Item | Value |
---|---|
geneid | 94097 |
ensemblid | ENSG00000144040.13 |
hgncid | 16073 |
symbol | SFXN5 |
name | sideroflexin 5 |
refseq_nuc | NM_144579.3 |
refseq_prot | NP_653180.1 |
ensembl_nuc | ENST00000272433.7 |
ensembl_prot | ENSP00000272433.2 |
mane_status | MANE Select |
chr | chr2 |
start | 72942036 |
end | 73071712 |
strand | - |
ver | v1.2 |
region | chr2:72942036-73071712 |
region5000 | chr2:72937036-73076712 |
regionname0 | SFXN5_chr2_72942036_73071712 |
regionname5000 | SFXN5_chr2_72937036_73076712 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 340 | 247 | 88 | 43 | 78 | 10 | 26 | 54 | SFXN5_chr2_72937036_73076712 | SFXN5 | MADTA others(335): Show |
chr2 | 72937036 | 73076712 |
a0002 | 0/0 | 340 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | MADTA others(335): Show |
chr2 | 72937036 | 73076712 |
a0003 | 0/0 | 340 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | MADTA others(335): Show |
chr2 | 72937036 | 73076712 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 1020 | 128 | 46 | 26 | 29 | 7 | 18 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0002 | 0/0 | 1020 | 100 | 27 | 13 | 49 | 3 | 8 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0003 | 0/0 | 1020 | 7 | 5 | 2 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0004 | 0/0 | 1020 | 3 | 3 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0006 | 0/0 | 1020 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0008 | 0/0 | 1020 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0009 | 0/0 | 1020 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0010 | 0/0 | 1020 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0011 | 0/0 | 1020 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0012 | 0/0 | 1020 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0013 | 0/0 | 1020 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0001c0014 | 0/0 | 1020 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0002c0005 | 0/0 | 1020 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 | ||
a0003c0007 | 0/0 | 1020 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | ATGGC others(1015): Show |
chr2 | 72937036 | 73076712 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 4016 | 67 | 4 | 18 | 24 | 4 | 16 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0002 | 0/1 | 4015 | 26 | 16 | 5 | 4 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0003 | 0/0 | 4016 | 9 | 7 | 1 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0004 | 0/0 | 4016 | 5 | 5 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0005 | 0/0 | 4015 | 3 | 3 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0008 | 0/0 | 4015 | 4 | 1 | 0 | 0 | 1 | 2 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0009 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0010 | 0/0 | 4016 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0011 | 0/0 | 4016 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0014 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0015 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0016 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0019 | 0/0 | 4016 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0021 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0024 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0025 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0026 | 0/0 | 4016 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0001t0027 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0001 | 0/0 | 4016 | 59 | 2 | 7 | 41 | 2 | 7 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0002 | 0/0 | 4015 | 16 | 8 | 0 | 7 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0003 | 0/0 | 4016 | 6 | 6 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0004 | 0/0 | 4016 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0005 | 0/0 | 4015 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0008 | 0/0 | 4015 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0009 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0010 | 0/0 | 4016 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0011 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0012 | 0/0 | 4016 | 2 | 1 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0013 | 0/0 | 4016 | 2 | 0 | 2 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0014 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0016 | 0/0 | 4015 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0018 | 0/0 | 4016 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0020 | 0/0 | 4016 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0022 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0002t0023 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0003t0006 | 0/0 | 4016 | 6 | 4 | 2 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0003t0017 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0004t0005 | 0/0 | 4015 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0004t0007 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0006t0007 | 0/0 | 4015 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0008t0001 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0009t0004 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0001c0010t0007 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0011t0002 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0012t0007 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0013t0015 | 0/0 | 4015 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4010): Show |
chr2 | 72937036 | 73076712 |
a0001c0014t0003 | 0/0 | 4016 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0002c0005t0009 | 0/0 | 4016 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
a0003c0007t0001 | 0/0 | 4016 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | AGTGG others(4011): Show |
chr2 | 72937036 | 73076712 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/0 | 2 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0002g0229 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0003g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0004g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0004g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0004g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0004g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0004g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0005g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0005g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0005g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0008g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0008g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0008g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0008g0228 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0009g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0010g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0010g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0011g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0011g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0014g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0015g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0016g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0019g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0021g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0024g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0025g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0026g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0001t0027g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0003g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0004g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0004g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0005g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0005g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0008g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0009g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0010g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0010g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0011g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0012g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0012g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0013g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0013g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0014g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0016g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0018g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0020g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0022g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0002t0023g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0006g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0003t0017g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0004t0005g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0004t0005g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0004t0007g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0006t0007g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0006t0007g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0008t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0009t0004g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0010t0007g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0011t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0012t0007g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0013t0015g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0001c0014t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0002c0005t0009g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0002c0005t0009g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
a0003c0007t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0080 | EUR | GBR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0101 | EUR | GBR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00140 | hp1 | a0001 | c0001 | t0019 | g0189 | EUR | GBR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0114 | EUR | GBR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0135 | EUR | FIN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00280 | hp2 | a0001 | c0002 | t0018 | g0199 | EUR | FIN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00323 | hp1 | a0001 | c0001 | t0003 | g0104 | EUR | FIN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00323 | hp2 | a0001 | c0002 | t0001 | g0197 | EUR | FIN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00438 | hp1 | a0001 | c0002 | t0001 | g0219 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00438 | hp2 | a0001 | c0002 | t0001 | g0065 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00544 | hp1 | a0001 | c0002 | t0001 | g0037 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00597 | hp1 | a0001 | c0002 | t0001 | g0058 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00597 | hp2 | a0001 | c0002 | t0001 | g0167 | EAS | CHS | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0107 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00733 | hp1 | a0001 | c0001 | t0002 | g0170 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00733 | hp2 | a0001 | c0002 | t0001 | g0051 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00735 | hp1 | a0001 | c0003 | t0006 | g0017 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00735 | hp2 | a0003 | c0007 | t0001 | g0139 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00738 | hp2 | a0001 | c0001 | t0014 | g0245 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00741 | hp1 | a0001 | c0002 | t0013 | g0076 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01070 | hp1 | a0001 | c0002 | t0001 | g0151 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0110 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01099 | hp2 | a0001 | c0002 | t0012 | g0094 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01109 | hp1 | a0001 | c0003 | t0006 | g0018 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01109 | hp2 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01169 | hp1 | a0001 | c0001 | t0002 | g0169 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01192 | hp1 | a0001 | c0002 | t0014 | g0198 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0149 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01243 | hp1 | a0001 | c0002 | t0016 | g0235 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01243 | hp2 | a0001 | c0009 | t0004 | g0027 | AMR | PUR | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01255 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0098 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01256 | hp2 | a0001 | c0002 | t0013 | g0075 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01261 | hp2 | a0001 | c0002 | t0008 | g0028 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01361 | hp1 | a0001 | c0001 | t0002 | g0140 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01361 | hp2 | a0001 | c0001 | t0021 | g0010 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01433 | hp1 | a0001 | c0002 | t0001 | g0072 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0160 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01884 | hp1 | a0001 | c0001 | t0004 | g0195 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01884 | hp2 | a0001 | c0001 | t0003 | g0241 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01891 | hp1 | a0001 | c0001 | t0011 | g0171 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01891 | hp2 | a0001 | c0001 | t0015 | g0194 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01975 | hp1 | a0001 | c0002 | t0001 | g0071 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01975 | hp2 | a0001 | c0001 | t0003 | g0165 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01978 | hp1 | a0001 | c0002 | t0001 | g0070 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01978 | hp2 | a0001 | c0001 | t0002 | g0162 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01981 | hp1 | a0001 | c0008 | t0001 | g0113 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01981 | hp2 | a0001 | c0002 | t0001 | g0067 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02015 | hp2 | a0001 | c0002 | t0001 | g0053 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02055 | hp1 | a0001 | c0002 | t0002 | g0032 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02055 | hp2 | a0001 | c0012 | t0007 | g0088 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02056 | hp1 | a0001 | c0002 | t0001 | g0052 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02071 | hp1 | a0001 | c0002 | t0001 | g0035 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02071 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02074 | hp1 | a0001 | c0002 | t0001 | g0054 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02080 | hp2 | a0001 | c0001 | t0002 | g0043 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02083 | hp1 | a0001 | c0002 | t0001 | g0050 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02083 | hp2 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0227 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02145 | hp2 | a0001 | c0014 | t0003 | g0005 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02165 | hp1 | a0001 | c0002 | t0001 | g0057 | EAS | CDX | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | CDX | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02257 | hp1 | a0001 | c0004 | t0005 | g0244 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02257 | hp2 | a0001 | c0001 | t0003 | g0128 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02258 | hp1 | a0001 | c0001 | t0003 | g0191 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0121 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02280 | hp1 | a0001 | c0003 | t0017 | g0023 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02280 | hp2 | a0001 | c0001 | t0005 | g0242 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02300 | hp2 | a0001 | c0002 | t0001 | g0078 | AMR | PEL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02451 | hp1 | a0001 | c0001 | t0002 | g0175 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02451 | hp2 | a0001 | c0002 | t0002 | g0011 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02572 | hp1 | a0001 | c0002 | t0001 | g0086 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02572 | hp2 | a0001 | c0003 | t0006 | g0019 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0141 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0239 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02615 | hp1 | a0001 | c0001 | t0010 | g0193 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02615 | hp2 | a0001 | c0001 | t0002 | g0033 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02622 | hp1 | a0001 | c0001 | t0002 | g0173 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02622 | hp2 | a0001 | c0002 | t0004 | g0074 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02630 | hp1 | a0001 | c0004 | t0005 | g0092 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02630 | hp2 | a0001 | c0001 | t0011 | g0009 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02647 | hp1 | a0001 | c0003 | t0006 | g0200 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02647 | hp2 | a0001 | c0001 | t0009 | g0013 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02717 | hp1 | a0001 | c0001 | t0004 | g0203 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02717 | hp2 | a0001 | c0002 | t0003 | g0041 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02723 | hp1 | a0001 | c0001 | t0002 | g0178 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02723 | hp2 | a0001 | c0002 | t0002 | g0029 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02738 | hp2 | a0001 | c0002 | t0001 | g0034 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02818 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02818 | hp2 | a0001 | c0003 | t0006 | g0021 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02886 | hp1 | a0001 | c0004 | t0007 | g0192 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02886 | hp2 | a0001 | c0001 | t0002 | g0163 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02895 | hp1 | a0001 | c0001 | t0025 | g0096 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02895 | hp2 | a0002 | c0005 | t0009 | g0003 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02896 | hp1 | a0001 | c0002 | t0010 | g0233 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02896 | hp2 | a0001 | c0001 | t0003 | g0247 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02897 | hp1 | a0002 | c0005 | t0009 | g0004 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02897 | hp2 | a0001 | c0002 | t0010 | g0234 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02922 | hp1 | a0001 | c0002 | t0002 | g0030 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02922 | hp2 | a0001 | c0002 | t0011 | g0085 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02965 | hp1 | a0001 | c0001 | t0016 | g0248 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02965 | hp2 | a0001 | c0001 | t0003 | g0190 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02976 | hp1 | a0001 | c0002 | t0003 | g0020 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02976 | hp2 | a0001 | c0001 | t0027 | g0184 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0238 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0161 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03041 | hp1 | a0001 | c0001 | t0002 | g0185 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03041 | hp2 | a0001 | c0001 | t0003 | g0008 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03098 | hp1 | a0001 | c0002 | t0002 | g0087 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03098 | hp2 | a0001 | c0001 | t0004 | g0186 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03130 | hp1 | a0001 | c0002 | t0003 | g0230 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03130 | hp2 | a0001 | c0010 | t0007 | g0246 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03139 | hp1 | a0001 | c0003 | t0006 | g0243 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03139 | hp2 | a0001 | c0002 | t0002 | g0093 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03195 | hp1 | a0001 | c0001 | t0002 | g0181 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03195 | hp2 | a0001 | c0006 | t0007 | g0024 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03209 | hp1 | a0001 | c0001 | t0008 | g0091 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03209 | hp2 | a0001 | c0001 | t0002 | g0177 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03225 | hp1 | a0001 | c0002 | t0009 | g0012 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03225 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0240 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03453 | hp1 | a0001 | c0006 | t0007 | g0201 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03453 | hp2 | a0001 | c0011 | t0002 | g0089 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03486 | hp1 | a0001 | c0002 | t0023 | g0237 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03486 | hp2 | a0001 | c0001 | t0004 | g0187 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0125 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03490 | hp2 | a0001 | c0002 | t0001 | g0214 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03492 | hp1 | a0001 | c0002 | t0001 | g0212 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0166 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03516 | hp1 | a0001 | c0001 | t0002 | g0174 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03516 | hp2 | a0001 | c0002 | t0003 | g0202 | AFR | ESN | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03540 | hp1 | a0001 | c0002 | t0004 | g0006 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03540 | hp2 | a0001 | c0001 | t0002 | g0090 | AFR | GWD | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03579 | hp1 | a0001 | c0001 | t0002 | g0007 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0176 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03669 | hp1 | a0001 | c0002 | t0001 | g0218 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03669 | hp2 | a0001 | c0001 | t0001 | g0077 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03704 | hp1 | a0001 | c0002 | t0002 | g0069 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0158 | SAS | PJL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03927 | hp1 | a0001 | c0002 | t0001 | g0059 | SAS | BEB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0109 | SAS | BEB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0148 | SAS | BEB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0081 | SAS | BEB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG04204 | hp1 | a0001 | c0001 | t0008 | g0138 | SAS | STU | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG04204 | hp2 | a0001 | c0002 | t0001 | g0082 | SAS | STU | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG04228 | hp1 | a0001 | c0002 | t0001 | g0083 | SAS | STU | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0100 | SAS | STU | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | CHB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | CHB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18747 | hp1 | a0001 | c0002 | t0001 | g0213 | EAS | CHB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18747 | hp2 | a0001 | c0001 | t0002 | g0042 | EAS | CHB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18906 | hp1 | a0001 | c0002 | t0022 | g0062 | AFR | YRI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18906 | hp2 | a0001 | c0001 | t0002 | g0172 | AFR | YRI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18945 | hp2 | a0001 | c0002 | t0002 | g0038 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18948 | hp1 | a0001 | c0002 | t0001 | g0226 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18948 | hp2 | a0001 | c0002 | t0001 | g0073 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18952 | hp1 | a0001 | c0002 | t0001 | g0056 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18954 | hp1 | a0001 | c0002 | t0001 | g0064 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18957 | hp1 | a0001 | c0002 | t0001 | g0223 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18959 | hp1 | a0001 | c0002 | t0001 | g0221 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18959 | hp2 | a0001 | c0002 | t0002 | g0047 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18964 | hp1 | a0001 | c0002 | t0001 | g0147 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18964 | hp2 | a0001 | c0002 | t0001 | g0084 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18966 | hp1 | a0001 | c0002 | t0002 | g0211 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18967 | hp1 | a0001 | c0002 | t0001 | g0066 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18973 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18973 | hp2 | a0001 | c0002 | t0001 | g0049 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18977 | hp1 | a0001 | c0002 | t0001 | g0205 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18977 | hp2 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18983 | hp1 | a0001 | c0002 | t0020 | g0060 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18983 | hp2 | a0001 | c0001 | t0026 | g0117 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18990 | hp1 | a0001 | c0002 | t0001 | g0046 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18990 | hp2 | a0001 | c0002 | t0002 | g0208 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18993 | hp2 | a0001 | c0002 | t0001 | g0220 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18998 | hp1 | a0001 | c0002 | t0002 | g0207 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18998 | hp2 | a0001 | c0002 | t0001 | g0036 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19002 | hp1 | a0001 | c0001 | t0002 | g0142 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19002 | hp2 | a0001 | c0002 | t0001 | g0216 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19003 | hp1 | a0001 | c0002 | t0001 | g0044 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19004 | hp1 | a0001 | c0002 | t0001 | g0048 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19004 | hp2 | a0001 | c0002 | t0001 | g0225 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19005 | hp2 | a0001 | c0002 | t0001 | g0045 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19010 | hp2 | a0001 | c0002 | t0001 | g0206 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19011 | hp1 | a0001 | c0002 | t0002 | g0209 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19030 | hp1 | a0001 | c0001 | t0005 | g0015 | AFR | LWK | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19030 | hp2 | a0001 | c0002 | t0002 | g0196 | AFR | LWK | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19043 | hp1 | a0001 | c0001 | t0010 | g0183 | AFR | LWK | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19043 | hp2 | a0001 | c0002 | t0005 | g0016 | AFR | LWK | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19056 | hp1 | a0001 | c0002 | t0001 | g0222 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19056 | hp2 | a0001 | c0001 | t0002 | g0156 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19070 | hp1 | a0001 | c0002 | t0001 | g0236 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19074 | hp1 | a0001 | c0002 | t0001 | g0224 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19074 | hp2 | a0001 | c0002 | t0001 | g0068 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19081 | hp1 | a0001 | c0002 | t0002 | g0210 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19081 | hp2 | a0001 | c0002 | t0001 | g0055 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19088 | hp2 | a0001 | c0002 | t0001 | g0215 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19240 | hp1 | a0001 | c0002 | t0003 | g0025 | AFR | YRI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA19240 | hp2 | a0001 | c0001 | t0003 | g0182 | AFR | YRI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20129 | hp1 | a0001 | c0013 | t0015 | g0079 | AFR | ASW | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20129 | hp2 | a0001 | c0001 | t0024 | g0097 | AFR | ASW | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20805 | hp1 | a0001 | c0001 | t0008 | g0228 | EUR | TSI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20805 | hp2 | a0001 | c0002 | t0001 | g0217 | EUR | TSI | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0127 | SAS | GIH | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20905 | hp2 | a0001 | c0001 | t0008 | g0157 | SAS | GIH | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01123 | hp1 | a0001 | c0001 | t0002 | g0132 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | CLM | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02109 | hp1 | a0001 | c0002 | t0012 | g0026 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02109 | hp2 | a0001 | c0001 | t0002 | g0179 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG02486 | hp2 | a0001 | c0001 | t0005 | g0188 | AFR | ACB | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03471 | hp1 | a0001 | c0002 | t0001 | g0040 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG03471 | hp2 | a0001 | c0002 | t0002 | g0022 | AFR | MSL | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG06807 | hp1 | a0001 | c0002 | t0003 | g0031 | AFR | USA | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
HG06807 | hp2 | a0001 | c0001 | t0004 | g0180 | AFR | USA | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA18955 | hp2 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20300 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | USA | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
NA20300 | hp2 | a0001 | c0002 | t0005 | g0231 | AFR | USA | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0229 | REF | REF | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | SFXN5_chr2_72937036_73076712 | SFXN5 | chr2 | 72937036 | 73076712 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:73001554 | G | T | 1 | a0003 | 1 | HG00735.hp2 | missense_variant | MODERATE | c.382C>A | p.Gln128Lys | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/14 | 389/4016 | 382/1023 | 128/340 | chr2 | 73001554 | |||
chr2:73071659 | G | T | 1 | a0002 | 2 | HG02895.hp2 HG02897.hp1 |
missense_variant | MODERATE | c.47C>A | p.Ala16Asp | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/14 | 54/4016 | 47/1023 | 16/340 | chr2 | 73071659 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:72945085 | T | C | 5 | a0001c0003 a0001c0004 a0001c0006 others(2): Show |
14 | HG00735.hp1 HG01109.hp1 HG02055.hp2 others(11): Show |
synonymous_variant | LOW | c.960A>G | p.Gln320Gln | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 967/4016 | 960/1023 | 320/340 | chr2 | 72945085 | |||
chr2:72945088 | G | C | 2 | a0001c0003 a0001c0004 |
10 | HG00735.hp1 HG01109.hp1 HG02257.hp1 others(7): Show |
synonymous_variant | LOW | c.957C>G | p.Ser319Ser | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 964/4016 | 957/1023 | 319/340 | chr2 | 72945088 | |||
chr2:72961164 | C | T | 1 | a0001c0009 | 1 | HG01243.hp2 | synonymous_variant | LOW | c.912G>A | p.Pro304Pro | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/14 | 919/4016 | 912/1023 | 304/340 | chr2 | 72961164 | |||
chr2:72961245 | C | T | 1 | a0001c0008 | 1 | HG01981.hp1 | synonymous_variant | LOW | c.831G>A | p.Thr277Thr | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/14 | 838/4016 | 831/1023 | 277/340 | chr2 | 72961245 | |||
chr2:72971648 | G | A | 2 | a0001c0011 a0001c0012 |
2 | HG02055.hp2 HG03453.hp2 |
synonymous_variant | LOW | c.663C>T | p.Tyr221Tyr | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/14 | 670/4016 | 663/1023 | 221/340 | chr2 | 72971648 | |||
chr2:72998961 | G | A | 8 | a0001c0002 a0001c0003 a0001c0006 others(5): Show |
115 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(112): Show |
synonymous_variant | LOW | c.522C>T | p.Ala174Ala | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/14 | 529/4016 | 522/1023 | 174/340 | chr2 | 72998961 | |||
chr2:73000449 | T | G | 1 | a0001c0013 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.450A>C | p.Ala150Ala | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/14 | 457/4016 | 450/1023 | 150/340 | chr2 | 73000449 | |||
chr2:73001573 | G | A | 1 | a0001c0014 | 1 | HG02145.hp2 | synonymous_variant | LOW | c.363C>T | p.Val121Val | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/14 | 370/4016 | 363/1023 | 121/340 | chr2 | 73001573 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:72942121 | C | T | 1 | a0001c0001t0027 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2901G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2901 | chr2 | 72942121 | ||||||
chr2:72942365 | GT | G | 19 | a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(16): Show |
66 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(63): Show |
3_prime_UTR_variant | MODIFIER | c.*2656delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2656 | chr2 | 72942365 | ||||||
chr2:72942371 | G | A | 26 | a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(23): Show |
75 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*2651C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2651 | chr2 | 72942371 | ||||||
chr2:72942445 | G | A | 8 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(5): Show |
52 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(49): Show |
3_prime_UTR_variant | MODIFIER | c.*2577C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2577 | chr2 | 72942445 | ||||||
chr2:72942453 | C | A | 19 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(16): Show |
68 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(65): Show |
3_prime_UTR_variant | MODIFIER | c.*2569G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2569 | chr2 | 72942453 | ||||||
chr2:72942453 | C | G | 2 | a0001c0001t0008 a0001c0002t0008 |
5 | HG01261.hp2 HG03209.hp1 HG04204.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2569G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2569 | chr2 | 72942453 | ||||||
chr2:72942480 | C | G | 13 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(10): Show |
58 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(55): Show |
3_prime_UTR_variant | MODIFIER | c.*2542G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2542 | chr2 | 72942480 | ||||||
chr2:72942765 | C | T | 2 | a0001c0001t0014 a0001c0002t0014 |
2 | HG00738.hp2 HG01192.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2257G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2257 | chr2 | 72942765 | ||||||
chr2:72942856 | G | A | 1 | a0001c0002t0020 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2166C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2166 | chr2 | 72942856 | ||||||
chr2:72942915 | T | A | 3 | a0001c0001t0004 a0001c0002t0004 a0001c0009t0004 |
8 | HG01243.hp2 HG01884.hp1 HG02622.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2107A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2107 | chr2 | 72942915 | ||||||
chr2:72942931 | G | A | 24 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(21): Show |
36 | HG01243.hp1 HG01243.hp2 HG01361.hp2 others(33): Show |
3_prime_UTR_variant | MODIFIER | c.*2091C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2091 | chr2 | 72942931 | ||||||
chr2:72942933 | T | C | 1 | a0001c0002t0012 | 2 | HG01099.hp2 HG02109.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2089A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2089 | chr2 | 72942933 | ||||||
chr2:72942934 | G | A | 4 | a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 others(1): Show |
43 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*2088C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 2088 | chr2 | 72942934 | ||||||
chr2:72943038 | T | C | 1 | a0001c0001t0025 | 1 | HG02895.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1984A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1984 | chr2 | 72943038 | ||||||
chr2:72943238 | G | A | 1 | a0001c0001t0026 | 1 | NA18983.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1784C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1784 | chr2 | 72943238 | ||||||
chr2:72943248 | A | C | 2 | a0001c0001t0010 a0001c0002t0010 |
4 | HG02615.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1774T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1774 | chr2 | 72943248 | ||||||
chr2:72943601 | G | A | 4 | a0001c0001t0002 a0001c0001t0027 a0001c0002t0002 others(1): Show |
43 | HG00733.hp1 HG01123.hp1 HG01169.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*1421C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1421 | chr2 | 72943601 | ||||||
chr2:72943634 | G | C | 8 | a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 others(5): Show |
13 | HG01891.hp2 HG02257.hp1 HG02280.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1388C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1388 | chr2 | 72943634 | ||||||
chr2:72943932 | C | T | 2 | a0001c0001t0016 a0001c0002t0016 |
2 | HG01243.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1090G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1090 | chr2 | 72943932 | ||||||
chr2:72943952 | A | C | 3 | a0001c0001t0005 a0001c0002t0005 a0001c0004t0005 |
7 | HG02257.hp1 HG02280.hp2 HG02486.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1070T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 1070 | chr2 | 72943952 | ||||||
chr2:72944127 | A | G | 1 | a0001c0001t0019 | 1 | HG00140.hp1 | 3_prime_UTR_variant | MODIFIER | c.*895T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 895 | chr2 | 72944127 | ||||||
chr2:72944314 | T | C | 2 | a0001c0001t0016 a0001c0002t0016 |
2 | HG01243.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*708A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 708 | chr2 | 72944314 | ||||||
chr2:72944402 | T | G | 2 | a0001c0001t0010 a0001c0002t0010 |
4 | HG02615.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*620A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 620 | chr2 | 72944402 | ||||||
chr2:72944422 | C | T | 1 | a0001c0002t0018 | 1 | HG00280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*600G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 600 | chr2 | 72944422 | ||||||
chr2:72944880 | A | C | 6 | a0001c0003t0006 a0001c0003t0017 a0001c0004t0007 others(3): Show |
12 | HG00735.hp1 HG01109.hp1 HG02055.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*142T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 142 | chr2 | 72944880 | ||||||
chr2:72944909 | C | T | 1 | a0001c0002t0013 | 2 | HG00741.hp1 HG01256.hp2 |
3_prime_UTR_variant | MODIFIER | c.*113G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 113 | chr2 | 72944909 | ||||||
chr2:72944962 | C | T | 6 | a0001c0001t0003 a0001c0001t0011 a0001c0002t0003 others(3): Show |
21 | HG00323.hp1 HG01099.hp2 HG01884.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*60G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 60 | chr2 | 72944962 | ||||||
chr2:72944983 | C | T | 1 | a0001c0003t0017 | 1 | HG02280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*39G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 14/14 | 39 | chr2 | 72944983 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:72945213 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.946-114C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945213 | |||||||
chr2:72945251 | G | A | 1 | a0001c0001t0024g0097 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.946-152C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945251 | |||||||
chr2:72945283 | G | A | 1 | a0001c0001t0002g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.946-184C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945283 | |||||||
chr2:72945316 | A | G | 129 | a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 others(126): Show |
130 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.946-217T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945316 | |||||||
chr2:72945626 | C | T | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.946-527G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945626 | |||||||
chr2:72945645 | G | A | 2 | a0001c0002t0012g0026 a0001c0002t0012g0094 |
2 | HG01099.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.946-546C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945645 | |||||||
chr2:72945696 | C | G | 4 | a0001c0001t0008g0091 a0001c0001t0016g0248 a0001c0002t0008g0028 others(1): Show |
4 | HG01243.hp1 HG01261.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.946-597G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945696 | |||||||
chr2:72945697 | G | A | 2 | a0001c0001t0001g0127 a0001c0002t0001g0082 |
2 | HG04204.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.946-598C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945697 | |||||||
chr2:72945843 | C | T | 45 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(42): Show |
46 | HG00733.hp1 HG01123.hp1 HG01361.hp1 others(43): Show |
intron_variant | MODIFIER | c.946-744G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945843 | |||||||
chr2:72945881 | G | A | 2 | a0001c0001t0008g0091 a0001c0002t0008g0028 |
2 | HG01261.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.946-782C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72945881 | |||||||
chr2:72946025 | C | T | 1 | a0001c0002t0001g0068 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.946-926G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946025 | |||||||
chr2:72946135 | ACTCCGGG others(5): Show |
A | 1 | a0001c0002t0001g0059 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.946-1048_946-1037d others(14): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946135 | |||||||
chr2:72946353 | A | G | 2 | a0001c0002t0001g0051 a0001c0002t0001g0217 |
2 | HG00733.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.946-1254T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946353 | |||||||
chr2:72946421 | C | G | 2 | a0001c0001t0016g0248 a0001c0002t0016g0235 |
2 | HG01243.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.946-1322G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946421 | |||||||
chr2:72946457 | T | C | 1 | a0001c0002t0001g0221 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.946-1358A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946457 | |||||||
chr2:72946459 | G | T | 1 | a0001c0002t0001g0221 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.946-1360C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946459 | |||||||
chr2:72946679 | C | T | 1 | a0001c0002t0001g0052 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.946-1580G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946679 | |||||||
chr2:72946681 | C | T | 1 | a0001c0001t0005g0188 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.946-1582G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946681 | |||||||
chr2:72946747 | C | A | 1 | a0001c0001t0025g0096 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.946-1648G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946747 | |||||||
chr2:72946826 | T | C | 2 | a0001c0002t0001g0049 a0001c0002t0001g0236 |
2 | NA18973.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.946-1727A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946826 | |||||||
chr2:72946878 | A | G | 2 | a0001c0001t0025g0096 a0001c0002t0022g0062 |
2 | HG02895.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.946-1779T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946878 | |||||||
chr2:72946941 | C | T | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.946-1842G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946941 | |||||||
chr2:72946999 | C | T | 1 | a0001c0001t0001g0118 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.946-1900G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72946999 | |||||||
chr2:72947056 | C | T | 1 | a0001c0002t0003g0202 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.946-1957G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947056 | |||||||
chr2:72947057 | G | A | 1 | a0001c0001t0002g0156 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.946-1958C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947057 | |||||||
chr2:72947184 | C | T | 1 | a0001c0002t0009g0012 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.946-2085G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947184 | |||||||
chr2:72947199 | C | T | 1 | a0001c0002t0001g0046 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.946-2100G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947199 | |||||||
chr2:72947200 | G | A | 3 | a0001c0001t0015g0194 a0001c0002t0003g0020 a0001c0002t0003g0230 |
3 | HG01891.hp2 HG02976.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.946-2101C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947200 | |||||||
chr2:72947312 | C | T | 2 | a0001c0002t0002g0011 a0001c0002t0002g0196 |
2 | HG02451.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.946-2213G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947312 | |||||||
chr2:72947551 | C | G | 1 | a0001c0002t0022g0062 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.946-2452G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947551 | |||||||
chr2:72947593 | C | T | 1 | a0001c0002t0002g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.946-2494G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947593 | |||||||
chr2:72947625 | T | C | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.946-2526A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947625 | |||||||
chr2:72947714 | A | AC | 36 | a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0103 others(33): Show |
36 | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(33): Show |
intron_variant | MODIFIER | c.946-2616dupG | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947714 | |||||||
chr2:72947719 | G | A | 56 | a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0102 others(53): Show |
56 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(53): Show |
intron_variant | MODIFIER | c.946-2620C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947719 | |||||||
chr2:72947774 | C | T | 6 | a0001c0001t0001g0144 a0001c0002t0001g0039 a0001c0002t0002g0208 others(3): Show |
6 | NA18966.hp1 NA18977.hp2 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.946-2675G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72947774 | |||||||
chr2:72948361 | G | A | 4 | a0001c0001t0002g0043 a0001c0002t0001g0037 a0001c0002t0002g0038 others(1): Show |
4 | HG00544.hp1 HG02080.hp2 NA18945.hp2 others(1): Show |
intron_variant | MODIFIER | c.946-3262C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72948361 | |||||||
chr2:72948560 | T | C | 2 | a0001c0001t0004g0186 a0001c0001t0004g0187 |
2 | HG03098.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.946-3461A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72948560 | |||||||
chr2:72948591 | ACCACGGC others(6): Show |
A | 1 | a0001c0002t0001g0226 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.946-3505_946-3493d others(15): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72948591 | |||||||
chr2:72948974 | A | G | 1 | a0001c0001t0004g0203 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.946-3875T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72948974 | |||||||
chr2:72949102 | G | C | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.946-4003C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949102 | |||||||
chr2:72949141 | C | G | 25 | a0001c0001t0002g0132 a0001c0001t0003g0191 a0001c0001t0004g0186 others(22): Show |
25 | HG00735.hp1 HG01109.hp1 HG01123.hp1 others(22): Show |
intron_variant | MODIFIER | c.946-4042G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949141 | |||||||
chr2:72949142 | T | G | 26 | a0001c0001t0001g0176 a0001c0001t0002g0132 a0001c0001t0003g0191 others(23): Show |
26 | HG00735.hp1 HG01109.hp1 HG01123.hp1 others(23): Show |
intron_variant | MODIFIER | c.946-4043A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949142 | |||||||
chr2:72949257 | A | G | 1 | a0001c0002t0001g0083 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.946-4158T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949257 | |||||||
chr2:72949294 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.946-4195A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949294 | |||||||
chr2:72949733 | C | T | 1 | a0001c0006t0007g0201 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.946-4634G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949733 | |||||||
chr2:72949812 | C | T | 22 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0090 others(19): Show |
23 | HG00733.hp1 HG01884.hp2 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.946-4713G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949812 | |||||||
chr2:72949904 | C | T | 5 | a0001c0001t0003g0191 a0001c0001t0010g0183 a0001c0002t0001g0040 others(2): Show |
5 | HG02258.hp1 HG02572.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.946-4805G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949904 | |||||||
chr2:72949966 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.946-4867C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72949966 | |||||||
chr2:72950056 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.946-4957G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950056 | |||||||
chr2:72950150 | C | T | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.946-5051G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950150 | |||||||
chr2:72950164 | G | C | 1 | a0001c0001t0001g0109 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.946-5065C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950164 | |||||||
chr2:72950350 | T | C | 1 | a0001c0002t0002g0032 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.946-5251A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950350 | |||||||
chr2:72950745 | C | A | 1 | a0001c0003t0006g0021 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.946-5646G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950745 | |||||||
chr2:72950875 | G | A | 1 | a0001c0001t0001g0063 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.946-5776C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72950875 | |||||||
chr2:72951116 | T | C | 52 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(49): Show |
53 | HG00733.hp1 HG00735.hp1 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.946-6017A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951116 | |||||||
chr2:72951136 | G | A | 6 | a0001c0001t0003g0247 a0001c0001t0005g0015 a0001c0002t0002g0032 others(3): Show |
6 | HG01243.hp2 HG01261.hp2 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.946-6037C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951136 | |||||||
chr2:72951181 | C | T | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.946-6082G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951181 | |||||||
chr2:72951193 | G | A | 1 | a0001c0001t0001g0240 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.946-6094C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951193 | |||||||
chr2:72951277 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.946-6178G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951277 | |||||||
chr2:72951351 | C | A | 26 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0090 others(23): Show |
27 | HG00733.hp1 HG01884.hp2 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.946-6252G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951351 | |||||||
chr2:72951401 | A | T | 2 | a0001c0001t0001g0102 a0001c0001t0001g0143 |
2 | NA18954.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.946-6302T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72951401 | |||||||
chr2:72952015 | C | A | 24 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0090 others(21): Show |
25 | HG00733.hp1 HG01884.hp2 HG02109.hp2 others(22): Show |
intron_variant | MODIFIER | c.946-6916G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952015 | |||||||
chr2:72952132 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0011g0085 |
3 | HG02896.hp1 HG02897.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.946-7033A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952132 | |||||||
chr2:72952190 | C | T | 1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.946-7091G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952190 | |||||||
chr2:72952307 | G | C | 1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.946-7208C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952307 | |||||||
chr2:72952453 | C | T | 1 | a0001c0001t0001g0105 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.946-7354G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952453 | |||||||
chr2:72952474 | A | C | 1 | a0001c0001t0003g0247 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.946-7375T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952474 | |||||||
chr2:72952607 | C | T | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.946-7508G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952607 | |||||||
chr2:72952861 | A | G | 82 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0007 others(79): Show |
83 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(80): Show |
intron_variant | MODIFIER | c.946-7762T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72952861 | |||||||
chr2:72953117 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.945+8014C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72953117 | |||||||
chr2:72953249 | G | T | 1 | a0001c0002t0001g0066 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.945+7882C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72953249 | |||||||
chr2:72953686 | T | A | 33 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0090 others(30): Show |
34 | HG00733.hp1 HG00735.hp1 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.945+7445A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72953686 | |||||||
chr2:72953804 | C | A | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+7327G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72953804 | |||||||
chr2:72953874 | T | C | 1 | a0001c0002t0001g0040 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.945+7257A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72953874 | |||||||
chr2:72954100 | C | T | 1 | a0001c0002t0009g0012 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.945+7031G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954100 | |||||||
chr2:72954275 | G | A | 2 | a0001c0002t0002g0030 a0001c0002t0003g0031 |
2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.945+6856C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954275 | |||||||
chr2:72954375 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+6756G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954375 | |||||||
chr2:72954510 | G | A | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+6621C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954510 | |||||||
chr2:72954530 | G | C | 1 | a0001c0001t0001g0107 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.945+6601C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954530 | |||||||
chr2:72954531 | C | T | 1 | a0001c0001t0001g0107 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.945+6600G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954531 | |||||||
chr2:72954550 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+6581G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954550 | |||||||
chr2:72954574 | C | T | 2 | a0001c0001t0001g0102 a0001c0001t0001g0143 |
2 | NA18954.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.945+6557G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954574 | |||||||
chr2:72954688 | C | T | 4 | a0001c0001t0001g0168 a0001c0001t0001g0232 a0001c0002t0001g0213 others(1): Show |
4 | HG02165.hp2 NA18747.hp1 NA18952.hp2 others(1): Show |
intron_variant | MODIFIER | c.945+6443G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72954688 | |||||||
chr2:72955039 | C | T | 1 | a0001c0001t0001g0134 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.945+6092G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955039 | |||||||
chr2:72955066 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.945+6065G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955066 | |||||||
chr2:72955089 | T | A | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.945+6042A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955089 | |||||||
chr2:72955267 | GGCTC | G | 80 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0033 others(77): Show |
81 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(78): Show |
intron_variant | MODIFIER | c.945+5860_945+5863d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955267 | |||||||
chr2:72955281 | C | CCCG | 3 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 |
3 | HG02602.hp2 HG03017.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.945+5847_945+5849d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955281 | |||||||
chr2:72955419 | G | A | 1 | a0001c0002t0001g0167 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.945+5712C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955419 | |||||||
chr2:72955840 | G | C | 1 | a0001c0001t0002g0156 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.945+5291C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72955840 | |||||||
chr2:72956006 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+5125G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956006 | |||||||
chr2:72956247 | A | G | 1 | a0001c0002t0002g0032 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.945+4884T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956247 | |||||||
chr2:72956265 | C | T | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.945+4866G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956265 | |||||||
chr2:72956663 | A | G | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.945+4468T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956663 | |||||||
chr2:72956773 | G | A | 5 | a0001c0001t0005g0242 a0001c0001t0008g0091 a0001c0001t0010g0193 others(2): Show |
5 | HG02145.hp2 HG02280.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.945+4358C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956773 | |||||||
chr2:72956857 | T | C | 1 | a0001c0002t0001g0218 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.945+4274A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956857 | |||||||
chr2:72956868 | T | C | 42 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0014 others(39): Show |
43 | HG00733.hp1 HG00735.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.945+4263A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72956868 | |||||||
chr2:72957005 | T | C | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.945+4126A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957005 | |||||||
chr2:72957060 | T | C | 1 | a0001c0002t0001g0220 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.945+4071A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957060 | |||||||
chr2:72957450 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0164 |
2 | NA19011.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.945+3681G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957450 | |||||||
chr2:72957497 | G | A | 1 | a0001c0006t0007g0201 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.945+3634C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957497 | |||||||
chr2:72957587 | G | T | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.945+3544C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957587 | |||||||
chr2:72957728 | C | T | 1 | a0001c0002t0001g0225 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.945+3403G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957728 | |||||||
chr2:72957850 | G | A | 14 | a0001c0001t0002g0033 a0001c0001t0004g0180 a0001c0001t0004g0195 others(11): Show |
14 | HG01243.hp1 HG01243.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.945+3281C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72957850 | |||||||
chr2:72958132 | G | C | 65 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0007 others(62): Show |
66 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(63): Show |
intron_variant | MODIFIER | c.945+2999C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958132 | |||||||
chr2:72958146 | T | A | 4 | a0001c0001t0010g0193 a0001c0002t0003g0020 a0001c0002t0003g0230 others(1): Show |
4 | HG02615.hp1 HG02976.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.945+2985A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958146 | |||||||
chr2:72958365 | G | A | 1 | a0001c0002t0001g0045 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.945+2766C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958365 | |||||||
chr2:72958623 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.945+2508C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958623 | |||||||
chr2:72958649 | G | A | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+2482C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958649 | |||||||
chr2:72958679 | T | C | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.945+2452A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958679 | |||||||
chr2:72958723 | A | C | 68 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0007 others(65): Show |
69 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(66): Show |
intron_variant | MODIFIER | c.945+2408T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958723 | |||||||
chr2:72958959 | A | G | 8 | a0001c0002t0001g0073 a0001c0002t0001g0205 a0001c0002t0001g0221 others(5): Show |
8 | NA18948.hp1 NA18948.hp2 NA18957.hp1 others(5): Show |
intron_variant | MODIFIER | c.945+2172T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72958959 | |||||||
chr2:72959064 | T | C | 3 | a0001c0001t0003g0008 a0001c0001t0003g0128 a0001c0006t0007g0024 |
3 | HG02257.hp2 HG03041.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.945+2067A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959064 | |||||||
chr2:72959231 | T | C | 38 | a0001c0001t0001g0176 a0001c0001t0002g0007 a0001c0001t0002g0033 others(35): Show |
38 | HG00735.hp1 HG01109.hp1 HG01123.hp1 others(35): Show |
intron_variant | MODIFIER | c.945+1900A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959231 | |||||||
chr2:72959369 | G | A | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.945+1762C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959369 | |||||||
chr2:72959375 | C | T | 2 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | HG00544.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.945+1756G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959375 | |||||||
chr2:72959668 | C | T | 24 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0090 others(21): Show |
25 | HG00733.hp1 HG01261.hp2 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.945+1463G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959668 | |||||||
chr2:72959789 | C | G | 1 | a0001c0002t0003g0202 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.945+1342G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959789 | |||||||
chr2:72959869 | C | T | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.945+1262G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72959869 | |||||||
chr2:72960034 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.945+1097C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960034 | |||||||
chr2:72960194 | C | A | 2 | a0001c0001t0001g0131 a0001c0001t0001g0166 |
2 | HG01081.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.945+937G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960194 | |||||||
chr2:72960229 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.945+902G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960229 | |||||||
chr2:72960274 | G | A | 1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.945+857C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960274 | |||||||
chr2:72960325 | G | A | 1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.945+806C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960325 | |||||||
chr2:72960389 | C | T | 14 | a0001c0001t0002g0033 a0001c0001t0004g0180 a0001c0001t0004g0195 others(11): Show |
14 | HG01243.hp1 HG01243.hp2 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.945+742G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960389 | |||||||
chr2:72960487 | C | A | 2 | a0001c0002t0022g0062 a0001c0006t0007g0201 |
2 | HG03453.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.945+644G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960487 | |||||||
chr2:72960489 | C | T | 5 | a0001c0001t0014g0245 a0001c0001t0016g0248 a0001c0004t0005g0244 others(2): Show |
5 | HG00738.hp2 HG02055.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.945+642G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960489 | |||||||
chr2:72960584 | C | G | 1 | a0001c0001t0001g0063 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.945+547G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960584 | |||||||
chr2:72960968 | G | A | 1 | a0001c0008t0001g0113 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.945+163C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72960968 | |||||||
chr2:72961050 | C | T | 2 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | HG00544.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.945+81G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72961050 | |||||||
chr2:72961092 | CCCCTG | C | 63 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(60): Show |
64 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(61): Show |
intron_variant | MODIFIER | c.945+34_945+38delCA others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 13/13 | chr2 | 72961092 | |||||||
chr2:72961293 | G | C | 58 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(55): Show |
59 | HG00733.hp1 HG00735.hp1 HG01109.hp1 others(56): Show |
intron_variant | MODIFIER | c.828-45C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961293 | |||||||
chr2:72961340 | C | G | 2 | a0001c0001t0001g0077 a0001c0001t0001g0141 |
2 | HG02602.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.828-92G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961340 | |||||||
chr2:72961389 | T | C | 2 | a0001c0001t0005g0242 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.828-141A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961389 | |||||||
chr2:72961401 | G | C | 1 | a0001c0002t0003g0202 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.828-153C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961401 | |||||||
chr2:72961457 | C | G | 3 | a0001c0002t0003g0230 a0001c0002t0004g0006 a0001c0002t0005g0231 |
3 | HG03130.hp1 HG03540.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.828-209G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961457 | |||||||
chr2:72961539 | C | G | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.828-291G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961539 | |||||||
chr2:72961621 | T | C | 41 | a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0002g0002 others(38): Show |
42 | HG00642.hp2 HG00733.hp1 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.828-373A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961621 | |||||||
chr2:72961625 | G | A | 65 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(62): Show |
66 | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(63): Show |
intron_variant | MODIFIER | c.828-377C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961625 | |||||||
chr2:72961674 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.828-426G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961674 | |||||||
chr2:72961996 | G | A | 1 | a0001c0002t0022g0062 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.828-748C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961996 | |||||||
chr2:72961997 | G | A | 3 | a0001c0001t0009g0013 a0002c0005t0009g0003 a0002c0005t0009g0004 |
3 | HG02647.hp2 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.828-749C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72961997 | |||||||
chr2:72962560 | A | T | 1 | a0001c0001t0002g0014 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.828-1312T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72962560 | |||||||
chr2:72962831 | A | G | 2 | a0001c0001t0001g0146 a0001c0002t0014g0198 |
2 | HG01192.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.828-1583T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72962831 | |||||||
chr2:72962999 | T | C | 1 | a0001c0001t0001g0111 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.828-1751A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72962999 | |||||||
chr2:72963011 | C | T | 1 | a0001c0001t0001g0081 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.828-1763G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963011 | |||||||
chr2:72963060 | A | C | 14 | a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0011g0009 others(11): Show |
14 | HG00735.hp1 HG01109.hp1 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.828-1812T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963060 | |||||||
chr2:72963233 | C | T | 70 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(67): Show |
71 | HG00544.hp2 HG00597.hp1 HG00642.hp1 others(68): Show |
intron_variant | MODIFIER | c.828-1985G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963233 | |||||||
chr2:72963343 | C | A | 11 | a0001c0001t0002g0007 a0001c0001t0003g0191 a0001c0001t0010g0183 others(8): Show |
11 | HG01891.hp1 HG02258.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.828-2095G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963343 | |||||||
chr2:72963484 | C | T | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.828-2236G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963484 | |||||||
chr2:72963568 | A | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.828-2320T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963568 | |||||||
chr2:72963607 | G | A | 1 | a0001c0004t0007g0192 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.828-2359C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963607 | |||||||
chr2:72963674 | G | A | 1 | a0001c0001t0003g0241 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.828-2426C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963674 | |||||||
chr2:72963699 | G | A | 1 | a0001c0001t0002g0185 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.828-2451C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963699 | |||||||
chr2:72963725 | C | G | 1 | a0001c0001t0001g0149 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.828-2477G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963725 | |||||||
chr2:72963863 | AG | A | 5 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0011g0085 others(2): Show |
5 | HG01243.hp1 HG01243.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.828-2616delC | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963863 | |||||||
chr2:72963891 | T | C | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.828-2643A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963891 | |||||||
chr2:72963984 | C | T | 3 | a0001c0002t0001g0035 a0001c0002t0001g0055 a0001c0002t0001g0084 |
3 | HG02071.hp1 NA18964.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.828-2736G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72963984 | |||||||
chr2:72964046 | C | T | 1 | a0001c0002t0001g0151 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.828-2798G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964046 | |||||||
chr2:72964083 | C | G | 72 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(69): Show |
73 | HG00544.hp2 HG00597.hp1 HG00642.hp1 others(70): Show |
intron_variant | MODIFIER | c.828-2835G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964083 | |||||||
chr2:72964174 | C | T | 1 | a0001c0002t0001g0078 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.828-2926G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964174 | |||||||
chr2:72964303 | TG | T | 8 | a0001c0001t0003g0191 a0001c0001t0010g0183 a0001c0002t0001g0040 others(5): Show |
8 | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.828-3056delC | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964303 | |||||||
chr2:72964373 | A | G | 120 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(117): Show |
121 | HG00544.hp2 HG00597.hp1 HG00642.hp1 others(118): Show |
intron_variant | MODIFIER | c.828-3125T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964373 | |||||||
chr2:72964406 | A | G | 6 | a0001c0001t0005g0242 a0001c0001t0010g0193 a0001c0002t0003g0020 others(3): Show |
6 | HG02145.hp2 HG02280.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.828-3158T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964406 | |||||||
chr2:72964571 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.828-3323C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964571 | |||||||
chr2:72964635 | A | C | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.828-3387T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964635 | |||||||
chr2:72964834 | G | A | 8 | a0001c0001t0004g0180 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01261.hp2 HG01361.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.828-3586C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964834 | |||||||
chr2:72964961 | G | A | 2 | a0001c0001t0008g0091 a0001c0003t0006g0243 |
2 | HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.827+3487C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72964961 | |||||||
chr2:72965056 | G | A | 1 | a0001c0006t0007g0201 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.827+3392C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965056 | |||||||
chr2:72965199 | C | A | 1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.827+3249G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965199 | |||||||
chr2:72965222 | C | T | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.827+3226G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965222 | |||||||
chr2:72965234 | C | T | 1 | a0001c0002t0001g0061 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.827+3214G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965234 | |||||||
chr2:72965299 | C | T | 2 | a0001c0001t0010g0193 a0001c0002t0003g0020 |
2 | HG02615.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.827+3149G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965299 | |||||||
chr2:72965595 | G | A | 2 | a0001c0001t0004g0203 a0001c0002t0004g0074 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.827+2853C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965595 | |||||||
chr2:72965736 | G | A | 2 | a0001c0002t0010g0233 a0001c0002t0010g0234 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.827+2712C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72965736 | |||||||
chr2:72966196 | G | C | 1 | a0001c0002t0008g0028 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.827+2252C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966196 | |||||||
chr2:72966306 | C | A | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.827+2142G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966306 | |||||||
chr2:72966307 | A | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.827+2141T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966307 | |||||||
chr2:72966311 | T | G | 7 | a0001c0001t0002g0007 a0001c0001t0011g0009 a0001c0001t0011g0171 others(4): Show |
7 | HG01891.hp1 HG01891.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.827+2137A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966311 | |||||||
chr2:72966443 | C | T | 1 | a0001c0002t0001g0056 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.827+2005G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966443 | |||||||
chr2:72966445 | T | C | 1 | a0001c0002t0003g0041 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.827+2003A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966445 | |||||||
chr2:72966496 | T | G | 1 | a0001c0002t0002g0032 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.827+1952A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966496 | |||||||
chr2:72966516 | G | A | 68 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0115 others(65): Show |
69 | HG00544.hp2 HG00597.hp1 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.827+1932C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966516 | |||||||
chr2:72966577 | C | T | 2 | a0001c0001t0001g0150 a0001c0001t0004g0203 |
2 | HG02717.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.827+1871G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966577 | |||||||
chr2:72966720 | C | T | 1 | a0001c0002t0001g0071 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.827+1728G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966720 | |||||||
chr2:72966761 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.827+1687C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966761 | |||||||
chr2:72966879 | C | T | 5 | a0001c0001t0002g0181 a0001c0002t0002g0208 a0001c0002t0002g0209 others(2): Show |
5 | HG03195.hp1 NA18966.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.827+1569G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966879 | |||||||
chr2:72966886 | T | C | 1 | a0001c0001t0024g0097 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.827+1562A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72966886 | |||||||
chr2:72967032 | G | A | 5 | a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 others(2): Show |
5 | HG02451.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.827+1416C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967032 | |||||||
chr2:72967036 | A | G | 1 | a0001c0001t0003g0191 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.827+1412T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967036 | |||||||
chr2:72967094 | C | T | 1 | a0001c0001t0003g0104 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.827+1354G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967094 | |||||||
chr2:72967112 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.827+1336G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967112 | |||||||
chr2:72967139 | G | A | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.827+1309C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967139 | |||||||
chr2:72967383 | C | T | 1 | a0001c0001t0024g0097 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.827+1065G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967383 | |||||||
chr2:72967460 | C | G | 1 | a0001c0001t0001g0115 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.827+988G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967460 | |||||||
chr2:72967470 | G | A | 125 | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0098 others(122): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.827+978C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967470 | |||||||
chr2:72967518 | A | G | 1 | a0001c0001t0002g0156 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.827+930T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967518 | |||||||
chr2:72967535 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.827+913C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967535 | |||||||
chr2:72967558 | C | T | 29 | a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0161 others(26): Show |
29 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(26): Show |
intron_variant | MODIFIER | c.827+890G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967558 | |||||||
chr2:72967606 | C | T | 1 | a0001c0001t0003g0008 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.827+842G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967606 | |||||||
chr2:72967681 | T | A | 15 | a0001c0001t0004g0180 a0001c0001t0004g0195 a0001c0001t0008g0091 others(12): Show |
15 | HG01243.hp1 HG01361.hp2 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.827+767A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967681 | |||||||
chr2:72967750 | G | T | 1 | a0001c0002t0001g0219 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.827+698C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967750 | |||||||
chr2:72967751 | G | C | 1 | a0001c0002t0001g0219 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.827+697C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967751 | |||||||
chr2:72967752 | A | C | 1 | a0001c0002t0001g0219 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.827+696T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967752 | |||||||
chr2:72967797 | G | A | 3 | a0001c0003t0006g0021 a0001c0003t0006g0200 a0001c0004t0005g0244 |
3 | HG02257.hp1 HG02647.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.827+651C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72967797 | |||||||
chr2:72968122 | A | AAC | 43 | a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0099 others(40): Show |
43 | HG00099.hp2 HG00741.hp2 HG01123.hp1 others(40): Show |
intron_variant | MODIFIER | c.827+324_827+325dup others(2): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | A | AACAC | 25 | a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0115 others(22): Show |
25 | HG00738.hp2 HG01099.hp1 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.827+322_827+325dup others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | A | AACACAC | 4 | a0001c0001t0001g0111 a0001c0001t0001g0149 a0001c0001t0010g0193 others(1): Show |
4 | HG01192.hp2 HG02615.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.827+320_827+325dup others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | A | AACACACA others(3): Show |
1 | a0001c0001t0001g0081 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.827+316_827+325dup others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AAC | A | 36 | a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0129 others(33): Show |
36 | HG00438.hp2 HG00544.hp2 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.827+324_827+325del others(2): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AACAC | A | 60 | a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0098 others(57): Show |
61 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(58): Show |
intron_variant | MODIFIER | c.827+322_827+325del others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AACACAC | A | 12 | a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0154 others(9): Show |
12 | HG00597.hp1 HG01109.hp2 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.827+320_827+325del others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AACACACA others(1): Show |
A | 7 | a0001c0001t0001g0114 a0001c0001t0005g0015 a0001c0002t0001g0073 others(4): Show |
7 | HG00140.hp2 HG02071.hp2 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.827+318_827+325del others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AACACACA others(3): Show |
A | 3 | a0001c0002t0001g0082 a0001c0002t0011g0085 a0001c0002t0023g0237 |
3 | HG02922.hp2 HG03486.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.827+316_827+325del others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968122 | AACACACA others(11): Show |
A | 2 | a0001c0002t0013g0075 a0001c0002t0013g0076 |
2 | HG00741.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.827+308_827+325del others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968122 | |||||||
chr2:72968201 | G | A | 1 | a0001c0002t0001g0068 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.827+247C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968201 | |||||||
chr2:72968364 | T | C | 1 | a0001c0001t0001g0131 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.827+84A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968364 | |||||||
chr2:72968383 | G | A | 3 | a0001c0001t0001g0150 a0001c0002t0016g0235 a0001c0013t0015g0079 |
3 | HG01243.hp1 HG02738.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.827+65C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 12/13 | chr2 | 72968383 | |||||||
chr2:72968576 | G | A | 1 | a0001c0002t0001g0213 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.742-43C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72968576 | |||||||
chr2:72968708 | TTTCC | T | 175 | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0105 others(172): Show |
176 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(173): Show |
intron_variant | MODIFIER | c.742-179_742-176del others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72968708 | |||||||
chr2:72968753 | T | C | 1 | a0001c0001t0001g0141 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.742-220A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72968753 | |||||||
chr2:72968779 | T | C | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.742-246A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72968779 | |||||||
chr2:72969054 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.742-521G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969054 | |||||||
chr2:72969166 | C | T | 1 | a0001c0001t0001g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.742-633G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969166 | |||||||
chr2:72969631 | G | C | 1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.742-1098C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969631 | |||||||
chr2:72969697 | C | CT | 24 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0003g0247 others(21): Show |
24 | HG00438.hp1 HG01081.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.742-1165dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969697 | |||||||
chr2:72969697 | C | CTT | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.742-1166_742-1165d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969697 | |||||||
chr2:72969697 | CT | C | 29 | a0001c0001t0001g0080 a0001c0001t0001g0152 a0001c0001t0001g0176 others(26): Show |
29 | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(26): Show |
intron_variant | MODIFIER | c.742-1165delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969697 | |||||||
chr2:72969746 | CT | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.742-1214delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969746 | |||||||
chr2:72969882 | A | C | 1 | a0001c0001t0001g0111 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.742-1349T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969882 | |||||||
chr2:72969943 | G | A | 2 | a0001c0002t0011g0085 a0001c0002t0023g0237 |
2 | HG02922.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.742-1410C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72969943 | |||||||
chr2:72970169 | G | A | 1 | a0001c0001t0025g0096 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.741+1401C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970169 | |||||||
chr2:72970564 | T | C | 178 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0095 others(175): Show |
179 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.741+1006A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970564 | |||||||
chr2:72970606 | CA | C | 5 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 others(2): Show |
5 | HG02647.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.741+963delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970606 | |||||||
chr2:72970610 | G | A | 21 | a0001c0002t0001g0052 a0001c0002t0001g0204 a0001c0002t0001g0206 others(18): Show |
21 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(18): Show |
intron_variant | MODIFIER | c.741+960C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970610 | |||||||
chr2:72970693 | G | GT | 9 | a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0155 others(6): Show |
9 | HG00544.hp2 HG00733.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.741+876dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970693 | |||||||
chr2:72970778 | C | A | 3 | a0001c0001t0002g0179 a0001c0001t0011g0171 a0001c0002t0001g0059 |
3 | HG01891.hp1 HG02109.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.741+792G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970778 | |||||||
chr2:72970783 | G | A | 64 | a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0105 others(61): Show |
64 | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(61): Show |
intron_variant | MODIFIER | c.741+787C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970783 | |||||||
chr2:72970963 | C | A | 1 | a0001c0002t0001g0067 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.741+607G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72970963 | |||||||
chr2:72971193 | C | T | 10 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(7): Show |
10 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.741+377G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 11/13 | chr2 | 72971193 | |||||||
chr2:72971788 | G | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.626-103C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72971788 | |||||||
chr2:72972053 | C | A | 2 | a0001c0002t0011g0085 a0001c0002t0023g0237 |
2 | HG02922.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.626-368G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972053 | |||||||
chr2:72972490 | C | A | 121 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0095 others(118): Show |
122 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.626-805G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972490 | |||||||
chr2:72972572 | C | A | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.626-887G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972572 | |||||||
chr2:72972643 | T | C | 1 | a0001c0002t0001g0216 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.626-958A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972643 | |||||||
chr2:72972747 | C | A | 3 | a0001c0001t0001g0227 a0001c0002t0002g0029 a0001c0002t0008g0028 |
3 | HG01261.hp2 HG02145.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.626-1062G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972747 | |||||||
chr2:72972747 | C | T | 27 | a0001c0001t0001g0080 a0001c0001t0001g0176 a0001c0001t0002g0002 others(24): Show |
28 | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(25): Show |
intron_variant | MODIFIER | c.626-1062G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972747 | |||||||
chr2:72972838 | G | A | 1 | a0001c0002t0001g0204 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.626-1153C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972838 | |||||||
chr2:72972971 | G | A | 4 | a0001c0001t0001g0114 a0001c0002t0001g0197 a0001c0002t0014g0198 others(1): Show |
4 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(1): Show |
intron_variant | MODIFIER | c.626-1286C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72972971 | |||||||
chr2:72973367 | G | A | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.626-1682C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72973367 | |||||||
chr2:72973871 | G | T | 2 | a0001c0002t0003g0230 a0001c0002t0005g0231 |
2 | HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.626-2186C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72973871 | |||||||
chr2:72973929 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.626-2244G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72973929 | |||||||
chr2:72973943 | C | G | 1 | a0001c0002t0001g0034 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.626-2258G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72973943 | |||||||
chr2:72974080 | G | A | 4 | a0001c0002t0001g0040 a0001c0002t0002g0093 a0001c0002t0003g0041 others(1): Show |
4 | HG01099.hp2 HG02717.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.626-2395C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974080 | |||||||
chr2:72974246 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.626-2561C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974246 | |||||||
chr2:72974344 | C | A | 2 | a0001c0001t0001g0176 a0001c0001t0004g0180 |
2 | HG03579.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.626-2659G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974344 | |||||||
chr2:72974515 | A | G | 1 | a0001c0001t0001g0135 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.626-2830T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974515 | |||||||
chr2:72974620 | T | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.626-2935A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974620 | |||||||
chr2:72974692 | G | C | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-3007C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974692 | |||||||
chr2:72974779 | C | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.626-3094G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974779 | |||||||
chr2:72974855 | G | GA | 121 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0095 others(118): Show |
122 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.626-3171dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974855 | |||||||
chr2:72974855 | GA | G | 54 | a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0002t0001g0035 others(51): Show |
54 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.626-3171delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974855 | |||||||
chr2:72974856 | A | AG | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0010g0193 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.626-3172_626-3171i others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974856 | |||||||
chr2:72974894 | C | T | 11 | a0001c0001t0001g0114 a0001c0002t0001g0067 a0001c0002t0001g0070 others(8): Show |
11 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(8): Show |
intron_variant | MODIFIER | c.626-3209G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72974894 | |||||||
chr2:72975346 | C | G | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.626-3661G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72975346 | |||||||
chr2:72975533 | T | C | 1 | a0001c0001t0001g0116 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.626-3848A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72975533 | |||||||
chr2:72975662 | G | A | 2 | a0001c0001t0003g0241 a0001c0001t0005g0242 |
2 | HG01884.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.626-3977C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72975662 | |||||||
chr2:72975670 | G | A | 1 | a0001c0003t0017g0023 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.626-3985C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72975670 | |||||||
chr2:72976030 | T | C | 3 | a0001c0001t0004g0195 a0001c0001t0015g0194 a0001c0001t0021g0010 |
3 | HG01361.hp2 HG01884.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.626-4345A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976030 | |||||||
chr2:72976147 | C | T | 1 | a0001c0002t0001g0055 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.626-4462G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976147 | |||||||
chr2:72976243 | A | G | 1 | a0001c0002t0022g0062 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.626-4558T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976243 | |||||||
chr2:72976296 | T | TA | 29 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(26): Show |
29 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(26): Show |
intron_variant | MODIFIER | c.626-4612dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976296 | |||||||
chr2:72976542 | C | A | 2 | a0001c0002t0001g0051 a0001c0002t0022g0062 |
2 | HG00733.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.626-4857G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976542 | |||||||
chr2:72976917 | T | G | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.626-5232A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976917 | |||||||
chr2:72976996 | C | T | 1 | a0001c0001t0001g0134 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.626-5311G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72976996 | |||||||
chr2:72977074 | G | A | 54 | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.626-5389C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977074 | |||||||
chr2:72977281 | C | A | 1 | a0001c0001t0025g0096 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.626-5596G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977281 | |||||||
chr2:72977516 | G | A | 29 | a0001c0001t0004g0203 a0001c0002t0001g0052 a0001c0002t0001g0147 others(26): Show |
29 | HG02056.hp1 HG02071.hp2 HG02647.hp1 others(26): Show |
intron_variant | MODIFIER | c.626-5831C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977516 | |||||||
chr2:72977528 | A | G | 2 | a0001c0002t0011g0085 a0001c0002t0023g0237 |
2 | HG02922.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.626-5843T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977528 | |||||||
chr2:72977550 | T | G | 1 | a0001c0001t0002g0163 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.626-5865A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977550 | |||||||
chr2:72977693 | G | C | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.626-6008C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977693 | |||||||
chr2:72977695 | T | C | 130 | a0001c0001t0001g0114 a0001c0001t0002g0007 a0001c0001t0002g0014 others(127): Show |
130 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.626-6010A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977695 | |||||||
chr2:72977709 | T | C | 2 | a0001c0001t0003g0247 a0001c0001t0016g0248 |
2 | HG02896.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.626-6024A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977709 | |||||||
chr2:72977827 | A | G | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.626-6142T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977827 | |||||||
chr2:72977846 | C | T | 1 | a0001c0001t0004g0180 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.626-6161G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977846 | |||||||
chr2:72977875 | G | A | 49 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(46): Show |
49 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(46): Show |
intron_variant | MODIFIER | c.626-6190C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977875 | |||||||
chr2:72977904 | C | T | 3 | a0001c0002t0003g0025 a0001c0002t0009g0012 a0001c0002t0012g0026 |
3 | HG02109.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.626-6219G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977904 | |||||||
chr2:72977937 | C | T | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.626-6252G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977937 | |||||||
chr2:72977974 | G | GA | 33 | a0001c0001t0004g0203 a0001c0002t0001g0052 a0001c0002t0001g0057 others(30): Show |
33 | HG00438.hp1 HG01981.hp2 HG02056.hp1 others(30): Show |
intron_variant | MODIFIER | c.626-6290dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72977974 | |||||||
chr2:72978004 | GA | G | 127 | a0001c0001t0001g0114 a0001c0001t0002g0014 a0001c0001t0003g0241 others(124): Show |
127 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.626-6320delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978004 | |||||||
chr2:72978146 | C | T | 1 | a0001c0002t0001g0050 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.626-6461G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978146 | |||||||
chr2:72978230 | G | C | 31 | a0001c0001t0004g0203 a0001c0002t0001g0052 a0001c0002t0001g0147 others(28): Show |
31 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(28): Show |
intron_variant | MODIFIER | c.626-6545C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978230 | |||||||
chr2:72978313 | C | T | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.626-6628G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978313 | |||||||
chr2:72978374 | C | T | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.626-6689G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978374 | |||||||
chr2:72978428 | G | A | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-6743C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978428 | |||||||
chr2:72978687 | C | T | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.626-7002G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978687 | |||||||
chr2:72978717 | A | G | 128 | a0001c0001t0001g0114 a0001c0001t0002g0014 a0001c0001t0003g0241 others(125): Show |
128 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.626-7032T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978717 | |||||||
chr2:72978831 | C | T | 2 | a0001c0002t0002g0029 a0001c0002t0008g0028 |
2 | HG01261.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.626-7146G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978831 | |||||||
chr2:72978849 | C | T | 64 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0081 others(61): Show |
64 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(61): Show |
intron_variant | MODIFIER | c.626-7164G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72978849 | |||||||
chr2:72979004 | C | T | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0004g0006 |
3 | HG02572.hp1 HG03098.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.626-7319G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979004 | |||||||
chr2:72979227 | C | T | 58 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(55): Show |
58 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.626-7542G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979227 | |||||||
chr2:72979365 | G | GTAATCCC others(1): Show |
34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.626-7681_626-7680i others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979365 | |||||||
chr2:72979368 | T | A | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.626-7683A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979368 | |||||||
chr2:72979369 | C | CTTTGAG | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.626-7685_626-7684i others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979369 | |||||||
chr2:72979371 | T | G | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.626-7686A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979371 | |||||||
chr2:72979404 | C | T | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.626-7719G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979404 | |||||||
chr2:72979408 | T | C | 2 | a0001c0002t0011g0085 a0001c0002t0023g0237 |
2 | HG02922.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.626-7723A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979408 | |||||||
chr2:72979629 | G | A | 29 | a0001c0002t0001g0052 a0001c0002t0001g0204 a0001c0002t0001g0205 others(26): Show |
29 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(26): Show |
intron_variant | MODIFIER | c.626-7944C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979629 | |||||||
chr2:72979650 | G | T | 1 | a0001c0001t0001g0158 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.626-7965C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72979650 | |||||||
chr2:72980304 | G | A | 1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.625+7954C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72980304 | |||||||
chr2:72980330 | G | A | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.625+7928C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72980330 | |||||||
chr2:72980339 | C | T | 1 | a0001c0001t0003g0128 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.625+7919G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72980339 | |||||||
chr2:72980900 | C | T | 57 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(54): Show |
57 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.625+7358G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72980900 | |||||||
chr2:72981218 | T | C | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.625+7040A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981218 | |||||||
chr2:72981441 | C | T | 1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.625+6817G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981441 | |||||||
chr2:72981863 | T | C | 1 | a0001c0001t0010g0183 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.625+6395A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981863 | |||||||
chr2:72981888 | T | A | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+6370A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981888 | |||||||
chr2:72981965 | T | TTG | 32 | a0001c0001t0001g0095 a0001c0001t0001g0160 a0001c0001t0001g0238 others(29): Show |
32 | HG00438.hp1 HG01123.hp2 HG01433.hp2 others(29): Show |
intron_variant | MODIFIER | c.625+6291_625+6292d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | T | TTGTG | 4 | a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0005g0016 others(1): Show |
4 | HG02647.hp1 HG03669.hp1 NA19002.hp2 others(1): Show |
intron_variant | MODIFIER | c.625+6289_625+6292d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | T | TTGTGTG | 11 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(8): Show |
11 | HG01261.hp2 HG02109.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.625+6287_625+6292d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | T | TTGTGTGT others(1): Show |
10 | a0001c0001t0010g0193 a0001c0001t0014g0245 a0001c0002t0001g0052 others(7): Show |
10 | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.625+6285_625+6292d others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | T | TTGTGTGT others(3): Show |
3 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0002t0003g0025 |
3 | HG01884.hp2 HG02280.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.625+6283_625+6292d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | TTG | T | 150 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0098 others(147): Show |
151 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(148): Show |
intron_variant | MODIFIER | c.625+6291_625+6292d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981965 | TTGTG | T | 16 | a0001c0001t0001g0146 a0001c0001t0002g0014 a0001c0001t0002g0033 others(13): Show |
16 | HG01255.hp1 HG01361.hp2 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.625+6289_625+6292d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981965 | |||||||
chr2:72981996 | T | C | 57 | a0001c0001t0001g0114 a0001c0001t0002g0007 a0001c0001t0003g0008 others(54): Show |
57 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.625+6262A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981996 | |||||||
chr2:72981996 | T | TGC | 3 | a0001c0002t0016g0235 a0001c0011t0002g0089 a0001c0012t0007g0088 |
3 | HG01243.hp1 HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.625+6260_625+6261d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72981996 | |||||||
chr2:72982027 | T | C | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.625+6231A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982027 | |||||||
chr2:72982028 | AC | A | 22 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(19): Show |
22 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.625+6229delG | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982028 | |||||||
chr2:72982062 | G | A | 1 | a0001c0002t0001g0055 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.625+6196C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982062 | |||||||
chr2:72982075 | T | C | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.625+6183A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982075 | |||||||
chr2:72982135 | T | C | 3 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 |
3 | HG02630.hp2 HG03041.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.625+6123A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982135 | |||||||
chr2:72982207 | G | A | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.625+6051C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982207 | |||||||
chr2:72982219 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.625+6039C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982219 | |||||||
chr2:72982259 | AG | A | 50 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(47): Show |
50 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(47): Show |
intron_variant | MODIFIER | c.625+5998delC | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982259 | |||||||
chr2:72982350 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.625+5908G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982350 | |||||||
chr2:72982447 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.625+5811C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982447 | |||||||
chr2:72982622 | G | A | 57 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(54): Show |
57 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.625+5636C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982622 | |||||||
chr2:72982644 | G | A | 58 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(55): Show |
58 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.625+5614C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982644 | |||||||
chr2:72982665 | T | C | 58 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(55): Show |
58 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.625+5593A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982665 | |||||||
chr2:72982690 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.625+5568C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982690 | |||||||
chr2:72982818 | G | A | 58 | a0001c0001t0001g0114 a0001c0002t0001g0035 a0001c0002t0001g0036 others(55): Show |
58 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.625+5440C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982818 | |||||||
chr2:72982836 | G | A | 5 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 others(2): Show |
5 | HG02647.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.625+5422C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982836 | |||||||
chr2:72982852 | C | T | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+5406G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982852 | |||||||
chr2:72982978 | T | C | 1 | a0001c0002t0022g0062 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.625+5280A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72982978 | |||||||
chr2:72983020 | G | A | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.625+5238C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983020 | |||||||
chr2:72983121 | C | A | 1 | a0001c0002t0002g0038 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.625+5137G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983121 | |||||||
chr2:72983156 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.625+5102C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983156 | |||||||
chr2:72983229 | G | A | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.625+5029C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983229 | |||||||
chr2:72983240 | G | A | 1 | a0001c0002t0002g0038 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.625+5018C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983240 | |||||||
chr2:72983249 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.625+5009G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983249 | |||||||
chr2:72983282 | T | C | 58 | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(55): Show |
58 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(55): Show |
intron_variant | MODIFIER | c.625+4976A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983282 | |||||||
chr2:72983546 | T | G | 1 | a0001c0011t0002g0089 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.625+4712A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983546 | |||||||
chr2:72983569 | C | G | 1 | a0001c0001t0001g0227 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.625+4689G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983569 | |||||||
chr2:72983849 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.625+4409C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983849 | |||||||
chr2:72983921 | A | G | 4 | a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0057 others(1): Show |
4 | HG00597.hp1 HG02074.hp1 HG02165.hp1 others(1): Show |
intron_variant | MODIFIER | c.625+4337T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72983921 | |||||||
chr2:72984009 | G | A | 5 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 others(2): Show |
5 | HG01243.hp1 HG02055.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.625+4249C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984009 | |||||||
chr2:72984387 | A | T | 49 | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 others(46): Show |
49 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(46): Show |
intron_variant | MODIFIER | c.625+3871T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984387 | |||||||
chr2:72984506 | GGGCCTGG others(2): Show |
G | 7 | a0001c0001t0001g0080 a0001c0001t0002g0170 a0001c0001t0003g0182 others(4): Show |
7 | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(4): Show |
intron_variant | MODIFIER | c.625+3743_625+3751d others(11): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984506 | |||||||
chr2:72984653 | G | A | 3 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 |
3 | HG02647.hp2 HG02818.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.625+3605C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984653 | |||||||
chr2:72984767 | G | A | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.625+3491C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984767 | |||||||
chr2:72984778 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.625+3480G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984778 | |||||||
chr2:72984975 | C | T | 24 | a0001c0002t0001g0052 a0001c0002t0001g0204 a0001c0002t0001g0205 others(21): Show |
24 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(21): Show |
intron_variant | MODIFIER | c.625+3283G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72984975 | |||||||
chr2:72985294 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.625+2964C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985294 | |||||||
chr2:72985513 | C | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.625+2745G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985513 | |||||||
chr2:72985526 | G | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.625+2732C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985526 | |||||||
chr2:72985698 | G | A | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+2560C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985698 | |||||||
chr2:72985752 | T | G | 9 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(6): Show |
9 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.625+2506A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985752 | |||||||
chr2:72985770 | C | T | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+2488G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985770 | |||||||
chr2:72985998 | C | T | 2 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | HG02083.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.625+2260G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72985998 | |||||||
chr2:72986121 | G | A | 1 | a0001c0001t0001g0109 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.625+2137C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72986121 | |||||||
chr2:72986452 | T | G | 92 | a0001c0001t0002g0007 a0001c0001t0002g0090 a0001c0001t0003g0008 others(89): Show |
92 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.625+1806A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72986452 | |||||||
chr2:72986497 | G | T | 4 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0003g0031 others(1): Show |
4 | HG01261.hp2 HG02723.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.625+1761C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72986497 | |||||||
chr2:72986566 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.625+1692G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72986566 | |||||||
chr2:72987059 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.625+1199C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987059 | |||||||
chr2:72987092 | T | C | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.625+1166A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987092 | |||||||
chr2:72987110 | G | T | 1 | a0001c0001t0003g0247 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.625+1148C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987110 | |||||||
chr2:72987113 | G | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.625+1145C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987113 | |||||||
chr2:72987114 | T | G | 1 | a0001c0001t0003g0247 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.625+1144A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987114 | |||||||
chr2:72987594 | A | T | 1 | a0001c0001t0015g0194 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.625+664T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987594 | |||||||
chr2:72987733 | T | C | 2 | a0001c0001t0001g0136 a0003c0007t0001g0139 |
2 | HG00735.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.625+525A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72987733 | |||||||
chr2:72988101 | T | TGGTC | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.625+153_625+156dup others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 10/13 | chr2 | 72988101 | |||||||
chr2:72988383 | A | G | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.535-35T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988383 | |||||||
chr2:72988433 | T | C | 135 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(132): Show |
135 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(132): Show |
intron_variant | MODIFIER | c.535-85A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988433 | |||||||
chr2:72988458 | C | T | 2 | a0001c0002t0001g0212 a0001c0002t0001g0214 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.535-110G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988458 | |||||||
chr2:72988518 | C | T | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.535-170G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988518 | |||||||
chr2:72988620 | T | C | 2 | a0001c0002t0010g0233 a0001c0002t0010g0234 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.535-272A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988620 | |||||||
chr2:72988900 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.535-552C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988900 | |||||||
chr2:72988921 | A | C | 2 | a0001c0001t0001g0145 a0001c0001t0002g0142 |
2 | NA18973.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.535-573T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988921 | |||||||
chr2:72988958 | A | G | 134 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(131): Show |
134 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.535-610T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988958 | |||||||
chr2:72988964 | C | T | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.535-616G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988964 | |||||||
chr2:72988966 | C | T | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.535-618G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988966 | |||||||
chr2:72988989 | C | T | 2 | a0001c0002t0011g0085 a0001c0002t0023g0237 |
2 | HG02922.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.535-641G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72988989 | |||||||
chr2:72989026 | C | T | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.535-678G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989026 | |||||||
chr2:72989069 | T | C | 2 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | HG02083.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.535-721A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989069 | |||||||
chr2:72989206 | C | T | 34 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(31): Show |
34 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(31): Show |
intron_variant | MODIFIER | c.535-858G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989206 | |||||||
chr2:72989300 | T | G | 35 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(32): Show |
35 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(32): Show |
intron_variant | MODIFIER | c.535-952A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989300 | |||||||
chr2:72989340 | G | T | 130 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(127): Show |
130 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.535-992C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989340 | |||||||
chr2:72989514 | C | T | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.535-1166G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989514 | |||||||
chr2:72989642 | G | A | 3 | a0001c0002t0003g0025 a0001c0002t0009g0012 a0001c0002t0012g0026 |
3 | HG02109.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.535-1294C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989642 | |||||||
chr2:72989710 | G | A | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.535-1362C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989710 | |||||||
chr2:72989893 | T | C | 41 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0004g0195 others(38): Show |
41 | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(38): Show |
intron_variant | MODIFIER | c.535-1545A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72989893 | |||||||
chr2:72990055 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.535-1707C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990055 | |||||||
chr2:72990130 | G | A | 39 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0004g0195 others(36): Show |
39 | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.535-1782C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990130 | |||||||
chr2:72990254 | A | G | 8 | a0001c0001t0002g0014 a0001c0001t0004g0195 a0001c0001t0005g0015 others(5): Show |
8 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.535-1906T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990254 | |||||||
chr2:72990309 | C | T | 1 | a0001c0002t0001g0052 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.535-1961G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990309 | |||||||
chr2:72990358 | G | A | 1 | a0001c0014t0003g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.535-2010C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990358 | |||||||
chr2:72990460 | T | C | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.535-2112A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990460 | |||||||
chr2:72990470 | T | C | 109 | a0001c0001t0001g0063 a0001c0001t0002g0007 a0001c0001t0002g0014 others(106): Show |
109 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(106): Show |
intron_variant | MODIFIER | c.535-2122A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990470 | |||||||
chr2:72990767 | G | A | 1 | a0001c0001t0004g0203 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.535-2419C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990767 | |||||||
chr2:72990826 | G | A | 3 | a0001c0002t0001g0197 a0001c0002t0014g0198 a0001c0002t0018g0199 |
3 | HG00280.hp2 HG00323.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.535-2478C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72990826 | |||||||
chr2:72991053 | C | A | 130 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(127): Show |
130 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.535-2705G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991053 | |||||||
chr2:72991403 | C | A | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.535-3055G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991403 | |||||||
chr2:72991547 | T | A | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.535-3199A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991547 | |||||||
chr2:72991608 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535-3260G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991608 | |||||||
chr2:72991623 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.535-3275G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991623 | |||||||
chr2:72991688 | T | C | 7 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0008g0091 others(4): Show |
7 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.535-3340A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991688 | |||||||
chr2:72991768 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535-3420G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72991768 | |||||||
chr2:72992002 | G | C | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535-3654C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992002 | |||||||
chr2:72992045 | G | A | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535-3697C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992045 | |||||||
chr2:72992523 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.535-4175G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992523 | |||||||
chr2:72992525 | T | C | 134 | a0001c0001t0001g0063 a0001c0001t0002g0007 a0001c0001t0002g0014 others(131): Show |
134 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.535-4177A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992525 | |||||||
chr2:72992596 | G | A | 30 | a0001c0002t0001g0052 a0001c0002t0001g0147 a0001c0002t0001g0204 others(27): Show |
30 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(27): Show |
intron_variant | MODIFIER | c.535-4248C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992596 | |||||||
chr2:72992624 | C | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.535-4276G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992624 | |||||||
chr2:72992678 | G | T | 4 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 others(1): Show |
4 | HG02647.hp2 HG02818.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.535-4330C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992678 | |||||||
chr2:72992731 | C | A | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.535-4383G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992731 | |||||||
chr2:72992793 | C | T | 68 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0095 others(65): Show |
68 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(65): Show |
intron_variant | MODIFIER | c.535-4445G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992793 | |||||||
chr2:72992917 | G | A | 2 | a0001c0001t0001g0125 a0001c0001t0002g0033 |
2 | HG02615.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.535-4569C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72992917 | |||||||
chr2:72993009 | A | G | 137 | a0001c0001t0001g0063 a0001c0001t0002g0007 a0001c0001t0002g0014 others(134): Show |
137 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.535-4661T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72993009 | |||||||
chr2:72993501 | C | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.535-5153G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72993501 | |||||||
chr2:72993529 | T | A | 4 | a0001c0002t0001g0052 a0001c0002t0001g0204 a0001c0002t0001g0206 others(1): Show |
4 | HG02056.hp1 HG02071.hp2 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.535-5181A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72993529 | |||||||
chr2:72993747 | G | A | 30 | a0001c0002t0001g0052 a0001c0002t0001g0147 a0001c0002t0001g0204 others(27): Show |
30 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(27): Show |
intron_variant | MODIFIER | c.534+5202C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72993747 | |||||||
chr2:72993873 | C | T | 117 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0003g0128 others(114): Show |
117 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.534+5076G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72993873 | |||||||
chr2:72994031 | G | A | 115 | a0001c0001t0002g0090 a0001c0001t0004g0195 a0001c0001t0008g0091 others(112): Show |
115 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.534+4918C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994031 | |||||||
chr2:72994036 | G | A | 30 | a0001c0002t0001g0052 a0001c0002t0001g0147 a0001c0002t0001g0204 others(27): Show |
30 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(27): Show |
intron_variant | MODIFIER | c.534+4913C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994036 | |||||||
chr2:72994372 | C | T | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.534+4577G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994372 | |||||||
chr2:72994428 | C | T | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.534+4521G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994428 | |||||||
chr2:72994550 | C | T | 2 | a0001c0002t0002g0029 a0001c0002t0008g0028 |
2 | HG01261.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.534+4399G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994550 | |||||||
chr2:72994794 | C | T | 1 | a0001c0001t0002g0014 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.534+4155G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994794 | |||||||
chr2:72994808 | C | T | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.534+4141G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994808 | |||||||
chr2:72994848 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.534+4101C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994848 | |||||||
chr2:72994908 | G | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.534+4041C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994908 | |||||||
chr2:72994911 | C | T | 1 | a0001c0002t0003g0202 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.534+4038G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72994911 | |||||||
chr2:72995133 | G | A | 1 | a0001c0001t0001g0112 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.534+3816C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995133 | |||||||
chr2:72995136 | C | T | 3 | a0001c0001t0004g0195 a0001c0001t0015g0194 a0001c0001t0021g0010 |
3 | HG01361.hp2 HG01884.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.534+3813G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995136 | |||||||
chr2:72995141 | C | G | 1 | a0001c0001t0001g0137 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.534+3808G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995141 | |||||||
chr2:72995210 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.534+3739G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995210 | |||||||
chr2:72995321 | C | T | 3 | a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0053 |
3 | HG02015.hp2 HG02083.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.534+3628G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995321 | |||||||
chr2:72995332 | T | C | 2 | a0001c0001t0002g0172 a0001c0001t0002g0173 |
2 | HG02622.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.534+3617A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995332 | |||||||
chr2:72995579 | C | T | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.534+3370G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995579 | |||||||
chr2:72995603 | A | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.534+3346T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995603 | |||||||
chr2:72995610 | C | A | 1 | a0001c0003t0006g0200 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.534+3339G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995610 | |||||||
chr2:72995621 | G | T | 4 | a0001c0001t0004g0195 a0001c0001t0015g0194 a0001c0001t0024g0097 others(1): Show |
4 | HG01884.hp1 HG01891.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.534+3328C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995621 | |||||||
chr2:72995943 | C | T | 49 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 others(46): Show |
49 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(46): Show |
intron_variant | MODIFIER | c.534+3006G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72995943 | |||||||
chr2:72996108 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.534+2841C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996108 | |||||||
chr2:72996287 | C | T | 1 | a0001c0001t0001g0152 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.534+2662G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996287 | |||||||
chr2:72996289 | C | A | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.534+2660G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996289 | |||||||
chr2:72996335 | C | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.534+2614G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996335 | |||||||
chr2:72996498 | C | A | 1 | a0001c0002t0004g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.534+2451G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996498 | |||||||
chr2:72996502 | G | GT | 7 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0040 others(4): Show |
7 | HG00597.hp1 HG01978.hp1 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.534+2446dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996502 | |||||||
chr2:72996507 | G | GT | 95 | a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0095 others(92): Show |
95 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(92): Show |
intron_variant | MODIFIER | c.534+2441dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996507 | |||||||
chr2:72996507 | G | GTT | 9 | a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0150 others(6): Show |
9 | HG01109.hp1 HG01978.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.534+2440_534+2441d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996507 | |||||||
chr2:72996507 | G | T | 50 | a0001c0001t0002g0090 a0001c0002t0001g0034 a0001c0002t0001g0035 others(47): Show |
50 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.534+2442C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996507 | |||||||
chr2:72996593 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.534+2356G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996593 | |||||||
chr2:72996610 | A | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.534+2339T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996610 | |||||||
chr2:72996657 | C | T | 1 | a0001c0001t0002g0163 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.534+2292G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996657 | |||||||
chr2:72996679 | T | G | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.534+2270A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72996679 | |||||||
chr2:72997105 | A | G | 1 | a0001c0002t0001g0217 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.534+1844T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997105 | |||||||
chr2:72997318 | C | T | 1 | a0001c0001t0005g0015 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.534+1631G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997318 | |||||||
chr2:72997322 | C | T | 1 | a0001c0001t0001g0124 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.534+1627G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997322 | |||||||
chr2:72997596 | T | A | 116 | a0001c0001t0001g0063 a0001c0001t0001g0150 a0001c0001t0002g0007 others(113): Show |
116 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.534+1353A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997596 | |||||||
chr2:72997600 | T | A | 2 | a0001c0002t0001g0051 a0001c0002t0022g0062 |
2 | HG00733.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.534+1349A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997600 | |||||||
chr2:72997891 | C | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.534+1058G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997891 | |||||||
chr2:72997942 | G | C | 118 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(115): Show |
118 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.534+1007C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997942 | |||||||
chr2:72997955 | G | T | 1 | a0001c0001t0024g0097 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.534+994C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72997955 | |||||||
chr2:72998009 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.534+940G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998009 | |||||||
chr2:72998190 | C | T | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.534+759G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998190 | |||||||
chr2:72998234 | G | T | 2 | a0001c0002t0001g0212 a0001c0002t0001g0214 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.534+715C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998234 | |||||||
chr2:72998237 | G | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.534+712C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998237 | |||||||
chr2:72998257 | A | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.534+692T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998257 | |||||||
chr2:72998350 | G | A | 2 | a0001c0002t0001g0206 a0001c0002t0001g0215 |
2 | NA19010.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.534+599C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998350 | |||||||
chr2:72998374 | G | A | 1 | a0001c0001t0001g0063 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.534+575C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998374 | |||||||
chr2:72998437 | G | C | 13 | a0001c0001t0002g0014 a0001c0001t0002g0090 a0001c0001t0003g0241 others(10): Show |
13 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.534+512C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998437 | |||||||
chr2:72998534 | C | A | 1 | a0001c0001t0001g0098 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.534+415G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998534 | |||||||
chr2:72998608 | C | A | 50 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 others(47): Show |
50 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.534+341G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998608 | |||||||
chr2:72998625 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.534+324G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998625 | |||||||
chr2:72998676 | C | T | 5 | a0001c0001t0004g0195 a0001c0001t0015g0194 a0001c0001t0021g0010 others(2): Show |
5 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.534+273G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998676 | |||||||
chr2:72998785 | G | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.534+164C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 9/13 | chr2 | 72998785 | |||||||
chr2:72999130 | A | G | 142 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(139): Show |
142 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(139): Show |
intron_variant | MODIFIER | c.469-116T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999130 | |||||||
chr2:72999153 | T | C | 140 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(137): Show |
140 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(137): Show |
intron_variant | MODIFIER | c.469-139A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999153 | |||||||
chr2:72999283 | G | C | 144 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(141): Show |
144 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(141): Show |
intron_variant | MODIFIER | c.469-269C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999283 | |||||||
chr2:72999381 | T | C | 240 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(237): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.469-367A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999381 | |||||||
chr2:72999807 | C | T | 117 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(114): Show |
117 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.468+624G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999807 | |||||||
chr2:72999833 | G | C | 1 | a0001c0002t0001g0147 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.468+598C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999833 | |||||||
chr2:72999946 | G | T | 3 | a0001c0001t0004g0195 a0001c0001t0015g0194 a0001c0001t0021g0010 |
3 | HG01361.hp2 HG01884.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.468+485C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999946 | |||||||
chr2:72999973 | C | T | 4 | a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
4 | HG00741.hp2 HG01123.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.468+458G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 72999973 | |||||||
chr2:73000057 | G | C | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.468+374C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 73000057 | |||||||
chr2:73000406 | C | G | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.468+25G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 8/13 | chr2 | 73000406 | |||||||
chr2:73000590 | C | T | 1 | a0001c0001t0021g0010 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.412-103G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73000590 | |||||||
chr2:73000614 | C | T | 32 | a0001c0001t0004g0203 a0001c0002t0001g0045 a0001c0002t0001g0052 others(29): Show |
32 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(29): Show |
intron_variant | MODIFIER | c.412-127G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73000614 | |||||||
chr2:73000727 | C | A | 1 | a0001c0002t0001g0218 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.412-240G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73000727 | |||||||
chr2:73000845 | C | A | 2 | a0001c0001t0004g0195 a0001c0001t0015g0194 |
2 | HG01884.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.412-358G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73000845 | |||||||
chr2:73000939 | G | A | 50 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 others(47): Show |
50 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(47): Show |
intron_variant | MODIFIER | c.412-452C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73000939 | |||||||
chr2:73001044 | G | A | 1 | a0001c0001t0001g0232 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.411+481C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001044 | |||||||
chr2:73001271 | C | T | 1 | a0003c0007t0001g0139 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.411+254G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001271 | |||||||
chr2:73001319 | T | C | 1 | a0001c0001t0001g0077 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.411+206A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001319 | |||||||
chr2:73001348 | C | T | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.411+177G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001348 | |||||||
chr2:73001429 | G | T | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.411+96C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001429 | |||||||
chr2:73001474 | C | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.411+51G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 7/13 | chr2 | 73001474 | |||||||
chr2:73001870 | G | A | 115 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(112): Show |
115 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.358-292C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73001870 | |||||||
chr2:73001979 | C | A | 2 | a0001c0002t0013g0075 a0001c0002t0013g0076 |
2 | HG00741.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.358-401G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73001979 | |||||||
chr2:73001996 | C | T | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358-418G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73001996 | |||||||
chr2:73002052 | C | A | 1 | a0001c0001t0001g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.358-474G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002052 | |||||||
chr2:73002271 | T | C | 120 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(117): Show |
120 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.358-693A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002271 | |||||||
chr2:73002512 | C | T | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.358-934G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002512 | |||||||
chr2:73002676 | A | AAC | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.358-1100_358-1099d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002676 | |||||||
chr2:73002676 | AACACAC | A | 4 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0011t0002g0089 others(1): Show |
4 | HG02055.hp2 HG03209.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.358-1104_358-1099d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002676 | |||||||
chr2:73002758 | A | G | 1 | a0001c0004t0007g0192 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.358-1180T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002758 | |||||||
chr2:73002824 | G | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.358-1246C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002824 | |||||||
chr2:73002958 | A | C | 35 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(32): Show |
35 | HG00438.hp1 HG02056.hp1 HG02071.hp2 others(32): Show |
intron_variant | MODIFIER | c.358-1380T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73002958 | |||||||
chr2:73003041 | T | C | 134 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(131): Show |
134 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.358-1463A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003041 | |||||||
chr2:73003078 | C | T | 4 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(1): Show |
4 | HG01884.hp2 HG02280.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.358-1500G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003078 | |||||||
chr2:73003089 | C | G | 1 | a0001c0001t0001g0149 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.358-1511G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003089 | |||||||
chr2:73003193 | A | G | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.358-1615T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003193 | |||||||
chr2:73003206 | T | C | 1 | a0001c0001t0001g0143 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.358-1628A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003206 | |||||||
chr2:73003293 | G | A | 26 | a0001c0001t0004g0195 a0001c0001t0021g0010 a0001c0001t0025g0096 others(23): Show |
26 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.358-1715C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003293 | |||||||
chr2:73003372 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.358-1794C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003372 | |||||||
chr2:73003400 | C | T | 2 | a0001c0002t0002g0029 a0001c0002t0008g0028 |
2 | HG01261.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.358-1822G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003400 | |||||||
chr2:73003692 | C | G | 22 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(19): Show |
22 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.358-2114G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003692 | |||||||
chr2:73003984 | C | T | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.358-2406G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73003984 | |||||||
chr2:73004255 | C | T | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.358-2677G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004255 | |||||||
chr2:73004308 | T | TGC | 3 | a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0134 |
3 | HG00642.hp1 HG00642.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.358-2732_358-2731d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004308 | |||||||
chr2:73004308 | TGC | T | 55 | a0001c0001t0001g0063 a0001c0001t0004g0203 a0001c0002t0001g0034 others(52): Show |
55 | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.358-2732_358-2731d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004308 | |||||||
chr2:73004313 | G | GCA | 9 | a0001c0001t0002g0090 a0001c0002t0001g0054 a0001c0002t0002g0208 others(6): Show |
9 | HG01243.hp1 HG01243.hp2 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.358-2736_358-2735i others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004313 | |||||||
chr2:73004313 | G | GCACACA | 8 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(5): Show |
8 | HG01099.hp2 HG01261.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.358-2736_358-2735i others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004313 | |||||||
chr2:73004313 | G | GCACACAC others(1): Show |
7 | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0003t0006g0018 others(4): Show |
7 | HG01109.hp1 HG02280.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.358-2736_358-2735i others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004313 | |||||||
chr2:73004313 | G | GCACACAC others(3): Show |
1 | a0001c0003t0006g0243 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.358-2736_358-2735i others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004313 | |||||||
chr2:73004313 | GCGCA | G | 12 | a0001c0002t0001g0035 a0001c0002t0001g0040 a0001c0002t0001g0073 others(9): Show |
12 | HG00741.hp1 HG01256.hp2 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.358-2739_358-2736d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004313 | |||||||
chr2:73004315 | G | A | 43 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0001g0048 others(40): Show |
43 | HG00323.hp2 HG00597.hp1 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.358-2737C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | G | GCA | 29 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(26): Show |
30 | HG00544.hp2 HG00597.hp2 HG01169.hp1 others(27): Show |
intron_variant | MODIFIER | c.358-2739_358-2738d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | G | GCACA | 6 | a0001c0001t0001g0080 a0001c0001t0004g0195 a0001c0001t0015g0194 others(3): Show |
6 | HG00099.hp1 HG00140.hp1 HG01884.hp1 others(3): Show |
intron_variant | MODIFIER | c.358-2741_358-2738d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | G | GCACACA | 6 | a0001c0001t0001g0144 a0001c0001t0002g0170 a0001c0001t0010g0193 others(3): Show |
6 | HG00733.hp1 HG01361.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.358-2743_358-2738d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | GCA | G | 8 | a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0119 others(5): Show |
8 | HG01169.hp2 HG02015.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.358-2739_358-2738d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | GCACA | G | 7 | a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 others(4): Show |
7 | HG01070.hp1 HG01433.hp1 HG01975.hp1 others(4): Show |
intron_variant | MODIFIER | c.358-2741_358-2738d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004315 | GCACACA | G | 12 | a0001c0001t0001g0143 a0001c0001t0002g0014 a0001c0001t0003g0241 others(9): Show |
12 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.358-2743_358-2738d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004315 | |||||||
chr2:73004319 | A | G | 1 | a0001c0012t0007g0088 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.358-2741T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004319 | |||||||
chr2:73004321 | A | G | 1 | a0001c0011t0002g0089 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.358-2743T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004321 | |||||||
chr2:73004323 | A | G | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-2745T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004323 | |||||||
chr2:73004492 | A | G | 7 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0001g0086 others(4): Show |
7 | HG02145.hp2 HG02572.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.358-2914T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004492 | |||||||
chr2:73004514 | G | A | 1 | a0001c0001t0001g0081 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.358-2936C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004514 | |||||||
chr2:73004524 | C | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-2946G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004524 | |||||||
chr2:73004688 | T | C | 138 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(135): Show |
138 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.358-3110A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004688 | |||||||
chr2:73004833 | C | T | 1 | a0001c0001t0001g0239 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.358-3255G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73004833 | |||||||
chr2:73005360 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.358-3782C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005360 | |||||||
chr2:73005370 | T | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358-3792A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005370 | |||||||
chr2:73005374 | C | T | 7 | a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0001g0222 others(4): Show |
7 | NA18948.hp1 NA18957.hp1 NA18959.hp1 others(4): Show |
intron_variant | MODIFIER | c.358-3796G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005374 | |||||||
chr2:73005501 | C | T | 55 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.358-3923G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005501 | |||||||
chr2:73005543 | C | T | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.358-3965G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005543 | |||||||
chr2:73005567 | G | A | 55 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.358-3989C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005567 | |||||||
chr2:73005680 | G | A | 29 | a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0176 others(26): Show |
30 | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.358-4102C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005680 | |||||||
chr2:73005770 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-4192C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005770 | |||||||
chr2:73005989 | G | A | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.358-4411C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73005989 | |||||||
chr2:73006050 | C | T | 1 | a0001c0002t0001g0066 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.358-4472G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006050 | |||||||
chr2:73006160 | AAG | A | 6 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(3): Show |
6 | HG00280.hp1 HG00735.hp2 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.358-4584_358-4583d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006160 | |||||||
chr2:73006216 | G | A | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.358-4638C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006216 | |||||||
chr2:73006225 | C | G | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.358-4647G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006225 | |||||||
chr2:73006280 | G | A | 3 | a0001c0002t0003g0025 a0001c0002t0009g0012 a0001c0002t0012g0026 |
3 | HG02109.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.358-4702C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006280 | |||||||
chr2:73006317 | C | T | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.358-4739G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006317 | |||||||
chr2:73006386 | C | A | 1 | a0001c0001t0010g0183 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.358-4808G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006386 | |||||||
chr2:73006515 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-4937C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006515 | |||||||
chr2:73006628 | C | CA | 24 | a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0114 others(21): Show |
24 | HG00140.hp2 HG00741.hp2 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.358-5051dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006628 | |||||||
chr2:73006628 | CA | C | 6 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0005g0016 others(3): Show |
6 | HG02055.hp2 HG02630.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.358-5051delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006628 | |||||||
chr2:73006747 | G | A | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.358-5169C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006747 | |||||||
chr2:73006768 | T | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358-5190A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006768 | |||||||
chr2:73006813 | C | T | 134 | a0001c0001t0001g0063 a0001c0001t0002g0007 a0001c0001t0002g0014 others(131): Show |
134 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.358-5235G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006813 | |||||||
chr2:73006892 | C | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.358-5314G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006892 | |||||||
chr2:73006934 | C | G | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358-5356G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73006934 | |||||||
chr2:73007075 | A | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.358-5497T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007075 | |||||||
chr2:73007108 | T | C | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-5530A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007108 | |||||||
chr2:73007203 | C | G | 30 | a0001c0001t0004g0203 a0001c0002t0001g0147 a0001c0002t0001g0204 others(27): Show |
30 | HG00438.hp1 HG02071.hp2 HG02647.hp1 others(27): Show |
intron_variant | MODIFIER | c.358-5625G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007203 | |||||||
chr2:73007286 | G | A | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.358-5708C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007286 | |||||||
chr2:73007303 | T | C | 3 | a0001c0001t0001g0227 a0001c0001t0008g0228 a0001c0001t0026g0117 |
3 | HG02145.hp1 NA18983.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.358-5725A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007303 | |||||||
chr2:73007340 | G | A | 30 | a0001c0001t0004g0203 a0001c0002t0001g0147 a0001c0002t0001g0204 others(27): Show |
30 | HG00438.hp1 HG02071.hp2 HG02647.hp1 others(27): Show |
intron_variant | MODIFIER | c.358-5762C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007340 | |||||||
chr2:73007448 | G | A | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.358-5870C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007448 | |||||||
chr2:73007549 | C | G | 113 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(110): Show |
113 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.358-5971G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007549 | |||||||
chr2:73007687 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-6109C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007687 | |||||||
chr2:73007742 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-6164C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007742 | |||||||
chr2:73007828 | T | C | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.358-6250A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007828 | |||||||
chr2:73007916 | C | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.358-6338G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73007916 | |||||||
chr2:73008012 | C | T | 1 | a0001c0002t0002g0069 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.358-6434G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008012 | |||||||
chr2:73008048 | G | A | 1 | a0001c0001t0001g0121 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.358-6470C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008048 | |||||||
chr2:73008060 | C | T | 1 | a0001c0008t0001g0113 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.358-6482G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008060 | |||||||
chr2:73008061 | G | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.358-6483C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008061 | |||||||
chr2:73008129 | C | T | 2 | a0001c0001t0004g0195 a0001c0001t0015g0194 |
2 | HG01884.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.358-6551G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008129 | |||||||
chr2:73008229 | G | A | 55 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.358-6651C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008229 | |||||||
chr2:73008360 | GAGA | G | 8 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(5): Show |
8 | HG01099.hp2 HG01261.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.358-6785_358-6783d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008360 | |||||||
chr2:73008547 | G | A | 1 | a0001c0003t0006g0017 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.358-6969C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008547 | |||||||
chr2:73008582 | A | G | 131 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(128): Show |
131 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.358-7004T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008582 | |||||||
chr2:73008620 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.358-7042C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008620 | |||||||
chr2:73008643 | T | C | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.358-7065A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008643 | |||||||
chr2:73008935 | G | A | 2 | a0001c0001t0003g0241 a0001c0001t0005g0242 |
2 | HG01884.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.358-7357C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73008935 | |||||||
chr2:73009010 | C | G | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.358-7432G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009010 | |||||||
chr2:73009070 | C | T | 1 | a0001c0002t0001g0059 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.358-7492G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009070 | |||||||
chr2:73009232 | C | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.358-7654G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009232 | |||||||
chr2:73009397 | G | A | 1 | a0001c0002t0001g0167 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.358-7819C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009397 | |||||||
chr2:73009540 | A | C | 130 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(127): Show |
130 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.358-7962T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009540 | |||||||
chr2:73009541 | T | C | 10 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(7): Show |
10 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.358-7963A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009541 | |||||||
chr2:73009607 | C | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.358-8029G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009607 | |||||||
chr2:73009780 | A | G | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.358-8202T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009780 | |||||||
chr2:73009827 | T | C | 1 | a0001c0001t0001g0119 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.358-8249A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009827 | |||||||
chr2:73009858 | GA | G | 106 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(103): Show |
106 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.358-8281delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73009858 | |||||||
chr2:73010111 | T | C | 106 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(103): Show |
106 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.358-8533A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73010111 | |||||||
chr2:73010227 | C | A | 55 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.358-8649G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73010227 | |||||||
chr2:73010305 | G | A | 29 | a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0176 others(26): Show |
30 | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.358-8727C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73010305 | |||||||
chr2:73010877 | G | T | 1 | a0001c0001t0001g0130 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.358-9299C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73010877 | |||||||
chr2:73011198 | C | T | 1 | a0001c0001t0005g0015 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.357+9041G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011198 | |||||||
chr2:73011305 | T | C | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.357+8934A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011305 | |||||||
chr2:73011470 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.357+8769G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011470 | |||||||
chr2:73011507 | G | A | 1 | a0001c0002t0001g0045 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.357+8732C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011507 | |||||||
chr2:73011748 | A | G | 1 | a0001c0001t0001g0102 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.357+8491T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011748 | |||||||
chr2:73011790 | A | G | 133 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(130): Show |
133 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.357+8449T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011790 | |||||||
chr2:73011872 | C | T | 1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.357+8367G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73011872 | |||||||
chr2:73012006 | C | T | 105 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(102): Show |
105 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(102): Show |
intron_variant | MODIFIER | c.357+8233G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012006 | |||||||
chr2:73012164 | T | C | 4 | a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0057 others(1): Show |
4 | HG00597.hp1 HG02074.hp1 HG02165.hp1 others(1): Show |
intron_variant | MODIFIER | c.357+8075A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012164 | |||||||
chr2:73012166 | C | A | 1 | a0001c0003t0006g0021 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.357+8073G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012166 | |||||||
chr2:73012269 | G | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.357+7970C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012269 | |||||||
chr2:73012486 | G | A | 1 | a0001c0002t0004g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.357+7753C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012486 | |||||||
chr2:73012551 | T | A | 1 | a0001c0001t0001g0161 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.357+7688A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012551 | |||||||
chr2:73012628 | TA | T | 22 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(19): Show |
22 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.357+7610delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012628 | |||||||
chr2:73012649 | A | AAC | 17 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 others(14): Show |
17 | HG00544.hp2 HG01255.hp2 HG01975.hp2 others(14): Show |
intron_variant | MODIFIER | c.357+7588_357+7589d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | A | AACAC | 14 | a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0112 others(11): Show |
15 | HG01099.hp1 HG01261.hp1 HG01978.hp2 others(12): Show |
intron_variant | MODIFIER | c.357+7586_357+7589d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | A | AACACAC | 7 | a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0002g0174 others(4): Show |
7 | HG01884.hp2 HG02074.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.357+7584_357+7589d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | A | AACACACA others(3): Show |
2 | a0001c0001t0002g0169 a0001c0001t0002g0177 |
2 | HG01169.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.357+7580_357+7589d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AAC | A | 36 | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0101 others(33): Show |
36 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(33): Show |
intron_variant | MODIFIER | c.357+7588_357+7589d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACAC | A | 52 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 others(49): Show |
52 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.357+7586_357+7589d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACAC | A | 46 | a0001c0001t0001g0063 a0001c0001t0002g0033 a0001c0001t0002g0090 others(43): Show |
46 | HG00280.hp2 HG00323.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.357+7584_357+7589d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(1): Show |
A | 22 | a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 others(19): Show |
22 | HG01243.hp2 HG02015.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.357+7582_357+7589d others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(3): Show |
A | 7 | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0167 others(4): Show |
7 | HG00597.hp2 HG02071.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.357+7580_357+7589d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(5): Show |
A | 8 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(5): Show |
8 | HG01099.hp2 HG01109.hp1 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.357+7578_357+7589d others(14): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(11): Show |
A | 1 | a0001c0001t0002g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.357+7572_357+7589d others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(15): Show |
A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.357+7568_357+7589d others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012649 | AACACACA others(21): Show |
A | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.357+7562_357+7589d others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012649 | |||||||
chr2:73012734 | T | C | 1 | a0001c0001t0004g0180 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.357+7505A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012734 | |||||||
chr2:73012828 | T | G | 1 | a0001c0002t0001g0216 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.357+7411A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012828 | |||||||
chr2:73012928 | C | T | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.357+7311G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73012928 | |||||||
chr2:73013035 | GAGA | G | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.357+7201_357+7203d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013035 | |||||||
chr2:73013406 | C | CGT | 37 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0109 others(34): Show |
37 | HG00099.hp1 HG00140.hp1 HG01070.hp1 others(34): Show |
intron_variant | MODIFIER | c.357+6831_357+6832d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013406 | C | CGTGT | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG01256.hp2 HG01361.hp2 others(29): Show |
intron_variant | MODIFIER | c.357+6829_357+6832d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013406 | C | CGTGTGT | 41 | a0001c0001t0001g0063 a0001c0001t0004g0180 a0001c0001t0014g0245 others(38): Show |
41 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(38): Show |
intron_variant | MODIFIER | c.357+6827_357+6832d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013406 | C | CGTGTGTG others(1): Show |
14 | a0001c0001t0002g0014 a0001c0001t0009g0013 a0001c0002t0001g0037 others(11): Show |
14 | HG00544.hp1 HG02145.hp2 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.357+6825_357+6832d others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013406 | C | CGTGTGTG others(3): Show |
7 | a0001c0001t0005g0015 a0001c0002t0001g0034 a0001c0002t0001g0036 others(4): Show |
7 | HG02451.hp2 HG02738.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.357+6823_357+6832d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013406 | CGT | C | 4 | a0001c0001t0001g0232 a0001c0001t0003g0241 a0001c0001t0005g0242 others(1): Show |
4 | HG01243.hp1 HG01884.hp2 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.357+6831_357+6832d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013406 | |||||||
chr2:73013444 | T | TGTGTGTG | 3 | a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0072 |
3 | HG01433.hp1 HG01981.hp2 NA18967.hp1 |
intron_variant | MODIFIER | c.357+6794_357+6795i others(9): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013444 | |||||||
chr2:73013444 | T | TGTGTGTG others(4): Show |
1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.357+6794_357+6795i others(13): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013444 | |||||||
chr2:73013526 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.357+6713C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013526 | |||||||
chr2:73013776 | G | A | 3 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 |
3 | HG02647.hp2 HG02818.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.357+6463C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73013776 | |||||||
chr2:73014167 | G | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.357+6072C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014167 | |||||||
chr2:73014282 | G | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.357+5957C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014282 | |||||||
chr2:73014311 | C | T | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.357+5928G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014311 | |||||||
chr2:73014355 | C | T | 1 | a0001c0001t0001g0127 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.357+5884G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014355 | |||||||
chr2:73014536 | T | C | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.357+5703A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014536 | |||||||
chr2:73014748 | T | TA | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.357+5490dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014748 | |||||||
chr2:73014752 | G | A | 1 | a0001c0002t0001g0197 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.357+5487C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73014752 | |||||||
chr2:73015081 | T | C | 1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.357+5158A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73015081 | |||||||
chr2:73015875 | C | T | 240 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(237): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.357+4364G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73015875 | |||||||
chr2:73015945 | GA | G | 5 | a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0005g0015 others(2): Show |
5 | HG02615.hp2 HG02647.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.357+4293delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73015945 | |||||||
chr2:73016087 | A | G | 2 | a0001c0001t0024g0097 a0001c0001t0025g0096 |
2 | HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.357+4152T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73016087 | |||||||
chr2:73016587 | C | T | 1 | a0001c0001t0001g0102 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.357+3652G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73016587 | |||||||
chr2:73016592 | C | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.357+3647G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73016592 | |||||||
chr2:73016620 | G | A | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.357+3619C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73016620 | |||||||
chr2:73016773 | A | C | 1 | a0001c0001t0002g0172 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.357+3466T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73016773 | |||||||
chr2:73017022 | C | T | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.357+3217G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017022 | |||||||
chr2:73017125 | C | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.357+3114G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017125 | |||||||
chr2:73017144 | T | C | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.357+3095A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017144 | |||||||
chr2:73017177 | GA | G | 29 | a0001c0001t0004g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 others(26): Show |
29 | HG00438.hp1 HG02071.hp2 HG02647.hp1 others(26): Show |
intron_variant | MODIFIER | c.357+3061delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017177 | |||||||
chr2:73017237 | C | T | 4 | a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 others(1): Show |
4 | HG01433.hp1 HG01975.hp1 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.357+3002G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017237 | |||||||
chr2:73017279 | G | A | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.357+2960C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017279 | |||||||
chr2:73017342 | T | C | 55 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(52): Show |
55 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.357+2897A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017342 | |||||||
chr2:73017705 | C | T | 1 | a0001c0001t0001g0135 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.357+2534G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017705 | |||||||
chr2:73017984 | G | A | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.357+2255C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73017984 | |||||||
chr2:73018902 | T | C | 2 | a0001c0001t0003g0182 a0001c0001t0027g0184 |
2 | HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.357+1337A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73018902 | |||||||
chr2:73019048 | T | C | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.357+1191A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019048 | |||||||
chr2:73019073 | A | C | 1 | a0001c0001t0001g0133 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.357+1166T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019073 | |||||||
chr2:73019413 | C | G | 2 | a0001c0001t0002g0014 a0001c0001t0009g0013 |
2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.357+826G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019413 | |||||||
chr2:73019453 | G | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.357+786C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019453 | |||||||
chr2:73019460 | G | A | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.357+779C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019460 | |||||||
chr2:73019467 | T | C | 112 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(109): Show |
112 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.357+772A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019467 | |||||||
chr2:73019515 | G | A | 1 | a0001c0002t0001g0072 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.357+724C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019515 | |||||||
chr2:73019718 | G | A | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.357+521C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019718 | |||||||
chr2:73019802 | C | T | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.357+437G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73019802 | |||||||
chr2:73020019 | A | C | 143 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(140): Show |
143 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.357+220T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73020019 | |||||||
chr2:73020021 | C | T | 7 | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0003t0006g0018 others(4): Show |
7 | HG01109.hp1 HG02280.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.357+218G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 6/13 | chr2 | 73020021 | |||||||
chr2:73020272 | C | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | splice_region_variant&intron_variant | LOW | c.332-8G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73020272 | |||||||
chr2:73020508 | C | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.332-244G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73020508 | |||||||
chr2:73020555 | A | G | 1 | a0001c0002t0004g0006 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.332-291T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73020555 | |||||||
chr2:73020938 | C | T | 1 | a0001c0002t0001g0213 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.332-674G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73020938 | |||||||
chr2:73020968 | C | T | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.332-704G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73020968 | |||||||
chr2:73021001 | A | G | 136 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.332-737T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021001 | |||||||
chr2:73021034 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.332-770G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021034 | |||||||
chr2:73021186 | T | A | 1 | a0001c0001t0001g0118 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.332-922A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021186 | |||||||
chr2:73021344 | T | C | 245 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(242): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.332-1080A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021344 | |||||||
chr2:73021456 | C | T | 64 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0095 others(61): Show |
64 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.331+1066G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021456 | |||||||
chr2:73021479 | G | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.331+1043C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021479 | |||||||
chr2:73021621 | T | C | 143 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(140): Show |
143 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.331+901A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021621 | |||||||
chr2:73021696 | C | A | 3 | a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0002g0038 |
3 | HG00544.hp1 NA18945.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.331+826G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73021696 | |||||||
chr2:73022033 | C | T | 1 | a0001c0002t0001g0051 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.331+489G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73022033 | |||||||
chr2:73022277 | C | A | 1 | a0001c0002t0002g0207 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.331+245G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73022277 | |||||||
chr2:73022288 | C | T | 2 | a0001c0001t0001g0134 a0001c0001t0001g0137 |
2 | HG00642.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.331+234G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73022288 | |||||||
chr2:73022297 | A | G | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.331+225T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 5/13 | chr2 | 73022297 | |||||||
chr2:73022955 | G | C | 2 | a0001c0001t0024g0097 a0001c0001t0025g0096 |
2 | HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.276+233C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 4/13 | chr2 | 73022955 | |||||||
chr2:73022981 | A | G | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.276+207T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 4/13 | chr2 | 73022981 | |||||||
chr2:73023039 | G | A | 5 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(2): Show |
5 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.276+149C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 4/13 | chr2 | 73023039 | |||||||
chr2:73023123 | G | C | 2 | a0001c0001t0024g0097 a0001c0001t0025g0096 |
2 | HG02895.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.276+65C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 4/13 | chr2 | 73023123 | |||||||
chr2:73023267 | A | G | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.250-53T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023267 | |||||||
chr2:73023325 | G | A | 23 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0002g0022 others(20): Show |
23 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.250-111C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023325 | |||||||
chr2:73023382 | G | T | 3 | a0001c0002t0001g0051 a0001c0002t0001g0078 a0001c0002t0022g0062 |
3 | HG00733.hp2 HG02300.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.250-168C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023382 | |||||||
chr2:73023385 | G | A | 1 | a0001c0001t0001g0155 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.250-171C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023385 | |||||||
chr2:73023450 | A | G | 1 | a0001c0002t0012g0026 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.250-236T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023450 | |||||||
chr2:73023530 | G | C | 1 | a0001c0002t0001g0236 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.250-316C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023530 | |||||||
chr2:73023585 | A | G | 98 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(95): Show |
98 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(95): Show |
intron_variant | MODIFIER | c.250-371T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023585 | |||||||
chr2:73023611 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.250-397C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023611 | |||||||
chr2:73023634 | T | C | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.250-420A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023634 | |||||||
chr2:73023815 | G | A | 1 | a0001c0010t0007g0246 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.250-601C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023815 | |||||||
chr2:73023910 | G | A | 130 | a0001c0001t0001g0063 a0001c0001t0002g0014 a0001c0001t0002g0033 others(127): Show |
130 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.250-696C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73023910 | |||||||
chr2:73024003 | C | T | 1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.250-789G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024003 | |||||||
chr2:73024021 | G | A | 2 | a0001c0001t0002g0162 a0001c0002t0001g0151 |
2 | HG01070.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.250-807C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024021 | |||||||
chr2:73024171 | G | A | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.250-957C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024171 | |||||||
chr2:73024172 | C | T | 1 | a0001c0001t0001g0137 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.250-958G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024172 | |||||||
chr2:73024216 | G | T | 1 | a0001c0002t0002g0069 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.250-1002C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024216 | |||||||
chr2:73024312 | A | G | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.250-1098T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024312 | |||||||
chr2:73024326 | C | A | 1 | a0001c0003t0017g0023 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.250-1112G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024326 | |||||||
chr2:73024354 | T | C | 1 | a0001c0002t0001g0049 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.250-1140A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024354 | |||||||
chr2:73024371 | G | A | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.250-1157C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024371 | |||||||
chr2:73024393 | A | C | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.250-1179T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024393 | |||||||
chr2:73024411 | C | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.250-1197G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73024411 | |||||||
chr2:73025158 | C | A | 106 | a0001c0001t0001g0063 a0001c0001t0001g0127 a0001c0001t0002g0014 others(103): Show |
106 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.250-1944G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025158 | |||||||
chr2:73025206 | C | T | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.250-1992G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025206 | |||||||
chr2:73025210 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.250-1996G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025210 | |||||||
chr2:73025323 | A | C | 136 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.250-2109T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025323 | |||||||
chr2:73025413 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.250-2199G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025413 | |||||||
chr2:73025500 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.250-2286C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025500 | |||||||
chr2:73025503 | C | T | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.250-2289G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025503 | |||||||
chr2:73025670 | G | A | 64 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0095 others(61): Show |
64 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.250-2456C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025670 | |||||||
chr2:73025884 | A | C | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.250-2670T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025884 | |||||||
chr2:73025970 | T | C | 1 | a0001c0002t0001g0147 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.250-2756A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025970 | |||||||
chr2:73025985 | C | G | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.250-2771G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73025985 | |||||||
chr2:73026068 | C | A | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.250-2854G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026068 | |||||||
chr2:73026125 | G | T | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.250-2911C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026125 | |||||||
chr2:73026126 | C | CTTTTTTT | 99 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(96): Show |
99 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(96): Show |
intron_variant | MODIFIER | c.250-2919_250-2913d others(9): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026126 | |||||||
chr2:73026126 | C | CTTTTTTT others(1): Show |
28 | a0001c0001t0002g0014 a0001c0001t0005g0015 a0001c0002t0001g0034 others(25): Show |
28 | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(25): Show |
intron_variant | MODIFIER | c.250-2920_250-2913d others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026126 | |||||||
chr2:73026126 | C | T | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.250-2912G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026126 | |||||||
chr2:73026138 | C | T | 136 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.250-2924G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026138 | |||||||
chr2:73026158 | T | A | 1 | a0001c0001t0019g0189 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.250-2944A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026158 | |||||||
chr2:73026166 | C | T | 1 | a0001c0001t0002g0163 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.250-2952G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026166 | |||||||
chr2:73026446 | G | T | 3 | a0001c0001t0010g0193 a0001c0001t0021g0010 a0001c0004t0007g0192 |
3 | HG01361.hp2 HG02615.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.250-3232C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026446 | |||||||
chr2:73026786 | T | C | 1 | a0001c0001t0005g0015 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.250-3572A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026786 | |||||||
chr2:73026851 | C | G | 3 | a0001c0002t0001g0051 a0001c0002t0001g0078 a0001c0002t0022g0062 |
3 | HG00733.hp2 HG02300.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.250-3637G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026851 | |||||||
chr2:73026959 | T | C | 1 | a0001c0002t0001g0218 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.250-3745A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73026959 | |||||||
chr2:73027067 | T | TA | 35 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(32): Show |
35 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(32): Show |
intron_variant | MODIFIER | c.250-3854dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027067 | |||||||
chr2:73027086 | G | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.250-3872C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027086 | |||||||
chr2:73027164 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.250-3950C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027164 | |||||||
chr2:73027285 | C | T | 1 | a0001c0001t0001g0119 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.250-4071G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027285 | |||||||
chr2:73027590 | A | T | 8 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(5): Show |
8 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.250-4376T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027590 | |||||||
chr2:73027624 | G | C | 132 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(129): Show |
132 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.250-4410C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027624 | |||||||
chr2:73027698 | C | T | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.250-4484G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027698 | |||||||
chr2:73027719 | G | C | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.250-4505C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027719 | |||||||
chr2:73027771 | C | T | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.250-4557G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027771 | |||||||
chr2:73027805 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.250-4591C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73027805 | |||||||
chr2:73028094 | A | G | 3 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0023g0237 |
3 | HG03209.hp1 HG03486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.250-4880T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028094 | |||||||
chr2:73028210 | T | C | 1 | a0001c0001t0001g0106 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.250-4996A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028210 | |||||||
chr2:73028266 | T | C | 1 | a0001c0002t0004g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.250-5052A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028266 | |||||||
chr2:73028319 | C | T | 1 | a0001c0001t0001g0098 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.250-5105G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028319 | |||||||
chr2:73028355 | C | T | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.250-5141G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028355 | |||||||
chr2:73028533 | C | T | 13 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(10): Show |
13 | HG00738.hp2 HG01884.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.250-5319G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028533 | |||||||
chr2:73028643 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.250-5429C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028643 | |||||||
chr2:73028823 | T | C | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.250-5609A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73028823 | |||||||
chr2:73029279 | C | G | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.250-6065G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73029279 | |||||||
chr2:73029409 | G | A | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.250-6195C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73029409 | |||||||
chr2:73029429 | G | GT | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.250-6216dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73029429 | |||||||
chr2:73029488 | C | A | 1 | a0001c0001t0001g0112 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.250-6274G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73029488 | |||||||
chr2:73029987 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.250-6773C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73029987 | |||||||
chr2:73030115 | C | G | 54 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.250-6901G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030115 | |||||||
chr2:73030179 | G | A | 4 | a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
4 | HG00741.hp2 HG01123.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.250-6965C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030179 | |||||||
chr2:73030493 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.250-7279C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030493 | |||||||
chr2:73030560 | T | C | 1 | a0001c0008t0001g0113 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.250-7346A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030560 | |||||||
chr2:73030655 | C | T | 5 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(2): Show |
5 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.250-7441G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030655 | |||||||
chr2:73030677 | C | CT | 136 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(133): Show |
136 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.250-7464_250-7463i others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030677 | |||||||
chr2:73030709 | A | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.250-7495T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030709 | |||||||
chr2:73030848 | A | T | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.250-7634T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030848 | |||||||
chr2:73030996 | C | CAAAAATA others(317): Show |
2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.250-7783_250-7782i others(326): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73030996 | |||||||
chr2:73031456 | AC | A | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.250-8243delG | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031456 | |||||||
chr2:73031553 | G | C | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.250-8339C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031553 | |||||||
chr2:73031749 | T | C | 1 | a0001c0002t0001g0082 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.250-8535A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031749 | |||||||
chr2:73031753 | C | G | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.250-8539G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031753 | |||||||
chr2:73031759 | A | G | 104 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(101): Show |
104 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(101): Show |
intron_variant | MODIFIER | c.250-8545T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031759 | |||||||
chr2:73031951 | G | A | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.250-8737C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73031951 | |||||||
chr2:73032026 | G | C | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.250-8812C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032026 | |||||||
chr2:73032162 | T | TCATCCTA others(22): Show |
7 | a0001c0001t0002g0002 a0001c0001t0002g0169 a0001c0001t0002g0174 others(4): Show |
8 | HG01169.hp1 HG02451.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.249+8663_249+8691d others(31): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032162 | |||||||
chr2:73032217 | G | A | 2 | a0001c0001t0001g0127 a0001c0008t0001g0113 |
2 | HG01981.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.249+8637C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032217 | |||||||
chr2:73032387 | A | C | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.249+8467T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032387 | |||||||
chr2:73032435 | A | G | 54 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.249+8419T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032435 | |||||||
chr2:73032473 | G | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.249+8381C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032473 | |||||||
chr2:73032858 | C | A | 1 | a0001c0002t0001g0213 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.249+7996G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73032858 | |||||||
chr2:73033101 | G | A | 1 | a0001c0001t0002g0169 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.249+7753C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73033101 | |||||||
chr2:73033562 | G | A | 3 | a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0003g0191 |
3 | HG02258.hp1 HG02622.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.249+7292C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73033562 | |||||||
chr2:73033909 | C | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.249+6945G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73033909 | |||||||
chr2:73033946 | C | A | 53 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(50): Show |
53 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(50): Show |
intron_variant | MODIFIER | c.249+6908G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73033946 | |||||||
chr2:73034051 | C | T | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.249+6803G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034051 | |||||||
chr2:73034070 | T | C | 2 | a0001c0001t0003g0182 a0001c0001t0027g0184 |
2 | HG02976.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.249+6784A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034070 | |||||||
chr2:73034177 | C | G | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.249+6677G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034177 | |||||||
chr2:73034306 | C | G | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG01192.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.249+6548G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034306 | |||||||
chr2:73034515 | G | A | 13 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(10): Show |
13 | HG00738.hp2 HG01884.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.249+6339C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034515 | |||||||
chr2:73034568 | C | T | 3 | a0001c0002t0001g0197 a0001c0002t0014g0198 a0001c0002t0018g0199 |
3 | HG00280.hp2 HG00323.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.249+6286G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034568 | |||||||
chr2:73034721 | A | G | 113 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(110): Show |
113 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.249+6133T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034721 | |||||||
chr2:73034887 | T | C | 1 | a0001c0002t0001g0073 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.249+5967A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73034887 | |||||||
chr2:73035083 | T | C | 11 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(8): Show |
11 | HG01243.hp1 HG02145.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.249+5771A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035083 | |||||||
chr2:73035112 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.249+5742C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035112 | |||||||
chr2:73035283 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.249+5571T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035283 | |||||||
chr2:73035493 | C | CT | 16 | a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0115 others(13): Show |
16 | HG00642.hp2 HG00733.hp1 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.249+5360dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035493 | |||||||
chr2:73035493 | CT | C | 36 | a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 others(33): Show |
36 | HG00323.hp1 HG00735.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.249+5360delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035493 | |||||||
chr2:73035652 | A | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.249+5202T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035652 | |||||||
chr2:73035798 | C | T | 17 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0169 others(14): Show |
18 | HG01169.hp1 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.249+5056G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035798 | |||||||
chr2:73035977 | G | T | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.249+4877C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73035977 | |||||||
chr2:73036060 | C | T | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.249+4794G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73036060 | |||||||
chr2:73036067 | A | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.249+4787T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73036067 | |||||||
chr2:73036691 | A | T | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.249+4163T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73036691 | |||||||
chr2:73037009 | G | C | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.249+3845C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037009 | |||||||
chr2:73037105 | C | T | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.249+3749G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037105 | |||||||
chr2:73037110 | G | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.249+3744C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037110 | |||||||
chr2:73037111 | T | C | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.249+3743A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037111 | |||||||
chr2:73037121 | C | T | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.249+3733G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037121 | |||||||
chr2:73037167 | C | A | 1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.249+3687G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037167 | |||||||
chr2:73037198 | T | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.249+3656A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037198 | |||||||
chr2:73037235 | A | G | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.249+3619T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73037235 | |||||||
chr2:73038121 | A | G | 1 | a0001c0002t0001g0083 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.249+2733T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038121 | |||||||
chr2:73038141 | C | T | 2 | a0001c0001t0001g0110 a0001c0001t0003g0104 |
2 | HG00323.hp1 HG01070.hp2 |
intron_variant | MODIFIER | c.249+2713G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038141 | |||||||
chr2:73038181 | T | C | 133 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(130): Show |
133 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.249+2673A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038181 | |||||||
chr2:73038199 | T | C | 8 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(5): Show |
8 | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.249+2655A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038199 | |||||||
chr2:73038486 | A | T | 1 | a0001c0001t0001g0146 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.249+2368T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038486 | |||||||
chr2:73038535 | G | T | 1 | a0001c0001t0001g0120 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.249+2319C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038535 | |||||||
chr2:73038878 | C | T | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.249+1976G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038878 | |||||||
chr2:73038972 | G | A | 108 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(105): Show |
108 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(105): Show |
intron_variant | MODIFIER | c.249+1882C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038972 | |||||||
chr2:73038988 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.249+1866C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73038988 | |||||||
chr2:73039038 | C | G | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.249+1816G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039038 | |||||||
chr2:73039047 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.249+1807G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039047 | |||||||
chr2:73039065 | T | C | 1 | a0001c0002t0001g0083 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.249+1789A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039065 | |||||||
chr2:73039178 | T | C | 3 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 |
3 | HG02630.hp2 HG03041.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.249+1676A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039178 | |||||||
chr2:73039198 | G | C | 1 | a0001c0002t0001g0034 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.249+1656C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039198 | |||||||
chr2:73039293 | T | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.249+1561A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039293 | |||||||
chr2:73039298 | T | C | 240 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(237): Show |
241 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
intron_variant | MODIFIER | c.249+1556A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039298 | |||||||
chr2:73039362 | T | C | 64 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0095 others(61): Show |
64 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(61): Show |
intron_variant | MODIFIER | c.249+1492A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039362 | |||||||
chr2:73039479 | G | A | 1 | a0001c0002t0002g0209 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.249+1375C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039479 | |||||||
chr2:73039517 | A | G | 1 | a0001c0001t0001g0135 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.249+1337T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039517 | |||||||
chr2:73039729 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.249+1125C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039729 | |||||||
chr2:73039776 | C | CTATTT | 155 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(152): Show |
155 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
intron_variant | MODIFIER | c.249+1073_249+1077d others(7): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039776 | |||||||
chr2:73039776 | C | CTATTTTA others(3): Show |
11 | a0001c0001t0001g0119 a0001c0001t0001g0141 a0001c0001t0001g0166 others(8): Show |
11 | HG00438.hp1 HG01169.hp2 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.249+1068_249+1077d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039776 | |||||||
chr2:73039776 | C | CTATTTTA others(8): Show |
7 | a0001c0001t0002g0033 a0001c0001t0003g0008 a0001c0001t0011g0009 others(4): Show |
7 | HG02145.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.249+1063_249+1077d others(17): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039776 | |||||||
chr2:73039776 | C | CTATTTTA others(18): Show |
1 | a0001c0001t0002g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.249+1053_249+1077d others(27): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039776 | |||||||
chr2:73039776 | CTATTT | C | 31 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(28): Show |
31 | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(28): Show |
intron_variant | MODIFIER | c.249+1073_249+1077d others(7): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039776 | |||||||
chr2:73039972 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.249+882C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73039972 | |||||||
chr2:73040014 | T | G | 1 | a0001c0001t0025g0096 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.249+840A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040014 | |||||||
chr2:73040063 | G | A | 54 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.249+791C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040063 | |||||||
chr2:73040178 | T | A | 108 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(105): Show |
108 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(105): Show |
intron_variant | MODIFIER | c.249+676A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040178 | |||||||
chr2:73040192 | A | C | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.249+662T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040192 | |||||||
chr2:73040199 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.249+655C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040199 | |||||||
chr2:73040374 | C | T | 1 | a0001c0001t0001g0118 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.249+480G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040374 | |||||||
chr2:73040395 | C | T | 1 | a0001c0001t0004g0203 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.249+459G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040395 | |||||||
chr2:73040608 | G | A | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.249+246C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040608 | |||||||
chr2:73040697 | C | G | 1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.249+157G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040697 | |||||||
chr2:73040759 | C | T | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.249+95G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 3/13 | chr2 | 73040759 | |||||||
chr2:73040973 | G | A | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.172-42C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73040973 | |||||||
chr2:73040997 | T | C | 1 | a0001c0002t0001g0217 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.172-66A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73040997 | |||||||
chr2:73041417 | C | T | 24 | a0001c0002t0001g0086 a0001c0002t0002g0022 a0001c0002t0002g0029 others(21): Show |
24 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.172-486G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73041417 | |||||||
chr2:73041428 | A | C | 3 | a0001c0002t0003g0020 a0001c0003t0006g0019 a0001c0003t0006g0021 |
3 | HG02572.hp2 HG02818.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.172-497T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73041428 | |||||||
chr2:73041534 | A | G | 3 | a0001c0002t0001g0197 a0001c0002t0014g0198 a0001c0002t0018g0199 |
3 | HG00280.hp2 HG00323.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.172-603T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73041534 | |||||||
chr2:73041797 | G | A | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG01192.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.172-866C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73041797 | |||||||
chr2:73041800 | T | C | 54 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.172-869A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73041800 | |||||||
chr2:73042063 | A | T | 107 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(104): Show |
107 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(104): Show |
intron_variant | MODIFIER | c.172-1132T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042063 | |||||||
chr2:73042087 | G | C | 133 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(130): Show |
133 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.172-1156C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042087 | |||||||
chr2:73042310 | T | C | 107 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(104): Show |
107 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(104): Show |
intron_variant | MODIFIER | c.172-1379A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042310 | |||||||
chr2:73042342 | T | C | 133 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(130): Show |
133 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.172-1411A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042342 | |||||||
chr2:73042447 | T | C | 54 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(51): Show |
54 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(51): Show |
intron_variant | MODIFIER | c.172-1516A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042447 | |||||||
chr2:73042977 | A | G | 53 | a0001c0001t0001g0063 a0001c0002t0001g0034 a0001c0002t0001g0035 others(50): Show |
53 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(50): Show |
intron_variant | MODIFIER | c.172-2046T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73042977 | |||||||
chr2:73043016 | T | C | 3 | a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0002t0001g0167 |
3 | HG00597.hp2 HG02165.hp2 NA18955.hp1 |
intron_variant | MODIFIER | c.172-2085A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043016 | |||||||
chr2:73043199 | A | T | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.172-2268T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043199 | |||||||
chr2:73043436 | C | T | 8 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(5): Show |
8 | HG01099.hp2 HG01261.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.172-2505G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043436 | |||||||
chr2:73043440 | G | A | 1 | a0001c0001t0001g0127 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.172-2509C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043440 | |||||||
chr2:73043467 | T | C | 26 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0001g0086 others(23): Show |
26 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.172-2536A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043467 | |||||||
chr2:73043600 | C | G | 1 | a0001c0001t0008g0157 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.172-2669G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043600 | |||||||
chr2:73043816 | T | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.172-2885A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043816 | |||||||
chr2:73043884 | C | T | 105 | a0001c0001t0001g0063 a0001c0001t0001g0238 a0001c0001t0001g0239 others(102): Show |
105 | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(102): Show |
intron_variant | MODIFIER | c.172-2953G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73043884 | |||||||
chr2:73044070 | C | G | 1 | a0001c0002t0004g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.172-3139G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044070 | |||||||
chr2:73044186 | C | T | 2 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | HG02083.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.172-3255G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044186 | |||||||
chr2:73044246 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.172-3315C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044246 | |||||||
chr2:73044473 | A | G | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.172-3542T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044473 | |||||||
chr2:73044597 | T | G | 26 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0001g0086 others(23): Show |
26 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.172-3666A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044597 | |||||||
chr2:73044698 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.172-3767C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044698 | |||||||
chr2:73044745 | A | G | 140 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0238 others(137): Show |
140 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.172-3814T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73044745 | |||||||
chr2:73045066 | A | G | 1 | a0001c0002t0003g0230 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.172-4135T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045066 | |||||||
chr2:73045349 | A | C | 8 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(5): Show |
8 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.172-4418T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045349 | |||||||
chr2:73045436 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.172-4505C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045436 | |||||||
chr2:73045706 | C | T | 1 | a0001c0001t0002g0142 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.172-4775G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045706 | |||||||
chr2:73045726 | C | T | 135 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(132): Show |
135 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.172-4795G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045726 | |||||||
chr2:73045847 | T | C | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.172-4916A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045847 | |||||||
chr2:73045930 | C | T | 4 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 others(1): Show |
4 | HG00323.hp1 HG00738.hp1 HG01070.hp2 others(1): Show |
intron_variant | MODIFIER | c.172-4999G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73045930 | |||||||
chr2:73046034 | G | A | 1 | a0001c0004t0005g0244 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.172-5103C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046034 | |||||||
chr2:73046057 | A | AAAAACAA others(11): Show |
75 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(72): Show |
75 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(72): Show |
intron_variant | MODIFIER | c.172-5127_172-5126i others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046057 | |||||||
chr2:73046123 | T | C | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.172-5192A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046123 | |||||||
chr2:73046408 | C | CA | 122 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(119): Show |
122 | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.172-5478dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046408 | |||||||
chr2:73046462 | A | G | 5 | a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0002t0010g0233 others(2): Show |
5 | HG01243.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.172-5531T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046462 | |||||||
chr2:73046475 | CCTAT | C | 7 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(4): Show |
7 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.172-5548_172-5545d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046475 | |||||||
chr2:73046495 | G | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.172-5564C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046495 | |||||||
chr2:73046704 | T | C | 2 | a0001c0002t0001g0212 a0001c0002t0001g0214 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.172-5773A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046704 | |||||||
chr2:73046926 | G | A | 3 | a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0215 |
3 | HG02071.hp2 NA19010.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.172-5995C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73046926 | |||||||
chr2:73047082 | G | C | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.172-6151C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047082 | |||||||
chr2:73047173 | G | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.172-6242C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047173 | |||||||
chr2:73047219 | TA | T | 15 | a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0002g0163 others(12): Show |
15 | HG00099.hp1 HG00735.hp1 HG02015.hp2 others(12): Show |
intron_variant | MODIFIER | c.172-6289delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047219 | TAAA | T | 16 | a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0078 others(13): Show |
16 | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(13): Show |
intron_variant | MODIFIER | c.172-6291_172-6289d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047219 | TAAAA | T | 14 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0169 others(11): Show |
15 | HG00140.hp1 HG00733.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.172-6292_172-6289d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047219 | TAAAAA | T | 22 | a0001c0001t0002g0175 a0001c0002t0001g0035 a0001c0002t0001g0036 others(19): Show |
22 | HG00438.hp2 HG00597.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.172-6293_172-6289d others(7): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047219 | TAAAAAAA others(3): Show |
T | 2 | a0001c0002t0001g0215 a0001c0002t0001g0218 |
2 | HG03669.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.172-6298_172-6289d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047219 | TAAAAAAA others(5): Show |
T | 23 | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 others(20): Show |
23 | HG00438.hp1 HG02071.hp2 HG02647.hp1 others(20): Show |
intron_variant | MODIFIER | c.172-6300_172-6289d others(14): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047219 | |||||||
chr2:73047232 | AAAAAAAA others(16): Show |
A | 2 | a0001c0002t0002g0047 a0001c0002t0020g0060 |
2 | NA18959.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.172-6324_172-6302d others(25): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047232 | |||||||
chr2:73047233 | A | AT | 6 | a0001c0002t0001g0049 a0001c0002t0002g0029 a0001c0002t0002g0030 others(3): Show |
6 | HG01109.hp1 HG02280.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.172-6303_172-6302i others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047233 | |||||||
chr2:73047233 | A | ATAT | 4 | a0001c0002t0003g0031 a0001c0002t0008g0028 a0001c0003t0006g0019 others(1): Show |
4 | HG01261.hp2 HG02572.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.172-6303_172-6302i others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047233 | |||||||
chr2:73047233 | A | T | 1 | a0001c0002t0003g0020 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.172-6302T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047233 | |||||||
chr2:73047233 | AAAAAAAA others(7): Show |
A | 2 | a0001c0001t0001g0238 a0001c0001t0001g0240 |
2 | HG03017.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.172-6316_172-6303d others(16): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047233 | |||||||
chr2:73047233 | AAAAAAAA others(9): Show |
A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.172-6318_172-6303d others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047233 | |||||||
chr2:73047234 | AAAAAAAA others(6): Show |
A | 2 | a0001c0002t0001g0212 a0001c0002t0001g0214 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.172-6316_172-6304d others(15): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047234 | |||||||
chr2:73047235 | A | T | 21 | a0001c0001t0001g0063 a0001c0002t0001g0044 a0001c0002t0001g0048 others(18): Show |
21 | HG01109.hp1 HG01243.hp1 HG01261.hp2 others(18): Show |
intron_variant | MODIFIER | c.172-6304T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047235 | |||||||
chr2:73047235 | AAAAAAAA others(5): Show |
A | 4 | a0001c0001t0004g0203 a0001c0002t0001g0086 a0001c0002t0002g0087 others(1): Show |
4 | HG02572.hp1 HG02717.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.172-6316_172-6305d others(14): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047235 | |||||||
chr2:73047235 | AAAAAAAA others(7): Show |
A | 1 | a0001c0001t0001g0239 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.172-6318_172-6305d others(16): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047235 | |||||||
chr2:73047235 | AAAAAAAA others(9): Show |
A | 2 | a0001c0002t0004g0006 a0001c0014t0003g0005 |
2 | HG02145.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.172-6320_172-6305d others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047235 | |||||||
chr2:73047236 | AAAAAAAA others(8): Show |
A | 1 | a0001c0001t0016g0248 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.172-6320_172-6306d others(17): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047236 | |||||||
chr2:73047237 | A | T | 37 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(34): Show |
37 | HG00099.hp1 HG00544.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.172-6306T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047237 | |||||||
chr2:73047237 | AAAAAAAA others(9): Show |
A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.172-6322_172-6307d others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047237 | |||||||
chr2:73047238 | AAAAAAAA others(6): Show |
A | 1 | a0001c0001t0009g0013 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.172-6320_172-6308d others(15): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047238 | |||||||
chr2:73047238 | AAAAAAAA others(8): Show |
A | 8 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0015 others(5): Show |
8 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.172-6322_172-6308d others(17): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047238 | |||||||
chr2:73047238 | AAAAAAAA others(10): Show |
A | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.172-6324_172-6308d others(19): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047238 | |||||||
chr2:73047239 | A | T | 57 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(54): Show |
57 | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(54): Show |
intron_variant | MODIFIER | c.172-6308T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047239 | |||||||
chr2:73047240 | AAAAAAAT others(4): Show |
A | 1 | a0001c0001t0024g0097 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.172-6320_172-6310d others(13): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047240 | |||||||
chr2:73047240 | AAAAAAAT others(6): Show |
A | 1 | a0001c0001t0002g0014 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.172-6322_172-6310d others(15): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047240 | |||||||
chr2:73047241 | A | AATATATA others(25): Show |
1 | a0001c0008t0001g0113 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.172-6311_172-6310i others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047241 | |||||||
chr2:73047241 | A | T | 77 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(74): Show |
77 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
intron_variant | MODIFIER | c.172-6310T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047241 | |||||||
chr2:73047241 | AAAAAATA others(3): Show |
A | 1 | a0001c0001t0025g0096 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.172-6320_172-6311d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047241 | |||||||
chr2:73047243 | A | AATATATA others(23): Show |
1 | a0001c0001t0002g0156 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.172-6313_172-6312i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047243 | A | AT | 3 | a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0142 |
3 | HG00099.hp2 HG01261.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.172-6313_172-6312i others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047243 | A | ATATATAT others(22): Show |
1 | a0001c0001t0001g0103 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.172-6313_172-6312i others(31): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047243 | A | C | 1 | a0001c0008t0001g0113 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.172-6312T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047243 | A | T | 90 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(87): Show |
90 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.172-6312T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047243 | AAAAT | A | 9 | a0001c0001t0002g0007 a0001c0001t0002g0172 a0001c0001t0002g0173 others(6): Show |
9 | HG01361.hp2 HG02258.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.172-6316_172-6313d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047243 | |||||||
chr2:73047245 | A | AAAATATA others(27): Show |
1 | a0001c0001t0001g0227 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.172-6315_172-6314i others(36): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047245 | |||||||
chr2:73047245 | A | AAATATAT others(24): Show |
3 | a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0134 |
3 | HG00642.hp1 HG02074.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.172-6315_172-6314i others(33): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047245 | |||||||
chr2:73047245 | A | AT | 4 | a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0159 others(1): Show |
4 | HG00741.hp2 HG01109.hp2 HG02602.hp1 others(1): Show |
intron_variant | MODIFIER | c.172-6315_172-6314i others(3): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047245 | |||||||
chr2:73047245 | A | C | 3 | a0001c0001t0001g0103 a0001c0001t0002g0156 a0001c0008t0001g0113 |
3 | HG01981.hp1 NA18993.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.172-6314T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047245 | |||||||
chr2:73047245 | A | T | 135 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(132): Show |
135 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.172-6314T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047245 | |||||||
chr2:73047247 | T | A | 5 | a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0131 others(2): Show |
5 | HG01081.hp1 HG01123.hp1 HG01255.hp2 others(2): Show |
intron_variant | MODIFIER | c.172-6316A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047247 | T | C | 4 | a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 others(1): Show |
4 | HG00642.hp1 HG02074.hp2 NA18993.hp1 others(1): Show |
intron_variant | MODIFIER | c.172-6316A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047247 | T | TATATATA others(21): Show |
1 | a0001c0001t0026g0117 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.172-6317_172-6316i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047247 | T | TATATATA others(23): Show |
1 | a0001c0001t0001g0129 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.172-6317_172-6316i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047247 | T | TATATATA others(23): Show |
1 | a0001c0001t0001g0120 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.172-6317_172-6316i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047247 | T | TATATATA others(25): Show |
1 | a0001c0001t0002g0043 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.172-6317_172-6316i others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047247 | |||||||
chr2:73047249 | T | TATATATA others(19): Show |
4 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0158 others(1): Show |
4 | HG01169.hp2 HG02258.hp2 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.172-6319_172-6318i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047249 | T | TATATATA others(21): Show |
7 | a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 others(4): Show |
7 | HG00735.hp2 HG01109.hp2 HG02300.hp1 others(4): Show |
intron_variant | MODIFIER | c.172-6319_172-6318i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047249 | T | TATATATA others(23): Show |
1 | a0001c0001t0001g0116 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.172-6319_172-6318i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047249 | T | TATATATA others(23): Show |
2 | a0001c0001t0001g0127 a0001c0001t0001g0146 |
2 | HG01255.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.172-6319_172-6318i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047249 | T | TATATATA others(25): Show |
1 | a0001c0001t0001g0126 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.172-6350_172-6319d others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047249 | T | TATATATA others(29): Show |
1 | a0001c0001t0001g0108 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.172-6319_172-6318i others(38): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047249 | |||||||
chr2:73047251 | T | TATATATA others(17): Show |
1 | a0001c0001t0001g0095 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.172-6321_172-6320i others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(19): Show |
10 | a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show |
10 | HG00597.hp2 HG00741.hp2 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.172-6321_172-6320i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(21): Show |
2 | a0001c0001t0001g0164 a0001c0001t0002g0042 |
2 | NA18747.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.172-6321_172-6320i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(23): Show |
1 | a0001c0001t0001g0115 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.172-6321_172-6320i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(21): Show |
4 | a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0166 others(1): Show |
4 | HG00280.hp1 HG01975.hp2 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.172-6321_172-6320i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(23): Show |
1 | a0001c0001t0001g0125 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.172-6321_172-6320i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(29): Show |
1 | a0001c0001t0001g0107 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.172-6321_172-6320i others(38): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047251 | T | TATATATA others(35): Show |
1 | a0001c0001t0003g0104 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.172-6321_172-6320i others(44): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047251 | |||||||
chr2:73047253 | T | TATATATA others(17): Show |
9 | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0141 others(6): Show |
9 | HG00140.hp2 HG00544.hp2 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.172-6323_172-6322i others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047253 | T | TATATATA others(71): Show |
1 | a0001c0001t0001g0101 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.172-6323_172-6322i others(80): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047253 | T | TATATATA others(45): Show |
2 | a0001c0001t0001g0102 a0001c0001t0008g0228 |
2 | NA18954.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.172-6323_172-6322i others(54): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047253 | T | TATATATA others(47): Show |
2 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | HG01261.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.172-6323_172-6322i others(56): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047253 | T | TATATATA others(25): Show |
1 | a0001c0001t0001g0106 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.172-6323_172-6322i others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047253 | T | TATATATA others(29): Show |
1 | a0001c0001t0001g0105 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.172-6323_172-6322i others(38): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047253 | |||||||
chr2:73047255 | T | TATATATA others(15): Show |
1 | a0001c0001t0001g0152 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.172-6325_172-6324i others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047255 | |||||||
chr2:73047261 | T | C | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.172-6330A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047261 | |||||||
chr2:73047263 | T | C | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.172-6332A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047263 | |||||||
chr2:73047265 | T | C | 1 | a0001c0002t0011g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.172-6334A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047265 | |||||||
chr2:73047267 | T | C | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.172-6336A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047267 | |||||||
chr2:73047269 | T | C | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0002g0207 |
3 | HG02572.hp1 HG03098.hp1 NA18998.hp1 |
intron_variant | MODIFIER | c.172-6338A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047269 | |||||||
chr2:73047271 | T | C | 10 | a0001c0001t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0197 others(7): Show |
10 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(7): Show |
intron_variant | MODIFIER | c.172-6340A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047271 | |||||||
chr2:73047273 | T | C | 52 | a0001c0001t0004g0203 a0001c0001t0009g0013 a0001c0002t0001g0086 others(49): Show |
52 | HG00438.hp1 HG00735.hp1 HG01099.hp2 others(49): Show |
intron_variant | MODIFIER | c.172-6342A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047273 | |||||||
chr2:73047275 | T | C | 127 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(124): Show |
127 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.172-6344A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047275 | |||||||
chr2:73047277 | C | T | 10 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(7): Show |
10 | HG00140.hp2 HG00323.hp1 HG00642.hp2 others(7): Show |
intron_variant | MODIFIER | c.172-6346G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047277 | |||||||
chr2:73047279 | C | T | 4 | a0001c0001t0001g0110 a0001c0002t0001g0086 a0001c0002t0002g0087 others(1): Show |
4 | HG01070.hp2 HG02572.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.172-6348G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047279 | |||||||
chr2:73047281 | C | T | 32 | a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0004g0203 others(29): Show |
32 | HG00438.hp1 HG00642.hp1 HG01070.hp2 others(29): Show |
intron_variant | MODIFIER | c.172-6350G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047281 | |||||||
chr2:73047281 | CAT | C | 10 | a0001c0001t0001g0227 a0001c0001t0002g0181 a0001c0001t0004g0186 others(7): Show |
10 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.172-6352_172-6351d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047281 | |||||||
chr2:73047283 | T | C | 12 | a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0106 others(9): Show |
12 | HG00140.hp1 HG00323.hp1 HG00642.hp2 others(9): Show |
intron_variant | MODIFIER | c.172-6352A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047283 | |||||||
chr2:73047283 | T | TATATATA others(19): Show |
1 | a0001c0002t0001g0151 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.172-6353_172-6352i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047283 | |||||||
chr2:73047283 | T | TATATATA others(23): Show |
2 | a0001c0001t0001g0109 a0001c0001t0002g0162 |
2 | HG01978.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.172-6353_172-6352i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047283 | |||||||
chr2:73047285 | T | C | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.172-6354A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047285 | |||||||
chr2:73047285 | T | TACACACA others(31): Show |
1 | a0001c0001t0001g0110 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.172-6355_172-6354i others(40): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047285 | |||||||
chr2:73047297 | T | A | 78 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(75): Show |
78 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.172-6366A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047297 | |||||||
chr2:73047300 | A | AAT | 50 | a0001c0001t0001g0081 a0001c0001t0001g0238 a0001c0001t0001g0239 others(47): Show |
50 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(47): Show |
intron_variant | MODIFIER | c.172-6371_172-6370d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047300 | |||||||
chr2:73047300 | A | T | 80 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(77): Show |
80 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.172-6369T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047300 | |||||||
chr2:73047307 | A | G | 1 | a0001c0002t0010g0233 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.172-6376T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047307 | |||||||
chr2:73047309 | G | A | 1 | a0001c0002t0001g0073 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.172-6378C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047309 | |||||||
chr2:73047315 | G | A | 1 | a0001c0002t0001g0073 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.172-6384C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047315 | |||||||
chr2:73047317 | A | G | 1 | a0001c0002t0001g0073 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.172-6386T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047317 | |||||||
chr2:73047319 | G | A | 1 | a0001c0002t0001g0073 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.172-6388C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047319 | |||||||
chr2:73047319 | G | GTA | 126 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(123): Show |
126 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.172-6390_172-6389d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047319 | |||||||
chr2:73047451 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.172-6520C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047451 | |||||||
chr2:73047518 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.172-6587G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047518 | |||||||
chr2:73047519 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.172-6588C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047519 | |||||||
chr2:73047537 | T | C | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.172-6606A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047537 | |||||||
chr2:73047868 | C | T | 57 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(54): Show |
57 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.172-6937G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047868 | |||||||
chr2:73047888 | T | C | 26 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(23): Show |
26 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(23): Show |
intron_variant | MODIFIER | c.172-6957A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73047888 | |||||||
chr2:73048001 | T | TAA | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.172-7072_172-7071d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048001 | |||||||
chr2:73048036 | C | A | 134 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(131): Show |
134 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.172-7105G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048036 | |||||||
chr2:73048039 | C | T | 126 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(123): Show |
126 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.172-7108G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048039 | |||||||
chr2:73048565 | T | A | 1 | a0001c0002t0001g0044 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.172-7634A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048565 | |||||||
chr2:73048795 | A | G | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.172-7864T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048795 | |||||||
chr2:73048816 | G | A | 57 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(54): Show |
57 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.172-7885C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048816 | |||||||
chr2:73048821 | T | C | 145 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(142): Show |
145 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(142): Show |
intron_variant | MODIFIER | c.172-7890A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048821 | |||||||
chr2:73048974 | T | C | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.172-8043A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73048974 | |||||||
chr2:73049087 | C | T | 126 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(123): Show |
126 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.172-8156G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049087 | |||||||
chr2:73049540 | C | A | 5 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(2): Show |
5 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.172-8609G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049540 | |||||||
chr2:73049651 | T | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.172-8720A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049651 | |||||||
chr2:73049772 | A | T | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.171+8756T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049772 | |||||||
chr2:73049938 | A | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.171+8590T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049938 | |||||||
chr2:73049973 | G | GA | 69 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(66): Show |
69 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(66): Show |
intron_variant | MODIFIER | c.171+8554dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049973 | |||||||
chr2:73049973 | G | GAA | 54 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(51): Show |
54 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.171+8553_171+8554d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73049973 | |||||||
chr2:73050040 | G | A | 1 | a0001c0002t0001g0066 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.171+8488C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050040 | |||||||
chr2:73050250 | C | T | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.171+8278G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050250 | |||||||
chr2:73050385 | A | AGCGC | 4 | a0001c0001t0027g0184 a0001c0002t0010g0233 a0001c0002t0010g0234 others(1): Show |
4 | HG01243.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+8139_171+8142d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050385 | |||||||
chr2:73050388 | G | GCGCACAC others(7): Show |
3 | a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0001g0222 |
3 | NA18959.hp1 NA18977.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(16): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(9): Show |
8 | a0001c0001t0004g0203 a0001c0002t0001g0212 a0001c0002t0001g0214 others(5): Show |
8 | HG02647.hp1 HG02717.hp1 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(11): Show |
4 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0033 others(1): Show |
4 | HG02602.hp2 HG02615.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(13): Show |
2 | a0001c0001t0001g0240 a0001c0002t0001g0204 |
2 | HG02071.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(22): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(15): Show |
2 | a0001c0002t0001g0206 a0001c0002t0001g0219 |
2 | HG00438.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(19): Show |
1 | a0001c0002t0001g0220 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(21): Show |
1 | a0001c0002t0001g0217 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(23): Show |
2 | a0002c0005t0009g0003 a0002c0005t0009g0004 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCACAC others(25): Show |
1 | a0001c0002t0001g0216 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(9): Show |
1 | a0001c0002t0002g0087 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.171+8139_171+8140i others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(5): Show |
3 | a0001c0001t0005g0015 a0001c0001t0009g0013 a0001c0004t0005g0244 |
3 | HG02257.hp1 HG02647.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(14): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(7): Show |
2 | a0001c0001t0002g0014 a0001c0002t0001g0048 |
2 | HG02818.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(16): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(9): Show |
12 | a0001c0002t0001g0044 a0001c0002t0001g0078 a0001c0002t0001g0086 others(9): Show |
12 | HG02109.hp1 HG02300.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(11): Show |
10 | a0001c0001t0014g0245 a0001c0002t0001g0040 a0001c0002t0001g0050 others(7): Show |
10 | HG00735.hp1 HG00738.hp2 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(13): Show |
7 | a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0215 others(4): Show |
7 | HG00733.hp2 HG02818.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(22): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(15): Show |
2 | a0001c0002t0002g0011 a0001c0002t0002g0069 |
2 | HG02451.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(17): Show |
5 | a0001c0001t0001g0081 a0001c0002t0001g0046 a0001c0002t0001g0053 others(2): Show |
5 | HG02015.hp2 HG02280.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(19): Show |
8 | a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 others(5): Show |
8 | HG00741.hp1 HG01256.hp2 HG01975.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(21): Show |
5 | a0001c0001t0001g0077 a0001c0002t0001g0035 a0001c0002t0001g0037 others(2): Show |
5 | HG00544.hp1 HG02071.hp1 HG02165.hp1 others(2): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(23): Show |
2 | a0001c0002t0001g0058 a0001c0002t0001g0072 |
2 | HG00597.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(25): Show |
3 | a0001c0002t0001g0059 a0001c0002t0001g0073 a0001c0002t0001g0084 |
3 | HG03927.hp1 NA18948.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(27): Show |
1 | a0001c0002t0004g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(36): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(29): Show |
1 | a0001c0002t0020g0060 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.171+8139_171+8140i others(38): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCAC others(31): Show |
1 | a0001c0002t0001g0061 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(40): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(9): Show |
1 | a0001c0002t0001g0064 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.171+8139_171+8140i others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(11): Show |
4 | a0001c0001t0003g0241 a0001c0001t0005g0242 a0001c0001t0016g0248 others(1): Show |
4 | HG01884.hp2 HG02280.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(13): Show |
6 | a0001c0001t0002g0090 a0001c0002t0001g0034 a0001c0002t0001g0049 others(3): Show |
6 | HG02738.hp2 HG03486.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.171+8139_171+8140i others(22): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(17): Show |
2 | a0001c0002t0005g0016 a0001c0002t0005g0231 |
2 | NA19043.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.171+8139_171+8140i others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(9): Show |
1 | a0001c0001t0003g0247 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(18): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(13): Show |
1 | a0001c0003t0006g0018 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.171+8139_171+8140i others(22): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(15): Show |
1 | a0001c0002t0001g0082 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(19): Show |
1 | a0001c0002t0001g0052 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.171+8139_171+8140i others(28): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | G | GCGCGCGC others(21): Show |
1 | a0001c0002t0001g0045 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.171+8139_171+8140i others(30): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050388 | GCA | G | 71 | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0099 others(68): Show |
71 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(68): Show |
intron_variant | MODIFIER | c.171+8138_171+8139d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050388 | |||||||
chr2:73050390 | A | G | 58 | a0001c0001t0001g0063 a0001c0001t0001g0129 a0001c0001t0001g0176 others(55): Show |
59 | HG00140.hp1 HG00438.hp2 HG00733.hp1 others(56): Show |
intron_variant | MODIFIER | c.171+8138T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050390 | |||||||
chr2:73050392 | G | A | 115 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0238 others(112): Show |
115 | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(112): Show |
intron_variant | MODIFIER | c.171+8136C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050392 | |||||||
chr2:73050392 | G | GCA | 7 | a0001c0001t0002g0170 a0001c0001t0003g0182 a0001c0001t0004g0186 others(4): Show |
7 | HG00140.hp1 HG00733.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.171+8134_171+8135d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050392 | |||||||
chr2:73050394 | A | G | 73 | a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0099 others(70): Show |
73 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(70): Show |
intron_variant | MODIFIER | c.171+8134T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050394 | |||||||
chr2:73050420 | A | ACACACAC others(27): Show |
1 | a0001c0002t0002g0032 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.171+8107_171+8108i others(36): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050420 | A | ACACACAC others(17): Show |
2 | a0001c0001t0008g0091 a0001c0002t0003g0031 |
2 | HG03209.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.171+8107_171+8108i others(26): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050420 | A | ACACACAC others(15): Show |
1 | a0001c0002t0002g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.171+8107_171+8108i others(24): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050420 | A | ACACACAC others(13): Show |
2 | a0001c0002t0012g0094 a0001c0004t0005g0092 |
2 | HG01099.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.171+8107_171+8108i others(22): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050420 | A | ACACACAC others(11): Show |
3 | a0001c0002t0002g0029 a0001c0002t0002g0093 a0001c0002t0008g0028 |
3 | HG01261.hp2 HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.171+8107_171+8108i others(20): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050420 | A | C | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.171+8108T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050420 | |||||||
chr2:73050421 | C | CACACACA others(10): Show |
2 | a0001c0002t0003g0202 a0001c0009t0004g0027 |
2 | HG01243.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.171+8106_171+8107i others(19): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050421 | C | CACACACA others(12): Show |
1 | a0001c0002t0002g0022 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.171+8106_171+8107i others(21): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050421 | C | CACACACA others(16): Show |
1 | a0001c0002t0001g0218 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.171+8106_171+8107i others(25): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050421 | C | CACACACA others(18): Show |
1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.171+8106_171+8107i others(27): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050421 | C | CACACACA others(20): Show |
3 | a0001c0002t0001g0083 a0001c0002t0002g0038 a0001c0002t0022g0062 |
3 | HG04228.hp1 NA18906.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.171+8106_171+8107i others(29): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050421 | C | CACACACA others(26): Show |
2 | a0001c0001t0001g0063 a0001c0002t0002g0047 |
2 | NA18612.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.171+8106_171+8107i others(35): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050421 | |||||||
chr2:73050502 | G | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.171+8026C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050502 | |||||||
chr2:73050798 | A | G | 1 | a0001c0001t0002g0169 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.171+7730T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050798 | |||||||
chr2:73050899 | T | C | 6 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(3): Show |
6 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.171+7629A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73050899 | |||||||
chr2:73051023 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.171+7505C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051023 | |||||||
chr2:73051257 | C | CT | 88 | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 others(85): Show |
89 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(86): Show |
intron_variant | MODIFIER | c.171+7270dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051257 | C | CTT | 25 | a0001c0001t0001g0141 a0001c0001t0002g0014 a0001c0001t0002g0090 others(22): Show |
25 | HG01243.hp1 HG01261.hp2 HG01361.hp2 others(22): Show |
intron_variant | MODIFIER | c.171+7269_171+7270d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051257 | C | CTTT | 26 | a0001c0001t0005g0015 a0001c0001t0005g0242 a0001c0001t0014g0245 others(23): Show |
26 | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(23): Show |
intron_variant | MODIFIER | c.171+7268_171+7270d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051257 | C | CTTTT | 43 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(40): Show |
43 | HG00438.hp1 HG01884.hp2 HG02055.hp2 others(40): Show |
intron_variant | MODIFIER | c.171+7267_171+7270d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051257 | C | CTTTTT | 48 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(45): Show |
48 | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(45): Show |
intron_variant | MODIFIER | c.171+7266_171+7270d others(7): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051257 | C | CTTTTTT | 7 | a0001c0002t0001g0034 a0001c0002t0001g0044 a0001c0002t0001g0046 others(4): Show |
7 | HG01256.hp2 HG01981.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.171+7265_171+7270d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051257 | |||||||
chr2:73051383 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.171+7145C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051383 | |||||||
chr2:73051544 | C | T | 3 | a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0003g0191 |
3 | HG02258.hp1 HG02622.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.171+6984G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051544 | |||||||
chr2:73051635 | G | A | 1 | a0001c0006t0007g0024 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.171+6893C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051635 | |||||||
chr2:73051861 | C | T | 131 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(128): Show |
131 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.171+6667G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73051861 | |||||||
chr2:73052147 | T | C | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.171+6381A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052147 | |||||||
chr2:73052326 | A | G | 8 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(5): Show |
8 | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+6202T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052326 | |||||||
chr2:73052330 | AAG | A | 6 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0003g0241 others(3): Show |
6 | HG01884.hp2 HG02145.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.171+6196_171+6197d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052330 | |||||||
chr2:73052339 | A | AGT | 12 | a0001c0001t0001g0112 a0001c0001t0002g0014 a0001c0001t0003g0247 others(9): Show |
12 | HG00738.hp2 HG01099.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.171+6187_171+6188d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052339 | |||||||
chr2:73052341 | T | A | 12 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(9): Show |
12 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.171+6187A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052341 | |||||||
chr2:73052351 | TGTGTATG others(1): Show |
T | 4 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 others(1): Show |
4 | HG02109.hp1 HG02572.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+6169_171+6176d others(10): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052351 | |||||||
chr2:73052353 | TGTATGC | T | 5 | a0001c0002t0001g0040 a0001c0002t0002g0032 a0001c0002t0003g0041 others(2): Show |
5 | HG00741.hp1 HG01256.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.171+6169_171+6174d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052353 | |||||||
chr2:73052354 | GTA | G | 34 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0081 others(31): Show |
34 | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(31): Show |
intron_variant | MODIFIER | c.171+6172_171+6173d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052354 | |||||||
chr2:73052355 | TATGC | T | 68 | a0001c0001t0001g0080 a0001c0001t0001g0238 a0001c0001t0001g0239 others(65): Show |
68 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(65): Show |
intron_variant | MODIFIER | c.171+6169_171+6172d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052355 | |||||||
chr2:73052356 | A | G | 6 | a0001c0002t0001g0034 a0001c0002t0001g0066 a0001c0004t0005g0092 others(3): Show |
6 | HG02055.hp2 HG02630.hp1 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.171+6172T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052356 | |||||||
chr2:73052358 | G | A | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.171+6170C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052358 | |||||||
chr2:73052359 | C | CGT | 7 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0153 others(4): Show |
7 | HG01081.hp1 HG01123.hp1 HG03239.hp1 others(4): Show |
intron_variant | MODIFIER | c.171+6167_171+6168d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052359 | C | T | 40 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0081 others(37): Show |
40 | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(37): Show |
intron_variant | MODIFIER | c.171+6169G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052359 | CGT | C | 16 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 others(13): Show |
17 | HG01169.hp1 HG01261.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.171+6167_171+6168d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052359 | CGTGT | C | 4 | a0001c0001t0002g0163 a0001c0001t0003g0104 a0001c0001t0025g0096 others(1): Show |
4 | HG00323.hp1 HG02886.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.171+6165_171+6168d others(6): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052359 | CGTGTGT | C | 13 | a0001c0001t0001g0110 a0001c0001t0002g0007 a0001c0001t0003g0008 others(10): Show |
13 | HG01070.hp2 HG01361.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.171+6163_171+6168d others(8): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052359 | CGTGTGTG others(3): Show |
C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.171+6159_171+6168d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052359 | |||||||
chr2:73052360 | G | A | 4 | a0001c0002t0002g0093 a0001c0002t0012g0094 a0001c0011t0002g0089 others(1): Show |
4 | HG01099.hp2 HG02055.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+6168C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052360 | |||||||
chr2:73052361 | T | C | 1 | a0001c0004t0005g0092 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.171+6167A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052361 | |||||||
chr2:73052362 | G | A | 51 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(48): Show |
51 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(48): Show |
intron_variant | MODIFIER | c.171+6166C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052362 | |||||||
chr2:73052363 | T | C | 5 | a0001c0002t0001g0066 a0001c0002t0002g0093 a0001c0002t0012g0094 others(2): Show |
5 | HG01099.hp2 HG02055.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.171+6165A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052363 | |||||||
chr2:73052364 | G | A | 52 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(49): Show |
52 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.171+6164C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052364 | |||||||
chr2:73052365 | T | C | 51 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(48): Show |
51 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(48): Show |
intron_variant | MODIFIER | c.171+6163A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052365 | |||||||
chr2:73052366 | G | A | 8 | a0001c0002t0001g0040 a0001c0002t0001g0086 a0001c0002t0002g0087 others(5): Show |
8 | HG00741.hp1 HG01256.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+6162C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052366 | |||||||
chr2:73052367 | T | C | 52 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(49): Show |
52 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.171+6161A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052367 | |||||||
chr2:73052367 | T | TGTGTGTA others(3): Show |
11 | a0001c0001t0002g0014 a0001c0001t0003g0247 a0001c0001t0005g0015 others(8): Show |
11 | HG00738.hp2 HG02257.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.171+6160_171+6161i others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052367 | |||||||
chr2:73052369 | T | C | 8 | a0001c0002t0001g0040 a0001c0002t0001g0086 a0001c0002t0002g0087 others(5): Show |
8 | HG00741.hp1 HG01256.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+6159A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052369 | |||||||
chr2:73052566 | C | T | 4 | a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 others(1): Show |
4 | NA18966.hp1 NA18990.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.171+5962G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052566 | |||||||
chr2:73052582 | A | ATTG | 147 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(144): Show |
147 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show |
intron_variant | MODIFIER | c.171+5943_171+5945d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052582 | |||||||
chr2:73052872 | T | G | 1 | a0001c0013t0015g0079 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.171+5656A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052872 | |||||||
chr2:73052908 | T | C | 2 | a0001c0002t0003g0230 a0001c0002t0005g0231 |
2 | HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.171+5620A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052908 | |||||||
chr2:73052935 | T | A | 1 | a0001c0002t0001g0197 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.171+5593A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052935 | |||||||
chr2:73052988 | G | T | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.171+5540C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73052988 | |||||||
chr2:73053007 | G | A | 4 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 others(1): Show |
4 | HG01243.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+5521C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053007 | |||||||
chr2:73053027 | A | T | 7 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(4): Show |
7 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(4): Show |
intron_variant | MODIFIER | c.171+5501T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053027 | |||||||
chr2:73053039 | T | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.171+5489A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053039 | |||||||
chr2:73053102 | A | C | 1 | a0001c0002t0001g0045 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.171+5426T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053102 | |||||||
chr2:73053174 | G | A | 35 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(32): Show |
35 | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(32): Show |
intron_variant | MODIFIER | c.171+5354C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053174 | |||||||
chr2:73053287 | G | A | 7 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(4): Show |
7 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.171+5241C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053287 | |||||||
chr2:73053409 | C | T | 1 | a0001c0001t0001g0111 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.171+5119G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053409 | |||||||
chr2:73053544 | C | A | 1 | a0001c0002t0001g0065 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.171+4984G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053544 | |||||||
chr2:73053591 | T | C | 1 | a0001c0001t0002g0090 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.171+4937A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053591 | |||||||
chr2:73053794 | G | A | 10 | a0001c0001t0002g0014 a0001c0001t0003g0247 a0001c0001t0005g0015 others(7): Show |
10 | HG00738.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.171+4734C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053794 | |||||||
chr2:73053913 | A | G | 1 | a0001c0002t0002g0207 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.171+4615T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053913 | |||||||
chr2:73053951 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.171+4577A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73053951 | |||||||
chr2:73054087 | G | A | 1 | a0001c0001t0004g0203 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.171+4441C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054087 | |||||||
chr2:73054125 | C | A | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.171+4403G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054125 | |||||||
chr2:73054128 | G | T | 1 | a0001c0003t0006g0243 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.171+4400C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054128 | |||||||
chr2:73054133 | T | G | 1 | a0001c0002t0001g0066 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.171+4395A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054133 | |||||||
chr2:73054232 | T | C | 1 | a0001c0011t0002g0089 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.171+4296A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054232 | |||||||
chr2:73054234 | C | T | 1 | a0001c0001t0003g0247 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.171+4294G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054234 | |||||||
chr2:73054283 | T | C | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.171+4245A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054283 | |||||||
chr2:73054478 | T | C | 4 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show |
4 | HG00544.hp2 NA18612.hp2 NA18967.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+4050A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054478 | |||||||
chr2:73054517 | G | A | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.171+4011C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054517 | |||||||
chr2:73054551 | C | T | 1 | a0001c0002t0001g0044 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.171+3977G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054551 | |||||||
chr2:73054579 | C | T | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.171+3949G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054579 | |||||||
chr2:73054944 | A | T | 139 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(136): Show |
139 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(136): Show |
intron_variant | MODIFIER | c.171+3584T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054944 | |||||||
chr2:73054993 | C | T | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.171+3535G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73054993 | |||||||
chr2:73055047 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.171+3481C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055047 | |||||||
chr2:73055117 | G | C | 1 | a0001c0001t0001g0077 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.171+3411C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055117 | |||||||
chr2:73055193 | C | T | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.171+3335G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055193 | |||||||
chr2:73055237 | C | T | 137 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(134): Show |
137 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.171+3291G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055237 | |||||||
chr2:73055374 | A | G | 56 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(53): Show |
56 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(53): Show |
intron_variant | MODIFIER | c.171+3154T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055374 | |||||||
chr2:73055567 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.171+2961A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055567 | |||||||
chr2:73055598 | CT | C | 25 | a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 others(22): Show |
25 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(22): Show |
intron_variant | MODIFIER | c.171+2929delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055598 | |||||||
chr2:73055673 | A | G | 245 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(242): Show |
246 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
intron_variant | MODIFIER | c.171+2855T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055673 | |||||||
chr2:73055720 | C | A | 2 | a0002c0005t0009g0003 a0002c0005t0009g0004 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.171+2808G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055720 | |||||||
chr2:73055853 | G | C | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.171+2675C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055853 | |||||||
chr2:73055900 | G | A | 142 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(139): Show |
142 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.171+2628C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055900 | |||||||
chr2:73055909 | G | A | 1 | a0001c0001t0008g0091 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.171+2619C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73055909 | |||||||
chr2:73056063 | G | A | 2 | a0001c0001t0004g0186 a0001c0001t0004g0187 |
2 | HG03098.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.171+2465C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056063 | |||||||
chr2:73056244 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.171+2284A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056244 | |||||||
chr2:73056252 | G | A | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.171+2276C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056252 | |||||||
chr2:73056347 | A | G | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.171+2181T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056347 | |||||||
chr2:73056382 | C | CA | 37 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0007 others(34): Show |
37 | HG00438.hp1 HG01884.hp2 HG02071.hp2 others(34): Show |
intron_variant | MODIFIER | c.171+2145dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056382 | |||||||
chr2:73056382 | CA | C | 8 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(5): Show |
8 | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.171+2145delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056382 | |||||||
chr2:73056646 | T | C | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.171+1882A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056646 | |||||||
chr2:73056685 | C | CA | 13 | a0001c0001t0002g0007 a0001c0001t0002g0090 a0001c0001t0003g0008 others(10): Show |
13 | HG00438.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.171+1842dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056685 | |||||||
chr2:73056703 | C | A | 3 | a0001c0002t0003g0025 a0001c0002t0009g0012 a0001c0002t0012g0026 |
3 | HG02109.hp1 HG03225.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.171+1825G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056703 | |||||||
chr2:73056785 | T | C | 1 | a0001c0001t0003g0190 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.171+1743A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056785 | |||||||
chr2:73056884 | T | G | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.171+1644A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056884 | |||||||
chr2:73056924 | C | G | 21 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(18): Show |
21 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.171+1604G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73056924 | |||||||
chr2:73057039 | G | A | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.171+1489C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057039 | |||||||
chr2:73057311 | T | A | 10 | a0001c0001t0002g0014 a0001c0001t0003g0247 a0001c0001t0005g0015 others(7): Show |
10 | HG00738.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.171+1217A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057311 | |||||||
chr2:73057329 | A | G | 140 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(137): Show |
140 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.171+1199T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057329 | |||||||
chr2:73057447 | T | C | 132 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(129): Show |
132 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.171+1081A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057447 | |||||||
chr2:73057739 | T | C | 7 | a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0001g0222 others(4): Show |
7 | NA18948.hp1 NA18957.hp1 NA18959.hp1 others(4): Show |
intron_variant | MODIFIER | c.171+789A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057739 | |||||||
chr2:73057812 | T | C | 4 | a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
4 | HG00741.hp2 HG01123.hp2 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.171+716A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057812 | |||||||
chr2:73057821 | G | A | 1 | a0001c0002t0001g0034 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.171+707C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057821 | |||||||
chr2:73057966 | G | T | 1 | a0001c0002t0001g0197 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.171+562C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057966 | |||||||
chr2:73057977 | T | C | 1 | a0001c0002t0002g0011 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.171+551A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057977 | |||||||
chr2:73057990 | C | T | 1 | a0001c0003t0006g0017 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.171+538G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73057990 | |||||||
chr2:73058017 | C | T | 132 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(129): Show |
132 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(129): Show |
intron_variant | MODIFIER | c.171+511G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73058017 | |||||||
chr2:73058172 | C | T | 2 | a0001c0002t0001g0040 a0001c0002t0003g0041 |
2 | HG02717.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.171+356G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73058172 | |||||||
chr2:73058221 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.171+307A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73058221 | |||||||
chr2:73058392 | T | C | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.171+136A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73058392 | |||||||
chr2:73058395 | T | A | 1 | a0001c0002t0002g0011 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.171+133A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | 73058395 | |||||||
chr2:73058623 | T | A | 131 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(128): Show |
131 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(128): Show |
intron_variant | MODIFIER | c.103-27A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73058623 | |||||||
chr2:73058867 | G | A | 139 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(136): Show |
139 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(136): Show |
intron_variant | MODIFIER | c.103-271C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73058867 | |||||||
chr2:73058888 | G | A | 1 | a0001c0001t0008g0228 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.103-292C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73058888 | |||||||
chr2:73058990 | A | G | 1 | a0001c0002t0001g0206 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.103-394T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73058990 | |||||||
chr2:73059033 | C | CCAGCTCT others(24): Show |
20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.103-468_103-438dup others(31): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059033 | |||||||
chr2:73059050 | G | T | 1 | a0001c0001t0011g0171 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.103-454C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059050 | |||||||
chr2:73059085 | T | C | 134 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(131): Show |
134 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(131): Show |
intron_variant | MODIFIER | c.103-489A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059085 | |||||||
chr2:73059211 | C | A | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.103-615G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059211 | |||||||
chr2:73059212 | G | A | 20 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(17): Show |
20 | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.103-616C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059212 | |||||||
chr2:73059254 | C | G | 33 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(30): Show |
33 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(30): Show |
intron_variant | MODIFIER | c.103-658G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059254 | |||||||
chr2:73059572 | A | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.103-976T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059572 | |||||||
chr2:73059625 | ACCCCTGC others(279): Show |
A | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.103-1315_103-1030d others(2): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059625 | |||||||
chr2:73059778 | G | C | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.103-1182C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73059778 | |||||||
chr2:73060096 | T | C | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.103-1500A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060096 | |||||||
chr2:73060327 | C | G | 1 | a0001c0002t0016g0235 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.103-1731G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060327 | |||||||
chr2:73060431 | T | C | 1 | a0001c0002t0001g0078 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.103-1835A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060431 | |||||||
chr2:73060488 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.103-1892C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060488 | |||||||
chr2:73060555 | G | C | 1 | a0001c0001t0002g0033 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.103-1959C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060555 | |||||||
chr2:73060563 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.103-1967C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060563 | |||||||
chr2:73060563 | G | T | 1 | a0001c0001t0002g0170 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.103-1967C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060563 | |||||||
chr2:73060703 | C | CT | 75 | a0001c0001t0001g0080 a0001c0001t0001g0238 a0001c0001t0001g0239 others(72): Show |
75 | HG00099.hp1 HG00438.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.103-2108dupA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060703 | |||||||
chr2:73060703 | C | CTT | 56 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0002g0042 others(53): Show |
56 | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.103-2109_103-2108d others(4): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060703 | |||||||
chr2:73060742 | C | T | 126 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(123): Show |
126 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.103-2146G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060742 | |||||||
chr2:73060820 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.103-2224G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060820 | |||||||
chr2:73060856 | C | T | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.103-2260G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060856 | |||||||
chr2:73060904 | T | C | 1 | a0001c0001t0019g0189 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.103-2308A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060904 | |||||||
chr2:73060953 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.103-2357C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060953 | |||||||
chr2:73060955 | C | A | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.103-2359G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73060955 | |||||||
chr2:73061051 | C | G | 1 | a0001c0001t0001g0102 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.103-2455G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061051 | |||||||
chr2:73061145 | G | A | 4 | a0001c0002t0004g0006 a0001c0002t0018g0199 a0001c0002t0023g0237 others(1): Show |
4 | HG00280.hp2 HG02145.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.103-2549C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061145 | |||||||
chr2:73061307 | C | CA | 7 | a0001c0001t0001g0152 a0001c0002t0001g0205 a0001c0002t0010g0233 others(4): Show |
7 | HG01243.hp1 HG02055.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.103-2712dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061307 | |||||||
chr2:73061307 | C | G | 22 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0170 others(19): Show |
23 | HG00140.hp1 HG00733.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.103-2711G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061307 | |||||||
chr2:73061307 | CA | C | 8 | a0001c0001t0001g0102 a0001c0002t0001g0061 a0001c0002t0001g0197 others(5): Show |
8 | HG00323.hp2 HG01099.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.103-2712delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061307 | |||||||
chr2:73061308 | A | G | 2 | a0001c0001t0002g0169 a0001c0001t0003g0190 |
2 | HG01169.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.103-2712T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061308 | |||||||
chr2:73061344 | A | G | 2 | a0001c0002t0010g0233 a0001c0002t0010g0234 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.103-2748T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061344 | |||||||
chr2:73061529 | GAAT | G | 3 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 |
3 | HG02630.hp2 HG03041.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.103-2936_103-2934d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061529 | |||||||
chr2:73061666 | G | A | 1 | a0001c0001t0002g0162 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.103-3070C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061666 | |||||||
chr2:73061690 | T | C | 124 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(121): Show |
124 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.103-3094A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061690 | |||||||
chr2:73061692 | G | C | 5 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(2): Show |
5 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.103-3096C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061692 | |||||||
chr2:73061760 | TA | T | 18 | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 others(15): Show |
18 | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.103-3165delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061760 | |||||||
chr2:73061839 | G | C | 1 | a0001c0002t0001g0082 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.103-3243C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73061839 | |||||||
chr2:73062026 | A | T | 1 | a0001c0001t0021g0010 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.103-3430T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062026 | |||||||
chr2:73062132 | G | A | 5 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 others(2): Show |
5 | HG01243.hp1 HG02055.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.103-3536C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062132 | |||||||
chr2:73062194 | T | C | 1 | a0001c0001t0002g0163 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.103-3598A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062194 | |||||||
chr2:73062430 | C | T | 55 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(52): Show |
55 | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.103-3834G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062430 | |||||||
chr2:73062518 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.103-3922C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062518 | |||||||
chr2:73062564 | G | A | 2 | a0001c0002t0001g0086 a0001c0002t0002g0087 |
2 | HG02572.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.103-3968C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062564 | |||||||
chr2:73062707 | C | T | 4 | a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 others(1): Show |
4 | HG00544.hp1 NA18945.hp2 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.103-4111G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062707 | |||||||
chr2:73062758 | G | A | 129 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(126): Show |
129 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.103-4162C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062758 | |||||||
chr2:73062841 | G | A | 1 | a0001c0001t0001g0164 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.103-4245C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062841 | |||||||
chr2:73062881 | A | C | 2 | a0001c0001t0002g0014 a0001c0001t0009g0013 |
2 | HG02647.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.103-4285T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062881 | |||||||
chr2:73062986 | A | G | 1 | a0001c0002t0001g0083 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.103-4390T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73062986 | |||||||
chr2:73063020 | G | A | 1 | a0001c0001t0003g0190 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.103-4424C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063020 | |||||||
chr2:73063020 | G | C | 1 | a0001c0009t0004g0027 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.103-4424C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063020 | |||||||
chr2:73063040 | G | A | 119 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(116): Show |
119 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.103-4444C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063040 | |||||||
chr2:73063059 | C | T | 2 | a0002c0005t0009g0003 a0002c0005t0009g0004 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.103-4463G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063059 | |||||||
chr2:73063129 | G | C | 119 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(116): Show |
119 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.103-4533C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063129 | |||||||
chr2:73063199 | T | C | 1 | a0001c0002t0001g0226 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.103-4603A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063199 | |||||||
chr2:73063344 | G | C | 58 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(55): Show |
58 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.103-4748C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063344 | |||||||
chr2:73063581 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.103-4985A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063581 | |||||||
chr2:73063910 | C | T | 3 | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 |
3 | HG00099.hp2 HG01261.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.103-5314G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73063910 | |||||||
chr2:73064171 | A | C | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.103-5575T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73064171 | |||||||
chr2:73064287 | C | T | 1 | a0001c0003t0006g0017 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.103-5691G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73064287 | |||||||
chr2:73064379 | G | A | 121 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(118): Show |
121 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.103-5783C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73064379 | |||||||
chr2:73064498 | G | A | 1 | a0001c0002t0001g0083 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.103-5902C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73064498 | |||||||
chr2:73064605 | C | G | 2 | a0001c0002t0001g0035 a0001c0002t0001g0084 |
2 | HG02071.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.103-6009G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73064605 | |||||||
chr2:73065051 | T | C | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.103-6455A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065051 | |||||||
chr2:73065096 | T | TA | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.103-6501dupT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065096 | |||||||
chr2:73065462 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.102+6142C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065462 | |||||||
chr2:73065493 | C | T | 1 | a0001c0002t0001g0205 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.102+6111G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065493 | |||||||
chr2:73065644 | G | A | 3 | a0001c0002t0004g0006 a0001c0002t0023g0237 a0001c0014t0003g0005 |
3 | HG02145.hp2 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.102+5960C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065644 | |||||||
chr2:73065646 | C | A | 2 | a0002c0005t0009g0003 a0002c0005t0009g0004 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.102+5958G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065646 | |||||||
chr2:73065864 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.102+5740T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065864 | |||||||
chr2:73065937 | C | T | 2 | a0001c0002t0001g0034 a0001c0002t0005g0016 |
2 | HG02738.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.102+5667G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065937 | |||||||
chr2:73065960 | C | T | 1 | a0001c0002t0001g0204 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.102+5644G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73065960 | |||||||
chr2:73066216 | C | T | 141 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(138): Show |
141 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(138): Show |
intron_variant | MODIFIER | c.102+5388G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066216 | |||||||
chr2:73066377 | G | A | 2 | a0001c0001t0001g0166 a0001c0001t0003g0165 |
2 | HG01975.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.102+5227C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066377 | |||||||
chr2:73066410 | T | G | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.102+5194A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066410 | |||||||
chr2:73066543 | G | A | 2 | a0001c0001t0001g0168 a0001c0002t0001g0167 |
2 | HG00597.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.102+5061C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066543 | |||||||
chr2:73066843 | AAAAAGAA others(3): Show |
A | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.102+4751_102+4760d others(12): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066843 | |||||||
chr2:73066942 | G | C | 27 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0007 others(24): Show |
28 | HG00140.hp1 HG00733.hp1 HG01169.hp1 others(25): Show |
intron_variant | MODIFIER | c.102+4662C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066942 | |||||||
chr2:73066958 | T | C | 4 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(1): Show |
4 | HG01884.hp2 HG02280.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.102+4646A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066958 | |||||||
chr2:73066989 | G | A | 1 | a0001c0001t0003g0191 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.102+4615C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73066989 | |||||||
chr2:73067049 | TA | T | 126 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(123): Show |
126 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.102+4554delT | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067049 | |||||||
chr2:73067056 | AAAG | A | 12 | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0002t0003g0025 others(9): Show |
12 | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.102+4545_102+4547d others(5): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067056 | |||||||
chr2:73067061 | A | G | 12 | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0002t0003g0025 others(9): Show |
12 | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.102+4543T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067061 | |||||||
chr2:73067073 | TGATTTTA | T | 12 | a0001c0002t0002g0022 a0001c0002t0003g0020 a0001c0002t0003g0025 others(9): Show |
12 | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.102+4524_102+4530d others(9): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067073 | |||||||
chr2:73067128 | A | G | 123 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(120): Show |
123 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(120): Show |
intron_variant | MODIFIER | c.102+4476T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067128 | |||||||
chr2:73067149 | AT | A | 27 | a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0007 others(24): Show |
28 | HG00140.hp1 HG00733.hp1 HG01169.hp1 others(25): Show |
intron_variant | MODIFIER | c.102+4454delA | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067149 | |||||||
chr2:73067224 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.102+4380A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067224 | |||||||
chr2:73067248 | G | T | 4 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(1): Show |
4 | HG01884.hp2 HG02280.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.102+4356C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067248 | |||||||
chr2:73067297 | T | C | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.102+4307A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067297 | |||||||
chr2:73067515 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.102+4089G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067515 | |||||||
chr2:73067558 | T | C | 3 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 |
3 | HG02602.hp2 HG03017.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.102+4046A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067558 | |||||||
chr2:73067838 | A | G | 1 | a0001c0002t0005g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.102+3766T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067838 | |||||||
chr2:73067903 | T | C | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.102+3701A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73067903 | |||||||
chr2:73068120 | A | C | 128 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(125): Show |
128 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
intron_variant | MODIFIER | c.102+3484T>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068120 | |||||||
chr2:73068338 | T | C | 1 | a0001c0002t0001g0084 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.102+3266A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068338 | |||||||
chr2:73068364 | G | T | 11 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0003g0247 others(8): Show |
11 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.102+3240C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068364 | |||||||
chr2:73068454 | G | A | 26 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(23): Show |
26 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(23): Show |
intron_variant | MODIFIER | c.102+3150C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068454 | |||||||
chr2:73068553 | T | A | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.102+3051A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068553 | |||||||
chr2:73068602 | T | C | 6 | a0001c0001t0004g0195 a0001c0001t0010g0193 a0001c0001t0015g0194 others(3): Show |
6 | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.102+3002A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068602 | |||||||
chr2:73068710 | G | A | 2 | a0001c0001t0002g0090 a0001c0001t0008g0091 |
2 | HG03209.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.102+2894C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068710 | |||||||
chr2:73068935 | T | A | 58 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(55): Show |
58 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
intron_variant | MODIFIER | c.102+2669A>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068935 | |||||||
chr2:73068974 | T | G | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.102+2630A>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73068974 | |||||||
chr2:73069167 | C | T | 9 | a0001c0001t0002g0014 a0001c0001t0003g0241 a0001c0001t0005g0015 others(6): Show |
9 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.102+2437G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069167 | |||||||
chr2:73069268 | G | A | 3 | a0001c0002t0001g0086 a0001c0002t0002g0087 a0001c0002t0011g0085 |
3 | HG02572.hp1 HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.102+2336C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069268 | |||||||
chr2:73069331 | G | T | 1 | a0001c0001t0001g0227 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.102+2273C>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069331 | |||||||
chr2:73069432 | G | GTTTCTGG others(6): Show |
1 | a0001c0002t0009g0012 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.102+2159_102+2171d others(15): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069432 | |||||||
chr2:73069656 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.102+1948G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069656 | |||||||
chr2:73069729 | A | G | 2 | a0001c0011t0002g0089 a0001c0012t0007g0088 |
2 | HG02055.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.102+1875T>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069729 | |||||||
chr2:73069878 | C | T | 120 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(117): Show |
120 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.102+1726G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069878 | |||||||
chr2:73069919 | A | T | 133 | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 others(130): Show |
133 | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(130): Show |
intron_variant | MODIFIER | c.102+1685T>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73069919 | |||||||
chr2:73070451 | C | G | 1 | a0001c0001t0021g0010 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.102+1153G>C | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070451 | |||||||
chr2:73070503 | G | A | 1 | a0001c0001t0001g0240 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.102+1101C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070503 | |||||||
chr2:73070614 | C | A | 32 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(29): Show |
32 | HG00438.hp1 HG02071.hp2 HG02602.hp2 others(29): Show |
intron_variant | MODIFIER | c.102+990G>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070614 | |||||||
chr2:73070647 | G | C | 2 | a0001c0001t0001g0227 a0001c0001t0008g0228 |
2 | HG02145.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.102+957C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070647 | |||||||
chr2:73070730 | G | A | 2 | a0001c0002t0003g0230 a0001c0002t0005g0231 |
2 | HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.102+874C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070730 | |||||||
chr2:73070870 | G | A | 1 | a0001c0001t0001g0232 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.102+734C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070870 | |||||||
chr2:73070925 | G | A | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.102+679C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070925 | |||||||
chr2:73070971 | C | T | 5 | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0011g0009 others(2): Show |
5 | HG02145.hp2 HG02630.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.102+633G>A | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73070971 | |||||||
chr2:73071002 | T | C | 3 | a0001c0002t0010g0233 a0001c0002t0010g0234 a0001c0002t0016g0235 |
3 | HG01243.hp1 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.102+602A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73071002 | |||||||
chr2:73071188 | G | A | 1 | a0001c0002t0001g0236 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.102+416C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73071188 | |||||||
chr2:73071323 | G | A | 1 | a0001c0002t0023g0237 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.102+281C>T | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73071323 | |||||||
chr2:73071469 | T | C | 3 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 |
3 | HG02602.hp2 HG03017.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.102+135A>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73071469 | |||||||
chr2:73071542 | G | C | 8 | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0242 others(5): Show |
8 | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.102+62C>G | SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 1/13 | chr2 | 73071542 |