Exonic SNPs and indels of target region on chromosome 6 detected by NGS in 24 discordant VTE sibling pairs
| Variant . | BP . | Gene . | Alt . | Ref . | MAF . | Effect . | Geno . | AA change . |
|---|---|---|---|---|---|---|---|---|
| rs6910140 | 70944257 | COL9A1 | C | T | 0.013 | Nonsyn | 47/1/0 | COL9A1:NM_078485:exon29:c.A1570G:p.M524V,COL9A1:NM_001851:exon35:c.A2299G:p.M767V |
| rs1135056 | 70961833 | COL9A1 | C | T | 0.407 | Nonsyn | 20/22/6 | COL9A1:NM_078485:exon22:c.A1133G:p.Q378R,COL9A1:NM_001851:exon28:c.A1862G:p.Q621R |
| rs592121 | 70984436 | COL9A1 | G | A | 0.367 | Nonsyn | 22/19/7 | COL9A1:NM_078485:exon5:c.T286C:p.S96P,COL9A1:NM_001851:exon11:c.T1015C:p.S339P |
| rs2747701 | 71238105 | FAM135A | G | A | 0.451 | Nonsyn | 19/17/12 | FAM135A:NM_001162529:exon14:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G |
| rs1048886 | 71289189 | C6orf57 | G | A | 0.206 | Nonsyn | 31/14/3 | C6orf57:NM_145267:exon2:c.A137G:p.Q46R |
| rs146446063 | 71298323 | C6orf57 | T | C | 0.007 | Nonsyn | 44/4/0 | C6orf57:NM_145267:exon3:c.C223T:p.P75S |
| rs112439957 | 71377781 | SMAP1 | A | C | 0.008 | Nonsyn | 44/4/0 | SMAP1:NM_001044305:exon1:c.C55A:p.L19I,SMAP1:NM_001281439:exon1:c.C55A:p.L19I,SMAP1:NM_021940:exon1:c.C55A:p.L19I |
| rs200042613 | 71378354 | SMAP1 | A | AC | 0.033 | Frameshift deletion | 45/3/0 | SMAP1:NM_001281440:exon1:c.24delC:p.H8fs |
| rs2273566 | 71546702 | SMAP1 | T | C | 0.084 | Nonsyn | 40/8/0 | SMAP1:NM_001281439:exon6:c.C554T:p.A185V,SMAP1:NM_021940:exon6:c.C554T:p.A185V,SMAP1:NM_001044305:exon7:c.C635T:p.A212V,SMAP1:NM_001281440:exon7:c.C605T:p.A202V |
| rs201201431 | 71569066 | SMAP1 | CCAT | C | 0.034 | Non-frameshift insertion | 45/3/0 | SMAP1:NM_001281439:exon10:c.1223_1224insCAT:p.S408delinsSI |
| rs576516 | 71569090 | SMAP1 | C | T | 0.442 | Nonsyn. | 14/28/6 | SMAP1:NM_001281439:exon10:c.T1247C:p.M416T |
| rs200678168 | 71665982 | B3GAT2 | C | G | 0.018 | Nonsyn. | 43/5/0 | B3GAT2:NM_080742:exon1:c.C151G:p.R51G |
| rs112585190 | 71998778 | OGFRL1 | C | T | 0.118 | Nonsyn. | 36/11/1 | OGFRL1:NM_024576:exon1:c.T139C:p.S47P |
| rs72265796 | 72011579 | OGFRL1 | G | GAGA | 0.029 | Non-frameshift deletion | 46/2/0 | OGFRL1:NM_024576:exon7:c.1184_1186del:p.395_396del |
| rs767118962 | 72943520 | RIMS1 | T | C | Nonsyn | 47/1/0 | RIMS1:NM_001168407:exon2:c.C145T:p.R49W,RIMS1:NM_001168408:exon2:c.C145T:p.R49W,RIMS1:NM_001168410:exon2:c.C100T:p.R34W,RIMS1:NM_014989:exon7:c.C1723T:p.R575W | |
| rs764264653 | 72952068 | RIMS1 | G | A | Nonsyn | 47/1/0 | RIMS1:NM_001168407:exon5:c.A431G:p.E144G,RIMS1:NM_001168408:exon5:c.A431G:p.E144G,RIMS1:NM_001168409:exon5:c.A188G:p.E63G,RIMS1:NM_001168410:exon5:c.A386G:p.E129G,RIMS1:NM_014989:exon10:c.A2009G:p.E670G | |
| rs41265501 | 72984123 | RIMS1 | T | C | 0.025 | Nonsyn | 45/3/0 | RIMS1:NM_014989:exon23:c.C3470T:p.P1157L |
| Variant . | BP . | Gene . | Alt . | Ref . | MAF . | Effect . | Geno . | AA change . |
|---|---|---|---|---|---|---|---|---|
| rs6910140 | 70944257 | COL9A1 | C | T | 0.013 | Nonsyn | 47/1/0 | COL9A1:NM_078485:exon29:c.A1570G:p.M524V,COL9A1:NM_001851:exon35:c.A2299G:p.M767V |
| rs1135056 | 70961833 | COL9A1 | C | T | 0.407 | Nonsyn | 20/22/6 | COL9A1:NM_078485:exon22:c.A1133G:p.Q378R,COL9A1:NM_001851:exon28:c.A1862G:p.Q621R |
| rs592121 | 70984436 | COL9A1 | G | A | 0.367 | Nonsyn | 22/19/7 | COL9A1:NM_078485:exon5:c.T286C:p.S96P,COL9A1:NM_001851:exon11:c.T1015C:p.S339P |
| rs2747701 | 71238105 | FAM135A | G | A | 0.451 | Nonsyn | 19/17/12 | FAM135A:NM_001162529:exon14:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G |
| rs1048886 | 71289189 | C6orf57 | G | A | 0.206 | Nonsyn | 31/14/3 | C6orf57:NM_145267:exon2:c.A137G:p.Q46R |
| rs146446063 | 71298323 | C6orf57 | T | C | 0.007 | Nonsyn | 44/4/0 | C6orf57:NM_145267:exon3:c.C223T:p.P75S |
| rs112439957 | 71377781 | SMAP1 | A | C | 0.008 | Nonsyn | 44/4/0 | SMAP1:NM_001044305:exon1:c.C55A:p.L19I,SMAP1:NM_001281439:exon1:c.C55A:p.L19I,SMAP1:NM_021940:exon1:c.C55A:p.L19I |
| rs200042613 | 71378354 | SMAP1 | A | AC | 0.033 | Frameshift deletion | 45/3/0 | SMAP1:NM_001281440:exon1:c.24delC:p.H8fs |
| rs2273566 | 71546702 | SMAP1 | T | C | 0.084 | Nonsyn | 40/8/0 | SMAP1:NM_001281439:exon6:c.C554T:p.A185V,SMAP1:NM_021940:exon6:c.C554T:p.A185V,SMAP1:NM_001044305:exon7:c.C635T:p.A212V,SMAP1:NM_001281440:exon7:c.C605T:p.A202V |
| rs201201431 | 71569066 | SMAP1 | CCAT | C | 0.034 | Non-frameshift insertion | 45/3/0 | SMAP1:NM_001281439:exon10:c.1223_1224insCAT:p.S408delinsSI |
| rs576516 | 71569090 | SMAP1 | C | T | 0.442 | Nonsyn. | 14/28/6 | SMAP1:NM_001281439:exon10:c.T1247C:p.M416T |
| rs200678168 | 71665982 | B3GAT2 | C | G | 0.018 | Nonsyn. | 43/5/0 | B3GAT2:NM_080742:exon1:c.C151G:p.R51G |
| rs112585190 | 71998778 | OGFRL1 | C | T | 0.118 | Nonsyn. | 36/11/1 | OGFRL1:NM_024576:exon1:c.T139C:p.S47P |
| rs72265796 | 72011579 | OGFRL1 | G | GAGA | 0.029 | Non-frameshift deletion | 46/2/0 | OGFRL1:NM_024576:exon7:c.1184_1186del:p.395_396del |
| rs767118962 | 72943520 | RIMS1 | T | C | Nonsyn | 47/1/0 | RIMS1:NM_001168407:exon2:c.C145T:p.R49W,RIMS1:NM_001168408:exon2:c.C145T:p.R49W,RIMS1:NM_001168410:exon2:c.C100T:p.R34W,RIMS1:NM_014989:exon7:c.C1723T:p.R575W | |
| rs764264653 | 72952068 | RIMS1 | G | A | Nonsyn | 47/1/0 | RIMS1:NM_001168407:exon5:c.A431G:p.E144G,RIMS1:NM_001168408:exon5:c.A431G:p.E144G,RIMS1:NM_001168409:exon5:c.A188G:p.E63G,RIMS1:NM_001168410:exon5:c.A386G:p.E129G,RIMS1:NM_014989:exon10:c.A2009G:p.E670G | |
| rs41265501 | 72984123 | RIMS1 | T | C | 0.025 | Nonsyn | 45/3/0 | RIMS1:NM_014989:exon23:c.C3470T:p.P1157L |
AA, amino acid; BP: base pair position; Geno, genotype count (homozygous Ref/heterozygous/homozygous Alt).