Show |
71 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.1008-334delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96309193 | ||||||
chr8:96309193 | GTT | G | 21 | a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0233 others(18): Show |
21 | HG00642.hp1 HG00733.hp1 HG01891.hp1 others(18): Show |
intron_variant | MODIFIER | c.1008-335_1008-334d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96309193 | ||||||
chr8:96309193 | GTTT | G | 45 | a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0039 others(42): Show |
46 | HG00438.hp2 HG01070.hp1 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.1008-336_1008-334d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96309193 | ||||||
chr8:96309193 | GTTTT | G | 94 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(91): Show |
97 | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(94): Show |
intron_variant | MODIFIER | c.1008-337_1008-334d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | 96309193 | ||||||
chr8:96309196 | T | G | 1 | a0001c0001t0001g0233 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1008-361T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96309196 | |||||||
chr8:96309204 | T | G | 1 | a0001c0001t0003g0089 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1008-353T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96309204 | |||||||
chr8:96309331 | G | A | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1008-226G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 8/12 | chr8 | 96309331 | |||||||
chr8:96309670 | T | A | 124 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0054 others(121): Show |
128 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(125): Show |
intron_variant | MODIFIER | c.1073+48T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96309670 | |||||||
chr8:96309731 | A | G | 22 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(19): Show |
23 | HG00642.hp1 HG01070.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.1073+109A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96309731 | |||||||
chr8:96309749 | A | ATATATC | 35 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(32): Show |
36 | HG00642.hp1 HG01070.hp1 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.1073+145_1073+150d others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96309749 | ||||||
chr8:96309749 | A | ATATATCT others(5): Show |
1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1073+139_1073+150d others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96309749 | ||||||
chr8:96310012 | AATTAGCT others(249): Show |
A | 1 | a0001c0001t0002g0124 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1073+394_1073+649d others(2): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96310012 | ||||||
chr8:96310053 | C | T | 1 | a0001c0001t0003g0071 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1073+431C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310053 | |||||||
chr8:96310129 | A | T | 1 | a0001c0001t0002g0035 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1073+507A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310129 | |||||||
chr8:96310169 | C | CT | 83 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(80): Show |
84 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(81): Show |
intron_variant | MODIFIER | c.1073+562dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96310169 | ||||||
chr8:96310169 | C | CTT | 22 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(19): Show |
22 | HG01069.hp1 HG01261.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.1073+561_1073+562d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96310169 | ||||||
chr8:96310169 | C | T | 1 | a0001c0001t0002g0235 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1073+547C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310169 | |||||||
chr8:96310282 | AGCCTCCC others(125): Show |
A | 1 | a0001c0001t0002g0124 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1073+670_1073+801d others(2): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96310282 | ||||||
chr8:96310289 | C | T | 2 | a0001c0001t0002g0072 a0001c0001t0002g0220 |
2 | HG00140.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.1073+667C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310289 | |||||||
chr8:96310312 | G | C | 1 | a0001c0001t0002g0074 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1073+690G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310312 | |||||||
chr8:96310332 | G | T | 4 | a0001c0001t0001g0053 a0001c0001t0001g0154 a0001c0001t0002g0067 others(1): Show |
4 | HG01517.hp1 HG02735.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1073+710G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310332 | |||||||
chr8:96310365 | G | A | 19 | a0001c0001t0001g0021 a0001c0001t0001g0118 a0001c0001t0001g0132 others(16): Show |
22 | HG00280.hp2 HG00733.hp2 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.1073+743G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310365 | |||||||
chr8:96310411 | C | G | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1073+789C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310411 | |||||||
chr8:96310411 | C | T | 3 | a0001c0001t0008g0036 a0001c0003t0001g0001 a0001c0003t0001g0003 |
6 | HG02717.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1073+789C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310411 | |||||||
chr8:96310442 | A | G | 5 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0083 others(2): Show |
5 | HG02622.hp1 HG02965.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1073+820A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310442 | |||||||
chr8:96310451 | C | T | 1 | a0001c0001t0001g0224 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1073+829C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310451 | |||||||
chr8:96310452 | G | A | 2 | a0001c0001t0002g0173 a0001c0001t0002g0194 |
2 | HG01109.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.1073+830G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310452 | |||||||
chr8:96310470 | CT | C | 7 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0002g0052 others(4): Show |
7 | HG00642.hp1 HG01168.hp2 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.1073+861delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96310470 | ||||||
chr8:96310484 | A | T | 1 | a0001c0001t0001g0183 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1073+862A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310484 | |||||||
chr8:96310630 | A | T | 5 | a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0004g0142 others(2): Show |
5 | HG02965.hp2 HG03540.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.1073+1008A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310630 | |||||||
chr8:96310636 | T | C | 49 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(46): Show |
50 | HG00140.hp2 HG00280.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.1073+1014T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310636 | |||||||
chr8:96310709 | A | G | 2 | a0001c0001t0002g0159 a0002c0002t0005g0158 |
2 | HG02257.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1073+1087A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310709 | |||||||
chr8:96310753 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1073+1131G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310753 | |||||||
chr8:96310834 | C | T | 1 | a0001c0001t0001g0203 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1073+1212C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310834 | |||||||
chr8:96310909 | G | A | 5 | a0001c0001t0001g0028 a0001c0001t0001g0116 a0001c0001t0001g0166 others(2): Show |
5 | HG00609.hp2 NA18943.hp1 NA18964.hp1 others(2): Show |
intron_variant | MODIFIER | c.1073+1287G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96310909 | |||||||
chr8:96311001 | G | A | 8 | a0001c0001t0002g0141 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02145.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.1073+1379G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311001 | |||||||
chr8:96311061 | C | T | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1073+1439C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311061 | |||||||
chr8:96311253 | G | A | 213 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(210): Show |
218 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.1073+1631G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311253 | |||||||
chr8:96311256 | C | T | 1 | a0001c0001t0002g0204 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1073+1634C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311256 | |||||||
chr8:96311257 | A | G | 81 | a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0001t0002g0004 others(78): Show |
82 | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(79): Show |
intron_variant | MODIFIER | c.1073+1635A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311257 | |||||||
chr8:96311519 | C | G | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1073+1897C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311519 | |||||||
chr8:96311615 | A | C | 81 | a0001c0001t0001g0190 a0001c0001t0001g0219 a0001c0001t0002g0004 others(78): Show |
82 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(79): Show |
intron_variant | MODIFIER | c.1073+1993A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311615 | |||||||
chr8:96311680 | T | A | 213 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(210): Show |
217 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.1073+2058T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311680 | |||||||
chr8:96311790 | A | T | 1 | a0001c0001t0021g0150 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1073+2168A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311790 | |||||||
chr8:96311854 | A | C | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1073+2232A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311854 | |||||||
chr8:96311888 | G | A | 85 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(82): Show |
86 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(83): Show |
intron_variant | MODIFIER | c.1073+2266G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311888 | |||||||
chr8:96311940 | G | C | 213 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(210): Show |
217 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.1073+2318G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96311940 | |||||||
chr8:96312054 | T | C | 90 | a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0151 others(87): Show |
91 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(88): Show |
intron_variant | MODIFIER | c.1073+2432T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312054 | |||||||
chr8:96312277 | G | A | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1073+2655G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312277 | |||||||
chr8:96312287 | C | T | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1073+2665C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312287 | |||||||
chr8:96312462 | C | CT | 15 | a0001c0001t0001g0132 a0001c0001t0005g0042 a0001c0001t0005g0128 others(12): Show |
18 | HG01257.hp2 HG01891.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.1073+2855dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96312462 | ||||||
chr8:96312462 | CT | C | 34 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0017 others(31): Show |
34 | HG00280.hp2 HG01069.hp1 HG01168.hp1 others(31): Show |
intron_variant | MODIFIER | c.1073+2855delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96312462 | ||||||
chr8:96312478 | A | T | 9 | a0001c0001t0002g0048 a0001c0001t0007g0090 a0001c0001t0007g0119 others(6): Show |
9 | HG01257.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1073+2856A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312478 | |||||||
chr8:96312529 | C | G | 1 | a0001c0001t0002g0188 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1073+2907C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312529 | |||||||
chr8:96312745 | G | A | 1 | a0001c0001t0002g0047 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1073+3123G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312745 | |||||||
chr8:96312794 | A | G | 4 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 others(1): Show |
4 | HG02258.hp2 HG02451.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1073+3172A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312794 | |||||||
chr8:96312825 | G | A | 1 | a0001c0001t0004g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1073+3203G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312825 | |||||||
chr8:96312958 | C | A | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1073+3336C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96312958 | |||||||
chr8:96313095 | C | T | 3 | a0001c0001t0003g0082 a0001c0001t0005g0042 a0001c0001t0005g0128 |
3 | HG02015.hp2 HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1073+3473C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313095 | |||||||
chr8:96313124 | C | A | 1 | a0001c0001t0012g0144 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1073+3502C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313124 | |||||||
chr8:96313145 | C | T | 2 | a0001c0001t0018g0155 a0001c0004t0016g0153 |
2 | HG01167.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.1073+3523C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313145 | |||||||
chr8:96313293 | C | T | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1073+3671C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313293 | |||||||
chr8:96313294 | G | A | 8 | a0001c0001t0002g0141 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02145.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.1073+3672G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313294 | |||||||
chr8:96313394 | C | T | 97 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(94): Show |
97 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(94): Show |
intron_variant | MODIFIER | c.1073+3772C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313394 | |||||||
chr8:96313543 | G | A | 4 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 others(1): Show |
4 | HG02258.hp2 HG02451.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1073+3921G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313543 | |||||||
chr8:96313732 | C | T | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1073+4110C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313732 | |||||||
chr8:96313734 | T | C | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1073+4112T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313734 | |||||||
chr8:96313859 | T | G | 113 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(110): Show |
113 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(110): Show |
intron_variant | MODIFIER | c.1073+4237T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96313859 | |||||||
chr8:96314238 | G | T | 99 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.1073+4616G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314238 | |||||||
chr8:96314340 | C | T | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1073+4718C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314340 | |||||||
chr8:96314341 | G | A | 1 | a0001c0001t0004g0142 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1073+4719G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314341 | |||||||
chr8:96314354 | T | C | 1 | a0001c0001t0005g0128 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1073+4732T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314354 | |||||||
chr8:96314421 | G | A | 1 | a0001c0001t0004g0246 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1073+4799G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314421 | |||||||
chr8:96314435 | A | AG | 214 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(211): Show |
218 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1073+4819dupG | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96314435 | ||||||
chr8:96314443 | C | A | 99 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.1073+4821C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314443 | |||||||
chr8:96314468 | G | A | 1 | a0001c0001t0002g0231 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1073+4846G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314468 | |||||||
chr8:96314478 | T | C | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1073+4856T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314478 | |||||||
chr8:96314479 | G | T | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1073+4857G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314479 | |||||||
chr8:96314553 | C | G | 1 | a0001c0001t0018g0155 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1073+4931C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314553 | |||||||
chr8:96314555 | C | G | 6 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0022 others(3): Show |
6 | HG02280.hp1 HG02559.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.1073+4933C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314555 | |||||||
chr8:96314584 | C | A | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1073+4962C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314584 | |||||||
chr8:96314690 | G | T | 27 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(24): Show |
27 | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1073+5068G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314690 | |||||||
chr8:96314717 | G | A | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1073+5095G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314717 | |||||||
chr8:96314888 | G | A | 99 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.1073+5266G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314888 | |||||||
chr8:96314978 | G | C | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1074-5268G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96314978 | |||||||
chr8:96315001 | T | C | 111 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(108): Show |
111 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(108): Show |
intron_variant | MODIFIER | c.1074-5245T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315001 | |||||||
chr8:96315066 | G | T | 99 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.1074-5180G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315066 | |||||||
chr8:96315067 | G | T | 99 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(96): Show |
99 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.1074-5179G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315067 | |||||||
chr8:96315235 | A | T | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-5011A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315235 | |||||||
chr8:96315256 | G | A | 2 | a0001c0001t0002g0096 a0001c0001t0002g0097 |
2 | HG02148.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1074-4990G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315256 | |||||||
chr8:96315306 | A | G | 5 | a0001c0001t0002g0141 a0002c0002t0005g0130 a0002c0002t0005g0136 others(2): Show |
5 | HG02145.hp1 HG02818.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1074-4940A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315306 | |||||||
chr8:96315451 | A | T | 37 | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0039 others(34): Show |
37 | HG00280.hp1 HG00609.hp2 HG00733.hp1 others(34): Show |
intron_variant | MODIFIER | c.1074-4795A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315451 | |||||||
chr8:96315600 | C | G | 2 | a0001c0001t0001g0055 a0001c0001t0002g0052 |
2 | HG00642.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.1074-4646C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315600 | |||||||
chr8:96315647 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1074-4599C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315647 | |||||||
chr8:96315696 | A | G | 3 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 |
3 | HG02258.hp2 HG02451.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1074-4550A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315696 | |||||||
chr8:96315861 | C | A | 4 | a0001c0001t0005g0042 a0001c0001t0005g0128 a0001c0001t0024g0129 others(1): Show |
4 | HG03195.hp1 HG03209.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1074-4385C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315861 | |||||||
chr8:96315891 | C | T | 1 | a0001c0001t0013g0254 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1074-4355C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315891 | |||||||
chr8:96315898 | A | C | 1 | a0001c0001t0001g0060 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1074-4348A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96315898 | |||||||
chr8:96316045 | C | A | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1074-4201C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316045 | |||||||
chr8:96316076 | C | T | 1 | a0001c0001t0002g0066 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1074-4170C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316076 | |||||||
chr8:96316080 | C | T | 211 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(208): Show |
215 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(212): Show |
intron_variant | MODIFIER | c.1074-4166C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316080 | |||||||
chr8:96316139 | G | C | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1074-4107G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316139 | |||||||
chr8:96316141 | T | A | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1074-4105T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316141 | |||||||
chr8:96316270 | G | A | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1074-3976G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316270 | |||||||
chr8:96316294 | C | T | 2 | a0001c0001t0007g0121 a0001c0001t0007g0122 |
2 | HG02615.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1074-3952C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316294 | |||||||
chr8:96316306 | C | A | 11 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 others(8): Show |
11 | HG01081.hp1 HG02145.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.1074-3940C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316306 | |||||||
chr8:96316318 | C | T | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1074-3928C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316318 | |||||||
chr8:96316407 | T | C | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1074-3839T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316407 | |||||||
chr8:96316430 | C | G | 1 | a0001c0001t0002g0141 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1074-3816C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316430 | |||||||
chr8:96316687 | A | T | 1 | a0001c0001t0002g0085 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1074-3559A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316687 | |||||||
chr8:96316720 | G | A | 14 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0037 others(11): Show |
14 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.1074-3526G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316720 | |||||||
chr8:96316733 | C | G | 3 | a0001c0001t0003g0103 a0001c0001t0003g0199 a0001c0001t0015g0200 |
3 | NA18952.hp2 NA18971.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.1074-3513C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96316733 | |||||||
chr8:96317033 | C | CTA | 209 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(206): Show |
210 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1074-3205_1074-320 others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317033 | ||||||
chr8:96317057 | A | ATGTGTGT others(3): Show |
4 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0058 others(1): Show |
4 | HG01081.hp1 HG02145.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1074-3183_1074-317 others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317057 | ||||||
chr8:96317071 | G | A | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1074-3175G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317071 | |||||||
chr8:96317071 | G | GTGTGTAT others(1): Show |
26 | a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0114 others(23): Show |
26 | HG00280.hp1 HG00609.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.1074-3174_1074-317 others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317071 | ||||||
chr8:96317071 | G | GTGTGTGT others(1): Show |
68 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(65): Show |
68 | HG00280.hp2 HG00642.hp1 HG01069.hp1 others(65): Show |
intron_variant | MODIFIER | c.1074-3174_1074-317 others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317071 | ||||||
chr8:96317071 | G | GTGTGTGT others(3): Show |
2 | a0001c0001t0006g0013 a0001c0001t0006g0014 |
2 | HG02258.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1074-3174_1074-317 others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317071 | ||||||
chr8:96317071 | G | GTGTGTGT others(3): Show |
14 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(11): Show |
14 | HG02647.hp2 HG02717.hp1 HG02818.hp2 others(11): Show |
intron_variant | MODIFIER | c.1074-3174_1074-317 others(14): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317071 | ||||||
chr8:96317071 | G | GTGTGTGT others(7): Show |
1 | a0001c0001t0001g0123 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1074-3174_1074-317 others(18): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317071 | ||||||
chr8:96317073 | A | G | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3173A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317073 | |||||||
chr8:96317075 | A | G | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3171A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317075 | |||||||
chr8:96317077 | A | G | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3169A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317077 | |||||||
chr8:96317079 | A | G | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3167A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317079 | |||||||
chr8:96317090 | G | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3156G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317090 | |||||||
chr8:96317092 | G | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3154G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317092 | |||||||
chr8:96317094 | G | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3152G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317094 | |||||||
chr8:96317096 | G | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3150G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317096 | |||||||
chr8:96317098 | C | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3148C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317098 | |||||||
chr8:96317099 | A | G | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-3147A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317099 | |||||||
chr8:96317138 | C | A | 102 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(99): Show |
102 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(99): Show |
intron_variant | MODIFIER | c.1074-3108C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317138 | |||||||
chr8:96317288 | T | C | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1074-2958T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317288 | |||||||
chr8:96317345 | G | A | 1 | a0001c0001t0018g0155 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1074-2901G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317345 | |||||||
chr8:96317429 | C | CT | 209 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(206): Show |
210 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1074-2817_1074-281 others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317429 | |||||||
chr8:96317533 | G | A | 1 | a0001c0001t0003g0244 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1074-2713G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317533 | |||||||
chr8:96317715 | A | G | 62 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(59): Show |
62 | HG00280.hp1 HG00609.hp2 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.1074-2531A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317715 | |||||||
chr8:96317729 | G | A | 2 | a0001c0001t0005g0042 a0001c0001t0005g0128 |
2 | HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-2517G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317729 | |||||||
chr8:96317753 | A | C | 1 | a0001c0001t0002g0044 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1074-2493A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317753 | |||||||
chr8:96317757 | G | GA | 80 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(77): Show |
81 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(78): Show |
intron_variant | MODIFIER | c.1074-2483dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317757 | ||||||
chr8:96317790 | T | C | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-2456T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317790 | |||||||
chr8:96317838 | C | G | 8 | a0001c0001t0025g0146 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1074-2408C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317838 | |||||||
chr8:96317878 | A | AGT | 7 | a0001c0001t0003g0082 a0001c0001t0003g0251 a0001c0001t0010g0165 others(4): Show |
9 | HG01934.hp2 HG02015.hp2 HG02155.hp1 others(6): Show |
intron_variant | MODIFIER | c.1074-2327_1074-232 others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | A | AGTGT | 3 | a0001c0001t0002g0230 a0001c0001t0003g0080 a0001c0001t0010g0208 |
3 | HG00438.hp2 HG01975.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.1074-2329_1074-232 others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | A | AGTGTGT | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-2331_1074-232 others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGT | A | 9 | a0001c0001t0002g0085 a0001c0001t0003g0046 a0001c0001t0003g0081 others(6): Show |
10 | HG00621.hp2 HG00642.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.1074-2327_1074-232 others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGT | A | 10 | a0001c0001t0002g0179 a0001c0001t0003g0095 a0001c0001t0003g0098 others(7): Show |
10 | HG00609.hp1 HG02056.hp1 HG03209.hp1 others(7): Show |
intron_variant | MODIFIER | c.1074-2329_1074-232 others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGTGT | A | 3 | a0001c0001t0005g0042 a0001c0001t0005g0128 a0001c0004t0016g0153 |
3 | HG02970.hp1 HG03540.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1074-2331_1074-232 others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGTGTG others(1): Show |
A | 8 | a0001c0001t0022g0232 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02055.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.1074-2333_1074-232 others(12): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGTGTG others(5): Show |
A | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1074-2337_1074-232 others(16): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGTGTG others(17): Show |
A | 10 | a0001c0001t0001g0055 a0001c0001t0001g0131 a0001c0001t0001g0133 others(7): Show |
10 | HG00642.hp1 HG01109.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.1074-2349_1074-232 others(28): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317878 | AGTGTGTG others(19): Show |
A | 94 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(91): Show |
94 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(91): Show |
intron_variant | MODIFIER | c.1074-2351_1074-232 others(30): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317878 | ||||||
chr8:96317897 | G | A | 3 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 |
3 | HG02258.hp2 HG02451.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1074-2349G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317897 | |||||||
chr8:96317909 | G | A | 3 | a0001c0001t0002g0085 a0001c0001t0002g0159 a0001c0001t0002g0185 |
3 | HG00642.hp2 HG02257.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1074-2337G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317909 | |||||||
chr8:96317909 | G | GTGTA | 67 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(64): Show |
68 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.1074-2334_1074-233 others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317909 | ||||||
chr8:96317909 | G | GTGTATA | 3 | a0001c0001t0007g0090 a0001c0001t0007g0119 a0001c0001t0007g0120 |
3 | HG01257.hp2 HG01891.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1074-2334_1074-233 others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317909 | ||||||
chr8:96317909 | G | GTGTGTA | 8 | a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0102 others(5): Show |
8 | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.1074-2332_1074-233 others(10): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96317909 | ||||||
chr8:96317943 | A | G | 1 | a0001c0001t0007g0090 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1074-2303A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317943 | |||||||
chr8:96317960 | TC | T | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1074-2285delC | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317960 | |||||||
chr8:96317967 | A | G | 1 | a0001c0001t0004g0246 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1074-2279A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96317967 | |||||||
chr8:96318063 | G | A | 2 | a0001c0001t0001g0026 a0001c0001t0001g0034 |
2 | HG02486.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1074-2183G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318063 | |||||||
chr8:96318218 | G | A | 1 | a0001c0001t0001g0257 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1074-2028G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318218 | |||||||
chr8:96318227 | A | T | 8 | a0001c0001t0025g0146 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1074-2019A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318227 | |||||||
chr8:96318273 | G | A | 1 | a0001c0001t0003g0030 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1074-1973G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318273 | |||||||
chr8:96318296 | C | T | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
104 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.1074-1950C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318296 | |||||||
chr8:96318322 | T | TA | 74 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(71): Show |
74 | HG00280.hp1 HG00609.hp2 HG00642.hp1 others(71): Show |
intron_variant | MODIFIER | c.1074-1913dupA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318322 | ||||||
chr8:96318322 | T | TAA | 30 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(27): Show |
30 | HG00280.hp2 HG01069.hp1 HG01168.hp2 others(27): Show |
intron_variant | MODIFIER | c.1074-1914_1074-191 others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318322 | ||||||
chr8:96318382 | A | G | 2 | a0001c0001t0006g0013 a0001c0001t0006g0014 |
2 | HG02258.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1074-1864A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318382 | |||||||
chr8:96318407 | T | C | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1074-1839T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318407 | |||||||
chr8:96318421 | C | T | 7 | a0001c0001t0002g0179 a0001c0001t0003g0095 a0001c0001t0003g0098 others(4): Show |
7 | HG00609.hp1 NA18952.hp2 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.1074-1825C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318421 | |||||||
chr8:96318422 | A | G | 1 | a0001c0001t0008g0027 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1074-1824A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318422 | |||||||
chr8:96318438 | C | T | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-1808C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318438 | |||||||
chr8:96318463 | C | A | 102 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(99): Show |
102 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(99): Show |
intron_variant | MODIFIER | c.1074-1783C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318463 | |||||||
chr8:96318523 | A | C | 113 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(110): Show |
113 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(110): Show |
intron_variant | MODIFIER | c.1074-1723A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318523 | |||||||
chr8:96318775 | A | G | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-1471A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318775 | |||||||
chr8:96318798 | T | C | 218 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(215): Show |
223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.1074-1448T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318798 | |||||||
chr8:96318902 | C | CT | 21 | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0002g0179 others(18): Show |
24 | HG00621.hp2 HG01257.hp2 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.1074-1318dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318902 | C | CTT | 6 | a0001c0001t0001g0152 a0001c0001t0002g0161 a0001c0001t0003g0075 others(3): Show |
6 | HG01496.hp2 HG02615.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1074-1319_1074-131 others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318902 | C | CTTT | 45 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0002g0004 others(42): Show |
46 | HG01168.hp1 HG01243.hp1 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.1074-1320_1074-131 others(7): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318902 | C | CTTTT | 35 | a0001c0001t0002g0035 a0001c0001t0002g0044 a0001c0001t0002g0063 others(32): Show |
35 | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(32): Show |
intron_variant | MODIFIER | c.1074-1321_1074-131 others(8): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318902 | CT | C | 76 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(73): Show |
76 | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.1074-1318delT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318902 | CTTTTT | C | 6 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 others(3): Show |
6 | HG01081.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1074-1322_1074-131 others(9): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96318902 | ||||||
chr8:96318904 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1074-1342T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96318904 | |||||||
chr8:96319137 | C | A | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1074-1109C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319137 | |||||||
chr8:96319156 | C | T | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1074-1090C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319156 | |||||||
chr8:96319157 | G | A | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1074-1089G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319157 | |||||||
chr8:96319248 | A | C | 1 | a0001c0001t0012g0110 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1074-998A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319248 | |||||||
chr8:96319488 | C | T | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1074-758C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319488 | |||||||
chr8:96319495 | T | TAA | 87 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(84): Show |
88 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(85): Show |
intron_variant | MODIFIER | c.1074-743_1074-742d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96319495 | ||||||
chr8:96319495 | T | TAAA | 10 | a0001c0001t0007g0122 a0001c0001t0025g0146 a0001c0004t0016g0153 others(7): Show |
10 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.1074-744_1074-742d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr8 | 96319495 | ||||||
chr8:96319584 | A | G | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1074-662A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319584 | |||||||
chr8:96319676 | T | C | 1 | a0001c0001t0003g0089 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1074-570T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319676 | |||||||
chr8:96319692 | A | G | 1 | a0001c0001t0013g0252 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1074-554A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319692 | |||||||
chr8:96319736 | C | T | 1 | a0001c0001t0002g0194 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1074-510C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319736 | |||||||
chr8:96319938 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1074-308G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319938 | |||||||
chr8:96319940 | G | A | 88 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(85): Show |
89 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.1074-306G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319940 | |||||||
chr8:96319942 | C | T | 1 | a0001c0001t0006g0058 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1074-304C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96319942 | |||||||
chr8:96320023 | A | G | 213 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(210): Show |
217 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.1074-223A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96320023 | |||||||
chr8:96320030 | G | A | 1 | a0001c0001t0004g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1074-216G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96320030 | |||||||
chr8:96320053 | A | C | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1074-193A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 9/12 | chr8 | 96320053 | |||||||
chr8:96320418 | G | A | 1 | a0001c0001t0002g0048 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1173+73G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320418 | |||||||
chr8:96320433 | A | G | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
104 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.1173+88A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320433 | |||||||
chr8:96320442 | C | T | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1173+97C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320442 | |||||||
chr8:96320582 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1173+237C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320582 | |||||||
chr8:96320624 | T | C | 201 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(198): Show |
202 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(199): Show |
intron_variant | MODIFIER | c.1173+279T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320624 | |||||||
chr8:96320758 | C | T | 8 | a0001c0001t0025g0146 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1173+413C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320758 | |||||||
chr8:96320969 | A | G | 209 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(206): Show |
210 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1173+624A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96320969 | |||||||
chr8:96321009 | G | A | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1173+664G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321009 | |||||||
chr8:96321038 | T | C | 1 | a0001c0001t0004g0043 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1173+693T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321038 | |||||||
chr8:96321148 | C | T | 6 | a0001c0001t0002g0068 a0001c0001t0002g0092 a0001c0001t0002g0093 others(3): Show |
6 | NA18948.hp1 NA18954.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1173+803C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321148 | |||||||
chr8:96321597 | A | G | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
104 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.1173+1252A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321597 | |||||||
chr8:96321613 | T | C | 1 | a0001c0001t0002g0065 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1173+1268T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321613 | |||||||
chr8:96321733 | C | T | 1 | a0001c0001t0017g0149 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1173+1388C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321733 | |||||||
chr8:96321787 | A | G | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1173+1442A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321787 | |||||||
chr8:96321891 | T | C | 214 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(211): Show |
218 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1173+1546T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96321891 | |||||||
chr8:96322133 | C | T | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1173+1788C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322133 | |||||||
chr8:96322158 | C | T | 5 | a0001c0001t0009g0050 a0001c0001t0009g0061 a0001c0001t0009g0062 others(2): Show |
5 | HG01070.hp1 HG02809.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1173+1813C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322158 | |||||||
chr8:96322240 | C | T | 1 | a0001c0001t0020g0227 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1173+1895C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322240 | |||||||
chr8:96322360 | G | A | 3 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0127 |
3 | HG01081.hp1 HG02145.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1173+2015G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322360 | |||||||
chr8:96322557 | C | G | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1173+2212C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322557 | |||||||
chr8:96322622 | A | T | 112 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(109): Show |
112 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(109): Show |
intron_variant | MODIFIER | c.1173+2277A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322622 | |||||||
chr8:96322805 | G | A | 8 | a0001c0001t0025g0146 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1173+2460G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322805 | |||||||
chr8:96322839 | C | T | 29 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show |
29 | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(26): Show |
intron_variant | MODIFIER | c.1173+2494C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96322839 | |||||||
chr8:96323180 | G | A | 1 | a0001c0001t0009g0061 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1173+2835G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96323180 | |||||||
chr8:96323215 | C | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0256 |
2 | HG01069.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.1173+2870C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96323215 | |||||||
chr8:96323260 | T | C | 1 | a0001c0001t0002g0163 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1173+2915T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96323260 | |||||||
chr8:96323389 | G | A | 8 | a0001c0001t0025g0146 a0002c0002t0005g0051 a0002c0002t0005g0130 others(5): Show |
8 | HG02717.hp1 HG02818.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.1173+3044G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96323389 | |||||||
chr8:96323391 | C | T | 1 | a0001c0001t0012g0110 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1173+3046C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96323391 | |||||||
chr8:96324269 | G | T | 212 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(209): Show |
216 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
intron_variant | MODIFIER | c.1173+3924G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96324269 | |||||||
chr8:96324285 | A | G | 3 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0058 |
3 | HG02258.hp2 HG02451.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1173+3940A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96324285 | |||||||
chr8:96324553 | C | T | 1 | a0001c0001t0002g0085 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1173+4208C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96324553 | |||||||
chr8:96324972 | C | T | 1 | a0001c0001t0002g0074 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1173+4627C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96324972 | |||||||
chr8:96324975 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1173+4630G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96324975 | |||||||
chr8:96325150 | T | C | 2 | a0001c0001t0024g0129 a0001c0005t0001g0012 |
2 | HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1173+4805T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96325150 | |||||||
chr8:96325285 | C | T | 79 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(76): Show |
80 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.1174-4928C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96325285 | |||||||
chr8:96325428 | A | G | 106 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(103): Show |
106 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(103): Show |
intron_variant | MODIFIER | c.1174-4785A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96325428 | |||||||
chr8:96325618 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1174-4595G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96325618 | |||||||
chr8:96326041 | T | C | 211 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(208): Show |
215 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(212): Show |
intron_variant | MODIFIER | c.1174-4172T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326041 | |||||||
chr8:96326042 | G | T | 73 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(70): Show |
74 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.1174-4171G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326042 | |||||||
chr8:96326068 | G | C | 90 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(87): Show |
91 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(88): Show |
intron_variant | MODIFIER | c.1174-4145G>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326068 | |||||||
chr8:96326172 | C | T | 6 | a0001c0001t0007g0090 a0001c0001t0007g0119 a0001c0001t0007g0120 others(3): Show |
6 | HG01257.hp2 HG01891.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1174-4041C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326172 | |||||||
chr8:96326234 | C | T | 1 | a0001c0001t0001g0111 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1174-3979C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326234 | |||||||
chr8:96326367 | G | GT | 42 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(39): Show |
42 | HG00280.hp2 HG01069.hp1 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.1174-3838dupT | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | 96326367 | ||||||
chr8:96326378 | A | C | 1 | a0001c0001t0001g0039 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1174-3835A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326378 | |||||||
chr8:96326607 | C | T | 89 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(86): Show |
90 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(87): Show |
intron_variant | MODIFIER | c.1174-3606C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326607 | |||||||
chr8:96326703 | A | G | 106 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(103): Show |
106 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(103): Show |
intron_variant | MODIFIER | c.1174-3510A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326703 | |||||||
chr8:96326857 | G | A | 2 | a0001c0003t0001g0001 a0001c0003t0001g0003 |
5 | HG02895.hp1 HG02897.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1174-3356G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326857 | |||||||
chr8:96326863 | G | T | 6 | a0001c0001t0007g0090 a0001c0001t0007g0119 a0001c0001t0007g0120 others(3): Show |
6 | HG01257.hp2 HG01891.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1174-3350G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96326863 | |||||||
chr8:96327023 | A | G | 212 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(209): Show |
216 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
intron_variant | MODIFIER | c.1174-3190A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327023 | |||||||
chr8:96327025 | G | T | 26 | a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0114 others(23): Show |
26 | HG00280.hp1 HG00609.hp2 HG00733.hp1 others(23): Show |
intron_variant | MODIFIER | c.1174-3188G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327025 | |||||||
chr8:96327284 | A | G | 2 | a0001c0001t0004g0040 a0001c0001t0004g0041 |
2 | HG03491.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1174-2929A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327284 | |||||||
chr8:96327284 | A | T | 209 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(206): Show |
213 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.1174-2929A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327284 | |||||||
chr8:96327368 | T | C | 6 | a0001c0001t0002g0068 a0001c0001t0002g0092 a0001c0001t0002g0093 others(3): Show |
6 | NA18948.hp1 NA18954.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1174-2845T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327368 | |||||||
chr8:96327485 | C | T | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1174-2728C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327485 | |||||||
chr8:96327555 | C | T | 1 | a0001c0001t0008g0027 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1174-2658C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327555 | |||||||
chr8:96327776 | C | G | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
104 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(101): Show |
intron_variant | MODIFIER | c.1174-2437C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327776 | |||||||
chr8:96327863 | G | A | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1174-2350G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327863 | |||||||
chr8:96327888 | C | G | 85 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(82): Show |
86 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(83): Show |
intron_variant | MODIFIER | c.1174-2325C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327888 | |||||||
chr8:96327999 | C | T | 2 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1174-2214C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96327999 | |||||||
chr8:96328017 | C | T | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1174-2196C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328017 | |||||||
chr8:96328333 | T | A | 39 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(36): Show |
39 | HG00280.hp2 HG01069.hp1 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.1174-1880T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328333 | |||||||
chr8:96328592 | T | G | 2 | a0001c0001t0007g0119 a0001c0001t0007g0120 |
2 | HG01891.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1174-1621T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328592 | |||||||
chr8:96328612 | T | C | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1174-1601T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328612 | |||||||
chr8:96328697 | A | T | 105 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(102): Show |
108 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(105): Show |
intron_variant | MODIFIER | c.1174-1516A>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328697 | |||||||
chr8:96328731 | C | T | 1 | a0001c0001t0003g0237 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1174-1482C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328731 | |||||||
chr8:96328948 | C | G | 1 | a0001c0001t0023g0126 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1174-1265C>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96328948 | |||||||
chr8:96329018 | A | G | 3 | a0001c0001t0021g0150 a0001c0001t0024g0129 a0001c0005t0001g0012 |
3 | HG02809.hp2 HG03195.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.1174-1195A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329018 | |||||||
chr8:96329162 | A | C | 88 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(85): Show |
89 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.1174-1051A>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329162 | |||||||
chr8:96329178 | G | A | 91 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(88): Show |
92 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.1174-1035G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329178 | |||||||
chr8:96329347 | CG | C | 88 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(85): Show |
89 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.1174-862delG | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | 96329347 | ||||||
chr8:96329454 | T | A | 2 | a0001c0001t0002g0063 a0001c0001t0002g0064 |
2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1174-759T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329454 | |||||||
chr8:96329673 | A | G | 1 | a0001c0001t0008g0210 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1174-540A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329673 | |||||||
chr8:96329827 | C | A | 1 | a0001c0001t0004g0243 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1174-386C>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329827 | |||||||
chr8:96329828 | G | T | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1174-385G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329828 | |||||||
chr8:96329862 | A | G | 91 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(88): Show |
92 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.1174-351A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329862 | |||||||
chr8:96329891 | T | A | 1 | a0001c0005t0001g0012 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1174-322T>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96329891 | |||||||
chr8:96330129 | G | A | 1 | a0001c0001t0001g0154 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1174-84G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96330129 | |||||||
chr8:96330205 | T | C | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp2 | splice_region_variant&intron_variant | LOW | c.1174-8T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 10/12 | chr8 | 96330205 | |||||||
chr8:96330308 | A | G | 92 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 others(89): Show |
93 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(90): Show |
intron_variant | MODIFIER | c.1242+27A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | chr8 | 96330308 | |||||||
chr8:96330334 | C | T | 3 | a0001c0001t0002g0163 a0001c0001t0002g0230 a0001c0001t0002g0231 |
3 | HG01975.hp2 HG02148.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.1242+53C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | chr8 | 96330334 | |||||||
chr8:96330354 | C | T | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
107 | HG00280.hp1 HG00280.hp2 HG00609.hp2 others(104): Show |
intron_variant | MODIFIER | c.1242+73C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | chr8 | 96330354 | |||||||
chr8:96330469 | G | GCT | 28 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(25): Show |
28 | HG00280.hp2 HG01168.hp2 HG01169.hp2 others(25): Show |
intron_variant | MODIFIER | c.1242+191_1242+192d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr8 | 96330469 | ||||||
chr8:96330728 | G | A | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1243-298G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | chr8 | 96330728 | |||||||
chr8:96330948 | G | T | 88 | a0001c0001t0002g0004 a0001c0001t0002g0035 a0001c0001t0002g0044 others(85): Show |
89 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.1243-78G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 11/12 | chr8 | 96330948 | |||||||
chr8:96331098 | ATCTTGT | A | 63 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(60): Show |
63 | HG00140.hp2 HG00280.hp1 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.1312+12_1312+17del others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96331098 | ||||||
chr8:96331215 | G | A | 1 | a0001c0001t0002g0184 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1312+120G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331215 | |||||||
chr8:96331255 | C | T | 2 | a0001c0001t0001g0139 a0001c0001t0002g0067 |
2 | HG02809.hp1 HG03491.hp1 |
intron_variant | MODIFIER | c.1312+160C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331255 | |||||||
chr8:96331297 | G | A | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1312+202G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331297 | |||||||
chr8:96331426 | C | T | 1 | a0001c0001t0025g0146 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1312+331C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331426 | |||||||
chr8:96331436 | G | A | 5 | a0001c0001t0001g0033 a0001c0001t0009g0050 a0001c0001t0009g0061 others(2): Show |
5 | HG01070.hp1 HG02886.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1312+341G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331436 | |||||||
chr8:96331443 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1312+348C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331443 | |||||||
chr8:96331546 | G | T | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1312+451G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331546 | |||||||
chr8:96331574 | CA | C | 8 | a0001c0001t0002g0068 a0001c0001t0006g0013 a0001c0001t0006g0014 others(5): Show |
8 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1312+492delA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96331574 | ||||||
chr8:96331583 | A | G | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1312+488A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331583 | |||||||
chr8:96331805 | G | A | 1 | a0001c0001t0003g0170 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1312+710G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96331805 | |||||||
chr8:96332010 | T | C | 15 | a0001c0001t0005g0042 a0001c0001t0005g0128 a0001c0001t0006g0013 others(12): Show |
15 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.1312+915T>C | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332010 | |||||||
chr8:96332017 | TA | T | 18 | a0001c0001t0003g0002 a0001c0001t0003g0046 a0001c0001t0003g0049 others(15): Show |
19 | HG00438.hp2 HG00609.hp1 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.1312+952delA | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96332017 | ||||||
chr8:96332017 | TAA | T | 22 | a0001c0001t0001g0028 a0001c0001t0001g0242 a0001c0001t0002g0052 others(19): Show |
22 | HG00140.hp2 HG01175.hp2 HG01934.hp2 others(19): Show |
intron_variant | MODIFIER | c.1312+951_1312+952d others(4): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96332017 | ||||||
chr8:96332017 | TAAA | T | 36 | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0054 others(33): Show |
36 | HG00280.hp1 HG00438.hp1 HG00609.hp2 others(33): Show |
intron_variant | MODIFIER | c.1312+950_1312+952d others(5): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96332017 | ||||||
chr8:96332017 | TAAAA | T | 121 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(118): Show |
125 | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(122): Show |
intron_variant | MODIFIER | c.1312+949_1312+952d others(6): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96332017 | ||||||
chr8:96332017 | TAAAAA | T | 50 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(47): Show |
50 | HG00280.hp2 HG01167.hp1 HG01168.hp2 others(47): Show |
intron_variant | MODIFIER | c.1312+948_1312+952d others(7): Show |
PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr8 | 96332017 | ||||||
chr8:96332129 | A | G | 1 | a0001c0001t0002g0231 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1312+1034A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332129 | |||||||
chr8:96332142 | G | A | 1 | a0001c0001t0003g0170 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1312+1047G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332142 | |||||||
chr8:96332160 | C | T | 1 | a0001c0001t0018g0155 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1312+1065C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332160 | |||||||
chr8:96332201 | C | T | 1 | a0001c0001t0001g0226 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1312+1106C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332201 | |||||||
chr8:96332259 | C | T | 1 | a0001c0001t0003g0198 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1312+1164C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332259 | |||||||
chr8:96332726 | G | T | 1 | a0001c0001t0002g0035 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1313-731G>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332726 | |||||||
chr8:96332752 | T | G | 1 | a0001c0001t0001g0010 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1313-705T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96332752 | |||||||
chr8:96333099 | G | A | 1 | a0001c0001t0001g0183 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1313-358G>A | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96333099 | |||||||
chr8:96333105 | C | T | 3 | a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | HG01884.hp1 HG02965.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1313-352C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96333105 | |||||||
chr8:96333132 | T | G | 13 | a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0037 others(10): Show |
13 | HG01081.hp1 HG02145.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.1313-325T>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96333132 | |||||||
chr8:96333246 | C | T | 1 | a0001c0004t0016g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1313-211C>T | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96333246 | |||||||
chr8:96333362 | A | G | 175 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0015 others(172): Show |
179 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(176): Show |
intron_variant | MODIFIER | c.1313-95A>G | PTDSS1 | ENSG00000156471.13 | transcript | ENST00000517309.6 | protein_coding | 12/12 | chr8 | 96333362 |