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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(725): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 6 | 0.5000 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(725): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 732 | c.-27 others(743): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89398253 | A | ACTGTGAA others(725): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | 361 | 0.0055 | 732 | c.9+2 others(747): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531174 | T | TGAAGGGC others(725): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4142 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 234 | 0.0043 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(725): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 732 | c.-42 others(743): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364818 | C | CCTTACAT others(725): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0019 | 1 | 255 | 0.0039 | 732 | c.129 others(749): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43771629 | T | TTTACTTT others(725): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 231 | 0.0043 | 732 | c.123 others(751): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 12/14 | chrX | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0081 | 1 | 83 | 0.0120 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0016 | a0016c0014 | a0016c0014t0007 | a0016c0014t0007g0219 | 1 | 83 | 0.0120 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(725): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0202 | 1 | 83 | 0.0120 | 732 | c.377 others(749): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(725): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 213 | 0.0047 | 732 | c.250 others(747): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCG others(725): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 4 | 0.2500 | 732 | c.114 others(751): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(725): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 215 | 0.0047 | 732 | c.241 others(751): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(725): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 8 | 0.1250 | 732 | c.293 others(751): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209312 | C | CTCCCCCT others(725): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0114 a0001c0001t0014g0107 |
2 | 51 | 0.0392 | 732 | c.123 others(751): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841437 | A | AGCAGGTC others(725): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 232 | 0.0043 | 732 | c.361 others(751): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841622 | A | ACCCACAG others(725): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0008 | a0001c0008t0013 | a0001c0008t0013g0196 | 1 | 230 | 0.0043 | 732 | c.361 others(751): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(725): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 243 | 0.0041 | 732 | c.-15 others(743): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(88): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(1): Show | a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0010 others(70): Show |
91 | 93 | 0.9785 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG03225.hp2 NA21309.hp1 |
a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0192 a0007c0009t0003g0193 a0007c0009t0003g0194 |
3 | 5 | 0.6000 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(263): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0021a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(193): Show |
266 | 268 | 0.9925 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0211 | 1 | 3 | 0.3333 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(725): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0049 | 1 | 3 | 0.3333 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143988243 | G | GGGTTCAA others(725): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0143 |
2 | 378 | 0.0053 | 732 | c.-18 others(743): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1784 | chr8 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCCCGCCC others(725): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 226 | 0.0044 | 732 | c.471 others(747): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44984158 | T | TAACCACC others(725): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(1): Show |
4 | 296 | 0.0135 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 70 | 0.0143 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 70 | 0.0143 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 70 | 0.0143 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(52): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0034 a0001c0001t0001g0153 a0001c0001t0001g0155 others(52): Show |
55 | 124 | 0.4435 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 70 | 0.0143 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0232 a0001c0002t0004g0233 |
2 | 71 | 0.0282 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03516.hp2 |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0030a0002c0003t0011 | a0001c0002t0006g0110 a0001c0004t0030g0095 a0002c0003t0011g0036 |
3 | 72 | 0.0417 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0160 others(5): Show |
8 | 77 | 0.1039 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(725): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0011a0002c0003t0017others(1): Show | a0001c0001t0001g0239 a0002c0003t0011g0240 a0002c0003t0017g0007 others(1): Show |
4 | 73 | 0.0548 | 732 | c.120 others(751): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(725): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18747.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0020t0001g0091 |
3 | 142 | 0.0211 | 732 | c.*48 others(743): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0052 | a0001c0052t0032 | a0001c0052t0032g0120 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0022 | a0022c0028 | a0022c0028t0072 | a0022c0028t0072g0009 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0032 | a0001c0032t0087 | a0001c0032t0087g0008 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0087 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0091 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04115.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0077a0004c0006t0059 | a0001c0001t0077g0055 a0004c0006t0059g0192 |
2 | 25 | 0.0800 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0021 | a0021c0031 | a0021c0031t0071 | a0021c0031t0071g0107 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0098 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0057 | a0002c0057t0001 | a0002c0057t0001g0027 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(725): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0040 | a0040c0059 | a0040c0059t0002 | a0040c0059t0002g0114 | 1 | 24 | 0.0417 | 732 | c.147 others(749): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 433137 | C | CATTCTCC others(725): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 190 | 0.0053 | 732 | c.714 others(749): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044303 | G | GCCCCCCG others(725): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 50 | 0.0200 | 732 | c.278 others(749): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(725): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 287 | 0.0035 | 732 | c.-8- others(749): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar |