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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHA1_chr5_140781140_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003 | a0001c0001t0003g0086 a0002c0002t0001g0163 a0002c0002t0001g0164 others(1): Show |
4 | 100 | 0.0400 | 30 | c.239 others(51): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0093 | 1 | 97 | 0.0103 | 30 | c.239 others(51): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0097 |
3 | 164 | 0.0183 | 30 | c.238 others(51): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0002c0002t0001a0003c0004t0003 | a0001c0001t0003g0198 a0002c0002t0001g0178 a0002c0002t0001g0179 others(1): Show |
4 | 101 | 0.0396 | 30 | c.238 others(51): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 98 | 0.0102 | 30 | c.238 others(51): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02145.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0093 |
3 | 169 | 0.0178 | 30 | c.239 others(51): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02970.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0002c0002t0002a0003c0004t0003 | a0001c0001t0003g0007 a0002c0002t0002g0179 a0002c0002t0002g0180 others(1): Show |
4 | 106 | 0.0377 | 30 | c.239 others(51): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 103 | 0.0097 | 30 | c.239 others(51): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02145.hp2 HG02451.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0014 a0003c0003t0001g0077 a0005c0005t0001g0089 |
3 | 173 | 0.0173 | 30 | c.238 others(51): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02970.hp1 others(1): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0002a0003c0003t0003a0006c0006t0003 | a0001c0001t0002g0190 a0001c0001t0002g0191 a0003c0003t0003g0012 others(1): Show |
4 | 109 | 0.0367 | 30 | c.238 others(51): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 106 | 0.0094 | 30 | c.238 others(51): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0180 a0001c0001t0001g0216 |
3 | 180 | 0.0167 | 30 | c.235 others(51): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0008a0005c0005 | a0001c0001t0025a0004c0008t0002a0005c0005t0005 | a0001c0001t0025g0052 a0004c0008t0002g0087 a0004c0008t0002g0104 others(1): Show |
4 | 112 | 0.0357 | 30 | c.235 others(51): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 109 | 0.0092 | 30 | c.235 others(51): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02451.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0024 a0001c0001t0001g0079 a0003c0003t0001g0002 |
3 | 194 | 0.0155 | 30 | c.239 others(51): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02970.hp2 others(1): Show |
a0001a0003a0004 | a0001c0002a0003c0003a0004c0005 | a0001c0002t0001a0003c0003t0003a0004c0005t0003 | a0001c0002t0001g0182 a0001c0002t0001g0230 a0003c0003t0003g0019 others(1): Show |
4 | 118 | 0.0339 | 30 | c.239 others(51): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013 | 1 | 115 | 0.0087 | 30 | c.239 others(51): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02145.hp1 HG02451.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 a0002c0002t0001g0131 a0002c0002t0001g0188 |
3 | 205 | 0.0146 | 30 | c.235 others(51): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0003 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0003g0024 others(1): Show |
4 | 126 | 0.0317 | 30 | c.235 others(51): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 123 | 0.0081 | 30 | c.235 others(51): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02145.hp1 HG02451.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0100 a0003c0003t0001g0011 |
3 | 213 | 0.0141 | 30 | c.239 others(51): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0001a0004c0004t0003 | a0001c0001t0003g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 others(1): Show |
4 | 131 | 0.0305 | 30 | c.239 others(51): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 128 | 0.0078 | 30 | c.239 others(51): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG02451.hp2 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0147 a0001c0005t0001g0209 a0002c0002t0001g0119 |
3 | 212 | 0.0142 | 30 | c.239 others(51): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02970.hp1 others(1): Show |
a0003a0005a0016 | a0003c0004a0005c0006a0016c0017 | a0003c0004t0003a0005c0006t0003a0016c0017t0001 | a0003c0004t0003g0050 a0005c0006t0003g0253 a0016c0017t0001g0037 others(1): Show |
4 | 128 | 0.0313 | 30 | c.239 others(51): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0012 | a0012c0012 | a0012c0012t0010 | a0012c0012t0010g0227 | 1 | 125 | 0.0080 | 30 | c.239 others(51): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946611 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp2 HG02451.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008 | a0001c0003t0002g0241 a0001c0003t0002g0274 a0001c0003t0008g0240 |
3 | 234 | 0.0128 | 30 | c.243 others(51): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0007t0001 | a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0007t0001g0195 others(1): Show |
4 | 148 | 0.0270 | 30 | c.243 others(51): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 145 | 0.0069 | 30 | c.243 others(51): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHB11_chr5_141194627_141208779 | 141204212 | C | CAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0000 | 1 | 180 | 0.0056 | 30 | c.*20 others(41): Show |
PCDHB11 | ENSG00000197479.7 | transcript | ENST00000354757.5 | protein_coding | 434 | chr5 | TogoVar | |||||||
PCDHB12_chr5_141203719_141217571 | 141204212 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0014 | a0002c0014t0006 | a0002c0014t0006g0000 | 1 | 164 | 0.0061 | 30 | c.-46 others(41): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 4506 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 HG02615.hp1 HG02965.hp1 others(3): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0028a0004c0005others(2): Show | a0003c0003t0003a0003c0028t0003a0004c0005t0024others(2): Show | a0003c0003t0003g0000 a0003c0028t0003g0000 a0004c0005t0024g0000 others(2): Show |
6 | 231 | 0.0260 | 30 | c.*49 others(41): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTGTATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0000 | 1 | 226 | 0.0044 | 30 | c.*49 others(41): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221511 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02647.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0011a0007c0007t0015 | a0007c0007t0011g0000 a0007c0007t0015g0000 |
4 | 426 | 0.0094 | 30 | c.*49 others(41): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2533 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG02615.hp2 others(4): Show |
a0001a0006 | a0001c0004a0006c0009 | a0001c0004t0004a0001c0004t0023a0006c0009t0005 | a0001c0004t0004g0000 a0001c0004t0023g0000 a0006c0009t0005g0000 |
7 | 247 | 0.0283 | 30 | c.-20 others(41): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTGTATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001a0008 | a0001c0004a0008c0012 | a0001c0004t0004a0008c0012t0003 | a0001c0004t0004g0000 a0008c0012t0003g0000 |
2 | 242 | 0.0083 | 30 | c.-20 others(41): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221511 | G | GTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02647.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0003a0005c0008t0014 | a0005c0008t0003g0000 a0005c0008t0014g0000 |
4 | 446 | 0.0090 | 30 | c.-19 others(41): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1831 | chr5 | TogoVar | |||||||
PCDHB3_chr5_141095473_141108827 | 141106388 | A | AAATTATG others(23): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0000 | 1 | 422 | 0.0024 | 30 | c.*33 others(41): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 2562 | chr5 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842662 | A | ATAGATGT others(23): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0018 others(10): Show |
103 | 422 | 0.2441 | 30 | c.-25 others(41): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2008 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842706 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021 | 1 | 364 | 0.0027 | 30 | c.-25 others(41): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2052 | chr20 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47089461 | C | CATGTATA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160 a0001c0002t0001g0159 |
2 | 111 | 0.0180 | 30 | c.-60 others(49): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47217470 | G | GAAAAAGA others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 75 | 0.0133 | 30 | c.-58 others(45): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91238603 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0188 | 1 | 304 | 0.0033 | 30 | c.113 others(47): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 132 | 0.0076 | 30 | c.330 others(51): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0002 | a0003c0002t0027 | a0003c0002t0027g0149 | 1 | 149 | 0.0067 | 30 | c.330 others(51): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(23): Show |
splice_region_variant others(1): Show |
LOW | HG02273.hp1 HG03688.hp1 |
a0002 | a0002c0088a0002c0091 | a0002c0088t0001a0002c0091t0001 | a0002c0088t0001g0156 a0002c0091t0001g0162 |
2 | 161 | 0.0124 | 30 | c.330 others(43): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83155517 | T | TGCTGAGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp2 HG01099.hp2 HG01109.hp1 others(26): Show |
a0002a0011a0012others(1): Show | a0002c0005a0002c0011a0002c0022others(16): Show | a0002c0005t0001a0002c0005t0028a0002c0011t0001others(18): Show | a0002c0005t0001g0159 a0002c0005t0001g0168 a0002c0005t0001g0170 others(26): Show |
29 | 186 | 0.1559 | 30 | c.109 others(39): Show |
p.Pro others(13): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2/25 | 1415/20284 | 1123/15429 | 375/5142 | chr7 | TogoVar | |||
PCMT1_chr6_149744741_149816419 | 149762689 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 | 1 | 324 | 0.0031 | 30 | c.56- others(45): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910040 | T | TCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01952.hp2 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0043 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0020g0013 others(3): Show |
6 | 340 | 0.0176 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910064 | C | CCCCCCTC others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0216 | 1 | 257 | 0.0039 | 30 | c.153 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |