| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01261.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 a0002c0002t0001g0306 a0002c0002t0001g0307 others(5): Show |
8 | 334 | 0.0240 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 334 | 0.0030 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 334 | 0.0030 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 334 | 0.0030 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | NA18982.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 |
2 | 334 | 0.0060 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(461): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 334 | 0.0030 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(461): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0186 |
2 | 334 | 0.0060 | 468 | c.838 others(483): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128784 | C | CCCCACAG others(461): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203 | 1 | 406 | 0.0025 | 468 | c.806 others(483): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(461): Show |
3_prime_UTR_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0055 | 1 | 256 | 0.0039 | 468 | c.*39 others(477): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144686882 | A | ACACTAGC others(461): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 246 | 0.0041 | 468 | c.-12 others(479): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1037 | chr8 | TogoVar | |||||||
| ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(461): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 300 | 0.0033 | 468 | c.655 others(487): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
| ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTCATTC others(461): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0015 | a0015c0047 | a0015c0047t0001 | a0015c0047t0001g0055 | 1 | 300 | 0.0033 | 468 | c.654 others(487): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
| ATP13A3_chr3_194397677_194492002 | 194421137 | G | GTTTATAT others(461): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 304 | 0.0033 | 468 | c.331 others(487): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
| ATP9B_chr18_79064394_79383283 | 79309014 | A | AGCAGGTA others(461): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0099 | 1 | 298 | 0.0034 | 468 | c.177 others(487): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792993 | G | GTGATGGT others(461): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087 | 1 | 292 | 0.0034 | 468 | c.*21 others(483): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 411119 | C | CCTGCTGG others(461): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0095 | a0002c0003t0095g0121 | 1 | 322 | 0.0031 | 468 | c.-21 others(479): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1973 | chr19 | TogoVar | |||||||
| CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(461): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0020 | 1 | 142 | 0.0070 | 468 | c.244 others(487): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
| CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(461): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0035 | a0035c0078 | a0035c0078t0001 | a0035c0078t0001g0217 | 1 | 410 | 0.0024 | 468 | c.-22 others(485): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(461): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 256 | 0.0039 | 468 | c.-45 others(489): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDC73_chr1_193117031_193259815 | 193161730 | A | ATATATAA others(461): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 274 | 0.0037 | 468 | c.972 others(485): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(461): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA18939.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0007a0001c0006t0005 | a0001c0001t0002g0118 a0001c0001t0002g0153 a0001c0001t0007g0009 others(1): Show |
4 | 338 | 0.0118 | 468 | c.-34 others(479): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(461): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 354 | 0.0028 | 468 | c.*69 others(479): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
| CFAP97D2_chr13_114174257_114228085 | 114198619 | T | TGGTCCCC others(461): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0039 a0001c0001t0001g0114 a0001c0001t0001g0220 others(10): Show |
13 | 400 | 0.0325 | 468 | c.172 others(485): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CFAP97D2_chr13_114174257_114228085 | 114199357 | G | GTACGGTC others(461): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0230 a0001c0001t0004g0264 |
2 | 400 | 0.0050 | 468 | c.172 others(483): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101223530 | T | TACTTCCA others(461): Show |
intron_variant | MODIFIER | NA18978.hp1 NA18984.hp2 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0002a0003c0006t0006 | a0002c0002t0002g0071 a0003c0006t0006g0377 |
2 | 422 | 0.0047 | 468 | c.816 others(487): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
| CIP2A_chr3_108544864_108594438 | 108575563 | T | TATATATA others(461): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0282 |
2 | 372 | 0.0054 | 468 | c.894 others(483): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
| CIP2A_chr3_108544864_108594438 | 108575597 | T | CGTATATA others(461): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 372 | 0.0027 | 468 | c.894 others(483): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(461): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0322 | 1 | 346 | 0.0029 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(461): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0133 | 1 | 346 | 0.0029 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(461): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0132 | 1 | 346 | 0.0029 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202393 | A | ACCCTCCT others(461): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0109 | 1 | 346 | 0.0029 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202413 | G | GGCACCTC others(461): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02145.hp2 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0125 a0003c0005t0001g0128 a0003c0005t0001g0131 others(3): Show |
6 | 346 | 0.0173 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| CLTCL1_chr22_19174473_19296719 | 19202413 | G | GGCACCTC others(461): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0138 | 1 | 346 | 0.0029 | 468 | c.360 others(485): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
| COL18A1_chr21_45400165_45518720 | 45500881 | T | TGTGTGTT others(461): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0021 | a0021c0098 | a0021c0098t0001 | a0021c0098t0001g0245 | 1 | 292 | 0.0034 | 468 | c.268 others(487): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56098448 | T | TAAATATA others(461): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 264 | 0.0038 | 468 | c.181 others(487): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255766 | A | AAGGGGGA others(461): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 344 | 0.0029 | 468 | c.85- others(485): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| CPNE7_chr16_89570758_89602246 | 89588091 | G | GCCCCCGT others(461): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0206 | 1 | 348 | 0.0029 | 468 | c.928 others(483): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137947002 | A | ATATATAT others(461): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0007 | a0001c0007t0066 | a0001c0007t0066g0239 | 1 | 288 | 0.0035 | 468 | c.103 others(487): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
| CSF2RA_chrX_1263814_1314935 | 1284660 | A | ATTTTTTT others(461): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0082 | 1 | 159 | 0.0063 | 468 | c.77- others(483): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(461): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0015 | a0002c0015t0021 | a0002c0015t0021g0008 | 1 | 126 | 0.0079 | 468 | c.416 others(489): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(461): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0030 | 1 | 230 | 0.0044 | 468 | c.724 others(487): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(461): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 230 | 0.0044 | 468 | c.724 others(487): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 408158 | T | TGTCTCCG others(461): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 367 | 0.0027 | 468 | c.337 others(483): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCGC others(461): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0033 | 1 | 320 | 0.0031 | 468 | c.*39 others(479): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 477408 | A | ACGGGGGG others(461): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0017 | a0001c0017t0009 | a0001c0017t0009g0073 | 1 | 88 | 0.0114 | 468 | c.158 others(485): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DNAI7_chr12_25103289_25200160 | 25106536 | C | CTTAAATA others(461): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(67): Show |
70 | 336 | 0.2083 | 468 | c.*20 others(479): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1752 | chr12 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 400755 | T | TCACCACC others(461): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0009 | a0009c0035 | a0009c0035t0015 | a0009c0035t0015g0218 | 1 | 256 | 0.0039 | 468 | c.323 others(487): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| FBXO34_chr14_55266421_55358611 | 55331759 | A | ATACCACC others(461): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01934.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192 a0001c0001t0005g0230 a0001c0001t0005g0232 others(1): Show |
4 | 334 | 0.0120 | 468 | c.-10 others(487): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FMO1_chr1_171243494_171290961 | 171264862 | T | TCACTCCT others(461): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 312 | 0.0032 | 468 | c.133 others(485): Show |
FMO1 | ENSG00000010932.17 | transcript | ENST00000617670.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GALNS_chr16_88808734_88861947 | 88831427 | G | GAGCGGTG others(461): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0345 | 1 | 404 | 0.0025 | 468 | c.100 others(485): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar |