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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1007): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0105 | 2 | 288 | 0.0069 | 1014 | c.672 others(1029): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1007): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG01517.hp2 others(29): Show |
a0001a0012 | a0001c0001a0012c0010 | a0001c0001t0001a0001c0001t0002a0012c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0050others(28): Show | 32 | 288 | 0.1111 | 1014 | c.672 others(1029): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1007): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01081.hp2 others(12): Show |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0172others(12): Show | 15 | 288 | 0.0521 | 1014 | c.672 others(1029): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1007): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 288 | 0.0035 | 1014 | c.672 others(1029): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1007): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 288 | 0.0035 | 1014 | c.672 others(1029): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1007): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0207 | 1 | 236 | 0.0042 | 1014 | c.342 others(1035): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1007): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0201 | 1 | 236 | 0.0042 | 1014 | c.342 others(1035): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1007): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 236 | 0.0042 | 1014 | c.342 others(1035): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114199743 | G | GTGCTTAC others(1007): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312a0001c0001t0002g0316 | 2 | 400 | 0.0050 | 1014 | c.172 others(1029): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400154 | C | CCACCACC others(1007): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001a0010 | a0001c0032a0010c0091 | a0001c0032t0006a0010c0091t0001 | a0001c0032t0006g0127a0010c0091t0001g0076 | 2 | 256 | 0.0078 | 1014 | c.323 others(1031): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634881 | T | TCCCCTTC others(1007): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 250 | 0.0040 | 1014 | c.105 others(1031): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGGAAG others(1007): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 82 | 0.0122 | 1014 | c.757 others(1029): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1007): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 408 | 0.0025 | 1014 | c.-14 others(1033): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 320 | 0.0031 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(161): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0023others(159): Show | 164 | 320 | 0.5125 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 320 | 0.0031 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 320 | 0.0031 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0068 | a0001c0001t0026g0051a0001c0001t0026g0052a0001c0001t0068g0025 | 3 | 320 | 0.0094 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1007): Show |
intron_variant | MODIFIER | HG03540.hp2 HG06807.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0064a0001c0001t0070 | a0001c0001t0033g0283a0001c0001t0064g0245a0001c0001t0070g0196 | 3 | 320 | 0.0094 | 1014 | c.-8- others(1029): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF3C5_chr9_133025997_133063503 | 133028380 | T | TCCCCCCC others(1007): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | 1014 | c.-26 others(1025): Show |
GTF3C5 | ENSG00000148308.18 | transcript | ENST00000372097.10 | protein_coding | 2616 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322940 | T | TATATATA others(1007): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0056 | 1 | 323 | 0.0031 | 1014 | c.-21 others(1025): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2029 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323151 | T | TATATATA others(1007): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 323 | 0.0031 | 1014 | c.-19 others(1025): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1818 | chr21 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997290 | T | TCGGGGGA others(1007): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0183 | 1 | 375 | 0.0027 | 1014 | c.-21 others(1025): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 380 | chr6 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1007): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0014 | 1 | 242 | 0.0041 | 1014 | c.174 others(1033): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1007): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 318 | 0.0031 | 1014 | c.-49 others(1025): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(1007): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0023 | a0001c0023t0004 | a0001c0023t0004g0245 | 1 | 278 | 0.0036 | 1014 | c.115 others(1031): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1007): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 194 | 0.0052 | 1014 | c.-12 others(1033): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1007): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1014 | c.*31 others(1025): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1007): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1014 | c.*31 others(1025): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46383317 | C | CGTTCAGT others(1007): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02735.hp1 HG02896.hp2 others(1): Show |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0007a0008c0007t0001g0008a0008c0007t0001g0009others(1): Show | 4 | 332 | 0.0121 | 1014 | c.331 others(1033): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1007): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02630.hp2 others(3): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0032a0006c0006t0001g0035a0006c0006t0001g0036others(3): Show | 6 | 308 | 0.0195 | 1014 | c.371 others(1031): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1007): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0044 | 1 | 308 | 0.0033 | 1014 | c.371 others(1031): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1007): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0023 | a0023c0022 | a0023c0022t0001 | a0023c0022t0001g0009 | 1 | 308 | 0.0033 | 1014 | c.371 others(1031): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1007): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0183 | 1 | 372 | 0.0027 | 1014 | c.367 others(1029): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1007): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0079 | 1 | 295 | 0.0034 | 1014 | c.715 others(1031): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1007): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0070 | 1 | 295 | 0.0034 | 1014 | c.715 others(1031): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1007): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 295 | 0.0034 | 1014 | c.715 others(1031): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1007): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 295 | 0.0034 | 1014 | c.715 others(1031): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAG others(1007): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0285 | 1 | 295 | 0.0034 | 1014 | c.715 others(1031): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGCCCC others(1007): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 330 | 0.0030 | 1014 | c.-49 others(1025): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(1007): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 304 | 0.0033 | 1014 | c.66+ others(1029): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1007): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0005 | a0005c0059 | a0005c0059t0001 | a0005c0059t0001g0115 | 1 | 334 | 0.0030 | 1014 | c.45- others(1029): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(1007): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 133 | 0.0075 | 1014 | c.-33 others(1025): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1007): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 268 | 0.0037 | 1014 | c.*73 others(1025): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1007): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 268 | 0.0037 | 1014 | c.*73 others(1025): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TPCN2_chr11_69043932_69095597 | 69077105 | T | TTGCCCTC others(1007): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01257.hp1 others(2): Show |
a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0004 | 5 | 404 | 0.0124 | 1014 | c.123 others(1033): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870129 | C | CACCACAC others(1007): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 338 | 0.0030 | 1014 | c.*35 others(1033): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1007): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0025 | 1 | 202 | 0.0050 | 1014 | c.*53 others(1025): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ZNF618_chr9_113871309_114061593 | 113900612 | C | CGTCTCCT others(1007): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0253 | 1 | 264 | 0.0038 | 1014 | c.33+ others(1031): Show |
ZNF618 | ENSG00000157657.15 | transcript | ENST00000374126.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025446 | A | ACAGACCC others(1008): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0021 | a0001c0021t0013 | a0001c0021t0013g0015 | 1 | 248 | 0.0040 | 1015 | c.387 others(1034): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar |