| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | 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 | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLGAP2_chr8_732628_1713476 | 993441 | A | AGACCCCC others(749): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0037 | 1 | 40 | 0.0250 | 756 | c.73+ others(773): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1206322 | T | TGGGGTAG others(749): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0030 | 1 | 40 | 0.0250 | 756 | c.74- others(773): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619208 | C | CTCCCTGC others(749): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 250 | 0.0040 | 756 | c.-10 others(775): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| DYNC2I1_chr7_158851558_158951189 | 158917519 | G | GCCTCTCA others(749): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 274 | 0.0037 | 756 | c.179 others(775): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3221310 | A | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0001g0133 others(4): Show |
7 | 250 | 0.0280 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221418 | A | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01192.hp2 HG02273.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097 a0001c0001t0001g0190 a0001c0001t0002g0002 others(10): Show |
13 | 250 | 0.0520 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221418 | A | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 250 | 0.0040 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221472 | G | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0045 |
2 | 250 | 0.0080 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221526 | A | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01123.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 others(17): Show |
20 | 250 | 0.0800 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221596 | C | GGGAACAC others(749): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 250 | 0.0040 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221634 | A | ACACTCAC others(749): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 250 | 0.0040 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| EIPR1_chr2_3183970_3382818 | 3221650 | G | GGGAACAC others(749): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 250 | 0.0040 | 756 | c.417 others(773): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG03704.hp1 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 2 | 400 | 0.0050 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01993.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 3 | 400 | 0.0075 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01433.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 16 | 400 | 0.0400 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 NA18979.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0150 a0001c0008t0001g0129 a0001c0008t0001g0142 |
3 | 400 | 0.0075 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0044 a0001c0002t0001g0162 |
18 | 400 | 0.0450 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 3 | 400 | 0.0075 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03654.hp2 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0145 |
3 | 400 | 0.0075 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(749): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 400 | 0.0025 | 756 | c.103 others(771): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(749): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03209.hp2 HG03491.hp1 others(2): Show |
a0001a0002a0011 | a0001c0002a0001c0039a0002c0001others(1): Show | a0001c0002t0001a0001c0039t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0085 a0001c0039t0001g0084 a0002c0001t0001g0108 others(2): Show |
5 | 208 | 0.0240 | 756 | c.282 others(775): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(749): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03453.hp1 HG04204.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0013 | a0001c0002t0001a0002c0001t0001a0004c0013t0006 | a0001c0002t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0132 others(1): Show |
4 | 208 | 0.0192 | 756 | c.282 others(775): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355592 | G | GGAGGAAG others(749): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 82 | 0.0122 | 756 | c.757 others(771): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38946697 | T | TAAAAATA others(749): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 344 | 0.0087 | 756 | c.617 others(773): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| GALNS_chr16_88808734_88861947 | 88831475 | C | CGAGCACG others(749): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 404 | 0.0025 | 756 | c.100 others(773): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
| GPIHBP1_chr8_143208218_143222170 | 143218250 | A | ACCCACCA others(749): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 756 | c.*27 others(767): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1081 | chr8 | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(749): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 314 | 0.0032 | 756 | c.-25 others(773): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| IDE_chr10_92446684_92579093 | 92524517 | A | ATATATTA others(749): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 314 | 0.0032 | 756 | c.661 others(773): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
| IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(749): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 | 1 | 362 | 0.0028 | 756 | c.968 others(771): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
| IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(749): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02074.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0032 others(5): Show |
15 | 440 | 0.0341 | 756 | c.103 others(773): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132772195 | T | TGAAGAGT others(749): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 204 | 0.0049 | 756 | c.978 others(773): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(749): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19002.hp1 NA19012.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0039 a0002c0004t0001g0258 a0002c0004t0001g0301 |
3 | 312 | 0.0096 | 756 | c.-41 others(771): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(749): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0063 | a0063c0048 | a0063c0048t0001 | a0063c0048t0001g0026 | 1 | 374 | 0.0027 | 756 | c.735 others(773): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(749): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 | 1 | 242 | 0.0041 | 756 | c.174 others(775): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(749): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0223 | 1 | 308 | 0.0033 | 756 | c.*66 others(767): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(749): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0093 | 1 | 260 | 0.0039 | 756 | c.125 others(773): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(749): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0104 | 1 | 290 | 0.0035 | 756 | c.129 others(775): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364409 | A | ACGCCCAC others(749): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 290 | 0.0035 | 756 | c.129 others(775): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(749): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 330 | 0.0030 | 756 | c.197 others(775): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
| MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(749): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0006 | a0006c0025 | a0006c0025t0020 | a0006c0025t0020g0283 | 1 | 292 | 0.0034 | 756 | c.377 others(773): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(749): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0053 | 1 | 278 | 0.0036 | 756 | c.115 others(773): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(749): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0259 | 1 | 278 | 0.0036 | 756 | c.115 others(773): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17876784 | G | GGGAGGTT others(749): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0191 | 1 | 274 | 0.0037 | 756 | c.224 others(775): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(749): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0136 | 1 | 274 | 0.0037 | 756 | c.224 others(775): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(749): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 394 | 0.0025 | 756 | c.315 others(773): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |