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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARVB_chr22_44019302_44177939 | 44122526 | GACAGAGA others(23): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0186 | 1 | 332 | 0.0030 | -30 | c.376 others(47): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61813356 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0104 | a0001c0104t0014 | a0001c0104t0014g0114 | 1 | 158 | 0.0063 | -30 | c.168 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62127046 | TGTTTATT others(23): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG02040.hp1 others(13): Show |
a0001a0003a0006others(7): Show | a0001c0008a0001c0024a0001c0026others(12): Show | a0001c0008t0016a0001c0024t0001a0001c0026t0001others(12): Show | a0001c0008t0016g0047a0001c0024t0001g0139a0001c0026t0001g0116others(13): Show | 16 | 158 | 0.1013 | -30 | c.504 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAWR_chr12_79579879_79695964 | 79613959 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 256 | 0.0039 | -30 | c.649 others(45): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79632288 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0167 | 1 | 256 | 0.0039 | -30 | c.517 others(49): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36973105 | GAAAGGAA others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG01175.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(13): Show | a0001c0001t0001g0104a0001c0001t0001g0106a0001c0001t0001g0107others(17): Show | 20 | 274 | 0.0730 | -30 | c.605 others(47): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18681691 | ATTTATTT others(23): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 302 | 0.0033 | -30 | c.587 others(49): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAXBP1_chr21_32728899_32776755 | 32771943 | AGAGAGCG others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 360 | 0.0028 | -30 | c.-30 others(39): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 189 | chr21 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52571094 | GCAGGCGC others(23): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02647.hp2 others(18): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0270a0001c0004t0001g0271a0001c0004t0001g0273others(18): Show | 21 | 300 | 0.0700 | -30 | c.373 others(49): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 24/31 | chr3 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164771960 | TTGTAAGG others(23): Show |
T | intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 184 | 0.0054 | -30 | c.266 others(49): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125899203 | TTATAAAT others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(118): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0266a0001c0001t0001g0267a0001c0001t0001g0268others(118): Show | 121 | 294 | 0.4116 | -30 | c.275 others(49): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004a0001c0001t0005g0005 | 2 | 294 | 0.0068 | -30 | c.843 others(47): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02735.hp1 HG03834.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(5): Show | 8 | 174 | 0.0460 | -30 | c.184 others(49): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92132645 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03130.hp1 NA18949.hp1 NA19083.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0003c0005t0001 | a0001c0001t0002g0076a0001c0001t0007g0037a0003c0005t0001g0025 | 3 | 154 | 0.0195 | -30 | c.303 others(51): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046 | 1 | 154 | 0.0065 | -30 | c.336 others(51): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92575916 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0013 | 1 | 154 | 0.0065 | -30 | c.336 others(51): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53851671 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0033 | a0033c0023 | a0033c0023t0026 | a0033c0023t0026g0082 | 1 | 102 | 0.0098 | -30 | c.380 others(49): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54761683 | AAAAACAA others(23): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(62): Show |
a0001a0002a0003others(23): Show | a0001c0001a0002c0002a0002c0021others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0022a0001c0001t0001g0043a0001c0001t0001g0044others(62): Show | 65 | 102 | 0.6373 | -30 | c.-29 others(49): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53851671 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0074 | 1 | 94 | 0.0106 | -30 | c.380 others(49): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54761683 | AAAAACAA others(23): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(56): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0002c0002others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(36): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0041others(56): Show | 59 | 94 | 0.6277 | -30 | c.-29 others(49): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH18_chr4_137513918_137537494 | 137517489 | ATTTATTT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0031 | a0001c0006t0031g0117 | 1 | 406 | 0.0025 | -30 | c.*35 others(41): Show |
PCDH18 | ENSG00000189184.12 | transcript | ENST00000344876.9 | protein_coding | 1428 | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66594468 | GTTTATTT others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0012a0001c0003t0005others(4): Show | a0001c0001t0003g0062a0001c0001t0012g0058a0001c0003t0005g0036others(4): Show | 7 | 80 | 0.0875 | -30 | c.334 others(51): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0108 | 1 | 200 | 0.0050 | -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 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 202 | 0.0050 | -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 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0117 | 1 | 208 | 0.0048 | -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 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 212 | 0.0047 | -30 | c.238 others(51): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA7_chr5_140829269_141017347 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp1 | a0015 | a0015c0024 | a0015c0024t0002 | a0015c0024t0002g0188 | 1 | 248 | 0.0040 | -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 | 140847152 | ATTTCTGA others(23): Show |
A | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 258 | 0.0039 | -30 | c.239 others(49): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA9_chr5_140843382_141017347 | 140847152 | ATTTCTGA others(23): Show |
A | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0090 | 1 | 256 | 0.0039 | -30 | c.-13 others(41): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1229 | chr5 | TogoVar | ||||||
PCDHGA10_chr5_141407987_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0007t0001g0106others(2): Show | 5 | 306 | 0.0163 | -30 | c.243 others(51): Show |
PCDHGA10 | ENSG00000253846.3 | transcript | ENST00000398610.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA11_chr5_141416051_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp2 others(2): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0004a0004c0007t0004 | a0001c0003t0004g0306a0001c0003t0004g0307a0001c0003t0004g0308others(2): Show | 5 | 310 | 0.0161 | -30 | c.243 others(51): Show |
PCDHGA11 | ENSG00000253873.6 | transcript | ENST00000398587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA12_chr5_141425507_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001a0006 | a0001c0005a0006c0007 | a0001c0005t0001a0006c0007t0001 | a0001c0005t0001g0050a0001c0005t0001g0051a0001c0005t0001g0159others(2): Show | 5 | 318 | 0.0157 | -30 | c.242 others(49): Show |
PCDHGA12 | ENSG00000253159.3 | transcript | ENST00000252085.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA1_chr5_141325514_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp2 others(2): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0001 | a0002c0003t0001g0200a0002c0003t0001g0204a0003c0004t0001g0234others(2): Show | 5 | 268 | 0.0187 | -30 | c.242 others(51): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA2_chr5_141333760_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0098a0001c0001t0001g0106others(2): Show | 5 | 272 | 0.0184 | -30 | c.242 others(51): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA3_chr5_141338829_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0207a0001c0001t0001g0232a0003c0003t0001g0029others(2): Show | 5 | 270 | 0.0185 | -30 | c.242 others(51): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA4_chr5_141350021_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0002c0002t0001g0229others(2): Show | 5 | 274 | 0.0183 | -30 | c.251 others(51): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA5_chr5_141359162_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0002t0001g0018others(2): Show | 5 | 292 | 0.0171 | -30 | c.242 others(51): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA6_chr5_141368891_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0278a0001c0002t0001g0283a0001c0002t0001g0284others(2): Show | 5 | 292 | 0.0171 | -30 | c.242 others(51): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA7_chr5_141377742_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(2): Show | 5 | 292 | 0.0171 | -30 | c.242 others(51): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA8_chr5_141387633_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | 302 | 0.0166 | -30 | c.242 others(51): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA9_chr5_141397778_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0279a0001c0005t0001g0280a0001c0005t0001g0282others(2): Show | 5 | 302 | 0.0166 | -30 | c.242 others(51): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB1_chr5_141345099_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0001a0002c0004t0001 | a0001c0003t0001g0159a0001c0003t0001g0160a0002c0004t0001g0012others(2): Show | 5 | 278 | 0.0180 | -30 | c.241 others(51): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0086a0001c0001t0001g0087a0003c0003t0001g0279others(2): Show | 5 | 288 | 0.0174 | -30 | c.242 others(51): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0229a0001c0001t0001g0230a0003c0003t0001g0284others(2): Show | 5 | 296 | 0.0169 | -30 | c.241 others(51): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0013others(2): Show | 5 | 294 | 0.0170 | -30 | c.239 others(51): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015a0001c0001t0010g0016a0001c0001t0010g0018others(2): Show | 5 | 300 | 0.0167 | -30 | c.239 others(51): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02886.hp1 others(2): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0088a0002c0003t0001g0089a0002c0009t0001g0182others(2): Show | 5 | 302 | 0.0166 | -30 | c.241 others(51): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141438583 | CATACATA others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282a0001c0001t0002g0283a0001c0001t0002g0303others(2): Show | 5 | 306 | 0.0163 | -30 | c.241 others(51): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 701973 | CAAAGAAA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0075 | 1 | 366 | 0.0027 | -30 | c.-41 others(41): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3858 | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83155155 | AGCCAGGC others(23): Show |
A | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02559.hp2 others(1): Show |
a0013a0061 | a0013c0082a0013c0083a0013c0084others(1): Show | a0013c0082t0022a0013c0083t0021a0013c0084t0015others(1): Show | a0013c0082t0022g0002a0013c0083t0021g0004a0013c0084t0015g0001others(1): Show | 4 | 188 | 0.0213 | -30 | c.145 others(39): Show |
p.Pro others(13): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2/25 | 1777/20284 | 1456/15429 | 486/5142 | chr7 | TogoVar |