view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OSBPL10_chr3_31655825_31986262 | 31812811 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0170 | 1 | 186 | 0.0054 | 48 | c.729 others(67): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL3_chr7_24791540_24985178 | 24979834 | G | GCCAGGCC others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0294others(28): Show | 31 | 326 | 0.0951 | 48 | c.-15 others(63): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(41): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 443 | 0.0023 | 48 | c.*52 others(59): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54096556 | C | CCCTCTCT others(41): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01993.hp1 HG02004.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0100a0001c0001t0001g0163a0001c0001t0001g0283others(3): Show | 6 | 443 | 0.0135 | 48 | c.373 others(63): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54096572 | G | GCCTCTCT others(41): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 443 | 0.0023 | 48 | c.373 others(63): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54096588 | C | CCCTCTCT others(41): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0333a0001c0003t0004g0344 | 2 | 443 | 0.0045 | 48 | c.373 others(63): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
OSMR_chr5_38841012_38940641 | 38853775 | T | TCAGCTAA others(41): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0293 | 1 | 382 | 0.0026 | 48 | c.-14 others(65): Show |
OSMR | ENSG00000145623.13 | transcript | ENST00000274276.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128479 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 366 | 0.0027 | 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 |
a0001a0024a0048others(2): Show | a0001c0028a0024c0018a0048c0173others(2): Show | a0001c0028t0001a0024c0018t0002a0048c0173t0001others(2): Show | a0001c0028t0001g0266a0024c0018t0002g0070a0024c0018t0002g0093others(3): Show | 6 | 268 | 0.0224 | 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 | a0001c0004t0001g0250a0002c0002t0001g0300a0002c0002t0001g0316others(1): Show | 4 | 428 | 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 | a0001c0001t0001g0145 | 1 | 200 | 0.0050 | 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 | 474 | 0.0021 | 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 | a0001c0003t0001g0227 | 1 | 388 | 0.0026 | 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 | a0001c0003t0001g0336 | 1 | 388 | 0.0026 | 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 | a0002c0002t0001g0315a0002c0002t0001g0344a0002c0002t0003g0208others(14): Show | 17 | 366 | 0.0465 | 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 | a0004 | a0004c0012 | a0004c0012t0013 | a0004c0012t0013g0093 | 1 | 114 | 0.0088 | 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 | a0001c0002t0003g0257 | 1 | 304 | 0.0033 | 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 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0005a0001c0001t0001g0119a0001c0001t0001g0120others(2): Show | 8 | 217 | 0.0369 | 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 | a0001c0005t0005g0286 | 1 | 294 | 0.0034 | 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 | a0001c0002t0001g0224 | 1 | 406 | 0.0025 | 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 | a0012 | a0012c0021 | a0012c0021t0022 | a0012c0021t0022g0390 | 1 | 406 | 0.0025 | 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 | a0003c0005t0008g0005 | 1 | 156 | 0.0064 | 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 | 156 | 0.0064 | 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 | a0001c0001t0001g0026a0001c0001t0001g0072a0001c0001t0002g0125others(8): Show | 11 | 156 | 0.0705 | 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 | 156 | 0.0064 | 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 | a0001c0004t0003g0020a0001c0004t0006g0096 | 2 | 156 | 0.0128 | 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 | 222 | 0.0045 | 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 | a0001c0001t0002g0021a0001c0001t0002g0121 | 2 | 222 | 0.0090 | 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 | a0001c0004t0001g0289 | 1 | 416 | 0.0024 | 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 | a0001c0003t0001g0101 | 1 | 440 | 0.0023 | 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 | a0001c0001t0001g0019a0001c0001t0002g0005a0001c0001t0003g0089others(11): Show | 22 | 440 | 0.0500 | 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 | a0001c0001t0013g0275 | 1 | 372 | 0.0027 | 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 | a0001c0001t0056g0347 | 1 | 372 | 0.0027 | 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 | a0001c0001t0020g0157a0001c0001t0034g0298 | 2 | 372 | 0.0054 | 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 | a0001c0001t0047g0161 | 1 | 372 | 0.0027 | 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 | a0001c0001t0001g0054a0001c0003t0003g0068 | 2 | 284 | 0.0070 | 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 |
a0001a0003a0005 | a0001c0022a0003c0005a0005c0013 | a0001c0022t0018a0003c0005t0005a0005c0013t0001others(1): Show | a0001c0022t0018g0020a0003c0005t0005g0045a0005c0013t0001g0001others(1): Show | 4 | 54 | 0.0741 | 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 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0033 | 1 | 54 | 0.0185 | 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 | 54 | 0.0185 | 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 | a0001c0002t0001g0263a0001c0002t0001g0323 | 2 | 382 | 0.0052 | 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 | 362 | 0.0028 | 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 | a0001c0001t0001g0039a0001c0001t0001g0045 | 4 | 396 | 0.0101 | 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 | a0002c0001t0001g0250 | 1 | 436 | 0.0023 | 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 | a0030 | a0030c0075 | a0030c0075t0003 | a0030c0075t0003g0089 | 1 | 158 | 0.0063 | 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 | a0002c0002t0018g0245 | 1 | 256 | 0.0039 | 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 | a0001c0001t0008g0001 | 1 | 328 | 0.0031 | 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 | a0001c0001t0004g0076 | 1 | 464 | 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 | a0001c0001t0002g0248a0001c0001t0003g0230 | 2 | 292 | 0.0069 | 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(51): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0223a0001c0001t0002g0225a0001c0001t0002g0226others(51): Show | 54 | 292 | 0.1849 | 48 | c.-16 others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | chr21 | TogoVar |