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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0205 | 1 | 191 | 0.0052 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 191 | 0.0052 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG03540.hp2 HG04204.hp2 NA18522.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0012a0001c0002t0008others(1): Show | a0001c0001t0001g0164 a0001c0001t0012g0008 a0001c0002t0008g0038 others(1): Show |
4 | 194 | 0.0206 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 212 | 0.0047 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 210 | 0.0048 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19000.hp2 NA19003.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0009 | a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0003g0142 others(1): Show |
4 | 213 | 0.0188 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0121 | 1 | 210 | 0.0048 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 2 | 0.5000 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0185 | 1 | 2 | 0.5000 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0088 | 1 | 2 | 0.5000 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1076): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0242 | 1 | 24 | 0.0417 | 1083 | c.371 others(1100): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1076): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 140 | 0.0071 | 1083 | c.*48 others(1094): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3162861 | C | CTCTAGAG others(1076): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 150 | 0.0067 | 1083 | c.38- others(1100): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099745 | G | GCCCCCCA others(1076): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 55 | 0.0182 | 1083 | c.56- others(1100): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1076): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0032 | a0001c0001t0016g0112 a0001c0001t0032g0102 |
2 | 134 | 0.0149 | 1083 | c.389 others(1104): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1076): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 133 | 0.0075 | 1083 | c.389 others(1104): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377475 | C | CCCCCACC others(1076): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 | 2 | 331 | 0.0060 | 1083 | c.-15 others(1094): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1450 | chr19 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAACT others(1076): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0065 | 1 | 101 | 0.0099 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1076): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 103 | 0.0097 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1076): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 103 | 0.0097 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204190 | T | TATAATAT others(1076): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 174 | 0.0057 | 1083 | c.41- others(1100): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1076): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 113 | 0.0088 | 1083 | c.*53 others(1094): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1077): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 3 | 0.3333 | 1084 | c.787 others(1099): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049142 | C | CGGGGGGC others(1077): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0007 | 1 | 275 | 0.0036 | 1084 | c.*55 others(1095): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2961 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1077): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 76 | 0.0132 | 1084 | c.955 others(1101): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGCCCC others(1077): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19004.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0009 | 2 | 333 | 0.0060 | 1084 | c.666 others(1099): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1077): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0078 a0005c0010t0001g0127 |
2 | 230 | 0.0087 | 1084 | c.411 others(1101): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1077): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0258 | 1 | 2 | 0.5000 | 1084 | c.273 others(1099): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1077): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02622.hp1 others(12): Show |
a0001a0002a0008others(1): Show | a0001c0004a0001c0051a0002c0002others(2): Show | a0001c0004t0002a0001c0051t0002a0002c0002t0002others(2): Show | a0001c0004t0002g0051 a0001c0004t0002g0053 a0001c0051t0002g0055 others(10): Show |
15 | 16 | 0.9375 | 1084 | c.273 others(1099): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958151 | C | CACTGCTA others(1077): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0138 | 1 | 227 | 0.0044 | 1084 | c.724 others(1103): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1077): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19005.hp1 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0003 | 2 | 97 | 0.0206 | 1084 | c.119 others(1103): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GRIN3A_chr9_101564352_101743647 | 101617062 | T | TGGTGGCG others(1077): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01496.hp1 HG01952.hp1 others(4): Show |
a0001a0002a0005 | a0001c0030a0002c0002a0005c0008others(1): Show | a0001c0030t0018a0002c0002t0005a0002c0002t0021others(3): Show | a0001c0030t0018g0007 a0002c0002t0005g0287 a0002c0002t0005g0290 others(4): Show |
7 | 274 | 0.0255 | 1084 | c.261 others(1103): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0021 | 1 | 213 | 0.0047 | 1084 | c.258 others(1101): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KRTAP5-7_chr11_71522267_71533669 | 71522508 | G | GGTGACAC others(1077): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03098.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0000 | 3 | 458 | 0.0066 | 1084 | c.-47 others(1095): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4758 | chr11 | TogoVar | |||||||
LSS_chr21_46183446_46233774 | 46184457 | C | CACAACCC others(1077): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp1 |
a0008 | a0008c0010 | a0008c0010t0009 | a0008c0010t0009g0261 a0008c0010t0009g0262 |
2 | 355 | 0.0056 | 1084 | c.*66 others(1095): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3988 | chr21 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 102 | 0.0098 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02818.hp2 others(7): Show |
a0006a0010a0061others(3): Show | a0006c0017a0006c0061a0010c0018others(6): Show | a0006c0017t0001a0006c0061t0001a0010c0018t0007others(6): Show | a0006c0017t0001g0043 a0006c0017t0001g0076 a0006c0061t0001g0074 others(7): Show |
10 | 111 | 0.0901 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0057 | 1 | 102 | 0.0098 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667955 | T | TCCCTTAC others(1077): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 170 | 0.0059 | 1084 | c.148 others(1103): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NUDT3_chr6_34274679_34397669 | 34336695 | A | AGACTTTT others(1077): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 268 | 0.0037 | 1084 | c.210 others(1101): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1077): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0004a0001c0014t0004 | a0001c0002t0004g0089 a0001c0002t0004g0148 a0001c0002t0004g0156 others(3): Show |
6 | 7 | 0.8571 | 1084 | c.162 others(1103): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1077): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0243 | 1 | 24 | 0.0417 | 1084 | c.371 others(1101): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(1077): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 269 | 0.0037 | 1084 | c.126 others(1103): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1077): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 2 | 0.5000 | 1084 | c.-37 others(1095): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGCCCC others(1077): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0051 | 1 | 275 | 0.0036 | 1084 | c.-49 others(1095): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 110 | 0.0091 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0020 others(30): Show |
33 | 142 | 0.2324 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 110 | 0.0091 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1077): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0281 a0001c0001t0014g0131 |
2 | 175 | 0.0114 | 1084 | c.66+ others(1099): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197134 | C | CATCCATC others(1077): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0290 | 1 | 413 | 0.0024 | 1084 | c.107 others(1101): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar |