Item | Value |
---|---|
geneid | 390538 |
ensemblid | ENSG00000274102.3 |
hgncid | 15373 |
symbol | OR4M2 |
name | olfactory receptor family 4 subfamily M member 2 |
refseq_nuc | NM_001004719.2 |
refseq_prot | NP_001004719.2 |
ensembl_nuc | ENST00000614722.3 |
ensembl_prot | ENSP00000483239.1 |
mane_status | MANE Select |
chr | chr15 |
start | 22080527 |
end | 22081610 |
strand | + |
ver | v1.2 |
region | chr15:22080527-22081610 |
region5000 | chr15:22075527-22086610 |
regionname0 | OR4M2_chr15_22080527_22081610 |
regionname5000 | OR4M2_chr15_22075527_22086610 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 313 | 22 | 8 | 0 | 13 | 0 | 1 | 7 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0002 | 0/0 | 313 | 12 | 6 | 2 | 4 | 0 | 0 | 4 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0003 | 0/0 | 313 | 6 | 0 | 1 | 1 | 2 | 2 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0004 | 0/0 | 127 | 3 | 0 | 0 | 3 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(122): Show |
chr15 | 22075527 | 22086610 |
a0005 | 0/0 | 313 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0006 | 0/0 | 313 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAD others(308): Show |
chr15 | 22075527 | 22086610 |
a0007 | 0/0 | 176 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(171): Show |
chr15 | 22075527 | 22086610 |
a0008 | 0/0 | 313 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0009 | 0/0 | 313 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(308): Show |
chr15 | 22075527 | 22086610 |
a0010 | 0/0 | 127 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | METAN others(122): Show |
chr15 | 22075527 | 22086610 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 939 | 14 | 0 | 0 | 13 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0001c0003 | 0/0 | 939 | 8 | 8 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0002c0002 | 0/0 | 939 | 12 | 6 | 2 | 4 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0003c0004 | 0/0 | 939 | 6 | 0 | 1 | 1 | 2 | 2 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0004c0005 | 0/0 | 939 | 3 | 0 | 0 | 3 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0005c0006 | 0/0 | 939 | 2 | 0 | 0 | 2 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0006c0011 | 0/0 | 939 | 1 | 0 | 1 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0007c0008 | 0/0 | 939 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0008c0007 | 0/0 | 939 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0009c0009 | 0/0 | 939 | 1 | 0 | 0 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 | ||
a0010c0010 | 0/0 | 939 | 1 | 0 | 0 | 1 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | ATGGA others(934): Show |
chr15 | 22075527 | 22086610 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1084 | 14 | 0 | 0 | 13 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0001c0003t0001 | 0/0 | 1084 | 8 | 8 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0002c0002t0001 | 0/0 | 1084 | 12 | 6 | 2 | 4 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0003c0004t0001 | 0/0 | 1084 | 6 | 0 | 1 | 1 | 2 | 2 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0004c0005t0001 | 0/0 | 1084 | 3 | 0 | 0 | 3 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0005c0006t0001 | 0/0 | 1084 | 2 | 0 | 0 | 2 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0006c0011t0001 | 0/0 | 1084 | 1 | 0 | 1 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0007c0008t0001 | 0/0 | 1084 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0008c0007t0001 | 0/0 | 1084 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0009c0009t0001 | 0/0 | 1084 | 1 | 0 | 0 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
a0010c0010t0001 | 0/0 | 1084 | 1 | 0 | 0 | 1 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | TTTTG others(1079): Show |
chr15 | 22075527 | 22086610 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0000 | 0/0 | 14 | 0 | 0 | 13 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0001c0003t0001g0000 | 0/0 | 8 | 8 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0002c0002t0001g0000 | 0/0 | 12 | 6 | 2 | 4 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0003c0004t0001g0000 | 0/0 | 6 | 0 | 1 | 1 | 2 | 2 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0004c0005t0001g0000 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0005c0006t0001g0000 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0006c0011t0001g0000 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0007c0008t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0008c0007t0001g0000 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0009c0009t0001g0000 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
a0010c0010t0001g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0003 | c0004 | t0001 | g0000 | EUR | GBR | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00099 | hp2 | a0003 | c0004 | t0001 | g0000 | EUR | GBR | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00408 | hp1 | a0004 | c0005 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00408 | hp2 | a0003 | c0004 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00423 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00597 | hp1 | a0004 | c0005 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00741 | hp1 | a0003 | c0004 | t0001 | g0000 | AMR | PUR | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG00741 | hp2 | a0002 | c0002 | t0001 | g0000 | AMR | PUR | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG01496 | hp1 | a0002 | c0002 | t0001 | g0000 | AMR | CLM | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG01496 | hp2 | a0006 | c0011 | t0001 | g0000 | AMR | CLM | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG01884 | hp1 | a0007 | c0008 | t0001 | g0000 | AFR | ACB | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG01884 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | ACB | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02074 | hp1 | a0005 | c0006 | t0001 | g0000 | EAS | KHV | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02074 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02630 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02630 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02647 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG02647 | hp2 | a0001 | c0003 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03098 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | MSL | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03098 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | MSL | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03130 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | ESN | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03130 | hp2 | a0008 | c0007 | t0001 | g0000 | AFR | ESN | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03492 | hp1 | a0009 | c0009 | t0001 | g0000 | SAS | PJL | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03540 | hp1 | a0002 | c0002 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG03540 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | GWD | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG04184 | hp1 | a0003 | c0004 | t0001 | g0000 | SAS | BEB | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG04184 | hp2 | a0003 | c0004 | t0001 | g0000 | SAS | BEB | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18950 | hp1 | a0004 | c0005 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18951 | hp1 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18966 | hp1 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA18968 | hp2 | a0005 | c0006 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19002 | hp2 | a0010 | c0010 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19065 | hp1 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19091 | hp2 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19240 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | YRI | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
NA19240 | hp2 | a0002 | c0002 | t0001 | g0000 | AFR | YRI | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG06807 | hp1 | a0001 | c0003 | t0001 | g0000 | AFR | USA | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
HG06807 | hp2 | a0001 | c0003 | t0001 | g0000 | AFR | USA | OR4M2_chr15_22075527_22086610 | OR4M2 | chr15 | 22075527 | 22086610 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:22080637 | A | G | 1 | a0006 | 1 | HG01496.hp2 | missense_variant | MODERATE | c.13A>G | p.Asn5Asp | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 111/1084 | 13/942 | 5/313 | chr15 | 22080637 | |||
chr15:22080647 | A | G | 1 | a0010 | 1 | NA19002.hp2 | missense_variant | MODERATE | c.23A>G | p.Lys8Arg | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 121/1084 | 23/942 | 8/313 | chr15 | 22080647 | |||
chr15:22080904 | T | C | 2 | a0004 a0010 |
4 | HG00408.hp1 HG00597.hp1 NA18950.hp1 others(1): Show |
missense_variant | MODERATE | c.280T>C | p.Phe94Leu | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 378/1084 | 280/942 | 94/313 | chr15 | 22080904 | |||
chr15:22080911 | G | A | 3 | a0004 a0008 a0010 |
5 | HG00408.hp1 HG00597.hp1 HG03130.hp2 others(2): Show |
missense_variant | MODERATE | c.287G>A | p.Gly96Glu | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 385/1084 | 287/942 | 96/313 | chr15 | 22080911 | |||
chr15:22081006 | C | T | 2 | a0004 a0010 |
4 | HG00408.hp1 HG00597.hp1 NA18950.hp1 others(1): Show |
stop_gained | HIGH | c.382C>T | p.Arg128* | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 480/1084 | 382/942 | 128/313 | chr15 | 22081006 | |||
chr15:22081009 | C | T | 1 | a0009 | 1 | HG03492.hp1 | missense_variant | MODERATE | c.385C>T | p.Pro129Ser | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 483/1084 | 385/942 | 129/313 | chr15 | 22081009 | |||
chr15:22081155 | C | G | 1 | a0007 | 1 | HG01884.hp1 | stop_gained | HIGH | c.531C>G | p.Tyr177* | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 629/1084 | 531/942 | 177/313 | chr15 | 22081155 | |||
chr15:22081181 | G | A | 2 | a0004 a0010 |
4 | HG00408.hp1 HG00597.hp1 NA18950.hp1 others(1): Show |
missense_variant | MODERATE | c.557G>A | p.Arg186Gln | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 655/1084 | 557/942 | 186/313 | chr15 | 22081181 | |||
chr15:22081224 | C | G | 1 | a0005 | 2 | HG02074.hp1 NA18968.hp2 |
missense_variant | MODERATE | c.600C>G | p.Ile200Met | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 698/1084 | 600/942 | 200/313 | chr15 | 22081224 | |||
chr15:22081225 | T | G | 1 | a0005 | 2 | HG02074.hp1 NA18968.hp2 |
missense_variant | MODERATE | c.601T>G | p.Cys201Gly | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 699/1084 | 601/942 | 201/313 | chr15 | 22081225 | |||
chr15:22081228 | A | T | 2 | a0004 a0010 |
4 | HG00408.hp1 HG00597.hp1 NA18950.hp1 others(1): Show |
missense_variant | MODERATE | c.604A>T | p.Ser202Cys | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 702/1084 | 604/942 | 202/313 | chr15 | 22081228 | |||
chr15:22081297 | T | C | 8 | a0001 a0003 a0004 others(5): Show |
37 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(34): Show |
missense_variant | MODERATE | c.673T>C | p.Phe225Leu | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 771/1084 | 673/942 | 225/313 | chr15 | 22081297 | |||
chr15:22081328 | C | G | 2 | a0005 a0008 |
3 | HG02074.hp1 HG03130.hp2 NA18968.hp2 |
missense_variant | MODERATE | c.704C>G | p.Thr235Ser | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 802/1084 | 704/942 | 235/313 | chr15 | 22081328 | |||
chr15:22081475 | G | A | 2 | a0003 a0009 |
7 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(4): Show |
missense_variant | MODERATE | c.851G>A | p.Arg284His | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 949/1084 | 851/942 | 284/313 | chr15 | 22081475 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15:22080954 | G | A | 1 | a0008c0007 | 1 | HG03130.hp2 | synonymous_variant | LOW | c.330G>A | p.Ser110Ser | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 428/1084 | 330/942 | 110/313 | chr15 | 22080954 | |||
chr15:22081392 | C | T | 1 | a0001c0001 | 14 | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(11): Show |
synonymous_variant | LOW | c.768C>T | p.Ser256Ser | OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 1/1 | 866/1084 | 768/942 | 256/313 | chr15 | 22081392 |
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 |
---|
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 |
---|