regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1169): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 456 | 0.0022 | 1176 | c.*31 others(1187): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1169): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 456 | 0.0044 | 1176 | c.*31 others(1187): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(1169): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0060 | 1 | 346 | 0.0029 | 1176 | c.176 others(1195): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502703 | C | CGGGGGAC others(1169): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 188 | 0.0053 | 1176 | c.147 others(1193): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(1169): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0073 | 1 | 334 | 0.0030 | 1176 | c.45- others(1191): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1169): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 160 | 0.0063 | 1176 | c.389 others(1197): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251202 | A | AACACCAC others(1169): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 1176 | c.*45 others(1187): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3187 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251202 | A | AACACCAC others(1169): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 NA18983.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 3 | 375 | 0.0080 | 1176 | c.*45 others(1187): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3187 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272995 | T | TGAGACCC others(1169): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0008 | a0008c0013 | a0008c0013t0003 | a0008c0013t0003g0037 | 1 | 133 | 0.0075 | 1176 | c.438 others(1193): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273008 | A | AGGGCGAC others(1169): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 133 | 0.0075 | 1176 | c.438 others(1193): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289093 | C | CCGTGTCT others(1169): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 290 | 0.0035 | 1176 | c.166 others(1195): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1169): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0306a0002c0002t0003g0307 | 2 | 324 | 0.0062 | 1176 | c.115 others(1193): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1169): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 234 | 0.0043 | 1176 | c.128 others(1193): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(1169): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 HG03579.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0004t0001 | a0002c0003t0001g0096a0002c0003t0002g0095a0002c0004t0001g0129 | 3 | 150 | 0.0200 | 1176 | c.531 others(1193): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1169): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 1176 | c.*64 others(1187): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73860038 | T | TTTTTTTT others(1169): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0044 | a0001c0001t0027g0022a0001c0001t0044g0347 | 2 | 368 | 0.0054 | 1176 | c.111 others(1190): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STAMBP_chr2_73823961_73872168 | 73860038 | T | TTTTTTTT others(1169): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0328a0001c0001t0008g0329a0001c0001t0008g0330others(5): Show | 8 | 368 | 0.0217 | 1176 | c.111 others(1190): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1169): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 322 | 0.0031 | 1176 | c.597 others(1193): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1169): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020a0001c0002t0001g0034 | 2 | 392 | 0.0051 | 1176 | c.157 others(1195): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1169): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02976.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0015a0001c0001t0039a0001c0003t0017others(2): Show | a0001c0001t0015g0097a0001c0001t0039g0246a0001c0003t0017g0244others(5): Show | 8 | 256 | 0.0313 | 1176 | c.365 others(1193): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
ZNF208_chr19_21961095_22015943 | 21971662 | C | CGTACTAA others(1169): Show |
disruptive_inframe_insertion | MODERATE | NA18957.hp2 NA18993.hp1 |
a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0158a0018c0019t0001g0166 | 2 | 404 | 0.0050 | 1176 | c.219 others(1185): Show |
p.Thr others(1191): Show |
ZNF208 | ENSG00000160321.16 | transcript | ENST00000397126.9 | protein_coding | 4/4 | 3520/9088 | 3371/3843 | 1124/1280 | chr19 | TogoVar | ||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(1170): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 182 | 0.0055 | 1177 | c.505 others(1196): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACAG others(1170): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 368 | 0.0027 | 1177 | c.401 others(1194): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1170): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 258 | 0.0039 | 1177 | c.403 others(1192): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1170): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 258 | 0.0039 | 1177 | c.403 others(1192): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1170): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 258 | 0.0039 | 1177 | c.403 others(1192): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648351 | C | CGCCGACG others(1170): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 392 | 0.0026 | 1177 | c.252 others(1193): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1170): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 320 | 0.0031 | 1177 | c.380 others(1194): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255845 | G | GAGGGGGA others(1170): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0105 | a0003c0105t0001 | a0003c0105t0001g0235 | 1 | 344 | 0.0029 | 1177 | c.85- others(1194): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1170): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0181 | 1 | 272 | 0.0037 | 1177 | c.109 others(1196): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1170): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0075 | 1 | 272 | 0.0037 | 1177 | c.109 others(1196): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1170): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 272 | 0.0037 | 1177 | c.109 others(1196): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(1170): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0100 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18953.hp1 NA18993.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063a0002c0002t0001g0068a0002c0002t0001g0069 | 3 | 396 | 0.0076 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0253a0002c0002t0001g0097 | 2 | 396 | 0.0051 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(183): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0011others(177): Show | 186 | 396 | 0.4697 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02523.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0341a0002c0002t0001g0035 | 2 | 396 | 0.0051 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01884.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0149a0001c0001t0001g0188a0001c0001t0001g0210others(22): Show | 25 | 396 | 0.0631 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02135.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0020 | a0001c0001t0001g0152a0001c0001t0013g0274a0001c0001t0013g0288others(1): Show | 4 | 396 | 0.0101 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0365 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0010a0001c0001t0001g0174a0001c0001t0001g0194others(9): Show | 13 | 396 | 0.0328 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0209 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001a0001c0001t0004g0012a0001c0001t0004g0361 | 8 | 396 | 0.0202 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 2 | 396 | 0.0051 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1170): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 396 | 0.0025 | 1177 | c.218 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(1170): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 1177 | c.-42 others(1188): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar |