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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGD_chr1_10394064_10425511 | 10415291 | A | AAGGAAGT others(11): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 394 | 0.0025 | 18 | c.845 others(35): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | C | CATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01516.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0040a0001c0001t0044others(5): Show | a0001c0001t0007g0064a0001c0001t0007g0066a0001c0001t0007g0104others(14): Show | 18 | 372 | 0.0484 | 18 | c.*52 others(29): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5221 | chr5 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | T | TTTTTCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 NA18947.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0080a0004c0004t0001g0099 | 2 | 382 | 0.0052 | 18 | c.*82 others(27): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473822 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0188 | 2 | 382 | 0.0052 | 18 | c.113 others(37): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63604959 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 366 | 0.0027 | 18 | c.246 others(37): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63607503 | A | AGTGTGCT others(11): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 366 | 0.0027 | 18 | c.246 others(37): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63647259 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 HG02155.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0094a0001c0001t0001g0096others(8): Show | 11 | 366 | 0.0301 | 18 | c.114 others(37): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0022a0001c0004t0023 | a0001c0001t0003g0181a0001c0001t0022g0355a0001c0004t0023g0095 | 3 | 380 | 0.0079 | 18 | c.112 others(35): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18950.hp2 NA19010.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0004t0013a0002c0002t0004 | a0001c0001t0003g0157a0001c0004t0013g0109a0002c0002t0004g0159others(1): Show | 4 | 380 | 0.0105 | 18 | c.112 others(35): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74402673 | T | TATGTATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(102): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0042a0001c0004t0009others(18): Show | a0001c0001t0002g0273a0001c0001t0002g0306a0001c0001t0002g0327others(96): Show | 105 | 380 | 0.2763 | 18 | c.-45 others(29): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4241 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841072 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00738.hp2 others(16): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0003a0001c0019t0001 | a0001c0001t0001g0002a0001c0001t0001g0041a0001c0001t0001g0058others(12): Show | 19 | 446 | 0.0426 | 18 | c.719 others(33): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37841100 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01192.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0302a0001c0001t0001g0340a0001c0001t0001g0341others(7): Show | 11 | 446 | 0.0247 | 18 | c.719 others(33): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37841158 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0210 | 1 | 446 | 0.0022 | 18 | c.719 others(33): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68356406 | T | TACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG06807.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0015a0001c0005t0016 | a0001c0003t0015g0013a0001c0005t0016g0087 | 2 | 246 | 0.0081 | 18 | c.-72 others(27): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 204 | chr9 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68423651 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0240 | 1 | 246 | 0.0041 | 18 | c.104 others(39): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 398 | 0.0025 | 18 | c.-14 others(39): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0094a0001c0001t0267 | a0001c0001t0094g0285a0001c0001t0267g0108 | 2 | 412 | 0.0049 | 18 | c.-19 others(29): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18363033 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02004.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0203 | a0001c0001t0038g0273a0001c0001t0203g0066 | 2 | 412 | 0.0049 | 18 | c.438 others(33): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18367155 | C | CAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0229 | a0001c0001t0229g0072 | 1 | 412 | 0.0024 | 18 | c.*35 others(29): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 3593 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGR_chr11_101024624_101134813 | 101107865 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0005 | a0003c0005t0053 | a0003c0005t0053g0166 | 1 | 254 | 0.0039 | 18 | c.179 others(39): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12797040 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 108 | 0.0093 | 18 | c.250 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12798039 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01361.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(29): Show | 32 | 108 | 0.2963 | 18 | c.250 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12798056 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 108 | 0.0093 | 18 | c.250 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12829964 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 108 | 0.0093 | 18 | c.250 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12955192 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 108 | 0.0093 | 18 | c.251 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13003951 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 108 | 0.0093 | 18 | c.251 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13003963 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 108 | 0.0093 | 18 | c.251 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13013888 | T | TGGCGGAG others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 108 | 0.0093 | 18 | c.251 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13109833 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 108 | 0.0093 | 18 | c.416 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13177172 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 108 | 0.0093 | 18 | c.497 others(35): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13193357 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03516.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0002g0006a0001c0001t0007g0067a0001c0003t0001g0054others(1): Show | 4 | 108 | 0.0370 | 18 | c.664 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0020a0001c0001t0001g0063a0001c0001t0001g0082others(2): Show | 5 | 108 | 0.0463 | 18 | c.665 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143704079 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0101a0001c0003t0109 | a0001c0001t0101g0017a0001c0003t0109g0310 | 2 | 310 | 0.0065 | 18 | c.47- others(33): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143704097 | G | GTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0264a0002c0002t0020g0265 | 2 | 310 | 0.0065 | 18 | c.47- others(33): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143751791 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0273a0001c0001t0008g0048 | 2 | 310 | 0.0065 | 18 | c.296 others(35): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143783005 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0112 | 1 | 310 | 0.0032 | 18 | c.164 others(35): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143832114 | A | AGTAGCAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0164 | 1 | 310 | 0.0032 | 18 | c.*84 others(29): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 930 | chr6 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0198a0001c0001t0001g0200others(5): Show | 8 | 250 | 0.0320 | 18 | c.118 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622989 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0166 | 2 | 250 | 0.0080 | 18 | c.118 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635194 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02897.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0149a0001c0001t0005g0055a0001c0001t0006g0067 | 3 | 250 | 0.0120 | 18 | c.118 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674475 | T | TCCTTCCC others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 250 | 0.0040 | 18 | c.119 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674937 | A | ACTTCTCC others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0236a0001c0001t0005g0153 | 2 | 250 | 0.0080 | 18 | c.119 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59848021 | A | AAAGGGGG others(11): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 250 | 0.0040 | 18 | c.*89 others(27): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 311 | chr20 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28450974 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01257.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0001g0017a0002c0002t0002g0167a0002c0002t0002g0178others(9): Show | 12 | 228 | 0.0526 | 18 | c.17- others(33): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126604274 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0142 | 1 | 382 | 0.0026 | 18 | c.710 others(32): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0062 | 2 | 382 | 0.0052 | 18 | c.831 others(33): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356275 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18943.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0186a0001c0003t0003g0222 | 2 | 370 | 0.0054 | 18 | c.977 others(35): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170123356 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0272a0001c0001t0004g0005a0001c0001t0004g0006others(56): Show | 59 | 332 | 0.1777 | 18 | c.178 others(35): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22041265 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0046 | 1 | 231 | 0.0043 | 18 | c.187 others(35): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22048479 | T | TGCACACA others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0228 | 1 | 231 | 0.0043 | 18 | c.349 others(35): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar |