| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIF3B_chr20_32272651_32340011 | 32322764 | A | ATATTTAT others(717): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 104 | 0.0096 | 724 | c.174 others(743): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(717): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 207 | 0.0048 | 724 | c.126 others(741): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857768 | C | CGGGTGTG others(717): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0048 | a0006c0048t0006 | a0006c0048t0006g0108 | 1 | 275 | 0.0036 | 724 | c.153 others(743): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(717): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0150 | 1 | 8 | 0.1250 | 724 | c.115 others(741): 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(717): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0005 | a0005c0067 | a0005c0067t0001 | a0005c0067t0001g0063 | 1 | 229 | 0.0044 | 724 | c.224 others(743): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(717): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0163 | 1 | 6 | 0.1667 | 724 | c.-8+ others(737): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0076 | 1 | 156 | 0.0064 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18944.hp2 NA18948.hp2 others(1): Show |
a0001a0004a0011 | a0001c0002a0004c0006a0011c0017 | a0001c0002t0001a0001c0002t0002a0004c0006t0004others(1): Show | a0001c0002t0001g0117 a0001c0002t0002g0112 a0004c0006t0004g0111 others(1): Show |
4 | 159 | 0.0252 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19084.hp1 |
a0004a0007 | a0004c0006a0007c0015 | a0004c0006t0004a0007c0015t0003 | a0004c0006t0004g0114 a0007c0015t0003g0066 |
2 | 157 | 0.0127 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0074 | 1 | 156 | 0.0064 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(717): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 156 | 0.0064 | 724 | c.358 others(741): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535807 | A | AGGGGCAA others(717): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0184 | 1 | 278 | 0.0036 | 724 | c.140 others(741): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535856 | C | CCCGGGGC others(717): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 320 | 0.0031 | 724 | c.140 others(741): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(717): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 182 | 0.0055 | 724 | c.-26 others(735): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(717): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 724 | c.-26 others(735): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(717): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 5 | 0.2000 | 724 | c.*15 others(735): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(717): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 140 | 0.0071 | 724 | c.309 others(743): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(717): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 19 | 0.0526 | 724 | c.24+ others(741): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 9 | 0.1111 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 9 | 0.1111 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 9 | 0.1111 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0104 |
3 | 11 | 0.2727 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01069.hp1 others(57): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001a0001c0004t0002 | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0023 others(27): Show |
60 | 68 | 0.8824 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 others(10): Show |
34 | 42 | 0.8095 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227454 | G | GCCCTCCT others(717): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 a0001c0001t0002g0197 |
2 | 10 | 0.2000 | 724 | c.449 others(739): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(717): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0046 | a0001c0046t0022 | a0001c0046t0022g0091 | 1 | 45 | 0.0222 | 724 | c.332 others(743): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0264 a0001c0002t0006g0265 a0001c0002t0006g0266 |
3 | 181 | 0.0166 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | |||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0004 others(18): Show |
22 | 200 | 0.1100 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | |||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0002t0002g0039 |
3 | 181 | 0.0166 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | |||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 179 | 0.0056 | 724 | c.*55 others(735): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | |||||||
| SLC6A12_chr12_185081_219157 | 197198 | C | CATCCATC others(717): Show |
intron_variant | MODIFIER | NA18978.hp1 NA19002.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0315 a0002c0003t0003g0335 |
2 | 397 | 0.0050 | 724 | c.107 others(741): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
| SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGAGAAGG others(717): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0025 | 1 | 330 | 0.0030 | 724 | c.115 others(741): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(717): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 159 | 0.0063 | 724 | c.719 others(743): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35914071 | T | TGTGTGTG others(717): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 338 | 0.0030 | 724 | c.*33 others(735): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2386 | chr9 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1628736 | A | AGGGGGTG others(717): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0182 | 1 | 312 | 0.0032 | 724 | c.299 others(741): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1628736 | A | AGGGGTGA others(717): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0018 | a0018c0034 | a0018c0034t0010 | a0018c0034t0010g0146 | 1 | 312 | 0.0032 | 724 | c.299 others(741): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TERT_chr5_1248167_1300068 | 1273665 | A | ACATCAGA others(717): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 373 | 0.0027 | 724 | c.228 others(743): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0141 a0001c0004t0002g0142 a0001c0004t0002g0171 |
3 | 214 | 0.0140 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0005g0012 a0001c0001t0005g0021 others(11): Show |
22 | 233 | 0.0944 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 NA19030.hp1 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0003a0006c0015t0001 | a0001c0001t0003g0147 a0001c0001t0003g0179 a0006c0015t0001g0116 |
3 | 214 | 0.0140 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 212 | 0.0047 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(717): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0145 | 1 | 212 | 0.0047 | 724 | c.*34 others(735): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0020a0002c0002t0037 | a0002c0002t0005g0009 a0002c0002t0005g0010 a0002c0002t0005g0167 others(9): Show |
15 | 51 | 0.2941 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0004 | 2 | 38 | 0.0526 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(717): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0166 | 1 | 37 | 0.0270 | 724 | c.327 others(741): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507099 | G | GTGTATAT others(717): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 372 | 0.0027 | 724 | c.-23 others(741): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(717): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 62 | 0.0161 | 724 | c.*53 others(735): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8467332 | T | TGTGTGGG others(717): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0011 | 1 | 270 | 0.0037 | 724 | c.*94 others(733): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 823 | chrX | TogoVar | |||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(717): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 NA18522.hp1 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0003 | a0002c0004t0001g0029 a0002c0004t0003g0030 |
3 | 121 | 0.0248 | 724 | c.*51 others(735): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(717): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02738.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018 a0002c0004t0001g0027 |
3 | 121 | 0.0248 | 724 | c.*51 others(735): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar |