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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCLK2_chr4_150073445_150262438 | 150250962 | C | CCAACACC others(968): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 116 | 0.0086 | 975 | c.207 others(994): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(968): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 148 | 0.0068 | 975 | c.183 others(994): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400013 | T | TCACCATC others(968): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0007 | a0007c0078 | a0007c0078t0001 | a0007c0078t0001g0035 | 1 | 256 | 0.0039 | 975 | c.323 others(992): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp1 HG04184.hp1 |
a0051 | a0051c0057 | a0051c0057t0001 | a0051c0057t0001g0073a0051c0057t0001g0098 | 2 | 426 | 0.0047 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 | a0011 | a0011c0175 | a0011c0175t0001 | a0011c0175t0001g0111 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 NA19003.hp2 |
a0117a0134 | a0117c0168a0134c0152 | a0117c0168t0001a0134c0152t0001 | a0117c0168t0001g0121a0134c0152t0001g0120 | 2 | 426 | 0.0047 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18982.hp2 | a0057 | a0057c0187 | a0057c0187t0001 | a0057c0187t0001g0128 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp1 | a0137 | a0137c0157 | a0137c0157t0001 | a0137c0157t0001g0070 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02273.hp1 | a0135 | a0135c0158 | a0135c0158t0001 | a0135c0158t0001g0067 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(132): Show |
a0001a0004a0011others(45): Show | a0001c0001a0001c0058a0001c0170others(48): Show | a0001c0001t0001a0001c0058t0001a0001c0170t0001others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0017others(66): Show | 135 | 426 | 0.3169 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | NA18966.hp1 NA18981.hp2 NA19080.hp1 others(1): Show |
a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0014 | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG02970.hp1 HG03130.hp1 others(2): Show |
a0026a0111a0112 | a0026c0033a0111c0137a0112c0180 | a0026c0033t0001a0111c0137t0001a0112c0180t0001 | a0026c0033t0001g0024a0111c0137t0001g0131a0112c0180t0001g0132 | 5 | 426 | 0.0117 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp1 HG02027.hp2 HG02040.hp1 others(1): Show |
a0034a0063a0072 | a0034c0054a0063c0135a0072c0134 | a0034c0054t0001a0063c0135t0001a0072c0134t0001 | a0034c0054t0001g0064a0063c0135t0001g0234a0072c0134t0001g0233 | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp2 | a0160 | a0160c0191 | a0160c0191t0001 | a0160c0191t0001g0137 | 1 | 426 | 0.0024 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(968): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG03098.hp2 HG03516.hp2 others(1): Show |
a0055a0158a0159 | a0055c0062a0158c0190a0159c0189 | a0055c0062t0001a0158c0190t0001a0159c0189t0001 | a0055c0062t0001g0134a0055c0062t0001g0136a0158c0190t0001g0135others(1): Show | 4 | 426 | 0.0094 | 975 | c.106 others(986): Show |
p.His others(990): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | ||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(968): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 308 | 0.0033 | 975 | c.157 others(990): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241397 | C | CTTCCCAG others(968): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 183 | 0.0055 | 975 | c.107 others(994): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252890 | C | CCACCACC others(968): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 366 | 0.0027 | 975 | c.666 others(992): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(968): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 204 | 0.0049 | 975 | c.978 others(992): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868100 | A | AATGTAAT others(968): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 301 | 0.0033 | 975 | c.-11 others(986): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 805 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(968): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0104 | 1 | 272 | 0.0037 | 975 | c.250 others(990): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(968): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 272 | 0.0037 | 975 | c.250 others(990): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82002 | G | GGGAAGGC others(968): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 442 | 0.0023 | 975 | c.301 others(992): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195777299 | C | CCCATACC others(968): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0062 | a0062c0197 | a0062c0197t0009 | a0062c0197t0009g0243 | 1 | 249 | 0.0040 | 975 | c.129 others(996): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150409 | C | CACCACAC others(968): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 294 | 0.0034 | 975 | c.902 others(990): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGATGG others(968): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0221 | 2 | 308 | 0.0065 | 975 | c.371 others(992): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(968): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 312 | 0.0032 | 975 | c.306 others(994): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(968): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18986.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0001g0144a0001c0001t0002g0140 | 3 | 312 | 0.0096 | 975 | c.306 others(994): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(968): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 312 | 0.0032 | 975 | c.306 others(994): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(968): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0075 | 1 | 295 | 0.0034 | 975 | c.715 others(992): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(968): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 295 | 0.0034 | 975 | c.715 others(992): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 355784 | A | AACAGTCG others(968): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 133 | 0.0075 | 975 | c.-32 others(986): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 2978 | chr17 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(968): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | 975 | c.-48 others(986): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(968): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 412 | 0.0049 | 975 | c.-48 others(986): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(968): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 412 | 0.0049 | 975 | c.-48 others(986): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(968): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 412 | 0.0024 | 975 | c.-48 others(986): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGCGCCAC others(968): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19007.hp1 |
a0011 | a0011c0016 | a0011c0016t0002a0011c0016t0004 | a0011c0016t0002g0006a0011c0016t0004g0004 | 2 | 164 | 0.0122 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGCGCCAC others(968): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0150 | 1 | 164 | 0.0061 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0032 | a0001c0032t0003 | a0001c0032t0003g0023 | 1 | 164 | 0.0061 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0090 | 1 | 164 | 0.0061 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp1 others(6): Show |
a0001a0003a0009 | a0001c0004a0003c0005a0003c0012others(1): Show | a0001c0004t0003a0003c0005t0003a0003c0005t0011others(2): Show | a0001c0004t0003g0100a0003c0005t0003g0110a0003c0005t0003g0138others(6): Show | 9 | 164 | 0.0549 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(57): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(57): Show | 60 | 164 | 0.3659 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0102 | 1 | 164 | 0.0061 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0149 | 1 | 164 | 0.0061 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIPA1L3_chr19_37902208_38213369 | 38131779 | C | CGTGCCAC others(968): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02109.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0015others(1): Show | a0001c0001t0002a0001c0001t0019a0001c0004t0003others(2): Show | a0001c0001t0002g0039a0001c0001t0002g0055a0001c0001t0002g0056others(15): Show | 18 | 164 | 0.1098 | 975 | c.314 others(994): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1222457 | A | AGCTGGAG others(968): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0156 | 1 | 190 | 0.0053 | 975 | c.719 others(994): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(968): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 268 | 0.0037 | 975 | c.*73 others(986): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(968): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0069 | 1 | 94 | 0.0106 | 975 | c.79+ others(992): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(968): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 94 | 0.0106 | 975 | c.79+ others(992): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TRIM58_chr1_247852187_247885138 | 247870492 | A | ACCCAGAA others(968): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0009 | a0001c0009t0056 | a0001c0009t0056g0182 | 1 | 454 | 0.0022 | 975 | c.871 others(992): Show |
TRIM58 | ENSG00000162722.9 | transcript | ENST00000366481.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |