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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OSTF1_chr9_75083514_75152265 | 75128479 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 363 | 0.0028 | 48 | c.132 others(63): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17639896 | A | ATGGTGGT others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02698.hp2 others(3): Show |
a0001a0027a0055others(2): Show | a0001c0028a0027c0018a0055c0173others(2): Show | a0001c0028t0001a0027c0018t0002a0055c0173t0001others(2): Show | a0001c0028t0001g0266 a0027c0018t0002g0070 a0027c0018t0002g0093 others(3): Show |
6 | 253 | 0.0237 | 48 | c.793 others(65): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 49/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTOP1_chr4_4183726_4231929 | 4220009 | A | ATGTATAT others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG02735.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0247 a0002c0002t0001g0295 a0002c0002t0001g0309 others(1): Show |
4 | 426 | 0.0094 | 48 | c.403 others(65): Show |
OTOP1 | ENSG00000163982.6 | transcript | ENST00000296358.5 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41859891 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 172 | 0.0058 | 48 | c.278 others(65): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
OXTR_chr3_8745381_8774613 | 8773207 | A | ATATAATC others(41): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0164 | 1 | 295 | 0.0034 | 48 | c.-42 others(59): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3595 | chr3 | TogoVar | |||||||
P2RX4_chr12_121205129_121239106 | 121212824 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0210 | 1 | 47 | 0.0213 | 48 | c.134 others(65): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX4_chr12_121205129_121239106 | 121212824 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0289 | 1 | 47 | 0.0213 | 48 | c.134 others(65): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130820 | A | AGAAAGAA others(41): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(14): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0003a0005c0006others(3): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0033others(7): Show | a0002c0002t0001g0315 a0002c0002t0001g0344 a0002c0002t0003g0208 others(14): Show |
17 | 237 | 0.0717 | 48 | c.-21 others(59): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2055 | chr12 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1509741 | G | GTATCTAT others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0008 | a0003c0008t0015 | a0003c0008t0015g0095 | 1 | 92 | 0.0109 | 48 | c.-25 others(67): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190007965 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0259 | 1 | 23 | 0.0435 | 48 | c.481 others(67): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134788146 | T | TACGTTAT others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18944.hp1 NA18964.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0001t0001g0112 others(2): Show |
8 | 143 | 0.0559 | 48 | c.435 others(63): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162852017 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 130 | 0.0077 | 48 | c.291 others(67): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42975457 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0284 | 1 | 99 | 0.0101 | 48 | c.-78 others(67): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PADI1_chr1_17200128_17251007 | 17235277 | A | AGGAAGGA others(41): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 | 1 | 338 | 0.0030 | 48 | c.131 others(67): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PADI1_chr1_17200128_17251007 | 17235281 | A | AGGAAGGA others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0014 | a0014c0021 | a0014c0021t0022 | a0014c0021t0022g0387 | 1 | 386 | 0.0026 | 48 | c.131 others(67): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0011 | 1 | 84 | 0.0119 | 48 | c.909 others(67): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168625502 | G | GATAGATA others(41): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 84 | 0.0119 | 48 | c.909 others(67): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(41): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG02293.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0005others(6): Show | a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0002g0113 others(8): Show |
11 | 50 | 0.2200 | 48 | c.196 others(69): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793186 | C | TATATATA others(41): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0076 | 1 | 153 | 0.0065 | 48 | c.196 others(69): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168793337 | A | ATGTGTGC others(41): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0006 | a0001c0004t0003g0020 a0001c0004t0006g0092 |
2 | 154 | 0.0130 | 48 | c.196 others(69): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 129 | 0.0078 | 48 | c.583 others(63): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02155.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0120 |
2 | 130 | 0.0154 | 48 | c.583 others(63): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAAAAATA others(41): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0286 | 1 | 159 | 0.0063 | 48 | c.635 others(63): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50165996 | C | CGCCTGCA others(41): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 421 | 0.0024 | 48 | c.-47 others(59): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4734 | chr22 | TogoVar | |||||||
PANX2_chr22_50165731_50185295 | 50166508 | G | GTCCCAGC others(41): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020 a0001c0001t0002g0007 a0001c0001t0003g0071 others(9): Show |
22 | 173 | 0.1272 | 48 | c.-42 others(59): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 4222 | chr22 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0276 | 1 | 194 | 0.0052 | 48 | c.28- others(63): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0346 | 1 | 194 | 0.0052 | 48 | c.28- others(63): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0034 | a0001c0001t0020g0158 a0001c0001t0034g0299 |
2 | 195 | 0.0103 | 48 | c.28- others(63): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0163 | 1 | 194 | 0.0052 | 48 | c.28- others(63): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 NA18947.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0060 a0001c0003t0003g0062 |
2 | 222 | 0.0090 | 48 | c.-27 others(69): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380575 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(1): Show |
a0002a0003a0005 | a0002c0022a0003c0005a0005c0013 | a0002c0022t0018a0003c0005t0005a0005c0013t0001others(1): Show | a0002c0022t0018g0020 a0003c0005t0005g0045 a0005c0013t0001g0001 others(1): Show |
4 | 28 | 0.1429 | 48 | c.263 others(69): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205383097 | T | TAGATAGA others(41): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 52 | 0.0192 | 48 | c.263 others(69): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205383101 | T | TAGATAGA others(41): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0020 | a0004c0020t0020 | a0004c0020t0020g0032 | 1 | 53 | 0.0189 | 48 | c.263 others(69): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80195548 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0264 a0001c0002t0001g0322 |
2 | 183 | 0.0109 | 48 | c.295 others(65): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24455506 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0032 | 1 | 331 | 0.0030 | 48 | c.256 others(65): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | |||||||
PARP6_chr15_72236181_72277554 | 72275860 | A | AGTGTCAT others(41): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0045 |
4 | 13 | 0.3077 | 48 | c.-39 others(59): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 3307 | chr15 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122539507 | A | ATTTCTTT others(41): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0231 | 1 | 71 | 0.0141 | 48 | c.176 others(65): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTAT others(41): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0028 | a0028c0075 | a0028c0075t0001 | a0028c0075t0001g0047 | 1 | 55 | 0.0182 | 48 | c.437 others(67): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639833 | C | CATTCCTA others(41): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0244 | 1 | 100 | 0.0100 | 48 | c.517 others(67): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222265691 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 237 | 0.0042 | 48 | c.586 others(67): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
PCARE_chr2_29056695_29079523 | 29069324 | A | AATGTAAT others(41): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 462 | 0.0022 | 48 | c.366 others(67): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746945 | C | CTCACACG others(41): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0246 a0001c0001t0003g0231 |
2 | 237 | 0.0084 | 48 | c.-16 others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746945 | C | CTCACACG others(41): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 others(49): Show |
53 | 288 | 0.1840 | 48 | c.-16 others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746946 | G | GCACACGG others(41): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01081.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0035 others(58): Show |
61 | 159 | 0.3836 | 48 | c.-16 others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45918832 | G | GGGAAGAA others(41): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0021 | 1 | 148 | 0.0068 | 48 | c.717 others(65): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100263982 | C | CACATATA others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 |
3 | 111 | 0.0270 | 48 | c.819 others(65): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136268098 | A | ATGTATAT others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 293 | 0.0034 | 48 | c.543 others(65): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91950589 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0014 | 1 | 113 | 0.0088 | 48 | c.303 others(69): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92147841 | T | TTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0048 a0001c0001t0002g0057 a0001c0001t0005g0071 |
3 | 152 | 0.0197 | 48 | c.303 others(69): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(41): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01256.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0079 a0001c0001t0002g0088 a0001c0001t0004g0078 others(3): Show |
6 | 67 | 0.0896 | 48 | c.314 others(69): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |